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우리 대학 도서관에서 구독·제공하는 모든 전자자료(데이터베이스, 전자저널, 전자책 등)는 국내외 저작권법과 출판사와의 라이선스 계약에 따라 엄격하게 보호를 받고 있습니다.
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공정이용 지침
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불공정 이용 사례
- 전자적·기계적 수단(다운로딩 프로그램, 웹 크롤러, 로봇, 매크로, RPA 등)을 이용한 대량 다운로드
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- 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
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Jee, Youn Hee ; Lui, Julian C. ; Marafi, Dana ; Xia, Zhi-Jie ; Bhatia, Ruchika ; Zhou, Elaine ; Herman, Isabella ; Temnycky, Adrian ; Whalen, Philip ; Elliot, Gene ; Leschek, Ellen W. ; Wijngaard, Robin ; van Beek, Ronald ; de Vreugd, Annemarie ; de Vries, Maaike C. ; van Karnebeek, Clara D.M. ; Oud, Machteld M. ; Markello, Thomas C. ; Barnes, Kevin M. ; Alrohaif, Hadil ; Freeze, Hudson H. ; Gahl, William A. ; Malicdan, May Christine V. ; Posey, Jennifer E. ; Lupski, James R. ; Baron, Jeffrey
In Genetics in Medicine Open 2025 3
Academic Journal
Borras, Silvia; Clark, Caroline; Dean, John; Miedzybrodzka, Zosia; Ross, Alison; Tennant, Stephen; Dabir, Tabib; Donnelly, Deirdre; Humphreys, Mervyn; Magee, Alex; McConnell, Vivienne; McKee, Shane; McNerlan, Susan; Morrison, Patrick J.; Rea, Gillian; Stewart, Fiona; Cole, Trevor; Cooper, Nicola; Cooper-Charles, Lisa; Cox, Helen; Islam, Lily; Jarvis, Joanna; Keelagher, Rebecca; Lim, Derek; McMullan, Dominic; Morton, Jenny; Naik, Swati; O’Driscoll, Mary; Ong, Kai-Ren; Osio, Deborah; Ragge, Nicola; Turton, Sarah; Vogt, Julie; Williams, Denise; Bodek, Simon; Donaldson, Alan; Hills, Alison; Low, Karen; Newbury-Ecob, Ruth; Norman, Andrew M.; Roberts, Eileen; Scurr, Ingrid; Smithson, Sarah; Tooley, Madeleine; Abbs, Steve; Armstrong, Ruth; Dunn, Carolyn; Holden, Simon; Park, Soo-Mi; Paterson, Joan; Raymond, Lucy; Reid, Evan; Sandford, Richard; Simonic, Ingrid; Tischkowitz, Marc; Woods, Geoff; Bradley, Lisa; Comerford, Joanne; Green, Andrew; Lynch, Sally; McQuaid, Shirley; Mullaney, Brendan; Berg, Jonathan; Goudie, David; Mavrak, Eleni; McLean, Joanne; McWilliam, Catherine; Reavey, Eleanor; Azam, Tara; Cleary, Elaine; Jackson, Andrew; Lam, Wayne; Lampe, Anne; Moore, David; Porteous, Mary; Baple, Emma; Baptista, Júlia; Brewer, Carole; Castle, Bruce; Kivuva, Emma; Owens, Martina; Rankin, Julia; Shaw-Smith, Charles; Turner, Claire; Turnpenny, Peter; Tysoe, Carolyn; Bradley, Therese; Davidson, Rosemarie; Gardiner, Carol; Joss, Shelagh; Kinning, Esther; Longman, Cheryl; McGowan, Ruth; Murday, Victoria; Pilz, Daniela; Tobias, Edward; Whiteford, Margo; Williams, Nicola; Barnicoat, Angela; Clement, Emma; Faravelli, Francesca; Hurst, Jane; Jenkins, Lucy; Jones, Wendy; Ajith Kumar, V.K.; Lees, Melissa; Loughlin, Sam; Male, Alison; Morrogh, Deborah; Rosser, Elisabeth; Scott, Richard; Wilson, Louise; Beleza, Ana; Deshpande, Charu; Flinter, Frances; Holder, Muriel; Irving, Melita; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Molenda, Aneta; Robert, Leema; Roworth, Wendy; Ruddy, Deborah; Ryten, Mina; Yau, Shu; Bennett, Christopher; Blyth, Moira; Campbell, Jennifer; Coates, Andrea; Dobbie, Angus; Hewitt, Sarah; Hobson, Emma; Jackson, Eilidh; Jewell, Rosalyn; Kraus, Alison; Prescott, Katrina; Sheridan, Eamonn; Thomson, Jenny; Bradshaw, Kirsty; Dixit, Abhijit; Eason, Jacqueline; Haines, Rebecca; Harrison, Rachel; Mutch, Stacey; Sarkar, Ajoy; Searle, Claire; Shannon, Nora; Sharif, Abid; Suri, Mohnish; Vasudevan, Pradeep; Canham, Natalie; Ellis, Ian; Greenhalgh, Lynn; Howard, Emma; Stinton, Victoria; Swale, Andrew; Weber, Astrid; Banka, Siddharth; Breen, Catherine; Briggs, Tracy; Burkitt-Wright, Emma; Chandler, Kate; Clayton-Smith, Jill; Donnai, Dian; Douzgou, Sofia; Gaunt, Lorraine; Jones, Elizabeth; Kerr, Bronwyn; Langley, Claire; Metcalfe, Kay; Smith, Audrey; Wright, Ronnie; Bourn, David; Burn, John; Fisher, Richard; Hellens, Steve; Henderson, Alex; Montgomery, Tara; Splitt, Miranda; Straub, Volker; Wright, Michael; Zwolinski, Simon; Allen, Zoe; Bernhard, Birgitta; Brady, Angela; Brooks, Claire; Busby, Louise; Clowes, Virginia; Ghali, Neeti; Holder, Susan; Ibitoye, Rita; Wakeling, Emma; Blair, Edward; Carmichael, Jenny; Cilliers, Deirdre; Clasper, Susan; Gibbons, Richard; Kini, Usha; Lester, Tracy; Nemeth, Andrea; Poulton, Joanna; Price, Sue; Shears, Debbie; Stewart, Helen; Wilkie, Andrew; Albaba, Shadi; Baker, Duncan; Balasubramanian, Meena; Johnson, Diana; Parker, Michael; Quarrell, Oliver; Stewart, Alison; Willoughby, Josh; Crosby, Charlene; Elmslie, Frances; Homfray, Tessa; Jin, Huilin; Lahiri, Nayana; Mansour, Sahar; Marks, Karen; McEntagart, Meriel; Saggar, Anand; Tatton-Brown, Kate; Butler, Rachel; Clarke, Angus; Corrin, Sian; Fry, Andrew; Kamath, Arveen; McCann, Emma; Mugalaasi, Hood; Pottinger, Caroline; Procter, Annie; Sampson, Julian; Sansbury, Francis; Varghese, Vinod; Baralle, Diana; Callaway, Alison; Cassidy, Emma J.; Daniels, Stacey; Douglas, Andrew; Foulds, Nicola; Hunt, David; Kharbanda, Mira; Lachlan, Katherine; Mercer, Catherine; Side, Lucy; Temple, I. Karen; Wellesley, Diana; Ambrose, J.C.; Arumugam, P.; Baple, E.L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J.M.; Boustred, C.R.; Caulfield, M.J.; Chan, G.C.; Craig, C.E.H.; Daugherty, L.C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R.E.; Fowler, T.; FurióTarí, P.; Hackett, J.M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J.E.; Hubbard, T.J.P.; Ibáñez, K.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; MaleadyCrowe, F.; Mason, J.; McDonagh, E.M.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Riesgo-Ferreiro, P.; Rogers, T.; Ryten, M.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smedley, D.; Smith, K.R.; Sosinsky, A.; Spooner, W.; Stevens, H.E.; Stuckey, A.; Sultana, R.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Walsh, E.; Watters, S.A.; Welland, M.J.; Williams, E.; Witkowska, K.; 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; Bennet, 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; 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.; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Estwick, Tyra; 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; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; 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; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Johnston, Jean M.; Karaviti, Lefkothea; Kelley, Emily G.; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; 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.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan; 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.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stan 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; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey, Barbara N.; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N.; Rao, Deepak A.; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Scott, C. Ron; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Sharma, Prashant; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tamburro, Cecelia P.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; 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.; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; 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; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan; Jeffries, Lauren ; Mis, Emily K. ; McWalter, Kirsty ; Donkervoort, Sandra ; Brodsky, Nina N. ; Carpier, Jean-Marie ; Ji, Weizhen ; Ionita, Cristian ; Roy, Bhaskar ; Morrow, Jon S. ; Darbinyan, Armine ; Iyer, Krishna ; Aul, Ritu B. ; Chao, Katherine R. ; Cobbold, Laura ; Cohen, Stacey ; Custodio, Helena M. ; Drummond-Borg, Margaret ; Finanger, Erika ; Hainline, Bryan E. ; Helbig, Ingo ; Hewson, Stacy ; Hu, Ying ; Jackson, Adam ; Konstantino, Monica ; Leach, Meganne E. ; McCormick, David ; Nelson, Stanley ; Nguyen, Joanne ; Nugent, Kimberly ; Ortega, Lucy ; Goodkin, Howard P. ; Roeder, Elizabeth ; Roy, Sani ; Sapp, Katie ; Saade, Dimah ; Sisodiya, Sanjay M. ; Stals, Karen ; Towner, Shelley ; Wilson, William ; Khokha, Mustafa K. ; Bönnemann, Carsten G. ; Lucas, Carrie L. ; Lakhani, Saquib A.
In Genetics in Medicine February 2024 26(2)
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
Ravenscroft, Thomas A. ; Phillips, Jennifer B. ; Fieg, Elizabeth ; Bajikar, Sameer S. ; Peirce, Judy ; Wegner, Jeremy ; Luna, Alia A. ; Fox, Eric J. ; Yan, Yi-Lin ; Rosenfeld, Jill A. ; Zirin, Jonathan ; Kanca, Oguz ; 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 ; Balasubramanya, Ashok ; Baldridge, Dustin ; Bale, Jim ; Bamshad, Michael ; Barbouth, Deborah ; Bayrak-Toydemir, Pinar ; Beck, Anita ; Beggs, Alan H. ; Behrens, Edward ; Bejerano, Gill ; Bennet, 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. ; 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. ; Krakow, Deborah ; Krasnewich, Donna M. ; Kravets, Elijah ; Korrick, Susan ; Koziura, Mary ; 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. ; 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. ; Martínez-Agosto, Julian A. ; 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 ; Moretti, Paolo M. ; Mosbrook-Davis, Deborah ; Mulvihill, John J. ; Murdock, David R. ; Nagy, Anna ; Nakano-Okuno, Mariko ; Nath, Avi ; Nelson, Stan 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 GS. ; Papp, Jeanette C. ; Parker, Neil H. ; Phillips, John A., III ; Posey, Jennifer E. ; Potocki, Lorraine ; Power, Bradley ; Pusey, Barbara N. ; Quinlan, Aaron ; Raskind, Wendy ; Raja, Archana N. ; Rao, Deepak A. ; 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 ; Scott, C. Ron ; Schaechter, Judy ; Schedl, Timothy ; Schoch, Kelly ; Scott, Daryl A. ; Shashi, Vandana ; Shin, Jimann ; Signer, Rebecca ; 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, 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. ; Wallace, Stephanie ; Walley, Nicole M. ; Walsh, Chris A. ; Walker, Melissa ; 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 ; Benke, Paul J. ; Cameron, Eric S. ; Strehlow, Vincent ; Platzer, Konrad ; Jamra, Rami Abou ; Klöckner, Chiara ; Osmond, Matthew ; Licata, Thomas ; Rojas, Samantha ; Dyment, David ; Chong, Josephine S.C. ; Lincoln, Sharyn ; Postlethwait, John H. ; Krier, Joel ; Bellen, Hugo J.
In Genetics in Medicine October 2021 23(10):1889-1900
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
Pena, Loren; Shashi, Vandana; Schoch, Kelly; Sullivan, Jennifer A.; Acosta, Maria T.; Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Barbouth, Deborah; Batzli, Gabriel F.; Beggs, Alan H.; Bellen, Hugo J.; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bivona, Stephanie; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Carrasquillo, Olveen; Peter Chang, Ta Chen; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Dasari, Surendra; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Duncan, Laura; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Friedman, Noah D.; Gahl, William A.; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gourdine, Jean-Philippe F.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; High, Frances; Holm, Ingrid A.; Hom, Jason; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Kelley, Emily G.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lam, Byron; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Morava-Kozicz, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nath, Avi; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pak, Stephen; Pallais, J. Carl; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Renteri, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rowley, Robb K.; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shields, Kathleen; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sweetser, David A.; Tamburro, Cecelia P.; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Wegner, Daniel; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Woods, Jeremy D.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, John; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan; Gahl, William; Johnson, Brett V. ; Kumar, Raman ; Oishi, Sabrina ; Alexander, Suzy ; Kasherman, Maria ; Vega, Michelle Sanchez ; Ivancevic, Atma ; Gardner, Alison ; Domingo, Deepti ; Corbett, Mark ; Parnell, Euan ; Yoon, Sehyoun ; Oh, Tracey ; Lines, Matthew ; Lefroy, Henrietta ; Kini, Usha ; Van Allen, Margot ; Grønborg, Sabine ; Mercier, Sandra ; Küry, Sébastien ; Bézieau, Stéphane ; Pasquier, Laurent ; Raynaud, Martine ; Afenjar, Alexandra ; Billette de Villemeur, Thierry ; Keren, Boris ; Désir, Julie ; Van Maldergem, Lionel ; Marangoni, Martina ; Dikow, Nicola ; Koolen, David A. ; VanHasselt, Peter M. ; Weiss, Marjan ; Zwijnenburg, Petra ; Sa, Joaquim ; Reis, Claudia Falcao ; López-Otín, Carlos ; Santiago-Fernández, Olaya ; Fernández-Jaén, Alberto ; Rauch, Anita ; Steindl, Katharina ; Joset, Pascal ; Goldstein, Amy ; Madan-Khetarpal, Suneeta ; Infante, Elena ; Zackai, Elaine ; Mcdougall, Carey ; Narayanan, Vinodh ; Ramsey, Keri ; Mercimek-Andrews, Saadet ; Pinto e Vairo, Filippo ; Pichurin, Pavel N. ; Ewing, Sarah A. ; Barnett, Sarah S. ; Klee, Eric W. ; Perry, M. Scott ; Koenig, Mary Kay ; Keegan, Catherine E. ; Schuette, Jane L. ; Asher, Stephanie ; Perilla-Young, Yezmin ; Smith, Laurie D. ; Bhoj, Elizabeth ; Kaplan, Paige ; Li, Dong ; Oegema, Renske ; van Binsbergen, Ellen ; van der Zwaag, Bert ; Smeland, Marie Falkenberg ; Cutcutache, Ioana ; Page, Matthew ; Armstrong, Martin ; Lin, Angela E. ; Steeves, Marcie A. ; Hollander, Nicolette den ; Hoffer, Mariëtte J.V. ; Reijnders, Margot R.F. ; Demirdas, Serwet ; Koboldt, Daniel C. ; Bartholomew, Dennis ; Mosher, Theresa Mihalic ; Hickey, Scott E. ; Shieh, Christine ; Sanchez-Lara, Pedro A. ; Graham, John M., Jr. ; Tezcan, Kamer ; Schaefer, G.B. ; Danylchuk, Noelle R. ; Asamoah, Alexander ; Jackson, Kelly E. ; Yachelevich, Naomi ; Au, Margaret ; Pérez-Jurado, Luis A. ; Kleefstra, Tjitske ; Penzes, Peter ; Wood, Stephen A. ; Burne, Thomas ; Pierson, Tyler Mark ; Piper, Michael ; Gécz, Jozef ; Jolly, Lachlan A.
In Biological Psychiatry 15 January 2020 87(2):100-112
Academic Journal
Gu, Fangning ; Wu, Anchi ; Gordon, M. Grace ; Vlahos, Lukas ; Macnamara, Shane ; Burke, Elizabeth ; Malicdan, May C. ; Adams, David R. ; Tifft, Cynthia J. ; Toro, Camilo ; Gahl, William A. ; Markello, Thomas C.
In Genetics in Medicine August 2019 21(8):1772-1780
Academic Journal
Acosta, Maria T.; Adams, David R.; Agrawal, Pankaj; Alejandro, Mercedes E.; Allard, Patrick; Alvey, Justin; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Barbouth, Deborah; Batzli, Gabriel F.; Bayrak-Toydemir, Pinar; Beggs, Alan H.; Bejerano, Gill; Bellen, Hugo J.; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bivona, Stephanie; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Botto, Lorenzo; Briere, Lauren C.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gourdine, Jean-Philippe F.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; Hayes, Nichole; High, Frances; Holm, Ingrid A.; Hom, Jason; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Kelley, Emily G.; Kiley, Dana; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lam, Byron; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn 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.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Metz, Thomas O.; Might, Matthew; Morava-Kozicz, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nath, Avi; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; 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.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rowley, Robb K.; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shashi, Vandana; Shields, Kathleen; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Kevin S.; Solnica-Krezel, Lilianna; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Sutton, Shirley; Sweetser, David A.; Tabor, Holly K.; Tamburro, Cecelia P.; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Wegner, Daniel; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Woods, Jeremy D.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, John; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan; Nicoli, Elena-Raluca ; Weston, Mary R. ; Hackbarth, Mary ; Becerril, Alissa ; Larson, Austin ; Zein, Wadih M. ; Baker, Peter R., II ; Burke, John Douglas ; Dorward, Heidi ; Huang, Yan ; Zerfas, Patricia M. ; Chen, Dong ; Wood, Tim ; Elliott, Gene ; Vu, Mylinh ; Zheng, Wei ; Garrett, Lisa J. ; Day-Salvatore, Debra L. ; Mindell, Joseph A.
In The American Journal of Human Genetics 6 June 2019 104(6):1127-1138
Academic Journal
Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Baker, Eva; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F.; Beggs, Alan H.; Behnam, Babak; Bellen, Hugo J.; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Chen, Shan; Clark, Gary D.; Coakley, Terra R.; Cogan, Joy D.; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D’Souza, Precilla; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell’Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina M.; Donnell-Fink, Laurel A.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Duncan, Laura; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Eskin, Ascia; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Friedman, Noah D.; Gahl, William A.; Glanton, Emily; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gould, Sarah E.; Gourdine, Jean-Philippe F.; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; High, Frances; Holm, Ingrid A.; Hom, Jason; Howerton, Ellen M.; Huang, Yong; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krasnewich, Donna M.; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Murphy, Jennifer L.; Muzny, Donna M.; Nehrebecky, Michele E.; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Orange, Jordan S.; Orengo, James P.; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Pena, Loren D.M.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Sampson, Jacinda B.; Samson, Susan L.; Schoch, Kelly; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shashi, Vandana; Signer, Rebecca; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Sweetser, David A.; Tan, Queenie K.-G.; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vilain, Eric; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wan, Jijun; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, John; Yang, Yaping; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zheng, Allison; Reynolds, John J. ; Baratang, Nissan Vida ; Phillips, Jennifer B. ; Wegner, Jeremy ; McFarquhar, Ashley ; Higgs, Martin R. ; Christiansen, Audrey E. ; Lanza, Denise G. ; Seavitt, John R. ; Jain, Mahim ; Li, Xiaohui ; Parry, David A. ; Raman, Vandana ; Chitayat, David ; Chinn, Ivan K. ; Bertuch, Alison A. ; Schlesinger, Alan E. ; Earl, Dawn ; Bamshad, Michael ; Savarirayan, Ravi ; Doddapaneni, Harsha ; Muzny, Donna ; Jhangiani, Shalini N. ; Gibbs, Richard A. ; Bi, Weimin ; Emrick, Lisa ; Postlethwait, John ; Dickinson, Mary E. ; Beaudet, Arthur L. ; Ranza, Emmanuelle ; Huber, Celine ; Cormier-Daire, Valérie ; Shen, Wei ; Mao, Rong ; Heaney, Jason D. ; Bertola, Débora ; Yamamoto, Guilherme L. ; Baratela, Wagner A.R. ; Butler, Merlin G. ; Ali, Asim ; Adeli, Mehdi ; Cohn, Daniel H. ; Krakow, Deborah ; Jackson, Andrew P. ; Lees, Melissa ; Offiah, Amaka C. ; Carlston, Colleen M. ; Carey, John C. ; Stewart, Grant S. ; Campeau, Philippe M. ; Lee, Brendan
In The American Journal of Human Genetics 7 March 2019 104(3):422-438
Academic Journal
Shashi, Vandana ; Schoch, Kelly ; Spillmann, Rebecca ; Cope, Heidi ; Tan, Queenie K.-G. ; Walley, Nicole ; Pena, Loren ; McConkie-Rosell, Allyn ; Jiang, Yong-Hui ; Stong, Nicholas ; Need, Anna C. ; Goldstein, David B. ; Adams, David R.; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F.; Beggs, Alan H.; Behnam, Babak; Bellen, Hugo J.; Bernstein, Jonathan A.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Chen, Shan; Clark, Gary D.; Coakley, Terra R.; Cogan, Joy D.; Cooper, Cynthia M.; Craigen, William J.; D’Souza, Precilla; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell’Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina M.; Donnell-Fink, Laurel A.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Eskin, Ascia; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fisher, Paul G.; Fogel, Brent L.; Friedman, Noah D.; Gahl, William A.; Glanton, Emily; Godfrey, Rena A.; Gould, Sarah E.; Gourdine, Jean-Philippe F.; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; Handley, Lori H.; Herzog, Matthew R.; Holm, Ingrid A.; Hom, Jason; Howerton, Ellen M.; Huang, Yong; Jacob, Howard J.; Jain, Mahim; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krasnewich, Donna M.; Krieg, Elizabeth L.; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murphy, Jennifer L.; Muzny, Donna M.; Nehrebecky, Michele E.; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Orange, Jordan S.; Pallais, J. Carl; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Pena, Loren DM.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Reuter, Chloe M.; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Sampson, Jacinda B.; Samson, Susan L.; Schroeder, Molly C.; Scott, Daryl A.; Sharma, Prashant; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sweetser, David A.; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Valivullah, Zaheer M.; Vilain, Eric; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Wan, Jijun; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, Yaping; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zheng, Allison
In Genetics in Medicine January 2019 21(1):161-172
Academic Journal
Callens, Steven; Coucke, Paul; Dermaut, Bart; Hemelsoet, Dimitri; Poppe, Bruce; Steyaert, Wouter; Terryn, Wim; Van Coster, Rudy; Adams, David R.; Alejandro, Mercedes E.; Allard, Patrick; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F.; Beggs, Alan H.; Behnam, Babak; Bican, Anna; Bick, David P.; Birch, Camille L.; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Chen, Shan; Clark, Gary D.; Coakley, Terra R.; Cogan, Joy D.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D’Souza, Precilla; Davids, Mariska; Dayal, Jyoti G.; Dell’Angelica, Esteban C.; Dhar, Shweta U.; Dillon, Ani; Dipple, Katrina M.; Donnell-Fink, Laurel A.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Eskin, Ascia; Esteves, Cecilia; Estwick, Tyra; Ferreira, Carlos; Fogel, Brent L.; Friedman, Noah D.; Gahl, William A.; Glanton, Emily; Godfrey, Rena A.; Goldstein, David B.; Gould, Sarah E.; Gourdine, Jean-Philippe F.; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; Handley, Lori H.; Herzog, Matthew R.; Holm, Ingrid A.; Hom, Jason; Howerton, Ellen M.; Huang, Yong; Jacob, Howard J.; Jain, Mahim; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Kohane, Isaac S.; Krasnewich, Donna M.; Krieg, Elizabeth L.; Krier, Joel B.; Lalani, Seema R.; Lau, C. Christopher; Lazar, Jozef; Lee, Brendan H.; Lee, Hane; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Lipson, Allen; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martínez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Might, Matthew; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murphy, Jennifer L.; Muzny, Donna M.; Nehrebecky, Michele E.; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Orange, Jordan S.; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Pena, Loren D.M.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Reuter, Chloe M.; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Sampson, Jacinda B.; Samson, Susan L.; Schoch, Kelly; Schroeder, Molly C.; Scott, Daryl A.; Sharma, Prashant; Shashi, Vandana; Signer, Rebecca; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Spillmann, Rebecca C.; Splinter, Kimberly; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Sweetser, David A.; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Valivullah, Zaheer M.; Vilain, Eric; Vogel, Tiphanie P.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Ward, Patricia A.; Waters, Katrina M.; Westerfield, Monte; Wise, Anastasia L.; Wolfe, Lynne A.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, Yaping; Yu, Guoyun; Zastrow, Diane B.; Zheng, Allison; Marcogliese, Paul C. ; Koenig, Mary Kay ; Martínez-Agosto, Julián A. ; Herzog, Matthew ; Chen, Agnes H. ; Dickson, Patricia I. ; Lin, Henry J. ; Vera, Moin U. ; Salamon, Noriko ; Graham, John M., Jr. ; Ortiz, Damara ; Infante, Elena ; Chung, Hyung-Lok ; Zuo, Zhongyuan ; Lee, Pei-Tseng ; Kanca, Oguz ; Xia, Fan ; Smith, Edward C. ; Jasien, Joan ; Kansagra, Sujay ; Spiridigliozzi, Gail ; El-Dairi, Mays ; Lark, Robert ; Riley, Kacie ; Koeberl, Dwight D. ; Golden-Grant, Katie ; Wangler, Michael F. ; Mirzaa, Ghayda ; Lee, Brendan ; Nelson, Stanley F. ; Bellen, Hugo J.
In The American Journal of Human Genetics 2 August 2018 103(2):245-260
Academic Journal
Pena, Loren D.M. ; Jiang, Yong-Hui ; Schoch, Kelly ; Spillmann, Rebecca C. ; Walley, Nicole ; Stong, Nicholas ; Rapisardo Horn, Sarah ; Sullivan, Jennifer A. ; McConkie-Rosell, Allyn ; Kansagra, Sujay ; Smith, Edward C. ; El-Dairi, Mays ; Bellet, Jane ; Keels, Martha Ann ; Jasien, Joan ; Kranz, Peter G. ; Noel, Richard ; Nagaraj, Shashi K. ; Lark, Robert K. ; Wechsler, Daniel S.G. ; del Gaudio, Daniela ; Leung, Marco L. ; Hendon, Laura G. ; Parker, Collette C. ; Jones, Kelly L. ; Goldstein, David B. ; Shashi, Vandana ; Alejandro, Mercedes E.; Bacino, Carlos A.; Balasubramanyam, Ashok; Bostwick, Bret L.; Burrage, Lindsay C.; Chen, Shan; Clark, Gary D.; Craigen, William J.; Dhar, Shweta U.; Emrick, Lisa T.; Graham, Brett H.; Hanchard, Neil A.; Jain, Mahim; Lalani, Seema R.; Lee, Brendan H.; Lewis, Richard A.; Azamian, Mashid S.; Moretti, Paolo M.; Nicholas, Sarah K.; Orange, Jordan S.; Posey, Jennifer E.; Potocki, Lorraine; Rosenfeld, Jill A.; Samson, Susan L.; Scott, Daryl A.; Tran, Alyssa A.; Vogel, Tiphanie P.; Zhang, Jing; Bellen, Hugo J.; Wangler, Michael F.; Yamamoto, Shinya; Eng, Christine M.; Muzny, Donna M.; Ward, Patricia A.; Yang, Yaping; Jiang, Yong-hui; Walley, Nicole M.; Beggs, Alan H.; Briere, Lauren C.; Cooper, Cynthia M.; Donnell-Fink, Laurel A.; Krieg, Elizabeth L.; Krier, Joel B.; Lincoln, Sharyn A.; Loscalzo, Joseph; Maas, Richard L.; MacRae, Calum A.; Pallais, J. Carl; Rodan, Lance H.; Silverman, Edwin K.; Stoler, Joan M.; Sweetser, David A.; Walsh, Chris A.; Esteves, Cecilia; Holm, Ingrid A.; Kohane, Isaac S.; Mazur, Paul; McCray, Alexa T.; Might, Matthew; Ramoni, Rachel B.; Splinter, Kimberly; Bick, David P.; Birch, Camille L.; Boone, Braden E.; Brown, Donna M.; Dorset, Daniel C.; Handley, Lori H.; Jacob, Howard J.; Jones, Angela L.; Lazar, Jozef; Levy, Shawn E.; Newberry, J. Scott; Schroeder, Molly C.; Strong, Kimberly A.; Worthey, Elizabeth A.; Dayal, Jyoti G.; Eckstein, David J.; Gould, Sarah E.; Howerton, Ellen M.; Krasnewich, Donna M.; Mamounas, Laura A.; Manolio, Teri A.; Mulvihill, John J.; Urv, Tiina K.; Wise, Anastasia L.; Soldatos, Ariane G.; Brush, Matthew; Gourdine, Jean-Philippe F.; Haendel, Melissa; Koeller, David M.; Kyle, Jennifer E.; Metz, Thomas O.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Ashley, Euan A.; Bernstein, Jonathan A.; Dries, Annika M.; Fisher, Paul G.; Kohler, Jennefer N.; Waggott, Daryl M.; Wheeler, Matthew T.; Zornio, Patricia A.; Allard, Patrick; Barseghyan, Hayk; Dell'Angelica, Esteban C.; Dillon, Ani; Dipple, Katrina M.; Dorrani, Naghmeh; Douine, Emilie D.; Eskin, Ascia; Fogel, Brent L.; Herzog, Matthew R.; Lee, Hane; Lipson, Allen; Loo, Sandra K.; Martínez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Zheng, Allison; Adams, Christopher J.; Burke, Elizabeth A.; Chao, Katherine R.; Davids, Mariska; Draper, David D.; Estwick, Tyra; Frisby, Trevor S.; Frost, Kate; Gartner, Valerie; Godfrey, Rena A.; Goheen, Mitchell; Golas, Gretchen A.; Gordon, Mary G.; Groden, Catherine A.; Hackbarth, Mary E.; Hardee, Isabel; Johnston, Jean M.; Koehler, Alanna E.; Latham, Lea; Latour, Yvonne L.; Lau, C. Christopher; Levy, Denise J.; Liebendorfer, Adam P.; Macnamara, Ellen F.; Maduro, Valerie V.; Markello, Thomas C.; McCarty, Alexandra J.; Murphy, Jennifer L.; Nehrebecky, Michele E.; Novacic, Donna; Pusey, Barbara N.; Sadozai, Sarah; Schaffer, Katherine E.; Sharma, Prashant; Thomas, Sara P.; Tolman, Nathanial J.; Toro, Camilo; Valivullah, Zaheer M.; Wahl, Colleen E.; Warburton, Mike; Weech, Alec A.; Yu, Guoyun; Gropman, Andrea L.; Adams, David R.; Gahl, William A.; Malicdan, May Christine V.; Tifft, Cynthia J.; Wolfe, Lynne A.; Lee, Paul R.; Postlethwait, John H.; Westerfield, Monte; Bican, Anna; Cogan, Joy D.; Hamid, Rizwan; Newman, John H.; Phillips, John A., III; Robertson, Amy K.
In Genetics in Medicine April 2018 20(4):464-469
Academic Journal
Adams, Christopher J.; Adams, David R.; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mashid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Barseghyan, Hayk; Beggs, Alan H.; Bellen, Hugo J.; Bernstein, Jonathan A.; Bican, Anna; Bick, David P.; Birch, Camille L.; Boone, Braden E.; Briere, Lauren C.; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Chao, Katherine R.; Clark, Gary D.; Cogan, Joy D.; Cooper, Cynthia M.; Craigen, William J.; Davids, Mariska; Dayal, Jyoti G.; Dell’Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina M.; Donnell-Fink, Laurel A.; Dorrani, Naghmeh; Dorset, Daniel C.; Draper, David D.; Dries, Annika M.; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Estwick, Tyra; Fisher, Paul G.; Frisby, Trevor S.; Frost, Kate; Gahl, William A.; Gartner, Valerie; Godfrey, Rena A.; Goheen, Mitchell; Golas, Gretchen A.; Goldstein, David B.; Gordon, Mary G.; Gould, Sarah E.; Gourdine, Jean-Philippe F.; Graham, Brett H.; Groden, Catherine A.; Gropman, Andrea L.; Hackbarth, Mary E.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; Handley, Lori H.; Hardee, Isabel; Herzog, Matthew R.; Holm, Ingrid A.; Howerton, Ellen M.; Jacob, Howard J.; Jain, Mahim; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Koehler, Alanna E.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krasnewich, Donna M.; Krieg, Elizabeth L.; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Latham, Lea; Latour, Yvonne L.; Lau, C. Christopher; Lazar, Jozef; Lee, Brendan H.; Lee, Hane; Lee, Paul R.; Levy, Shawn E.; Levy, Denise J.; Lewis, Richard A.; Liebendorfer, Adam P.; Lincoln, Sharyn A.; Loomis, Carson R.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Mazur, Paul; McCarty, Alexandra J.; McConkie-Rosell, Allyn; McCray, Alexa T.; Metz, Thomas O.; Might, Matthew; Moretti, Paolo M.; Mulvihill, John J.; Murphy, Jennifer L.; Muzny, Donna M.; Nehrebecky, Michele E.; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Orange, Jordan S.; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Pena, Loren D.M.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Ramoni, Rachel B.; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Sadozai, Sarah; Schaffer, Katherine E.; Schoch, Kelly; Schroeder, Molly C.; Scott, Daryl A.; Sharma, Prashant; Shashi, Vandana; Silverman, Edwin K.; Sinsheimer, Janet S.; Soldatos, Ariane G.; Spillmann, Rebecca C.; Splinter, Kimberly; Stoler, Joan M.; Stong, Nicholas; Strong, Kimberly A.; Sullivan, Jennifer A.; Sweetser, David A.; Thomas, Sara P.; Tifft, Cynthia J.; Tolman, Nathanial J.; Toro, Camilo; Tran, Alyssa A.; Valivullah, Zaheer M.; Vilain, Eric; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Wangler, Michael F.; Warburton, Mike; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Weech, Alec A.; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, Yaping; Yu, Guoyun; Zornio, Patricia A.; Wang, Julia ; Al-Ouran, Rami ; Hu, Yanhui ; Kim, Seon-Young ; Wan, Ying-Wooi ; Chao, Hsiao-Tuan ; Comjean, Aram ; Mohr, Stephanie E. ; Perrimon, Norbert ; Liu, Zhandong
In The American Journal of Human Genetics 1 June 2017 100(6):843-853
Academic Journal
Ferreira, Carlos R. ; Chen, Dong ; Abraham, Shirley M. ; Adams, David R. ; Simon, Karen L. ; Malicdan, May C. ; Markello, Thomas C. ; Gunay-Aygun, Meral ; Gahl, William A.
In Molecular Genetics and Metabolism March 2017 120(3):288-294
Academic Journal
Bone, William P. ; Washington, Nicole L. ; Buske, Orion J. ; Adams, David R. ; Davis, Joie ; Draper, David ; Flynn, Elise D. ; Girdea, Marta ; Godfrey, Rena ; Golas, Gretchen ; Groden, Catherine ; Jacobsen, Julius ; Köhler, Sebastian ; Lee, Elizabeth M.J. ; Links, Amanda E. ; Markello, Thomas C. ; Mungall, Christopher J. ; Nehrebecky, Michele ; Robinson, Peter N. ; Sincan, Murat ; Soldatos, Ariane G. ; Tifft, Cynthia J. ; Toro, Camilo ; Trang, Heather ; Valkanas, Elise ; Vasilevsky, Nicole ; Wahl, Colleen ; Wolfe, Lynne A. ; Boerkoel, Cornelius F. ; Brudno, Michael ; Haendel, Melissa A. ; Gahl, William A. ; Smedley, Damian
In Genetics in Medicine June 2016 18(6):608-617
Academic Journal
Marchegiani, Shannon ; Davis, Taylor ; Tessadori, Federico ; van Haaften, Gijs ; Brancati, Francesco ; Hoischen, Alexander ; Huang, Haigen ; Valkanas, Elise ; Pusey, Barbara ; Schanze, Denny ; Venselaar, Hanka ; Vulto-van Silfhout, Anneke T. ; Wolfe, Lynne A. ; Tifft, Cynthia J. ; Zerfas, Patricia M. ; Zambruno, Giovanna ; Kariminejad, Ariana ; Sabbagh-Kermani, Farahnaz ; Lee, Janice ; Tsokos, Maria G. ; Lee, Chyi-Chia R. ; Ferraz, Victor ; da Silva, Eduarda Morgana ; Stevens, Cathy A. ; Roche, Nathalie ; Bartsch, Oliver ; Farndon, Peter ; Bermejo-Sanchez, Eva ; Brooks, Brian P. ; Maduro, Valerie ; Dallapiccola, Bruno ; Ramos, Feliciano J. ; Chung, Hon-Yin Brian ; Le Caignec, Cédric ; Martins, Fabiana ; Jacyk, Witold K. ; Mazzanti, Laura ; Brunner, Han G. ; Bakkers, Jeroen ; Lin, Shuo ; Malicdan, May Christine V. ; Boerkoel, Cornelius F. ; Gahl, William A. ; de Vries, Bert B.A. ; van Haelst, Mieke M. ; Zenker, Martin ; Markello, Thomas C.
In The American Journal of Human Genetics 2 July 2015 97(1):99-110
Academic Journal
Lam, Christina ; Golas, Gretchen A. ; Davids, Mariska ; Huizing, Marjan ; Kane, Megan S. ; Krasnewich, Donna M. ; Malicdan, May Christine V. ; Adams, David R. ; Markello, Thomas C. ; Zein, Wadih M. ; Gropman, Andrea L. ; Lodish, Maya B. ; Stratakis, Constantine A. ; Maric, Irina ; Rosenzweig, Sergio D. ; Baker, Eva H. ; Ferreira, Carlos R. ; Danylchuk, Noelle R. ; Kahler, Stephen ; Garnica, Adolfo D. ; Bradley Schaefer, G. ; Boerkoel, Cornelius F. ; Gahl, William A. ; Wolfe, Lynne A.
In Molecular Genetics and Metabolism June-July 2015 115(2-3):128-140
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