학술논문
전자자료 공정이용 안내
우리 대학 도서관에서 구독·제공하는 모든 전자자료(데이터베이스, 전자저널, 전자책 등)는 국내외 저작권법과 출판사와의 라이선스 계약에 따라 엄격하게 보호를 받고 있습니다.
전자자료의 비정상적 이용은 출판사로부터의 경고, 서비스 차단, 손해배상 청구 등 학교 전체에 심각한 불이익을 초래할 수 있으므로, 아래의 공정이용 지침을 반드시 준수해 주시기 바랍니다.
공정이용 지침
- 전자자료는 개인의 학습·교육·연구 목적의 비영리적 사용에 한하여 이용할 수 있습니다.
- 합리적인 수준의 다운로드 및 출력만 허용됩니다. (일반적으로 동일 PC에서 동일 출판사의 논문을 1일 30건 이하 다운로드할 것을 권장하며, 출판사별 기준에 따라 다를 수 있습니다.)
- 출판사에서 제공한 논문의 URL을 수업 관련 웹사이트에 게재할 수 있으나, 출판사 원문 파일 자체를 복제·배포해서는 안 됩니다.
- 본인의 ID/PW를 타인에게 제공하지 말고, 도용되지 않도록 철저히 관리해 주시기 바랍니다.
불공정 이용 사례
- 전자적·기계적 수단(다운로딩 프로그램, 웹 크롤러, 로봇, 매크로, RPA 등)을 이용한 대량 다운로드
- 동일 컴퓨터 또는 동일 IP에서 단시간 내 다수의 원문을 집중적으로 다운로드하거나, 전권(whole issue) 다운로드
- 저장·출력한 자료를 타인에게 배포하거나 개인 블로그·웹하드 등에 업로드
- 상업적·영리적 목적으로 자료를 전송·복제·활용
- ID/PW를 타인에게 양도하거나 타인 계정을 도용하여 이용
- EndNote, Mendeley 등 서지관리 프로그램의 Find Full Text 기능을 이용한 대량 다운로드
- 출판사 콘텐츠를 생성형 AI 시스템에서 활용하는 행위(업로드, 개발, 학습, 프로그래밍, 개선 또는 강화 등)
위반 시 제재
- 출판사에 의한 해당 IP 또는 기관 전체 접속 차단
- 출판사 배상 요구 시 위반자 개인이 배상 책임 부담
'학술논문'
에서 검색결과 47건 | 목록
1~20
Academic Journal
Borroto, Maria Carla; Patel, Heena, PharmD; Srivastava, Siddharth, MD; Swanson, Lindsay C., MS; Keren, Boris, MD, PhD; Whalen, Sandra, MD; Mignot, Cyril, MD, PhD; Wang, Xiaodong, PhD; Chen, Qian, MSc, PhD; Rosenfeld, Jill A., MS; McLean, Scott, MD; Littlejohn, Rebecca O., MS; Emrick, Lisa, MD; Burrage, Lindsay C., MD, PhD; Attali, Ruben, MSc, PhD; Lesca, Gaetan, MD, PhD; Acquaviva-Bourdain, Cecile, PharmD, PhD; Sarret, Catherine, MD, PhD; Seaver, Laurie H., MD; Platzer, Konrad, MD; Bartolomaeus, Tobias, MD; Wünsch, Cornelia, MD; Fischer, Susann, MD, PhD; Rodriguez Barreto, Ana Maria, MD; Granadillo, Jorge L., MD, MSc; Schreiner, Elisabeth, MD; Brunet, Theresa, MD; Schatz, Ulrich A., MD; Thiffault, Isabelle, PhD; Mullegama, Sureni V., PhD; Michaud, Jacques L., MD; Hamdan, Fadi F., PhD, MSc; Rossignol, Elsa, MD, MSc; Campeau, Philippe M., MD; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Kennedy, Jennifer; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan
Pediatric Neurology. 160:45-53
Academic Journal
Mohajeri, Arezoo; Vaseghi-Shanjani, Maryam; Rosenfeld, Jill A.; Yang, Gui Xiang; Lu, Henry; Sharma, Mehul; Lin, Susan; Salman, Areesha; Waqas, Meriam; Sababi Azamian, Mahshid; Worley, Kim C.; del Bel, Kate L.; Kozak, Frederick K.; Rahmanian, Ronak; Biggs, Catherine M.; Hildebrand, Kyla J.; Lalani, Seema R.; Nicholas, Sarah K.; Scott, Daryl A.; Mostafavi, Sara; van Karnebeek, Clara; Henkelman, Erika; Halparin, Jessica; Yang, Connie L.; Armstrong, Linlea; Turvey, Stuart E.; Lehman, Anna; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Sessions Cole, F.; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Kennedy, Jennifer; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K. -G.; Tan, Amelia L. M.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-Kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Boycott, Kym; Brudno, Michael; Bernier, Francois; Dyment, David; Kernohan, Kristin; Innes, Micheil; Lamont, Ryan; Parboosingh, Jillian; Marshall, Deborah; Marshall, Christian; Mendoza, Roberto; Dowling, James; Hayeems, Robin; Knoppers, Bartha
Journal of Medical Genetics. 60:1092-1104
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Sessions Cole, F.; Colley, Heather A.; Cope, Heidi; Corner, Brian; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell’Angelica, Esteban C.; Dickson, Patricia; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Ezell, Kimberly; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Lawrence Merritt, J.; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Neumann, Serena; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Carl Pallais, J.; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Ron Scott, C.; Seto, Elaine; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Legro, Nicole R. ; Bowman, Angela ; Ugur, Berrak ; Jackstadt, Madelyn M. ; Shriver, Leah P. ; Patti, Gary J. ; Zhang, Bo ; Feng, Wenjia ; McAdow, Anthony R. ; Goddard, Pagé ; Jensen, Tanner ; Fresard, Laure ; Alvarez, Raquel ; McCormack, Colleen ; Holt, James M. ; Worthey, Elizabeth A. ; Montgomery, Stephen B. ; Postlethwait, John ; De Camilli, Pietro ; Solnica-Krezel, Lila
In Genetics in Medicine September 2024 26(9)
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, Audrey Stephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips III, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Seto, Elaine; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Weisz Hubshman, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Paul, Maimuna S. ; Michener, Sydney L. ; Pan, Hongling ; Chan, Hiuling ; Pfliger, Jessica M. ; Lerma, Vanesa C. ; Tran, Alyssa ; Longley, Megan A. ; Weisz-Hubshman, Monika ; Bekheirnia, Mir Reza ; Bekheirnia, Nasim ; Massingham, Lauren ; Zech, Michael ; Wagner, Matias ; Engels, Hartmut ; Cremer, Kirsten ; Mangold, Elisabeth ; Peters, Sophia ; Trautmann, Jessica ; Perne, Claudia ; Mester, Jessica L. ; Guillen Sacoto, Maria J. ; Person, Richard ; McDonnell, Pamela P. ; Cohen, Stacey R. ; Lusk, Laina ; Cohen, Ana S.A. ; Le Pichon, Jean-Baptiste ; Pastinen, Tomi ; Zhou, Dihong ; Engleman, Kendra ; Racine, Caroline ; Faivre, Laurence ; Moutton, Sébastien ; Denommé-Pichon, Anne-Sophie ; Koh, Hyun Yong ; Poduri, Annapurna ; Bolton, Jeffrey ; Knopp, Cordula ; Julia Suh, Dong Sun ; Maier, Andrea ; Toosi, Mehran Beiraghi ; Karimiani, Ehsan Ghayoor ; Maroofian, Reza ; Schaefer, Gerald Bradley ; Ramakumaran, Vijayalakshmi ; Vasudevan, Pradeep ; Banos-Pinero, Benito ; Pagnamenta, Alistair T. ; Prasad, Chitra ; Osmond, Matthew ; Schuhmann, Sarah ; Vasileiou, Georgia ; Russ-Hall, Sophie ; Scheffer, Ingrid E. ; Carvill, Gemma L.
In The American Journal of Human Genetics 4 January 2024 111(1):96-118
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Sessions Cole, F.; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dickson, Patricia; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John J.; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Carl Pallais, J.; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Seto, Elaine; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Halley, Meghan C. ; Young, Jennifer L. ; Tang, Charis ; Mintz, Kevin T. ; Lucas-Griffin, Sawyer ; Maghiro, AudreyStephannie ; Ashley, Euan A. ; Tabor, Holly K.
In The Journal of Pediatrics October 2023 261
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dickson, Patricia; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, Audrey Stephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Seto, Elaine; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Ganetzky, Rebecca ; Kranz, Peter G. ; Sondheimer, Neal ; Markert, M. Louise ; Sadeghpour, Azita ; Roehrs, Philip ; Arbogast, Thomas ; Muraresku, Colleen ; Tyndall, Amanda V. ; Esser, Michael J. ; Woodward, Kristine E. ; Ping-Yee Au, Billie ; Parboosingh, Jillian S. ; Lamont, Ryan E. ; Bernier, Francois P. ; Wright, Nicola A.M. ; Benseler, Susa M. ; Parsons, Simon J. ; El-Dairi, Mays ; Valdez, Purnima ; Tennison, Michael ; Innes, A. Micheil ; Davis, Erica E.
In Genetics in Medicine September 2023 25(9)
Academic Journal
Pujol‐Giménez, Jonai; Mirzaa, Ghayda; Blue, Elizabeth E.; Albano, Giuseppe; Miller, Danny E.; Allworth, Aimee; Bennett, James T.; Byers, Peter H.; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B.; Gillentine, Madelyn A.; Glass, Ian; Hing, Anne; Horike‐Pyne, Martha; Leppig, Kathleen A.; Parhin, Azma; Ranchalis, Jane; Raskind, Wendy H.; Rosenthal, Elisabeth A.; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P.; Timms, Andrew; Wener, Mark; Bamshad, Michael J.; Leal, Suzanne M.; Nickerson, Deborah A.; Anderson, Peter; Bacus, Tamara J.; Brower, Katherine; Buckingham, Kati J.; Chong, Jessica X.; Sánchez, Diana Cornejo; Davis, Colleen P.; Davis, Chayna J.; Frazar, Christian D.; Gomeztagle‐Burgess, Katherine; Gordon, William W.; Hurless, Jameson R.; Jarvik, Gail P.; Johanson, Eric; Kolar, J. Thomas; Marvin, Colby T.; Mcgee, Sean; Mcgoldrick, Daniel J.; Mekonnen, Betselote; Nielsen, Patrick M.; Patterson, Karynne; Radhakrishnan, Aparna; Richardson, Matthew A.; Roote, Gwendolin T.; Ryke, Erica L.; Schrauwen, Isabelle; Shively, Kathryn M.; Smith, Joshua D.; Tackett, Monica; Wang, Gao; Weiss, Jeffrey M.; Wheeler, Marsha M.; Yi, Qian; Zhang, Xiaohong; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak‐Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg‐Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chao, Hsiao‐Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D' Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden‐Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Jeffrey; Jayadev, Suman; Jean‐Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Leblanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; Macrae, Calum A.; Maduro, Valerie V.; Maghiro, Audreystephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez‐Agosto, Julian A.; Marwaha, Shruti; Mccauley, Jacob; Mcconkie‐Rosell, Allyn; Mccray, Alexa T.; Mcgee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano‐Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves‐Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Swerdzewski, Barbara N. Pusey; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica‐Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.‐G.; Tan, Amelia L.M.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee‐Kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika W.; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Dipple, Katrina M.; Hediger, Matthias A.; Stergachis, Andrew B.
Annals of Clinical and Translational Neurology. June, 2023, Vol. 10 Issue 6, p1046, 1053 p.
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips III, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Weisz Hubshman, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Nigro, Vincenzo; Torella, Annalaura; Morleo, Manuela; Spampanato, Carmine; Pinelli, Michele; Banfi, Sandro; Varavallo, Alessandra; Selicorni, Angelo; Mariani, Milena; Massimello, Marta; Daolio, Cecilia; Capra, Valeria; Accogli, Andrea; Scala, Marcello; Leuzzi, Vincenzo; Nardecchia, Francesca; Galosi, Serena; Mastrangelo, Mario; Milani, Donatella; Vitiello, Giuseppina; Piluso, Giulio; Romano, Corrado; Failla, Pinella; Greco, Donatella; Pantaleoni, Chiara; Ciaccio, Claudia; D’Arrigo, Stefano; Brunetti Pierri, Nicola; Parenti, Giancarlo; Coppola, Antonietta; Mattina, Teresa; Zollino, Marcella; Amenta, Simona; Tummolo, Albina; Santoro, Claudia; Grandone, Anna; De Brasi, Daniele; Varone, Antonio; Garavelli, Livia; Marini, Carla; Bigoni, Stefania; Piscopo, Carmelo; Trabacca, Antonio; De Rinaldis, Marta; Peron, Angela; Venditti, Rossella ; Theodorou, Evangelos ; Rosello, Marion ; Tirozzi, Alfonsina ; Tammaro, Roberta ; Al-Badri, Nour ; High, Frances A. ; Shi, Jiahai ; Putti, Elena ; Ferrante, Luigi ; Cetrangolo, Viviana ; Walker, Melissa A. ; Tenconi, Romano ; Iascone, Maria ; Mei, Davide ; Guerrini, Renzo ; van der Smagt, Jasper ; Kroes, Hester Y. ; van Gassen, Koen L.I. ; Bilal, Muhammad ; Umair, Muhammad ; Pingault, Veronica ; Attie-Bitach, Tania ; Amiel, Jeannine ; Ejaz, Resham ; Rodan, Lance ; Agrawal, Pankaj B. ; Del Bene, Filippo ; Franco, Brunella
In The American Journal of Human Genetics 3 August 2023 110(8):1377-1393
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Kennedy, Jennifer; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Andrews, Jonathan C. ; Mok, Jung-Wan ; Kanca, Oguz ; Jangam, Sharayu ; Tifft, Cynthia ; Russell, Bianca E.
In Genetics in Medicine June 2023 25(6)
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Academic Journal
Rodan, Lance H. ; Spillmann, Rebecca C. ; Kurata, Harley T. ; Lamothe, Shawn M. ; Maghera, Jasmine ; Jamra, Rami Abou ; Alkelai, Anna ; Antonarakis, Stylianos E. ; Atallah, Isis ; Bar-Yosef, Omer ; Bilan, Frédéric ; Bjorgo, Kathrine ; Blanc, Xavier ; Van Bogaert, Patrick ; Bolkier, Yoav ; Burrage, Lindsay C. ; Christ, Björn U. ; Granadillo, Jorge L. ; Dickson, Patricia ; Donald, Kirsten A. ; Dubourg, Christèle ; Eliyahu, Aviva ; Emrick, Lisa ; Engleman, Kendra ; Gonfiantini, Michaela Veronika ; Good, Jean-Marc ; Kalser, Judith ; Kloeckner, Chiara ; Lachmeijer, Guus ; Macchiaiolo, Marina ; Nicita, Francesco ; Odent, Sylvie ; O’Heir, Emily ; Ortiz-Gonzalez, Xilma ; Pacio-Miguez, Marta ; Palomares-Bralo, María ; Pena, Loren ; Platzer, Konrad ; Quinodoz, Mathieu ; Ranza, Emmanuelle ; Rosenfeld, Jill A. ; Roulet-Perez, Eliane ; Santani, Avni ; Santos-Simarro, Fernando ; Pode-Shakked, Ben ; Skraban, Cara ; Slaugh, Rachel ; Superti-Furga, Andrea ; Thiffault, Isabelle ; van Jaabrsveld, Richard H. ; Vincent, Marie ; Wang, Hong-Gang ; Zacher, Pia ; Alejandro, Mercedes E. ; Azamian, Mahshid S. ; Bacino, Carlos A. ; Balasubramanyam, Ashok ; Chao, Hsiao-Tuan ; Clark, Gary D. ; Craigen, William J. ; Dai, Hongzheng ; Dhar, Shweta U. ; Emrick, Lisa T. ; Goldman, Alica M. ; Hanchard, Neil A. ; Jamal, Fariha ; Karaviti, Lefkothea ; Lalani, Seema R. ; Lee, Brendan H. ; Lewis, Richard A. ; Marom, Ronit ; Moretti, Paolo M. ; Murdock, David R. ; Nicholas, Sarah K. ; Orengo, James P. ; Posey, Jennifer E. ; Potocki, Lorraine ; Samson, Susan L. ; Scott, Daryl A. ; Tran, Alyssa A. ; Vogel, Tiphanie P. ; Wangler, Michael F. ; Yamamoto, Shinya ; Eng, Christine M. ; Liu, Pengfei ; Ward, Patricia A. ; Behrens, Edward ; Deardorff, Matthew ; Falk, Marni ; Hassey, Kelly ; Sullivan, Kathleen ; Vanderver, Adeline ; Goldstein, David B. ; Cope, Heidi ; McConkie-Rosell, Allyn ; Schoch, Kelly ; Shashi, Vandana ; Smith, Edward C. ; Sullivan, Jennifer A. ; Tan, Queenie K.-G. ; Walley, Nicole M. ; Agrawal, Pankaj B. ; Beggs, Alan H. ; Berry, Gerard T. ; Briere, Lauren C. ; Cobban, Laurel A. ; Coggins, Matthew ; Cooper, Cynthia M. ; Fieg, Elizabeth L. ; High, Frances ; Holm, Ingrid A. ; Korrick, Susan ; Krier, Joel B. ; Lincoln, Sharyn A. ; Loscalzo, Joseph ; Maas, Richard L. ; MacRae, Calum A. ; Pallais, J. Carl ; Rao, Deepak A. ; Silverman, Edwin K. ; Stoler, Joan M. ; Sweetser, David A. ; Walker, Melissa ; Walsh, Chris A. ; Esteves, Cecilia ; Kelley, Emily G. ; Kohane, Isaac S. ; LeBlanc, Kimberly ; McCray, Alexa T. ; Nagy, Anna ; Dasari, Surendra ; Lanpher, Brendan C. ; Lanza, Ian R. ; Morava, Eva ; Oglesbee, Devin ; Bademci, Guney ; Barbouth, Deborah ; Bivona, Stephanie ; Carrasquillo, Olveen ; Chang, Ta Chen Peter ; Forghani, Irman ; Grajewski, Alana ; Isasi, Rosario ; Lam, Byron ; Levitt, Roy ; Liu, Xue Zhong ; McCauley, Jacob ; Sacco, Ralph ; Saporta, Mario ; Schaechter, Judy ; Tekin, Mustafa ; Telischi, Fred ; Thorson, Willa ; Zuchner, Stephan ; Colley, Heather A. ; Dayal, Jyoti G. ; Eckstein, David J. ; Findley, Laurie C. ; Krasnewich, Donna M. ; Mamounas, Laura A. ; Manolio, Teri A. ; Mulvihill, John J. ; LaMoure, Grace L. ; Goldrich, Madison P. ; Urv, Tiina K. ; Doss, Argenia L. ; Acosta, Maria T. ; Bonnenmann, Carsten ; D’Souza, Precilla ; Draper, David D. ; Ferreira, Carlos ; Godfrey, Rena A. ; Groden, Catherine A. ; Macnamara, Ellen F. ; Maduro, Valerie V. ; Markello, Thomas C. ; Nath, Avi ; Novacic, Donna ; Pusey, Barbara N. ; Toro, Camilo ; Wahl, Colleen E. ; Baker, Eva ; Burke, Elizabeth A. ; Adams, David R. ; Gahl, William A. ; Malicdan, May Christine V. ; Tifft, Cynthia J. ; Wolfe, Lynne A. ; Yang, John ; Power, Bradley ; Gochuico, Bernadette ; Huryn, Laryssa ; Latham, Lea ; Davis, Joie ; Mosbrook-Davis, Deborah ; Rossignol, Francis ; Ben Solomon ; MacDowall, John ; Thurm, Audrey ; Zein, Wadih ; Yousef, Muhammad ; Adam, Margaret ; Amendola, Laura ; Bamshad, Michael ; Beck, Anita ; Bennett, Jimmy ; Berg-Rood, Beverly ; Blue, Elizabeth ; Boyd, Brenna ; Byers, Peter ; Chanprasert, Sirisak ; Cunningham, Michael ; Dipple, Katrina ; Doherty, Daniel ; Earl, Dawn ; Glass, Ian ; Golden-Grant, Katie ; Hahn, Sihoun ; Hing, Anne ; Hisama, Fuki M. ; Horike-Pyne, Martha ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Jayadev, Suman ; Lam, Christina ; Maravilla, Kenneth ; Mefford, Heather ; Merritt, J. Lawrence ; Mirzaa, Ghayda ; Nickerson, Deborah ; Raskind, Wendy ; Rosenwasser, Natalie ; Scott, C. Ron ; Sun, Angela ; Sybert, Virginia ; Wallace, Stephanie ; Wener, Mark ; Wenger, Tara ; Ashley, Euan A. ; Bejerano, Gill ; Bernstein, Jonathan A. ; Bonner, Devon ; Coakley, Terra R. ; Fernandez, Liliana ; Fisher, Paul G. ; Fresard, Laure ; Hom, Jason ; Huang, Yong ; Kohler, Jennefer N. ; Kravets, Elijah ; Majcherska, Marta M. ; Martin, Beth A. ; Marwaha, Shruti ; McCormack, Colleen E. ; Raja, Archana N. ; Reuter, Chloe M. ; Ruzhnikov, Maura ; Sampson, Jacinda B. ; Smith, Kevin S. ; Sutton, Shirley ; Tabor, Holly K. ; Tucker, Brianna M. ; Wheeler, Matthew T. ; Zastrow, Diane B. ; Zhao, Chunli ; Byrd, William E. ; Crouse, Andrew B. ; Might, Matthew ; Nakano-Okuno, Mariko ; Whitlock, Jordan ; Brown, Gabrielle ; Butte, Manish J. ; Dell’Angelica, Esteban C. ; Dorrani, Naghmeh ; Douine, Emilie D. ; Fogel, Brent L. ; Gutierrez, Irma ; Huang, Alden ; Krakow, Deborah ; Lee, Hane ; Loo, Sandra K. ; Mak, Bryan C. ; Martin, Martin G. ; Martínez-Agosto, Julian A. ; McGee, Elisabeth ; Nelson, Stanley F. ; Nieves-Rodriguez, Shirley ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Parker, Neil H. ; Renteria, Genecee ; Signer, Rebecca H. ; Sinsheimer, Janet S. ; Wan, Jijun ; Wang, Lee-kai ; Perry, Katherine Wesseling ; Woods, Jeremy D. ; Alvey, Justin ; Andrews, Ashley ; Bale, Jim ; Bohnsack, John ; Botto, Lorenzo ; Carey, John ; Pace, Laura ; Longo, Nicola ; Marth, Gabor ; Moretti, Paolo ; Quinlan, Aaron ; Velinder, Matt ; Viskochil, Dave ; Bayrak-Toydemir, Pinar ; Mao, Rong ; Westerfield, Monte ; Bican, Anna ; Brokamp, Elly ; Duncan, Laura ; Hamid, Rizwan ; Kennedy, Jennifer ; Kozuira, Mary ; Newman, John H. ; PhillipsIII, John A. ; Rives, Lynette ; Robertson, Amy K. ; Solem, Emily ; Cogan, Joy D. ; Cole, F. Sessions ; Hayes, Nichole ; Kiley, Dana ; Sisco, Kathy ; Wambach, Jennifer ; Wegner, Daniel ; Baldridge, Dustin ; Pak, Stephen ; Schedl, Timothy ; Shin, Jimann ; Solnica-Krezel, Lilianna ; Rush, Eric ; Pitt, Geoffrey S. ; Au, Ping Yee Billie
In Genetics in Medicine October 2021 23(10):1922-1932
Academic Journal
Marbach, Felix ; Stoyanov, Georgi ; Erger, Florian ; Stratakis, Constantine A. ; Settas, Nikolaos ; London, Edra ; Rosenfeld, Jill A. ; Torti, Erin ; Haldeman-Englert, Chad ; Sklirou, Evgenia ; Kessler, Elena ; Ceulemans, Sophia ; Nelson, Stanley F. ; Martinez-Agosto, Julian A. ; Palmer, Christina G.S. ; Signer, Rebecca H. ; Acosta, Maria T. ; Adam, Margaret ; Adams, David R. ; Agrawal, Pankaj B. ; Alejandro, Mercedes E. ; Alvey, Justin ; Amendola, Laura ; Andrews, Ashley ; Ashley, Euan A. ; Azamian, Mahshid S. ; Bacino, Carlos A. ; Bademci, Guney ; Baker, Eva ; Balasubramanyam, Ashok ; Baldridge, Dustin ; Bale, Jim ; Bamshad, Michael ; Barbouth, Deborah ; Bayrak-Toydemir, Pinar ; Beck, Anita ; Beggs, Alan H. ; Behrens, Edward ; Bejerano, Gill ; Bennett, Jimmy ; Berg-Rood, Beverly ; Bernstein, Jonathan A. ; Berry, Gerard T. ; Bican, Anna ; Bivona, Stephanie ; Blue, Elizabeth ; Bohnsack, John ; Bonnenmann, Carsten ; Bonner, Devon ; Botto, Lorenzo ; Boyd, Brenna ; Briere, Lauren C. ; Brokamp, Elly ; Brown, Gabrielle ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Butte, Manish J. ; Byers, Peter ; Byrd, William E. ; Carey, John ; Carrasquillo, Olveen ; Chang, Ta Chen Peter ; Chanprasert, Sirisak ; Chao, Hsiao-Tuan ; Clark, Gary D. ; Coakley, Terra R. ; Cobban, Laurel A. ; Cogan, Joy D. ; Coggins, Matthew ; Cole, F. Sessions ; Colley, Heather A. ; Cooper, Cynthia M. ; Cope, Heidi ; Craigen, William J. ; Crouse, Andrew B. ; Cunningham, Michael ; D’Souza, Precilla ; Dai, Hongzheng ; Dasari, Surendra ; Davis, Joie ; Daya, Jyoti G. ; Deardorff, Matthew ; Dell’Angelica, Esteban C. ; Dhar, Shweta U. ; Dipple, Katrina ; Doherty, Daniel ; Dorrani, Naghmeh ; Doss, Argenia L. ; Douine, Emilie D. ; Draper, David D. ; Duncan, Laura ; Earl, Dawn ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Esteves, Cecilia ; Falk, Marni ; Fernandez, Liliana ; Ferreira, Carlos ; Fieg, Elizabeth L. ; Findley, Laurie C. ; Fisher, Paul G. ; Fogel, Brent L. ; Forghani, Irman ; Fresard, Laure ; Gahl, William A. ; Glass, Ian ; Gochuico, Bernadette ; Godfrey, Rena A. ; Golden-Grant, Katie ; Goldman, Alica M. ; Goldrich, Madison P. ; Goldstein, David B. ; Grajewski, Alana ; Groden, Catherine A. ; Gutierrez, Irma ; Hahn, Sihoun ; Hamid, Rizwan ; Hanchard, Neil A. ; Hassey, Kelly ; Hayes, Nichole ; High, Frances ; Hing, Anne ; Hisama, Fuki M. ; Holm, Ingrid A. ; Hom, Jason ; Horike-Pyne, Martha ; Huang, Alden ; Huang, Yong ; Huryn, Laryssa ; Isasi, Rosario ; Jamal, Fariha ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Jayadev, Suman ; Karaviti, Lefkothea ; Kennedy, Jennifer ; Kiley, Dana ; Kohane, Isaac S. ; Kohler, Jennefer N. ; Korrick, Susan ; Kozuira, Mary ; Krakow, Deborah ; Krasnewich, Donna M. ; Kravets, Elijah ; Krier, Joel B. ; LaMoure, Grace L. ; Lalani, Seema R. ; Lam, Byron ; Lam, Christina ; Lanpher, Brendan C. ; Lanza, Ian R. ; Latham, Lea ; LeBlanc, Kimberly ; Lee, Brendan H. ; Lee, Hane ; Levitt, Roy ; Lewis, Richard A. ; Lincoln, Sharyn A. ; Liu, Pengfei ; Liu, Xue Zhong ; Longo, Nicola ; Loo, Sandra K. ; Loscalzo, Joseph ; Maas, Richard L. ; MacDowall, John ; MacRae, Calum A. ; Macnamara, Ellen F. ; Maduro, Valerie V. ; Majcherska, Marta M. ; Mak, Bryan C. ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Manolio, Teri A. ; Mao, Rong ; Maravilla, Kenneth ; Markello, Thomas C. ; Marom, Ronit ; Marth, Gabor ; Martin, Beth A. ; Martin, Martin G. ; Marwaha, Shruti ; McCauley, Jacob ; McConkie-Rosell, Allyn ; McCormack, Colleen E. ; McCray, Alexa T. ; McGee, Elisabeth ; Mefford, Heather ; Merritt, J. Lawrence ; Might, Matthew ; Mirzaa, Ghayda ; Morava, Eva ; Moretti, Paolo M. ; Moretti, Paolo ; Mosbrook-Davis, Deborah ; Mulvihill, John J. ; Murdock, David R. ; Nagy, Anna ; Nakano-Okuno, Mariko ; Nath, Avi ; Newman, John H. ; Nicholas, Sarah K. ; Nickerson, Deborah ; Nieves-Rodriguez, Shirley ; Novacic, Donna ; Oglesbee, Devin ; Orengo, James P. ; Pace, Laura ; Pak, Stephen ; Pallais, J. Carl ; Papp, Jeanette C. ; Parker, Neil H. ; Phillips, John A., III ; Posey, Jennifer E. ; Potocki, Lorraine ; Power, Bradley ; Pusey, Barbara N. ; Quinlan, Aaron ; Raja, Archana N. ; Rao, Deepak A. ; Raskind, Wendy ; Renteria, Genecee ; Reuter, Chloe M. ; Rives, Lynette ; Robertson, Amy K. ; Rodan, Lance H. ; Rosenwasser, Natalie ; Rossignol, Francis ; Ruzhnikov, Maura ; Sacco, Ralph ; Sampson, Jacinda B. ; Samson, Susan L. ; Saporta, Mario ; Schaechter, Judy ; Schedl, Timothy ; Schoch, Kelly ; Scott, C. Ron ; Scott, Daryl A. ; Shashi, Vandana ; Shin, Jimann ; Silverman, Edwin K. ; Sinsheimer, Janet S. ; Sisco, Kathy ; Smith, Edward C. ; Smith, Kevin S. ; Solem, Emily ; Solnica-Krezel, Lilianna ; Ben Solomon ; Spillmann, Rebecca C. ; Stoler, Joan M. ; Sullivan, Jennifer A. ; Sullivan, Kathleen ; Sun, Angela ; Sutton, Shirley ; Sweetser, David A. ; Sybert, Virginia ; Tabor, Holly K. ; Tan, Amelia L.M. ; Tan, Queenie K.-G. ; Tekin, Mustafa ; Telischi, Fred ; Thorson, Willa ; Thurm, Audrey ; Tifft, Cynthia J. ; Toro, Camilo ; Tran, Alyssa A. ; Tucker, Brianna M. ; Urv, Tiina K. ; Vanderver, Adeline ; Velinder, Matt ; Viskochil, Dave ; Vogel, Tiphanie P. ; Wahl, Colleen E. ; Walker, Melissa ; Wallace, Stephanie ; Walley, Nicole M. ; Walsh, Chris A. ; Wambach, Jennifer ; Wan, Jijun ; Wang, Lee-kai ; Wangler, Michael F. ; Ward, Patricia A. ; Wegner, Daniel ; Wener, Mark ; Wenger, Tara ; Perry, Katherine Wesseling ; Westerfield, Monte ; Wheeler, Matthew T. ; Whitlock, Jordan ; Wolfe, Lynne A. ; Woods, Jeremy D. ; Yamamoto, Shinya ; Yang, John ; Yousef, Muhammad ; Zastrow, Diane B. ; Zein, Wadih ; Zhao, Chunli ; Zuchner, Stephan ; Andrews, Marisa V. ; Grange, Dorothy K. ; Willaert, Rebecca ; Person, Richard ; Telegrafi, Aida ; Sievers, Aaron ; Laugsch, Magdalena ; Theiß, Susanne ; Cheng, YuZhu ; Lichtarge, Olivier ; Katsonis, Panagiotis ; Stocco, Amber ; Schaaf, Christian P.
In Genetics in Medicine August 2021 23(8):1465-1473
Academic Journal
Kobren, Shilpa Nadimpalli ; Baldridge, Dustin ; Velinder, Matt ; Krier, Joel B. ; LeBlanc, Kimberly ; Esteves, Cecilia ; Pusey, Barbara N. ; Züchner, Stephan ; Blue, Elizabeth ; Lee, Hane ; Huang, Alden ; Bastarache, Lisa ; Bican, Anna ; Cogan, Joy ; Marwaha, Shruti ; Alkelai, Anna ; Murdock, David R. ; Liu, Pengfei ; Wegner, Daniel J. ; Paul, Alexander J. ; Acosta, Maria T. ; Adam, Margaret ; Adams, David R. ; Agrawal, Pankaj B. ; Alejandro, Mercedes E. ; Alvey, Justin ; Amendola, Laura ; Andrews, Ashley ; Ashley, Euan A. ; Azamian, Mahshid S. ; Bacino, Carlos A. ; Bademci, Guney ; Baker, Eva ; Balasubramanyam, Ashok ; Bale, Jim ; Bamshad, Michael ; Barbouth, Deborah ; Bayrak-Toydemir, Pinar ; Beck, Anita ; Beggs, Alan H. ; Behrens, Edward ; Bejerano, Gill ; Bennett, Jimmy ; Berg-Rood, Beverly ; Bernstein, Jonathan A. ; Berry, Gerard T. ; Bivona, Stephanie ; Bohnsack, John ; Bonnenmann, Carsten ; Bonner, Devon ; Botto, Lorenzo ; Boyd, Brenna ; Briere, Lauren C. ; Brokamp, Elly ; Brown, Gabrielle ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Butte, Manish J. ; Byers, Peter ; Byrd, William E. ; Carey, John ; Carrasquillo, Olveen ; Chang, Ta Chen Peter ; Chanprasert, Sirisak ; Chao, Hsiao-Tuan ; Clark, Gary D. ; Coakley, Terra R. ; Cobban, Laurel A. ; Cogan, Joy D. ; Coggins, Matthew ; Cole, F. Sessions ; Colley, Heather A. ; Cooper, Cynthia M. ; Cope, Heidi ; Craigen, William J. ; Crouse, Andrew B. ; Cunningham, Michael ; D’Souza, Precilla ; Dai, Hongzheng ; Dasari, Surendra ; Davis, Joie ; Daya, Jyoti G. ; Deardorff, Matthew ; Dell’Angelica, Esteban C. ; Dhar, Shweta U. ; Dipple, Katrina ; Doherty, Daniel ; Dorrani, Naghmeh ; Doss, Argenia L. ; Douine, Emilie D. ; Draper, David D. ; Duncan, Laura ; Earl, Dawn ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Falk, Marni ; Fernandez, Liliana ; Ferreira, Carlos ; Fieg, Elizabeth L. ; Findley, Laurie C. ; Fisher, Paul G. ; Fogel, Brent L. ; Forghani, Irman ; Fresard, Laure ; Gahl, William A. ; Glass, Ian ; Gochuico, Bernadette ; Godfrey, Rena A. ; Golden-Grant, Katie ; Goldman, Alica M. ; Goldrich, Madison P. ; Goldstein, David B. ; Grajewski, Alana ; Groden, Catherine A. ; Gutierrez, Irma ; Hahn, Sihoun ; Hamid, Rizwan ; Hanchard, Neil A. ; Hassey, Kelly ; Hayes, Nichole ; High, Frances ; Hing, Anne ; Hisama, Fuki M. ; Holm, Ingrid A. ; Hom, Jason ; Horike-Pyne, Martha ; Huang, Yong ; Huryn, Laryssa ; Isasi, Rosario ; Jamal, Fariha ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Jayadev, Suman ; Karaviti, Lefkothea ; Kennedy, Jennifer ; Kiley, Dana ; Kohane, Isaac S. ; Kohler, Jennefer N. ; Korrick, Susan ; Kozuira, Mary ; Krakow, Deborah ; Krasnewich, Donna M. ; Kravets, Elijah ; LaMoure, Grace L. ; Lalani, Seema R. ; Lam, Byron ; Lam, Christina ; Lanpher, Brendan C. ; Lanza, Ian R. ; Latham, Lea ; Lee, Brendan H. ; Levitt, Roy ; Lewis, Richard A. ; Lincoln, Sharyn A. ; Liu, Xue Zhong ; Longo, Nicola ; Loo, Sandra K. ; Loscalzo, Joseph ; Maas, Richard L. ; MacDowall, John ; MacRae, Calum A. ; Macnamara, Ellen F. ; Maduro, Valerie V. ; Majcherska, Marta M. ; Mak, Bryan C. ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Manolio, Teri A. ; Mao, Rong ; Maravilla, Kenneth ; Markello, Thomas C. ; Marom, Ronit ; Marth, Gabor ; Martin, Beth A. ; Martin, Martin G. ; Martinez-Agosto, Julian A. ; McCauley, Jacob ; McConkie-Rosell, Allyn ; McCormack, Colleen E. ; McCray, Alexa T. ; McGee, Elisabeth ; Mefford, Heather ; Merritt, J. Lawrence ; Might, Matthew ; Mirzaa, Ghayda ; Morava, Eva ; Moretti, Paolo M. ; Moretti, Paolo ; Mosbrook-Davis, Deborah ; Mulvihill, John J. ; Nagy, Anna ; Nakano-Okuno, Mariko ; Nath, Avi ; Nelson, Stanley F. ; Newman, John H. ; Nicholas, Sarah K. ; Nickerson, Deborah ; Nieves-Rodriguez, Shirley ; Novacic, Donna ; Oglesbee, Devin ; Orengo, James P. ; Pace, Laura ; Pak, Stephen ; Pallais, J. Carl ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Parker, Neil H. ; Phillips, John A., III ; Posey, Jennifer E. ; Potocki, Lorraine ; Power, Bradley ; Quinlan, Aaron ; Raja, Archana N. ; Rao, Deepak A. ; Raskind, Wendy ; Renteria, Genecee ; Reuter, Chloe M. ; Rives, Lynette ; Robertson, Amy K. ; Rodan, Lance H. ; Rosenfeld, Jill A. ; Rosenwasser, Natalie ; Rossignol, Francis ; Ruzhnikov, Maura ; Sacco, Ralph ; Sampson, Jacinda B. ; Samson, Susan L. ; Saporta, Mario ; Schaechter, Judy ; Schedl, Timothy ; Schoch, Kelly ; Scott, C. Ron ; Scott, Daryl A. ; Shashi, Vandana ; Shin, Jimann ; Signer, Rebecca H. ; Silverman, Edwin K. ; Sinsheimer, Janet S. ; Sisco, Kathy ; Smith, Edward C. ; Smith, Kevin S. ; Solem, Emily ; Solnica-Krezel, Lilianna ; Ben Solomon ; Spillmann, Rebecca C. ; Stoler, Joan M. ; Sullivan, Jennifer A. ; Sullivan, Kathleen ; Sun, Angela ; Sutton, Shirley ; Sweetser, David A. ; Sybert, Virginia ; Tabor, Holly K. ; Tan, Amelia L.M. ; Tan, Queenie K.-G. ; Tekin, Mustafa ; Telischi, Fred ; Thorson, Willa ; Thurm, Audrey ; Tifft, Cynthia J. ; Toro, Camilo ; Tran, Alyssa A. ; Tucker, Brianna M. ; Urv, Tiina K. ; Vanderver, Adeline ; Viskochil, Dave ; Vogel, Tiphanie P. ; Wahl, Colleen E. ; Walker, Melissa ; Wallace, Stephanie ; Walley, Nicole M. ; Walsh, Chris A. ; Wambach, Jennifer ; Wan, Jijun ; Wang, Lee-kai ; Wangler, Michael F. ; Ward, Patricia A. ; Wegner, Daniel ; Wener, Mark ; Wenger, Tara ; Perry, Katherine Wesseling ; Westerfield, Monte ; Wheeler, Matthew T. ; Whitlock, Jordan ; Wolfe, Lynne A. ; Woods, Jeremy D. ; Yamamoto, Shinya ; Yang, John ; Yousef, Muhammad ; Zastrow, Diane B. ; Zein, Wadih ; Zhao, Chunli ; Zuchner, Stephan ; Sunyaev, Shamil R.
In Genetics in Medicine June 2021 23(6):1075-1085
Academic Journal
Ferdinandusse, Sacha ; McWalter, Kirsty ; te Brinke, Heleen ; IJlst, Lodewijk ; Mooijer, Petra M. ; Ruiter, Jos P.N. ; van Lint, Alida E.M. ; Pras-Raves, Mia ; Wever, Eric ; Millan, Francisca ; Guillen Sacoto, Maria J. ; Begtrup, Amber ; Tarnopolsky, Mark ; Brady, Lauren ; Ladda, Roger L. ; Sell, Susan L. ; Nowak, Catherine B. ; Douglas, Jessica ; Tian, Cuixia ; Ulm, Elizabeth ; Perlman, Seth ; Drack, Arlene V. ; Chong, Karen ; Martin, Nicole ; Brault, Jennifer ; Brokamp, Elly ; Toro, Camilo ; Gahl, William A. ; Macnamara, Ellen F. ; Wolfe, Lynne ; Alejandro, Mercedes E. ; Azamian, Mahshid S. ; Bacino, Carlos A. ; Balasubramanyam, Ashok ; Burrage, Lindsay C. ; Chao, Hsiao-Tuan ; Clark, Gary D. ; Craigen, William J. ; Dai, Hongzheng ; Dhar, Shweta U. ; Emrick, Lisa T. ; Goldman, Alica M. ; Hanchard, Neil A. ; Jamal, Fariha ; Karaviti, Lefkothea ; Lalani, Seema R. ; Lee, Brendan H. ; Lewis, Richard A. ; Marom, Ronit ; Moretti, Paolo M. ; Murdock, David R. ; Nicholas, Sarah K. ; Orengo, James P. ; Posey, Jennifer E. ; Potocki, Lorraine ; Rosenfeld, Jill A. ; Samson, Susan L. ; Scott, Daryl A. ; Tran, Alyssa A. ; Vogel, Tiphanie P. ; Wangler, Michael F. ; Yamamoto, Shinya ; Eng, Christine M. ; Liu, Pengfei ; Ward, Patricia A. ; Behrens, Edward ; Deardorff, Matthew ; Falk, Marni ; Hassey, Kelly ; Sullivan, Kathleen ; Vanderver, Adeline ; Goldstein, David B. ; Cope, Heidi ; McConkie-Rosell, Allyn ; Schoch, Kelly ; Shashi, Vandana ; Smith, Edward C. ; Spillmann, Rebecca C. ; Sullivan, Jennifer A. ; Tan, Queenie K.-G. ; Walley, Nicole M. ; Agrawal, Pankaj B. ; Beggs, Alan H. ; Berry, Gerard T. ; Briere, Lauren C. ; Cobban, Laurel A. ; Coggins, Matthew ; Cooper, Cynthia M. ; Fieg, Elizabeth L. ; High, Frances ; Holm, Ingrid A. ; Korrick, Susan ; Krier, Joel B. ; Lincoln, Sharyn A. ; Loscalzo, Joseph ; Maas, Richard L. ; MacRae, Calum A. ; Pallais, J. Carl ; Rao, Deepak A. ; Rodan, Lance H. ; Silverman, Edwin K. ; Stoler, Joan M. ; Sweetser, David A. ; Walker, Melissa ; Walsh, Chris A. ; Esteves, Cecilia ; Kelley, Emily G. ; Kohane, Isaac S. ; LeBlanc, Kimberly ; McCray, Alexa T. ; Nagy, Anna ; Dasari, Surendra ; Lanpher, Brendan C. ; Lanza, Ian R. ; Morava, Eva ; Oglesbee, Devin ; Bademci, Guney ; Barbouth, Deborah ; Bivona, Stephanie ; Carrasquillo, Olveen ; Chang, Ta Chen Peter ; Forghani, Irman ; Grajewski, Alana ; Isasi, Rosario ; Lam, Byron ; Levitt, Roy ; Liu, Xue Zhong ; McCauley, Jacob ; Sacco, Ralph ; Saporta, Mario ; Schaechter, Judy ; Tekin, Mustafa ; Telischi, Fred ; Thorson, Willa ; Zuchner, Stephan ; Colley, Heather A. ; Dayal, Jyoti G. ; Eckstein, David J. ; Findley, Laurie C. ; Krasnewich, Donna M. ; Mamounas, Laura A. ; Manolio, Teri A. ; Mulvihill, John J. ; LaMoure, Grace L. ; Goldrich, Madison P. ; Urv, Tiina K. ; Doss, Argenia L. ; Acosta, Maria T. ; Bonnenmann, Carsten ; D’Souza, Precilla ; Draper, David D. ; Ferreira, Carlos ; Godfrey, Rena A. ; Groden, Catherine A. ; Maduro, Valerie V. ; Markello, Thomas C. ; Nath, Avi ; Novacic, Donna ; Pusey, Barbara N. ; Wahl, Colleen E. ; Baker, Eva ; Burke, Elizabeth A. ; Adams, David R. ; Malicdan, May Christine V. ; Tifft, Cynthia J. ; Wolfe, Lynne A. ; Yang, John ; Power, Bradley ; Gochuico, Bernadette ; Huryn, Laryssa ; Latham, Lea ; Davis, Joie ; Mosbrook-Davis, Deborah ; Rossignol, Francis ; Solomon, Ben ; MacDowall, John ; Thurm, Audrey ; Zein, Wadih ; Yousef, Muhammad ; Adam, Margaret ; Amendola, Laura ; Bamshad, Michael ; Beck, Anita ; Bennett, Jimmy ; Berg-Rood, Beverly ; Blue, Elizabeth ; Boyd, Brenna ; Byers, Peter ; Chanprasert, Sirisak ; Cunningham, Michael ; Dipple, Katrina ; Doherty, Daniel ; Earl, Dawn ; Glass, Ian ; Golden-Grant, Katie ; Hahn, Sihoun ; Hing, Anne ; Hisama, Fuki M. ; Horike-Pyne, Martha ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Jayadev, Suman ; Lam, Christina ; Maravilla, Kenneth ; Mefford, Heather ; Merritt, J. Lawrence ; Mirzaa, Ghayda ; Nickerson, Deborah ; Raskind, Wendy ; Rosenwasser, Natalie ; Scott, C. Ron ; Sun, Angela ; Sybert, Virginia ; Wallace, Stephanie ; Wener, Mark ; Wenger, Tara ; Ashley, Euan A. ; Bejerano, Gill ; Bernstein, Jonathan A. ; Bonner, Devon ; Coakley, Terra R. ; Fernandez, Liliana ; Fisher, Paul G. ; Fresard, Laure ; Hom, Jason ; Huang, Yong ; Kohler, Jennefer N. ; Kravets, Elijah ; Majcherska, Marta M. ; Martin, Beth A. ; Marwaha, Shruti ; McCormack, Colleen E. ; Raja, Archana N. ; Reuter, Chloe M. ; Ruzhnikov, Maura ; Sampson, Jacinda B. ; Smith, Kevin S. ; Sutton, Shirley ; Tabor, Holly K. ; Tucker, Brianna M. ; Wheeler, Matthew T. ; Zastrow, Diane B. ; Zhao, Chunli ; Byrd, William E. ; Crouse, Andrew B. ; Might, Matthew ; Nakano-Okuno, Mariko ; Whitlock, Jordan ; Brown, Gabrielle ; Butte, Manish J. ; Dell’Angelica, Esteban C. ; Dorrani, Naghmeh ; Douine, Emilie D. ; Fogel, Brent L. ; Gutierrez, Irma ; Huang, Alden ; Krakow, Deborah ; Lee, Hane ; Loo, Sandra K. ; Mak, Bryan C. ; Martin, Martin G. ; Martínez-Agosto, Julian A. ; McGee, Elisabeth ; Nelson, Stanley F. ; Nieves-Rodriguez, Shirley ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Parker, Neil H. ; Renteria, Genecee ; Signer, Rebecca H. ; Sinsheimer, Janet S. ; Wan, Jijun ; Wang, Lee-kai ; Perry, Katherine Wesseling ; Woods, Jeremy D. ; Alvey, Justin ; Andrews, Ashley ; Bale, Jim ; Bohnsack, John ; Botto, Lorenzo ; Carey, John ; Pace, Laura ; Longo, Nicola ; Marth, Gabor ; Moretti, Paolo ; Quinlan, Aaron ; Velinder, Matt ; Viskochil, Dave ; Bayrak-Toydemir, Pinar ; Mao, Rong ; Westerfield, Monte ; Bican, Anna ; Duncan, Laura ; Hamid, Rizwan ; Kennedy, Jennifer ; Kozuira, Mary ; Newman, John H. ; Phillips, John A., III ; Rives, Lynette ; Robertson, Amy K. ; Solem, Emily ; Cogan, Joy D. ; Cole, F. Sessions ; Hayes, Nichole ; Kiley, Dana ; Sisco, Kathy ; Wambach, Jennifer ; Wegner, Daniel ; Baldridge, Dustin ; Pak, Stephen ; Schedl, Timothy ; Shin, Jimann ; Solnica-Krezel, Lilianna ; Waisfisz, Quinten ; Zwijnenburg, Petra J.G. ; Ziegler, Alban ; Barth, Magalie ; Smith, Rosemarie ; Ellingwood, Sara ; Gaebler-Spira, Deborah ; Bakhtiari, Somayeh ; Kruer, Michael C. ; van Kampen, Antoine H.C. ; Wanders, Ronald J.A. ; Waterham, Hans R. ; Cassiman, David ; Vaz, Frédéric M.
In Genetics in Medicine April 2021 23(4):740-750
Academic Journal
Schoch, Kelly ; Esteves, Cecilia ; Bican, Anna ; Spillmann, Rebecca ; Cope, Heidi ; McConkie-Rosell, Allyn ; Walley, Nicole ; Fernandez, Liliana ; Kohler, Jennefer N. ; Bonner, Devon ; Reuter, Chloe ; Stong, Nicholas ; Mulvihill, John J. ; Novacic, Donna ; Wolfe, Lynne ; Abdelbaki, Ayat ; Toro, Camilo ; Tifft, Cyndi ; Malicdan, May ; Gahl, William ; Liu, Pengfei ; Newman, John ; Goldstein, David B. ; Hom, Jason ; Sampson, Jacinda ; Wheeler, Matthew T. ; Alejandro, Mercedes E. ; Azamian, Mahshid S. ; Bacino, Carlos A. ; Balasubramanyam, Ashok ; Burrage, Lindsay C. ; Chao, Hsiao-Tuan ; Clark, Gary D. ; Craigen, William J. ; Dai, Hongzheng ; Dhar, Shweta U. ; Emrick, Lisa T. ; Goldman, Alica M. ; Hanchard, Neil A. ; Jamal, Fariha ; Karaviti, Lefkothea ; Lalani, Seema R. ; Lee, Brendan H. ; Lewis, Richard A. ; Marom, Ronit ; Moretti, Paolo M. ; Murdock, David R. ; Nicholas, Sarah K. ; Orengo, James P. ; Posey, Jennifer E. ; Potocki, Lorraine ; Rosenfeld, Jill A. ; Samson, Susan L. ; Scott, Daryl A. ; Tran, Alyssa A. ; Vogel, Tiphanie P. ; Wangler, Michael F. ; Yamamoto, Shinya ; Eng, Christine M. ; Ward, Patricia A. ; Behrens, Edward ; Deardorff, Matthew ; Falk, Marni ; Hassey, Kelly ; Sullivan, Kathleen ; Vanderver, Adeline ; Shashi, Vandana ; Smith, Edward C. ; Spillmann, Rebecca C. ; Sullivan, Jennifer A. ; Tan, Queenie K.-G. ; Walley, Nicole M. ; Agrawal, Pankaj B. ; Beggs, Alan H. ; Berry, Gerard T. ; Briere, Lauren C. ; Cobban, Laurel A. ; Coggins, Matthew ; Cooper, Cynthia M. ; Fieg, Elizabeth L. ; High, Frances ; Holm, Ingrid A. ; Korrick, Susan ; Krier, Joel B. ; Lincoln, Sharyn A. ; Loscalzo, Joseph ; Maas, Richard L. ; MacRae, Calum A. ; Pallais, J.Carl ; Rao, Deepak A. ; Rodan, Lance H. ; Silverman, Edwin K. ; Stoler, Joan M. ; Sweetser, David A. ; Walker, Melissa ; Walsh, Chris A. ; Kelley, Emily G. ; Kohane, Isaac S. ; LeBlanc, Kimberly ; McCray, Alexa T. ; Nagy, Anna ; Dasari, Surendra ; Lanpher, Brendan C. ; Lanza, Ian R. ; Morava, Eva ; Oglesbee, Devin ; Bademci, Guney ; Barbouth, Deborah ; Bivona, Stephanie ; Carrasquillo, Olveen ; Chang, Ta Chen Peter ; Forghani, Irman ; Grajewski, Alana ; Isasi, Rosario ; Lam, Byron ; Levitt, Roy ; Liu, Xue Zhong ; McCauley, Jacob ; Sacco, Ralph ; Saporta, Mario ; Schaechter, Judy ; Tekin, Mustafa ; Telischi, Fred ; Thorson, Willa ; Zuchner, Stephan ; Colley, Heather A. ; Dayal, Jyoti G. ; Eckstein, David J. ; Findley, Laurie C. ; Krasnewich, Donna M. ; Mamounas, Laura A. ; Manolio, Teri A. ; LaMoure, Grace L. ; Goldrich, Madison P. ; Urv, Tiina K. ; Doss, Argenia L. ; Acosta, Maria T. ; Bonnenmann, Carsten ; D’Souza, Precilla ; Draper, David D. ; Ferreira, Carlos ; Godfrey, Rena A. ; Groden, Catherine A. ; Macnamara, Ellen F. ; Maduro, Valerie V. ; Markello, Thomas C. ; Nath, Avi ; Pusey, Barbara N. ; Wahl, Colleen E. ; Baker, Eva ; Burke, Elizabeth A. ; Adams, David R. ; Gahl, William A. ; Malicdan, May Christine V. ; Tifft, Cynthia J. ; Wolfe, Lynne A. ; Yang, John ; Power, Bradley ; Gochuico, Bernadette ; Huryn, Laryssa ; Latham, Lea ; Davis, Joie ; Mosbrook-Davis, Deborah ; Rossignol, Francis ; Solomon, Ben ; MacDowall, John ; Thurm, Audrey ; Zein, Wadih ; Yousef, Muhammad ; Adam, Margaret ; Amendola, Laura ; Bamshad, Michael ; Beck, Anita ; Bennett, Jimmy ; Berg-Rood, Beverly ; Blue, Elizabeth ; Boyd, Brenna ; Byers, Peter ; Chanprasert, Sirisak ; Cunningham, Michael ; Dipple, Katrina ; Doherty, Daniel ; Earl, Dawn ; Glass, Ian ; Golden-Grant, Katie ; Hahn, Sihoun ; Hing, Anne ; Hisama, Fuki M. ; Horike-Pyne, Martha ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Jayadev, Suman ; Lam, Christina ; Maravilla, Kenneth ; Mefford, Heather ; Merritt, J.Lawrence ; Mirzaa, Ghayda ; Nickerson, Deborah ; Raskind, Wendy ; Rosenwasser, Natalie ; Scott, C.Ron ; Sun, Angela ; Sybert, Virginia ; Wallace, Stephanie ; Wener, Mark ; Wenger, Tara ; Ashley, Euan A. ; Bejerano, Gill ; Bernstein, Jonathan A. ; Coakley, Terra R. ; Fisher, Paul G. ; Fresard, Laure ; Huang, Yong ; Kravets, Elijah ; Majcherska, Marta M. ; Martin, Beth A. ; Marwaha, Shruti ; McCormack, Colleen E. ; Raja, Archana N. ; Reuter, Chloe M. ; Ruzhnikov, Maura ; Sampson, Jacinda B. ; Smith, Kevin S. ; Sutton, Shirley ; Tabor, Holly K. ; Tucker, Brianna M. ; Zastrow, Diane B. ; Zhao, Chunli ; Byrd, William E. ; Crouse, Andrew B. ; Might, Matthew ; Nakano-Okuno, Mariko ; Whitlock, Jordan ; Brown, Gabrielle ; Butte, Manish J. ; Dell’Angelica, Esteban C. ; Dorrani, Naghmeh ; Douine, Emilie D. ; Fogel, Brent L. ; Gutierrez, Irma ; Huang, Alden ; Krakow, Deborah ; Lee, Hane ; Loo, Sandra K. ; Mak, Bryan C. ; Martin, Martin G. ; Martínez-Agosto, Julian A. ; McGee, Elisabeth ; Nelson, Stanley F. ; Nieves-Rodriguez, Shirley ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Parker, Neil H. ; Renteria, Genecee ; Signer, Rebecca H. ; Sinsheimer, Janet S. ; Wan, Jijun ; Wang, Lee-kai ; Perry, Katherine Wesseling ; Woods, Jeremy D. ; Alvey, Justin ; Andrews, Ashley ; Bale, Jim ; Bohnsack, John ; Botto, Lorenzo ; Carey, John ; Pace, Laura ; Longo, Nicola ; Marth, Gabor ; Moretti, Paolo ; Quinlan, Aaron ; Velinder, Matt ; Viskochil, Dave ; Bayrak-Toydemir, Pinar ; Mao, Rong ; Westerfield, Monte ; Brokamp, Elly ; Duncan, Laura ; Hamid, Rizwan ; Kennedy, Jennifer ; Kozuira, Mary ; Newman, John H. ; Phillips, John A., III ; Rives, Lynette ; Robertson, Amy K. ; Solem, Emily ; Cogan, Joy D. ; Cole, F. Sessions ; Hayes, Nichole ; Kiley, Dana ; Sisco, Kathy ; Wambach, Jennifer ; Wegner, Daniel ; Baldridge, Dustin ; Pak, Stephen ; Schedl, Timothy ; Shin, Jimann ; Solnica-Krezel, Lilianna ; Cogan, Joy
In Genetics in Medicine February 2021 23(2):259-271
Academic Journal
Lu, Jinfeng; Toro, Camilo; Adams, David R.; Acosta, Maria T.; Adam, Margaret; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dickson, Patricia; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Swerdzewski, Barbara N. Pusey; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Seto, Elaine; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L. M.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan
BMC Genomics. January 26, 2024, Vol. 25 Issue 1
Academic Journal
Rosenfeld, Lindsay E.; LeBlanc, Kimberly; Nagy, Anna; Ego, Braeden K.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Kennedy, Jennifer; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Swerdzewski, Barbara N. Pusey; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L. M.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan
Orphanet Journal of Rare Diseases. April 10, 2023, Vol. 18 Issue 1
Academic Journal
Miller, Ilana M.; Yashar, Beverly M.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Yong; Huang, Alden; Huryn, Laryssa; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; Lalani, Seema R.; Lam, Byron; Lam, Christina; LaMoure, Grace L.; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Mahoney, Rachel; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martfnez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Signer, Rebecca H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L. M.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Worley, Kim; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhang, Zhe; Zhao, Chunli; Zuchner, Stephan
Orphanet Journal of Rare Diseases. January 9, 2023, Vol. 18 Issue 1
Academic Journal
Ferdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M.; Ruiter, Jos P.N.; van Lint, Alida E.M.; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J.; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L.; Sell, Susan L.; Nowak, Catherine B.; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V.; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A.; Macnamara, Ellen F.; Wolfe, Lynne A.; Alejandro, Mercedes E.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Burrage, Lindsay C.; Chao, Hsiao Tuan; Clark, Gary D.; Craigen, William J.; Dai, Hongzheng; Dhar, Shweta U.; Emrick, Lisa T.; Goldman, Alica M.; Hanchard, Neil A.; Jamal, Fariha; Karaviti, Lefkothea; Lalani, Seema R.; Lee, Brendan H.; Lewis, Richard A.; Marom, Ronit; Moretti, Paolo; Murdock, David R.; Nicholas, Sarah K.; Orengo, James P.; Posey, Jennifer E.; Potocki, Lorraine; Rosenfeld, Jill A.; Samson, Susan L.; Scott, Daryl A.; Tran, Alyssa A.; Vogel, Tiphanie P.; Wangler, Michael F.; Yamamoto, Shinya; Eng, Christine M.; Liu, Pengfei; Ward, Patricia A.; Behrens, Edward; Deardorff, Matthew; Falk, Marni; Hassey, Kelly; Sullivan, Kathleen; Vanderver, Adeline; Goldstein, David B.; Cope, Heidi; McConkie-Rosell, Allyn; Schoch, Kelly; Shashi, Vandana; Smith, Edward C.; Spillmann, Rebecca C.; Sullivan, Jennifer A.; Tan, Queenie K.G.; Walley, Nicole M.; Agrawal, Pankaj B.; Beggs, Alan H.; Berry, Gerard T.; Briere, Lauren C.; Cobban, Laurel A.; Coggins, Matthew; Cooper, Cynthia M.; Fieg, Elizabeth L.; High, Frances; Holm, Ingrid A.; Korrick, Susan; Krier, Joel B.; Lincoln, Sharyn A.; Loscalzo, Joseph; Maas, Richard L.; MacRae, Calum A.; Pallais, J. Carl; Rao, Deepak A.; Rodan, Lance H.; Silverman, Edwin K.; Stoler, Joan M.; Sweetser, David A.; Walker, Melissa; Walsh, Chris A.; Esteves, Cecilia; Kelley, Emily G.; Kohane, Isaac S.; LeBlanc, Kimberly; McCray, Alexa T.; Nagy, Anna; Dasari, Surendra; Lanpher, Brendan C.; Lanza, Ian R.; Morava, Eva; Oglesbee, Devin; Bademci, Guney; Barbouth, Deborah; Bivona, Stephanie; Carrasquillo, Olveen; Chang, Ta Chen Peter; Forghani, Irman; Grajewski, Alana; Isasi, Rosario; Lam, Byron; Levitt, Roy; Liu, Xue Zhong; McCauley, Jacob; Sacco, Ralph; Saporta, Mario; Schaechter, Judy; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Zuchner, Stephan; Colley, Heather A.; Dayal, Jyoti G.; Eckstein, David J.; Findley, Laurie C.; Krasnewich, Donna M.; Mamounas, Laura A.; Manolio, Teri A.; Mulvihill, John J.; LaMoure, Grace L.; Goldrich, Madison P.; Urv, Tiina K.; Doss, Argenia L.; Acosta, Maria T.; Bonnenmann, Carsten; D’Souza, Precilla; Draper, David D.; Ferreira, Carlos; Godfrey, Rena A.; Groden, Catherine A.; Maduro, Valerie V.; Markello, Thomas C.; Nath, Avi; Novacic, Donna; Pusey, Barbara N.; Wahl, Colleen E.; Baker, Eva; Burke, Elizabeth A.; Adams, David R.; Malicdan, May Christine V.; Tifft, Cynthia J.; Yang, John; Power, Bradley; Gochuico, Bernadette; Huryn, Laryssa; Latham, Lea; Davis, Joie; Mosbrook-Davis, Deborah; Rossignol, Francis; Solomon, Ben; MacDowall, John; Thurm, Audrey; Zein, Wadih; Yousef, Muhammad; Adam, Margaret; Amendola, Laura; Bamshad, Michael; Beck, Anita; Bennett, Jimmy; Berg-Rood, Beverly; Blue, Elizabeth; Boyd, Brenna; Byers, Peter; Chanprasert, Sirisak; Cunningham, Michael; Dipple, Katrina; Doherty, Daniel; Earl, Dawn; Glass, Ian; Golden-Grant, Katie; Hahn, Sihoun; Hing, Anne; Hisama, Fuki M.; Horike-Pyne, Martha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Lam, Christina; Maravilla, Kenneth; Mefford, Heather; Merritt, J. Lawrence; Mirzaa, Ghayda; Nickerson, Deborah; Raskind, Wendy; Rosenwasser, Natalie; Scott, C. Ron; Sun, Angela; Sybert, Virginia; Wallace, Stephanie; Wener, Mark; Wenger, Tara; Ashley, Euan A.; Bejerano, Gill; Bernstein, Jonathan A.; Bonner, Devon; Coakley, Terra R.; Fernandez, Liliana; Fisher, Paul G.; Fresard, Laure; Hom, Jason; Huang, Yong; Kohler, Jennefer N.; Kravets, Elijah; Majcherska, Marta M.; Martin, Beth A.; Marwaha, Shruti; McCormack, Colleen E.; Raja, Archana N.; Reuter, Chloe M.; Ruzhnikov, Maura; Sampson, Jacinda B.; Smith, Kevin S.; Sutton, Shirley; Tabor, Holly K.; Tucker, Brianna M.; Wheeler, Matthew T.; Zastrow, Diane B.; Zhao, Chunli; Byrd, William E.; Crouse, Andrew B.; Might, Matthew; Nakano-Okuno, Mariko; Whitlock, Jordan; Brown, Gabrielle; Butte, Manish J.; Dell’Angelica, Esteban C.; Dorrani, Naghmeh; Douine, Emilie D.; Fogel, Brent L.; Gutierrez, Irma; Huang, Alden; Krakow, Deborah; Lee, Hane; Loo, Sandra K.; Mak, Bryan C.; Martin, Martin G.; Martínez-Agosto, Julian A.; McGee, Elisabeth; Nelson, Stanley F.; Nieves-Rodriguez, Shirley; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Renteria, Genecee; Signer, Rebecca H.; Sinsheimer, Janet S.; Wan, Jijun; Wang, Lee kai; Perry, Katherine Wesseling; Woods, Jeremy D.; Alvey, Justin; Andrews, Ashley; Bale, Jim; Bohnsack, John; Botto, Lorenzo; Carey, John; Pace, Laura; Longo, Nicola; Marth, Gabor; Quinlan, Aaron; Velinder, Matt; Viskochil, Dave; Bayrak-Toydemir, Pinar; Mao, Rong; Westerfield, Monte; Bican, Anna; Duncan, Laura; Hamid, Rizwan; Kennedy, Jennifer; Kozuira, Mary; Newman, John H.; Phillips, John A.; Rives, Lynette; Robertson, Amy K.; Solem, Emily; Cogan, Joy D.; Cole, F. Sessions; Hayes, Nichole; Kiley, Dana; Sisco, Kathy; Wambach, Jennifer; Wegner, Daniel; Baldridge, Dustin; Pak, Stephen; Schedl, Timothy; Shin, Jimann; Solnica-Krezel, Lilianna; Waisfisz, Quinten; Zwijnenburg, Petra J.G.; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C.; van Kampen, Antoine H.C.; Wanders, Ronald J.A.; Waterham, Hans R.; Cassiman, David; Vaz, Frédéric M.
Ferdinandusse, S, McWalter, K, te Brinke, H, IJlst, L, Mooijer, P M, Ruiter, J P N, van Lint, A E M, Pras-Raves, M, Wever, E, Millan, F, Guillen Sacoto, M J, Begtrup, A, Tarnopolsky, M, Brady, L, Ladda, R L, Sell, S L, Nowak, C B, Douglas, J, Tian, C, Ulm, E, Perlman, S, Drack, A V, Chong, K, Martin, N, Brault, J, Brokamp, E, Toro, C, Gahl, W A, Macnamara, E F, Wolfe, L A, Alejandro, M E, Azamian, M S, Bacino, C A, Balasubramanyam, A, Burrage, L C, Chao, H T, Clark, G D, Craigen, W J, Dai, H, Dhar, S U, Emrick, L T, Goldman, A M, Hanchard, N A, Jamal, F, Karaviti, L, Lalani, S R, Lee, B H, Lewis, R A, Marom, R, Moretti, P, Murdock, D R, Nicholas, S K, Orengo, J P, Posey, J E, Potocki, L, Rosenfeld, J A, Samson, S L, Scott, D A, Tran, A A, Vogel, T P, Wangler, M F, Yamamoto, S, Eng, C M, Liu, P, Ward, P A, Behrens, E, Deardorff, M, Falk, M, Hassey, K, Sullivan, K, Vanderver, A, Goldstein, D B, Cope, H, McConkie-Rosell, A, Schoch, K, Shashi, V, Smith, E C, Spillmann, R C, Sullivan, J A, Tan, Q K G, Walley, N M, Agrawal, P B, Beggs, A H, Berry, G T, Briere, L C, Cobban, L A, Coggins, M, Cooper, C M, Fieg, E L, High, F, Holm, I A, Korrick, S, Krier, J B, Lincoln, S A, Loscalzo, J, Maas, R L, MacRae, C A, Pallais, J C, Rao, D A, Rodan, L H, Silverman, E K, Stoler, J M, Sweetser, D A, Walker, M, Walsh, C A, Esteves, C, Kelley, E G, Kohane, I S, LeBlanc, K, McCray, A T, Nagy, A, Dasari, S, Lanpher, B C, Lanza, I R, Morava, E, Oglesbee, D, Bademci, G, Barbouth, D, Bivona, S, Carrasquillo, O, Chang, T C P, Forghani, I, Grajewski, A, Isasi, R, Lam, B, Levitt, R, Liu, X Z, McCauley, J, Sacco, R, Saporta, M, Schaechter, J, Tekin, M, Telischi, F, Thorson, W, Zuchner, S, Colley, H A, Dayal, J G, Eckstein, D J, Findley, L C, Krasnewich, D M, Mamounas, L A, Manolio, T A, Mulvihill, J J, LaMoure, G L, Goldrich, M P, Urv, T K, Doss, A L, Acosta, M T, Bonnenmann, C, D’Souza, P, Draper, D D, Ferreira, C, Godfrey, R A, Groden, C A, Macnamara, E F, Maduro, V V, Markello, T C, Nath, A, Novacic, D, Pusey, B N, Toro, C, Wahl, C E, Baker, E, Burke, E A, Adams, D R, Gahl, W A, Malicdan, M C V, Tifft, C J, Wolfe, L A, Yang, J, Power, B, Gochuico, B, Huryn, L, Latham, L, Davis, J, Mosbrook-Davis, D, Rossignol, F, Solomon, B, MacDowall, J, Thurm, A, Zein, W, Yousef, M, Adam, M, Amendola, L, Bamshad, M, Beck, A, Bennett, J, Berg-Rood, B, Blue, E, Boyd, B, Byers, P, Chanprasert, S, Cunningham, M, Dipple, K, Doherty, D, Earl, D, Glass, I, Golden-Grant, K, Hahn, S, Hing, A, Hisama, F M, Horike-Pyne, M, Jarvik, G P, Jarvik, J, Jayadev, S, Lam, C, Maravilla, K, Mefford, H, Merritt, J L, Mirzaa, G, Nickerson, D, Raskind, W, Rosenwasser, N, Scott, C R, Sun, A, Sybert, V, Wallace, S, Wener, M, Wenger, T, Ashley, E A, Bejerano, G, Bernstein, J A, Bonner, D, Coakley, T R, Fernandez, L, Fisher, P G, Fresard, L, Hom, J, Huang, Y, Kohler, J N, Kravets, E, Majcherska, M M, Martin, B A, Marwaha, S, McCormack, C E, Raja, A N, Reuter, C M, Ruzhnikov, M, Sampson, J B, Smith, K S, Sutton, S, Tabor, H K, Tucker, B M, Wheeler, M T, Zastrow, D B, Zhao, C, Byrd, W E, Crouse, A B, Might, M, Nakano-Okuno, M, Whitlock, J, Brown, G, Butte, M J, Dell’Angelica, E C, Dorrani, N, Douine, E D, Fogel, B L, Gutierrez, I, Huang, A, Krakow, D, Lee, H, Loo, S K, Mak, B C, Martin, M G, Martínez-Agosto, J A, McGee, E, Nelson, S F, Nieves-Rodriguez, S, Palmer, C G S, Papp, J C, Parker, N H, Renteria, G, Signer, R H, Sinsheimer, J S, Wan, J, Wang, L K, Perry, K W, Woods, J D, Alvey, J, Andrews, A, Bale, J, Bohnsack, J, Botto, L, Carey, J, Pace, L, Longo, N, Marth, G, Moretti, P, Quinlan, A, Velinder, M, Viskochil, D, Bayrak-Toydemir, P, Mao, R, Westerfield, M, Bican, A, Brokamp, E, Duncan, L, Hamid, R, Kennedy, J, Kozuira , M, Newman, J H, Phillips, J A, Rives, L, Robertson, A K, Solem, E, Cogan, J D, Cole, F S, Hayes, N, Kiley, D, Sisco, K, Wambach, J, Wegner, D, Baldridge, D, Pak, S, Schedl, T, Shin, J, Solnica-Krezel, L, Waisfisz, Q, Zwijnenburg, P J G, Ziegler, A, Barth, M, Smith, R, Ellingwood, S, Gaebler-Spira, D, Bakhtiari, S, Kruer, M C, van Kampen, A H C, Wanders, R J A, Waterham, H R, Cassiman, D, Vaz, F M & Undiagnosed Diseases Network 2021, 'Correction to : An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)', Genetics in Medicine. https://doi.org/10.1038/s41436-021-01189-8
Academic Journal
Siddharth Srivastava; Hagar Mor Shaked; Kenneth Gable; Sita D Gupta; Xueyang Pan; Niranjanakumari Somashekarappa; Gongshe Han; Payam Mohassel; Marc Gotkine; Elizabeth Doney; Paula Goldenberg; Queenie K G Tan; Yi Gong; Benjamin Kleinstiver; Brian Wishart; Heidi Cope; Claudia Brito Pires; Hannah Stutzman; Rebecca C Spillmann; Mercedes E Alejandro; Mahshid S Azamian; Carlos A Bacino; Ashok Balasubramanyam; Lindsay C Burrage; Hsiao-Tuan Chao; Gary D Clark; William J Craigen; Hongzheng Dai; Shweta U Dhar; Lisa T Emrick; Alica M Goldman; Neil A Hanchard; Fariha Jamal; Lefkothea Karaviti; Seema R Lalani; Brendan H Lee; Richard A Lewis; Ronit Marom; Paolo M Moretti; David R Murdock; Sarah K Nicholas; James P Orengo; Jennifer E Posey; Lorraine Potocki; Jill A Rosenfeld; Susan L Samson; Daryl A Scott; Alyssa A Tran; Tiphanie P Vogel; Michael F Wangler; Shinya Yamamoto; Christine M Eng; Pengfei Liu; Patricia A Ward; Edward Behrens; Matthew Deardorff; Marni Falk; Kelly Hassey; Kathleen Sullivan; Adeline Vanderver; David B Goldstein; Allyn McConkie-Rosell; Kelly Schoch; Vandana Shashi; Edward C Smith; Jennifer A Sullivan; Queenie K-G Tan; Nicole M Walley; Pankaj B Agrawal; Alan H Beggs; Gerard T Berry; Lauren C Briere; Laurel A Cobban; Matthew Coggins; Cynthia M Cooper; Elizabeth L Fieg; Frances High; Ingrid A Holm; Susan Korrick; Joel B Krier; Sharyn A Lincoln; Joseph Loscalzo; Richard L Maas; Calum A MacRae; J Carl Pallais; Deepak A Rao; Lance H Rodan; Edwin K Silverman; Joan M Stoler; David A Sweetser; Melissa Walker; Chris A Walsh; Cecilia Esteves; Emily G Kelley; Isaac S Kohane; Kimberly LeBlanc; Alexa T McCray; Anna Nagy; Surendra Dasari; Brendan C Lanpher; Ian R Lanza; Eva Morava; Devin Oglesbee; Guney Bademci; Deborah Barbouth; Stephanie Bivona; Olveen Carrasquillo; Ta Chen Peter Chang; Irman Forghani; Alana Grajewski; Rosario Isasi; Byron Lam; Roy Levitt; Xue Zhong Liu; Jacob McCauley; Ralph Sacco; Mario Saporta; Judy Schaechter; Mustafa Tekin; Fred Telischi; Willa Thorson; Stephan Zuchner; Heather A Colley; Jyoti G Dayal; David J Eckstein; Laurie C Findley; Donna M Krasnewich; Laura A Mamounas; Teri A Manolio; John J Mulvihill; Grace L LaMoure; Madison P Goldrich; Tiina K Urv; Argenia L Doss; Maria T Acosta; Carsten Bonnenmann; Precilla D’Souza; David D Draper; Carlos Ferreira; Rena A Godfrey; Catherine A Groden; Ellen F Macnamara; Valerie V Maduro; Thomas C Markello; Avi Nath; Donna Novacic; Barbara N Pusey; Camilo Toro; Colleen E Wahl; Eva Baker; Elizabeth A Burke; David R Adams; William A Gahl; May Christine V Malicdan; Cynthia J Tifft; Lynne A Wolfe; John Yang; Bradley Power; Bernadette Gochuico; Laryssa Huryn; Lea Latham; Joie Davis; Deborah Mosbrook-Davis; Francis Rossignol; Ben Solomon; John MacDowall; Audrey Thurm; Wadih Zein; Muhammad Yousef; Margaret Adam; Laura Amendola; Michael Bamshad; Anita Beck; Jimmy Bennett; Beverly Berg-Rood; Elizabeth Blue; Brenna Boyd; Peter Byers; Sirisak Chanprasert; Michael Cunningham; Katrina Dipple; Daniel Doherty; Dawn Earl; Ian Glass; Katie Golden-Grant; Sihoun Hahn; Anne Hing; Fuki M Hisama; Martha Horike-Pyne; Gail P Jarvik; Jeffrey Jarvik; Suman Jayadev; Christina Lam; Kenneth Maravilla; Heather Mefford; J Lawrence Merritt; Ghayda Mirzaa; Deborah Nickerson; Wendy Raskind; Natalie Rosenwasser; C Ron Scott; Angela Sun; Virginia Sybert; Stephanie Wallace; Mark Wener; Tara Wenger; Euan A Ashley; Gill Bejerano; Jonathan A Bernstein; Devon Bonner; Terra R Coakley; Liliana Fernandez; Paul G Fisher; Laure Fresard; Jason Hom; Yong Huang; Jennefer N Kohler; Elijah Kravets; Marta M Majcherska; Beth A Martin; Shruti Marwaha; Colleen E McCormack; Archana N Raja; Chloe M Reuter; Maura Ruzhnikov; Jacinda B Sampson; Kevin S Smith; Shirley Sutton; Holly K Tabor; Brianna M Tucker; Matthew T Wheeler; Diane B Zastrow; Chunli Zhao; William E Byrd; Andrew B Crouse; Matthew Might; Mariko Nakano-Okuno; Jordan Whitlock; Gabrielle Brown; Manish J Butte; Esteban C Dell’Angelica; Naghmeh Dorrani; Emilie D Douine; Brent L Fogel; Irma Gutierrez; Alden Huang; Deborah Krakow; Hane Lee; Sandra K Loo; Bryan C Mak; Martin G Martin; Julian A Martínez-Agosto; Elisabeth McGee; Stanley F Nelson; Shirley Nieves-Rodriguez; Christina G S Palmer; Jeanette C Papp; Neil H Parker; Genecee Renteria; Rebecca H Signer; Janet S Sinsheimer; Jijun Wan; Lee-kai Wang; Katherine Wesseling Perry; Jeremy D Woods; Justin Alvey; Ashley Andrews; Jim Bale; John Bohnsack; Lorenzo Botto; John Carey; Laura Pace; Nicola Longo; Gabor Marth; Paolo Moretti; Aaron Quinlan; Matt Velinder; Dave Viskochi; Pinar Bayrak-Toydemir; Rong Mao; Monte Westerfield; Anna Bican; Elly Brokamp; Laura Duncan; Rizwan Hamid; Jennifer Kennedy; Mary Kozuira; John H Newman; John A PhillipsIII; Lynette Rives; Amy K Robertson; Emily Solem; Joy D Cogan; F Sessions Cole; Nichole Hayes; Dana Kiley; Kathy Sisco; Jennifer Wambach; Daniel Wegner; Dustin Baldridge; Stephen Pak; Timothy Schedl; Jimann Shin; Lilianna Solnica-Krezel; Reza Sadjadi; Orly Elpeleg; Chia-Hsueh Lee; Hugo J Bellen; Simon Edvardson; Florian Eichler; Teresa M Dunn
Brain. 146:1420-1435
Academic Journal
Debdeep Dutta; Oguz Kanca; Rishi V. Shridharan; Paul C. Marcogliese; Benjamin Steger; Marie Morimoto; F. Graeme Frost; Ellen Macnamara; Michael F. Wangler; Shinya Yamamoto; Andreas Jenny; David Adams; May C. Malicdan; Hugo J. Bellen; Mercedes E. Alejandro; Mahshid S. Azamian; Carlos A. Bacino; Ashok Balasubramanyam; Lindsay C. Burrage; Hsiao-Tuan Chao; Gary D. Clark; William J. Craigen; Hongzheng Dai; Fariha Jamal; Lefkothea Karaviti; Shamika Ketkar; Brendan H. Lee; Richard A. Lewis; Ronit Marom; Paolo M. Moretti; Sarah K. Nicholas; James P. Orengo; Jennifer E. Posey; Lorraine Potocki; Daryl A. Scott; Alyssa A. Tran; Tiphanie P. Vogel; Monika Weisz Hubshman; Kim Worley; Christine M. Eng; Pengfei Liu; Patricia A. Ward; Edward Behrens; Kosuke Izumi; Marni Falk; Kelly Hassey; Kathleen Sullivan; Anna Raper; Gonench Kilich; Zhe Zhang; Adeline Vanderver; David B. Goldstein; Heidi Cope; Allyn McConkie-Rosell; Kelly Schoch; Vandana Shashi; Edward C. Smith; Rebecca C. Spillmann; Jennifer A. Sullivan; Queenie K.-G. Tan; Nicole M. Walley; Pankaj B. Agrawal; H. Alan; Gerard T. Berry; Lauren C. Briere; Laurel A. Cobban; Matthew Coggins; Cynthia M. Cooper; Elizabeth L. Fieg; Frances High; Ingrid A. Holm; Susan Korrick; Joel B. Krier; Sharyn A. Lincoln; Joseph Loscalzo; Richard L. Maas; Calum A. MacRae; J. Carl Pallais; Deepak A. Rao; Lance H. Rodan; Edwin K. Silverman; Joan M. Stoler; David A. Sweetser; Melissa Walker; Chris A. Walsh; Cecilia Esteves; Isaac S. Kohane; Kimberly LeBlanc; Alexa T. McCray; Shilpa N. Kobren; Amelia L. M. Tan; Rachel Mahoney; Surendra Dasari; Brendan C. Lanpher; Ian R. Lanza; Eva Morava; Devin Oglesbee; Guney Bademci; Deborah Barbouth; Stephanie Bivona; Olveen Carrasquillo; Ta Chen Pete Chang; Irman Forghani; Alana Grajewski; Rosario Isasi; Byron Lam; Roy Levitt; Xue Zhong Liu; Jacob McCauley; Ralph Sacco; Mario Saporta; Judy Schaechter; Mustafa Tekin; Fred Telischi; Willa Thorson; Stephan Zuchner; Heather A. Colley; Jyoti G. Dayal; David J. Eckstein; Laurie C. Findley; Donna M. Krasnewich; Laura A. Mamounas; Teri A. Manolio; John J. Mulvihill; Grace L. LaMoure; Madison P. Goldrich; Tiina K. Urv; Argenia L. Doss; Maria T. Acosta; Carsten Bonnenmann; Precilla D'Souza; David D. Draper; Carlos Ferreira; Rena A. Godfreyv; Catherine A. Groden; Ellen F. Macnamara; Valerie V. Maduro; Thomas C. Markello; Avi Nath; Donna Novacic; Barbara N. Pusey; Camilo Toro; Colleen E. Wahl; Eva Baker; Elizabeth A. Burke; David R. Adams; William A. Gahl; May Christine V. Malicdan; Cynthia J. Tifft; Lynne A. Wolfe; John Yang; Bradley Power; Bernadette Gochuico; Laryssa Huryn; Lea Latham; Joie Davis; Deborah Mosbrook-Davis; Francis Rossignol; Ben Solomon; John MacDowall; Audrey Thurm; Wadih Zein; Muhammad Yousef; Margaret Adam; Laura Amendola; Michael Bamshad; Anita Beck; Jimmy Bennett; Beverly Berg-Rood; Elizabeth Blue; Brenna Boyd; Peter Byers; Sirisak Chanprasert; Michae Cunningham; Katrina Dipple; Daniel Doherty; Dawn Earl; Ian Glass; Katie Golden-Grant; Sihoun Hahn; Anne Hing; Fuki M. Hisama; Martha Horike-Pyne; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Christina Lam; Kenneth Maravilla; Heather Mefford; J. Lawrence Merritt; Ghayda Mirzaa; Deborah Nickerson; Wendy Raskind; Natalie Rosenwasser; C. RonScott; Angela Sun; Virginia Sybert; Stephanie Wallace; Mark Wener; Tara Wenger; Euan A. Ashley; Gill Bejerano; Jonathan A. Bernstein; Devon Bonner; Terra R. Coakley; Liliana Fernandez; Paul G. Fisher; Jason Hom; Yong Huang; Jennefer N. Kohler; Elijah Kravets; Beth A. Martin; Shruti Marwaha; Archana N. Raja; Chloe M. Reuter; Maura Ruzhnikov; Jacinda B. Sampson; Kevin S. Smith; Shirley Sutton; Holly K. Tabor; Brianna M. Tucker; Matthew T. Wheeler; Diane B. Zastrow; Chunli Zhao; William E. Byrd; Andrew B. Crouse; Matthew Might; Mariko Nakano-Okuno; Jordan Whitlock; Gabrielle Brown; Manish J. Butte; Esteban C. Dell'Angelica; Naghmeh Dorrani; Emilie D. Douine; Brent L. Fogel; Irma Gutierrez; Alden Huang; Deborah Krakow; Hane Lee; Sandra K. Loo; Bryan C. Mak; Martin G. Martin; Julian A. Martínez-Agosto; Elisabeth McGee; Stanley F. Nelson; Shirley Nieves-Rodriguez; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; Genecee Renteria; Rebecca H. Signer; Janet S. Sinsheimer; Jijun Wan; Lee-kai Wang; Katherine Wesseling Perry; Jeremy D. Woods; Justin Alvey; Ashley Andrews; Jim Bale; John Bohnsack; Lorenzo Botto; John Carey; Laura Pace; Nicola Longo; Gabor Marth; Paolo Moretti; Aaron Quinlan; Matt Velinder; Dave Viskochil; Pinar Bayrak-Toydemir; Rong Mao; Monte Westerfield; Anna Bican; Elly Brokamp; Laura Duncan; Rizwan Hamid; Jennifer Kennedy; Mary Kozuira; John H. Newman; John A. Phillips; Lynette Rives; Amy K. Robertson; Emily Solem; Joy D. Cogan; F. Sessions Cole; Nichole Hayes; Dana Kiley; Kathy Sisco; Jennifer Wambach; Daniel Wegner; Dustin Baldridge; Stephen Pak; Timothy Schedl; Jimann Shin; Lilianna Solnica-Krezel
Proc Natl Acad Sci U S A
검색 결과 제한하기
제한된 항목
[검색어] Kozuira, Mary
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어