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발행년	- (예 : 2010-2015)

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

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

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Web of Science Scopus JCR 저널정보 Find it@PNU

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

Academic Journal

Dohrn, Maike F.; Bademci, Guney; Rebelo, Adriana P.; Jeanne, Médéric; Borja, Nicholas A.; Beijer, Danique; Danzi, Matt C.; Bivona, Stephanie A.; Gueguen, Paul; Zafeer, Mohammad F.; Tekin, Mustafa; Züchner, Stephan; Acosta, Maria T.; Adams, David R.; Afzali, Ben; Allworth, Aimee; Alvarez, Raquel L.; Alvey, Justin; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; 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; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Borja, Nicholas; Botto, Lorenzo; Briere, Lauren C.; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Cassini, Thomas; 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; Corner, Brian; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Delgado, Margaret; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; D' Souza, Precilla; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Ezell, Kimberly; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Fu, Jiayu; Gahl, William A.; Glass, Ian; Goddard, Page C.; Godfrey, Rena A.; Gonzalez, Joanna M.; Gropman, Andrea; Halley, Meghan C.; Hamid, Rizwan; Hanchard, Neil; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike‐Pyne, Martha; Huang, Yan; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Izumi, Kosuke; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean‐Marie, Orpa; Jobanputra, Vaidehi; Kaitryn, Emerald; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latchman, Kumarie; Leblanc, Kimberly; Lee, Brendan H.; Lewis, Richard A.; Liu, Pengfei; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; Macrae, Calum A.; Maduro, Valerie V.; Maghiro, Audreystephannie C.; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez‐Agosto, Julian A.; Marwaha, Shruti; Mcconkie‐Rosell, Allyn; Mccray, Alexa T.; Mcgee, Elisabeth; Might, Matthew; Miller, Danny; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Morimoto, Marie; Mulvihill, John J.; Nakano‐Okuno, Mariko; Nelson, Stanley F.; Neumann, Serena; Nieves‐Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Papp, Jeanette C.; Parker, Neil H.; Peart, Léshon; Petcharet, Leoyklang; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Swerdzewski, Barbara N. Pusey; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Rebelo, Adriana; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Sampson, Jacinda B.; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Sharma, Prashant; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Carson A.; Smith, Kevin S.; Solnica‐Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stergachis, Andrew; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.‐G.; Tan, Amelia L.M.; Tarakad, Arjun; Taylor, Herman; 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; 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; Yamamoto, Shinya; Zhang, Zhe

Annals of Clinical and Translational Neurology. April, 2024, Vol. 11 Issue 4, p1075, 1079 p.

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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

Academic Journal

Donkervoort, Sandra; Mohassel, Payam; O'Leary, Melanie; Bonner, Devon E.; Hartley, Taila; Acquaye, Nicole; Brull, Astrid; Mozaffar, Tahseen; Saporta, Mario A.; Dyment, David A.; Sampson, Jacinda B.; Pajusalu, Sander; Austin‐Tse, Christina; Hurth, Kyle; Cohen, Julie S.; Mcwalter, Kirsty; Warman‐Chardon, Jodi; Crunk, Amy; Foley, A. Reghan; Acosta, Maria T.; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Allworth, Aimee; Andrews, Ashley; Ashley, Euan A.; Afzali, Ben; 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; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Cassini, Thomas; 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.; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D' Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Delgado, Margaret; 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.; Fu, Jiayu; Gahl, William A.; Glass, Ian; Goddard, Page C.; Godfrey, Rena A.; Gropman, Andrea; Halley, Meghan C.; Hamid, Rizwan; Hanchard, Neal; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike‐Pyne, Martha; Huang, Alden; Huang, Yan; Hutchison, Sarah; Introne, Wendy; Izumi, Kosuke; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean‐Marie, Orpa; Jobanputra, Vaidehi; Kaitryn, Emerald; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Leblanc, Kimberly; Lee, Brendan H.; Lewis, Richard A.; Liu, Pengfei; 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; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez‐Agosto, Julian A.; Marwaha, Shruti; Mcconkie‐Rosell, Allyn; Mccray, Alexa T.; Mcgee, Elisabeth; Might, Matthew; Mikati, Mohamad; Miller, Danny; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Morimoto, Marie; Mulvihill, John J.; Nakano‐Okuno, Mariko; Nelson, Stanley F.; Nieves‐Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Papp, Jeanette C.; Parker, Neil H.; Petcharet, Leoyklang; 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.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Sharma, Prashant; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Kevin S.; Solnica‐Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stergachis, Andrew; Stoler, Joan M.; Sullivan, Kathleen; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.‐G.; Amelia, L.M. Tan; Tarakad, Arjun; Taylor, Herman; Tekin, Mustafa; 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; 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; Yamamoto, Shinya; Zhang, Zhe; Zuchner, Stephan; Mammen, Andrew L.; O'Donnell‐Luria, Anne; Bönnemann, Carsten G.

Annals of Clinical and Translational Neurology. March, 2024, Vol. 11 Issue 3, p629, 640 p.

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Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

Academic Journal

Fitzsimmons, Lane; Acosta, Maria T.; Adams, David R.; Afzali, Ben; Al-Beshri, Ali; Allenspach, Eric; Allworth, Aimee; Alvarez, Raquel L.; Alvey, Justin; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Baldwin, Erin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Borja, Nicholas; Botto, Lorenzo; Briere, Lauren C.; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Callaway, Kaitlin; Carey, John; Carvalho, George; Cassini, Thomas; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Corner, Brian; Corona, Rosario I.; Craigen, William J.; Crouse, Andrew B.; Cuddapah, Vishnu; D'Souza, Precilla; Dai, Hongzheng; Darr, Kahlen; Dasari, Surendra; Davis, Joie; Delgado, Margaret; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douglas, Jessica; Douine, Emilie D.; Earl, Dawn; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Ezell, Kimberly; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Fu, Jiayu; Gahl, William A.; Ganetzky, Rebecca; Glanton, Emily; Glass, Ian; Goddard, Page C.; Gonzalez, Joanna M.; Gropman, Andrea; Halley, Meghan C.; Hamid, Rizwan; Hanchard, Neal; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yan; Hurst, Anna; Introne, Wendy; Jarvik, Gail P.; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Kanca, Oguz; Karasozen, Yigit; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Klee, Eric; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korf, Bruce; Korrick, Susan; Krakow, Deborah; Kravets, Elijah; Lalani, Seema R.; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latchman, Kumarie; LeBlanc, Kimberly; Lee, Brendan H.; Leppig, Kathleen A.; Lewis, Richard A.; Liu, Pengfei; Longo, Nicola; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mao, Rong; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McConkie-Rosell, Allyn; McMinn, Ashley; Might, Matthew; Mikati, Mohamad; Miller, Danny; Mirzaa, Ghayda; Mitchell, Breanna; Moretti, Paolo; Morimoto, Marie; Mulvihill, John J.; Mulvihill, Lindsay; Nakano-Okuno, Mariko; Nelson, Stanley F.; Neumann, Serena; Nitsuh, Dargie; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Parker, Neil H.; Peart, LéShon; Petcharet, Leoyklang; Phillips, John A.; Vairo, Filippo Pinto e; Posey, Jennifer E.; Potocki, Lorraine; Swerdzewski, Barbara N. Pusey; Quinlan, Aaron; Rader, Daniel J.; Rajagopalan, Ramakrishnan; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Rebelo, Adriana; Reuter, Chloe M.; Rives, Lynette; Rodan, Lance H.; Rodriguez, Martin; Rosenfeld, Jill A.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Sampson, Jacinda B.; Schedl, Timothy; Schimmenti, Lisa; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin K.; Sirugo, Giorgio; Sisco, Kathy; Skelton, Tammi; Skraban, Cara; Smith, Carson A.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stergachis, Andrew; Stoler, Joan M.; Sullivan, Kathleen; Sunyaev, Shamil R.; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie; Tarakad, Arjun; Taylor, Herman; Tekin, Mustafa; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Walley, Nicole M.; Wambach, Jennifer; 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.; Wood, Heidi; Worley, Kim; Yamamoto, Shinya; Zhang, Zhe; Zuchner, Stephan

BioData Mining. January 17, 2025, Vol. 18 Issue 1

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Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

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.

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Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

Academic Journal

Halley, Meghan C., PhD; Young, Jennifer L., PhD; Tang, Charis, BA; Mintz, Kevin T., PhD; Lucas-Griffin, Sawyer, BA(c); Maghiro, AudreyStephannie, BA; Ashley, Euan A., MB ChB, MRCP, DPhil; Tabor, Holly K., PhD; 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

The Journal of Pediatrics. 261

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LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

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

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In vitro effects of Type I interferons (IFNτ and IFNα) on bovine hepatocytes cultured with or without Kupffer cells

Academic Journal

Kai Josef Endriß; Marie Margarete Meyerholz; Teresa Fischbach; Lutz Brimmers; Christiane Pfarrer; Christina Deborah Marth; Marion Schmicke

Reproduction, Fertility and Development. 33:305-317

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Gene expression in bovine endometrial cells and blood-derived neutrophils stimulated by uterine secretions

Academic Journal

Maren, Hillmer; Christina Deborah, Marth; Marie Margarete, Meyerholz; Daniela, Klaus-Halla; Heinz-Adolf, Schoon; Frank, Weber; Hans-Joachim, Schuberth; Holm, Zerbe

Theriogenology. 157:458-466

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De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

Academic Journal

Acosta, Maria T.; Adams, David R.; Afzali, Ben; Al-Beshri, Ali; Allenspach, Eric; Allworth, Aimee; Alvarez, Raquel L.; Alvey, Justin; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Baldwin, Erin; Bale, Jim; Balton, Elsa; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Bernstein, Jonathan A.; Berry, Gerard T.; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Borja, Nicholas; Botto, Lorenzo; Briere, Lauren C.; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Callaway, Kaitlin; Carey, John; Carvalho, George; Cassini, Thomas; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Corner, Brian; Corona, Rosario I.; Craigen, William J.; Crouse, Andrew B.; Cuddapah, Vishnu; D’Souza, Precilla; Dai, Hongzheng; Dargie, Nitsuh K.; Darr, Kahlen; Dasari, Surendra; Davis, Joie; Delgado, Margaret; Dell’Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douglas, Jessica; Douine, Emilie D.; Earl, Dawn; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Ezell, Kimberly; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Fu, Jiayu; Gahl, William A.; Ganetzky, Rebecca; Glanton, Emily; Glass, Ian; Goddard, Page C.; Gonzalez, Joanna M.; Gropman, Andrea; Halley, Meghan C.; Hamid, Rizwan; Hanchard, Neal; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yan; Hurst, Anna; Introne, Wendy; Jarvik, Gail P.; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Kanca, Oguz; Karasozen, Yigit; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Klee, Eric; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korf, Bruce; Korrick, Susan; Krakow, Deborah; Kravets, Elijah; Lalani, Seema R.; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latchman, Kumarie; LeBlanc, Kimberly; Lee, Brendan H.; Leppig, Kathleen A.; Lewis, Richard A.; Liu, Pengfei; Longo, Nicola; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mao, Rong; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McConkie-Rosell, Allyn; McMinn, Ashley; Might, Matthew; Mikati, Mohamad; Miller, Danny; Mirzaa, Ghayda; Mitchell, Breanna; Moretti, Paolo; Morimoto, Marie; Mulvihill, John J.; Mulvihill, Lindsay; Nakano-Okuno, Mariko; Nelson, Stanley F.; Neumann, Serena; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Parker, Neil H.; Peart, LéShon; Petcharet, Leoyklang; Phillips, John A., III; e Vairo, Filippo Pinto; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rader, Daniel J.; Rajagopalan, Ramakrishnan; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Rebelo, Adriana; Reuter, Chloe M.; Rives, Lynette; Rodan, Lance H.; Rodriguez, Martin; Rosenfeld, Jill A.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Sampson, Jacinda B.; Schedl, Timothy; Schimmenti, Lisa; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin K.; Sirugo, Giorgio; Sisco, Kathy; Skelton, Tammi; Skraban, Cara; Smith, Carson A.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stergachis, Andrew; Stoler, Joan M.; Sullivan, Kathleen; Sunyaev, Shamil R.; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie; Tarakad, Arjun; Taylor, Herman; Tekin, Mustafa; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Walley, Nicole M.; Wambach, Jennifer; 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.; Wood, Heidi; Worley, Kim; Yamamoto, Shinya; Zhang, Zhe; Zuchner, Stephan; Jangam, Sharayu V. ; von Hardenberg, Sandra ; Bergmann, Anke ; Richter, Manuela Friederike ; Rydzanicz, Malgorzata ; Ploski, Rafal ; Stembalska, Agnieszka ; Chung, Wendy K. ; Hernan, Rebecca R. ; Lim, Foong Y. ; Brunet, Theresa ; Syrbe, Steffen ; Keren, Boris ; Heide, Solveig ; Murdock, David R. ; Xia, Fan ; Dawson, Brian ; Narayanan, Vinodh ; Graves, Hillary K. ; Bacino, Carlos ; Lee, Brendan

In Genetics in Medicine April 2025 27(4)

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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Academic Journal

Acosta, Maria T.; Adams, David R.; Raquel; Alvarez, L.; Alvey, Justin; Allworth, Aimee; 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; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Carvhalo Neto, George D.; 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.; 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.; Grajewski, Alana; Hadley, Don; 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; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Kaitryn, Emerald; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; 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; 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; Might, Matthew; Miller, Danny; Mirzaa, Ghayda; Moore, Ryan M.; Morava, Eva; Moretti, Paolo; Mulvihill, John J.; Nakano-Okuno, Mariko; Nelson, Stanley F.; 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.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stergachis, Andrew; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; 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; 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; Huang, Yue ; Jay, Kristy L. ; Yen-Wen Huang, Alden ; Jangam, Sharayu V. ; Chorin, Odelia ; Rothschild, Annick ; Barel, Ortal ; Mariani, Milena ; Iascone, Maria ; Xue, Han ; Huang, Jing ; Mignot, Cyril ; Keren, Boris ; Saillour, Virginie ; Mah-Som, Annelise Y. ; Sacharow, Stephanie ; Rajabi, Farrah ; Costin, Carrie ; Kanca, Oguz ; Martinez-Agosto, Julian A.

In Genetics in Medicine November 2024 26(11)

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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

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)

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ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy

Academic Journal

Quinlan, Aaron; Vanderver, Adeline; Rebelo, Adriana; Allworth, Aimee; Beggs, Alan H.; Huang, Alden; Paul, Alex; Al-Beshri, Ali; Ward, Alistair; McConkie-Rosell, Allyn; Tran, Alyssa A.; Gropman, Andrea; Vargas, Andres; Crouse, Andrew B.; Stergachis, Andrew; Beck, Anita; Hurst, Anna; Raper, Anna; Hing, Anne; Tarakad, Arjun; Andrews, Ashley; McMinn, Ashley; Balasubramanyam, Ashok; Maghiro, AudreyStephannie C.; Pusey Swerdzewski, Barbara N.; Afzali, Ben; Solomon, Ben; Martin, Beth A.; Mitchell, Breanna; Lanpher, Brendan C.; Lee, Brendan H.; Fogel, Brent L.; Graham, Brett H.; Corner, Brian; Korf, Bruce; MacRae, Calum A.; Toro, Camilo; Skraban, Cara; Bacino, Carlos A.; Smith, Carson A.; Esteves, Cecilia; Xiao, Changrui; Reuter, Chloe M.; Lam, Christina; Eng, Christine M.; Henchcliffe, Claire; Wahl, Colleen E.; Welt, Corrine K.; Tifft, Cynthia J.; Kiley, Dana; Doherty, Daniel; Rader, Daniel J.; Wegner, Daniel; Miller, Danny; Scott, Daryl A.; Viskochil, Dave; Sweetser, David A.; Adams, David R.; Earl, Dawn; Barbouth, Deborah; Rao, Deepak A.; Oglesbee, Devin; Bonner, Devon; Novacic, Donna; Baldridge, Dustin; Behrens, Edward; Silverman, Edwin K.; Seto, Elaine; Kravets, Elijah; Burke, Elizabeth A.; Blue, Elizabeth; Fieg, Elizabeth L.; Rosenthal, Elizabeth; Macnamara, Ellen F.; Balton, Elsa; Glanton, Emily; Shelkowitz, Emily; Allenspach, Eric; Klee, Eric; Vilain, Eric; Baldwin, Erin; Conboy, Erin; Baldwin, Erin E.; McRoy, Erin; Dell'Angelica, Esteban C.; Ashley, Euan A.; Cole, F. Sessions; Pinto e Vairo, Filippo; High, Frances; Vetrini, Francesco; Rossignol, Francis; Hisama, Fuki M.; Marth, Gabor; Jarvik, Gail P.; Clark, Gary D.; Carvalho, George; Berry, Gerard T.; Mirzaa, Ghayda; Bejerano, Gill; Sirugo, Giorgio; Kilich, Gonench; Bademci, Guney; Wood, Heidi; Taylor, Herman; Tabor, Holly K.; Dai, Hongzheng; Chao, Hsiao-Tuan; Bellen, Hugo J.; Glass, Ian; Lanza, Ian R.; Holm, Ingrid A.; Kohane, Isaac S.; Chinn, Ivan; Pallais, J. Carl; Sampson, Jacinda B.; Orengo, James P.; Hom, Jason; Kohler, Jennefer N.; Posey, Jennifer E.; Wambach, Jennifer; Douglas, Jessica; Fu, Jiayu; Rosenfeld, Jill A.; Shin, Jimann; Bennett, Jimmy; Stoler, Joan M.; Gonzalez, Joanna M.; Phillips, John A., III; Carey, John; Mulvihill, John J.; Davis, Joie; Bernstein, Jonathan A.; Whitlock, Jordan; Abdenur, Jose; Loscalzo, Joseph; Cogan, Joy D.; Martínez-Agosto, Julian A.; Alvey, Justin; Darr, Kahlen; Callaway, Kaitlin; Leppig, Kathleen A.; Sullivan, Kathleen; Sisco, Kathy; Singh, Kathyrn; Dipple, Katrina; Treat, Kayla M.; Hassey, Kelly; Schoch, Kelly; Smith, Kevin S.; Liaqat, Khurram; Worley, Kim; Ezell, Kimberly; LeBlanc, Kimberly; Latchman, Kumarie; Rodan, Lance H.; Pace, Laura; Cobban, Laurel A.; Briere, Lauren C.; Petcharet, Leoyklang; Peart, LéShon; Mantcheva, Lili; Solnica-Krezel, Lilianna; Burrage, Lindsay C.; Mulvihill, Lindsay; Schimmenti, Lisa; Emrick, Lisa T.; Botto, Lorenzo; Potocki, Lorraine; Rives, Lynette; Wolfe, Lynne A.; Butte, Manish J.; Delgado, Margaret; Acosta, Maria T.; Morimoto, Marie; Nakano-Okuno, Mariko; Wener, Mark; Sabaii, Marla; Horike-Pyne, Martha; Martin, Martin G.; Rodriguez, Martin; Velinder, Matt; Coggins, Matthew; Might, Matthew; Wheeler, Matthew T.; Ruzhnikov, Maura; Malicdan, MayChristine V.; Halley, Meghan C.; Walker, Melissa; Bamshad, Michael; Wangler, Michael F.; Almalvez, Miguel; Mikati, Mohamad; Hubshman, Monika Weisz; Westerfield, Monte; Tekin, Mustafa; Dorrani, Naghmeh; Parker, Neil H.; Hanchard, Neil; Borja, Nicholas; Longo, Nicola; Walley, Nicole M.; Movsesyan, Nina; Dargie, Nitsuh K.; Kanca, Oguz; Jean-Marie, Orpa; Goddard, Page C.; Moretti, Paolo; Ward, Patricia A.; Dickson, Patricia; Fisher, Paul G.; Liu, Pengfei; Byers, Peter; Bayrak-Toydemir, Pinar; D'Souza, Precilla; Tan, Queenie; Ungar, Rachel A.; Mahoney, Rachel; Rajagopalan, Ramakrishnan; Alvarez, Raquel L.; Spillmann, Rebecca C.; Ganetzky, Rebecca; Overbury, Rebecca; Barrick, Rebekah; Lewis, Richard A.; Maas, Richard L.; Hamid, Rizwan; Mao, Rong; Marom, Ronit; Corona, Rosario I.; Butterfield, Russell; Sheppeard, Sam; Attaripour, Sanaz; Lalani, Seema R.; Neumann, Serena; Ketkar, Shamika; Sunyaev, Shamil R.; Kobren, Shilpa N.; Yamamoto, Shinya; Sutton, Shirley; Marwaha, Shruti; Chanprasert, Sirisak; Nelson, Stanley F.; Zuchner, Stephan; Bivona, Stephanie; Ware, Stephanie M.; Pak, Stephen; Boyden, Steven; Jayadev, Suman; Dasari, Surendra; Korrick, Susan; Sandmeyer, Suzanne; Mozaffar, Tahseen; Skelton, Tammi; Wenger, Tara; Coakley, Terra R.; Cassini, Thomas; Nicholas, Thomas J.; Schedl, Timothy; Vogel, Tiphanie P.; Jobanputra, Vaidehi; Maduro, Valerie V.; Shashi, Vandana; Sybert, Virginia; Cuddapah, Vishnu; Introne, Wendy; Raskind, Wendy; Thorson, Willa; Gahl, William A.; Byrd, William E.; Craigen, William J.; Huang, Yan; Karasozen, Yigit; Dore, Rhys ; Chang, Chu-Ting ; Declève, Amber ; Brunori, Gloria ; Ludlam, W. Grant ; Movahedinia, Mojtaba ; Damseh, Nadirah S. ; Anwar, Ijaz ; Vahidi Mehrjardi, Mohammad Yahya ; Ny, Annelii ; Khorrami, Mehdi ; Kheirollahi, Majid ; Frederiksen, Helen ; Eghbal, Fatemeh ; Mirjalili, Mohammad Reza ; Dehghani, Mohammadreza ; Karimiani, Ehsan Ghayoor ; Oreshkov, Sergey ; Alves, Cesar ; Striano, Pasquale ; Suri, Mohnish ; Martinez-Agosto, Julian ; Ansar, Muhammad ; Zahid, Muhammad ; Akram, Samra ; Antonarakis, Stylianos E. ; Houlden, Henry ; Copmans, Daniëlle ; Martemyanov, Kirill A. ; Maroofian, Reza

In Genetics in Medicine June 2025

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Participation in a national diagnostic research study: assessing the patient experience

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

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Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

Academic Journal

Acosta, Maria T.; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Allworth, Aimee; 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; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; 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.; 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.; Grajewski, Alana; Hadley, Don; 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; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Kaitryn, Emerald; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; 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; 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; Might, Matthew; Miller, Danny; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John J.; Nakano-Okuno, Mariko; Nelson, Stanley F.; 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.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stergachis, Andrew; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; 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; 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; Pucel, Jenna ; Reuter, Chloe ; Gochyyev, Perman

In Genetics in Medicine June 2024 26(6)

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The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Academic Journal

Acosta, Maria T.; Adams, David R.; Afzali, Ben; Al-Beshri, Ali; Allworth, Aimee; Alvarez, Raquel L.; Alvey, Justin; 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; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Borja, Nicholas; Botto, Lorenzo; Briere, Lauren C.; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Callaway, Kaitlin; Carey, John; Carvalho, George; Cassini, Thomas; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Corner, Brian; Corona, Rosario I.; Craigen, William J.; Crouse, Andrew B.; Cuddapah, Vishnu; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Delgado, Margaret; Dell’Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douglas, Jessica; Douine, Emilie D.; Earl, Dawn; Emrick, Lisa T.; Eng, Christine M.; Ezell, Kimberly; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Fu, Jiayu; Gahl, William A.; Ganetzky, Rebecca; Glanton, Emily; Glass, Ian; Goddard, Page C.; Gonzalez, Joanna M.; Gropman, Andrea; Halley, Meghan C.; Hamid, Rizwan; Hanchard, Neal; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yan; Hurst, Anna; Introne, Wendy; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Marie, Orpa Jean; Jobanputra, Vaidehi; Kaitryn, Emerald; Kanca, Oguz; Karasozen, Yigit; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korf, Bruce; Korrick, Susan; Krakow, Deborah; Kravets, Elijah; Lalani, Seema R.; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latchman, Kumarie; LeBlanc, Kimberly; Lee, Brendan H.; Lewis, Richard A.; Liu, Pengfei; Longo, Nicola; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, Audrey Stephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mao, Rong; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McConkie-Rosell, Allyn; McCray, Alexa T.; Might, Matthew; Mikati, Mohamad; Miller, Danny; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Morimoto, Marie; Mulvihill, John J.; Nakano-Okuno, Mariko; Nelson, Stanley F.; Neumann, Serena; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Parker, Neil H.; Peart, LéShon; Petcharet, Leoyklang; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rajagopalan, Ramakrishnan; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Rebelo, Adriana; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rodriguez, Martin; Rosenfeld, Jill A.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Sampson, Jacinda B.; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin K.; Sisco, Kathy; Skelton, Tammi; Skraban, Cara; Smith, Carson A.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stergachis, Andrew; Stoler, Joan M.; Sullivan, Kathleen; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tarakad, Arjun; Taylor, Herman; Tekin, Mustafa; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Walley, Nicole M.; Wambach, Jennifer; 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.; Wood, Heidi; Worley, Kim; Yamamoto, Shinya; Zhang, Zhe; Zuchner, Stephan; Findley, Laura ; Ni, Weihong ; Sinsheimer, Janet S. ; Cole, F. Session ; Esteves, Cecilia ; Newman, John H. ; Mokry, Jill R.

In Genetics in Medicine October 2024 26(10)

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

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

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Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Academic Journal

Bacino, Carlos A.; Balasubramanyam, Ashok; Burrage, Lindsay C.; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Craigen, William J.; Dai, Hongzheng; Emrick, Lisa T.; Ketkar, Shamika; Lalani, Seema R.; Lee, Brendan H.; Lewis, Richard A.; Marom, Ronit; Orengo, James P.; Posey, Jennifer E.; Potocki, Lorraine; Rosenfeld, Jill A.; Seto, Elaine; Scott, Daryl A.; Tarakad, Arjun; Tran, Alyssa A.; Vogel, Tiphanie P.; Hubshman, Monika Weisz; Worley, Kim; Bellen, Hugo J.; Wangler, Michael F.; Yamamoto, Shinya; Kanca, Oguz; Eng, Christine M.; Liu, Pengfei; Ward, Patricia A.; Behrens, Edward; Falk, Marni; Hassey, Kelly; Izumi, Kosuke; Kilich, Gonench; Sullivan, Kathleen; Vanderver, Adeline; Zhang, Zhe; Raper, Anna; Jobanputra, Vaidehi; Mikati, Mohamad; McConkie-Rosell, Allyn; Schoch, Kelly; Shashi, Vandana; Spillmann, Rebecca C.; Tan, Queenie K.-G.; Walley, Nicole M.; Beggs, Alan H.; Berry, Gerard T.; Briere, Lauren C.; Cobban, Laurel A.; Coggins, Matthew; Fieg, Elizabeth L.; High, Frances; Holm, Ingrid A.; Korrick, Susan; 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; Douglas, Jessica; Glanton, Emily; Kobren, Shilpa N.; Kohane, Isaac S.; LeBlanc, Kimberly; Maghiro, Audrey Stephannie C.; Mahoney, Rachel; McCray, Alexa T.; Tan, Amelia L.M.; Dasari, Surendra; Lanpher, Brendan C.; Lanza, Ian R.; Morava, Eva; Oglesbee, Devin; Bademci, Guney; Barbouth, Deborah; Bivona, Stephanie; Borja, Nicholas; Gonzalez, Joanna M.; Latchman, Kumarie; Peart, LéShon; Rebelo, Adriana; Smith, Carson A.; Tekin, Mustafa; Thorson, Willa; Zuchner, Stephan; Taylor, Herman; Colley, Heather A.; Dayal, Jyoti G.; Doss, Argenia L.; Eckstein, David J.; Hutchison, Sarah; Krasnewich, Donna M.; Mamounas, Laura A.; Manolio, Teri A.; Urv, Tiina K.; Acosta, Maria T.; D'Souza, Precilla; Gropman, Andrea; Macnamara, Ellen F.; Maduro, Valerie V.; Mulvihill, John J.; Novacic, Donna; Pusey Swerdzewski, Barbara N.; Toro, Camilo; Wahl, Colleen E.; Adams, David R.; Afzali, Ben; Burke, Elizabeth A.; Davis, Joie; Delgado, Margaret; Fu, Jiayu; Gahl, William A.; Hanchard, Neil; Huang, Yan; Introne, Wendy; Jean-Marie, Orpa; Malicdan, May Christine V.; Morimoto, Marie; Petcharet, Leoyklang; Rossignol, Francis; Sabaii, Marla; Solomon, Ben; Tifft, Cynthia J.; Wolfe, Lynne A.; Wood, Heidi; Allworth, Aimee; Bamshad, Michael; Beck, Anita; Bennett, Jimmy; Blue, Elizabeth; Byers, Peter; Chanprasert, Sirisak; Cunningham, Michael; Dipple, Katrina; Doherty, Daniel; Earl, Dawn; Glass, Ian; Hing, Anne; Hisama, Fuki M.; Horike-Pyne, Martha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Kaitryn, Emerald; Lam, Christina; Miller, Danny; Mirzaa, Ghayda; Raskind, Wendy; Rosenthal, Elizabeth; Shelkowitz, Emily; Sheppeard, Sam; Stergachis, Andrew; Sybert, Virginia; Wener, Mark; Wenger, Tara; Alvarez, Raquel L.; Bejerano, Gill; Bernstein, Jonathan A.; Bonner, Devon; Coakley, Terra R.; Fisher, Paul G.; Goddard, Page C.; Halley, Meghan C.; Hom, Jason; Kohler, Jennefer N.; Kravets, Elijah; Martin, Beth A.; Marwaha, Shruti; Reuter, Chloe M.; Ruzhnikov, Maura; Sampson, Jacinda B.; Smith, Kevin S.; Sutton, Shirley; Tabor, Holly K.; Ungar, Rachel A.; Wheeler, Matthew T.; Ashley, Euan A.; Byrd, William E.; Crouse, Andrew B.; Might, Matthew; Nakano-Okuno, Mariko; Whitlock, Jordan; Butte, Manish J.; Corona, Rosario; Dell'Angelica, Esteban C.; Dorrani, Naghmeh; Douine, Emilie D.; Fogel, Brent L.; Huang, Alden; Krakow, Deborah; Loo, Sandra K.; Martin, Martin G.; Martínez-Agosto, Julian A.; McGee, Elisabeth; Nelson, Stanley F.; Nieves-Rodriguez, Shirley; Papp, Jeanette C.; Parker, Neil H.; Renteria, Genecee; Sinsheimer, Janet S.; Wan, Jijun; Alvey, Justin; Andrews, Ashley; Bale, Jim; Bohnsack, John; Botto, Lorenzo; Carey, John; Longo, Nicola; Moretti, Paolo; Pace, Laura; Quinlan, Aaron; Velinder, Matt; Viskochil, Dave; Marth, Gabor; Bayrak-Toydemir, Pinar; Mao, Rong; Westerfield, Monte; Bican, Anna; Cassini, Thomas; Corner, Brian; Hamid, Rizwan; Neumann, Serena; Phillips, John A., III; Rives, Lynette; Robertson, Amy K.; Ezell, Kimberly; Cogan, Joy D.; Hayes, Nichole; Kiley, Dana; Sisco, Kathy; Wambach, Jennifer; Wegner, Daniel; Baldridge, Dustin; Cole, F. Sessions; Pak, Stephen; Schedl, Timothy; Shin, Jimann; Solnica-Krezel, Lilianna; Moulton, Matthew J. ; Atala, Kristhen ; Zheng, Yiming ; Dutta, Debdeep ; Grange, Dorothy K. ; Lin, Wen-Wen ; Wegner, Daniel J. ; Wambach, Jennifer A. ; Duker, Angela L. ; Bober, Michael B. ; Kratz, Lisa ; Wise, Carol A. ; Oxendine, Ila ; Khanshour, Anas ; Rios, Jonathan

In Genetics in Medicine September 2024 26(9)

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Continuing a search for a diagnosis: the impact of adolescence and family dynamics

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

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De novo variants in DENND5B cause a neurodevelopmental disorder

Academic Journal

Acosta, Maria T.; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Allworth, Aimee; Andrews, Ashley; Ashley, Euan A.; Afzali, Ben; 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; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; 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, HsiaoTuan; 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.; Delgado, Margaret; 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; Fu, Jiayu; Gahl, William A.; Glass, Ian; Goddard, Page C.; Godfrey, Rena A.; Grajewski, Alana; Gropman, Andrea; Halley, Meghan C.; Hamid, Rizwan; Hanchard, Neal; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yan; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Kaitryn, Emerald; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; 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; 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; Might, Matthew; Miller, Danny; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Morimoto, Marie; Mulvihill, John J.; Nakano-Okuno, Mariko; Nelson, Stanley F.; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Papp, Jeanette C.; Parker, Neil H.; Petcharet, Leoyklang; Phillips, John A., III; 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.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Sharma, Prashant; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stergachis, Andrew; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tarakad, Arjun; Taylor, Herman; 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; 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; Yamamoto, Shinya; Zhang, Zhe; Zuchner, Stephan; Scala, Marcello ; Tomati, Valeria ; Ferla, Matteo ; Lena, Mariateresa ; Cohen, Julie S. ; Fatemi, Ali ; Brokamp, Elly ; Koziura, Mary E. ; Nicouleau, Michael ; Rio, Marlene ; Siquier, Karine ; Boddaert, Nathalie ; Musante, Ilaria ; Tamburro, Serena ; Baldassari, Simona ; Iacomino, Michele ; Scudieri, Paolo ; Bellus, Gary ; Reed, Sara ; Al Saif, Hind ; Russo, Rossana Sanchez ; Walsh, Matthew B. ; Cantagrel, Vincent ; Crunk, Amy ; Gustincich, Stefano ; Ruggiero, Sarah M. ; Fitzgerald, Mark P. ; Helbig, Ingo ; Striano, Pasquale ; Severino, Mariasavina ; Salpietro, Vincenzo ; Pedemonte, Nicoletta ; Zara, Federico

In The American Journal of Human Genetics 7 March 2024 111(3):529-543

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