학술논문

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ㅏ	あ a	ぁ	か ka	が ga	さ sa	ざ za	た ta	だ da		な na	は ha	ば ba	ぱ pa	ま ma	や ya	ゃ lya	ら ra	わ wa	ゎ lwa	ん n
l	い i	ぃ	き ki	ぎ gi	し si	じ zi	ち ti	ぢ di		に ni	ひ hi	び bi	ぴ pi	み mi			り ri
ㅜ	う u	ぅ	く ku	ぐ gu	す su	ず zu	つ tu	づ du	っ	ぬ nu	ふ hu	ぶ bu	ぷ pu	む mu	ゆ yu	ゅ lyu	る ru
ㅔ	え e	ぇ	け ke	げ ge	せ se	ぜ ze	て te	で de		ね ne	へ he	べ be	ぺ pe	め me			れ re
ㅗ	お o	ぉ	こ ko	ご go	そ so	ぞ zo	と to	ど do		の no	ほ ho	ぼ bo	ぽ po	も mo	よ yo	ょ lyo	ろ ro	を wo

	o	ㅋ	ㄱ	ㅅ	ㅈ	ㅌ	ㄷ	촉	ㄴ	ㅎ	ㅂ	ㅃ	ㅁ	야	ㄹ	와
ㅏ	ア a	ァ	カ ka	ガ ga	サ sa	ザ za	タ ta	ダ da		ナ na	ハ ha	バ ba	パ pa	マ ma	ヤ ya	ャ lya	ラ ra	ワ wa	ヮ lwa		ン n
l	イ i	ィ	キ ki	ギ gi	シ si	ジ zi	チ ti	ヂ di		ニ ni	ヒ hi	ビ bi	ピ pi	ミ mi			リ ri
ㅜ	ウ u	ゥ	ク ku	グ gu	ス su	ズ zu	ツ tu	ヅ du	ッ	ヌ nu	フ hu	ブ bu	プ pu	ム mu	ユ yu	ュ lyu	ル ru			ヴ vu
ㅔ	エ e	ェ	ケ ke	ゲ ge	セ se	ゼ ze	テ te	デ de		ネ ne	ヘ he	ベ be	ぺ pe	メ me			レ re
ㅗ	オ o	ォ	コ ko	ゴ go	ソ so	ゾ zo	ト to	ド do		ノ no	ホ ho	ボ bo	ポ po	モ mo	ヨ yo	ョ lyo	ロ ro	ヲ wo		ーー

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발행년	- (예 : 2010-2015)

Sacrificial Ritual and the Palace of Nestor: A Reanalysis of the Ta Tablets

Academic Journal

Morton, J.; Blackwell, N. G.; Mahoney, Kyle W.

American Journal of Archaeology. 127:167-187

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

Academic Journal

Maria Carla Borroto; Heena Patel; Siddharth Srivastava; Lindsay C. Swanson; Boris Keren; Sandra Whalen; Cyril Mignot; Xiaodong Wang; Qian Chen; Jill A. Rosenfeld; Scott McLean; Rebecca O. Littlejohn; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley; Sihoun Hahn; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Jennifer Kennedy; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Mary Kozuira; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Richard A. Lewis; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; AudreyStephannie Maghiro; Rachel Mahoney; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; Heather Mefford; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo Moretti; John Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey Swerdzewski; Aaron Quinlan; Deepak A. Rao; Anna Raper; Wendy Raskind; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; C. Ron Scott; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Emily Solem; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Kathleen Sullivan; Jennifer A. Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Queenie K.-G. Tan; Amelia L.M. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Rachel A. Ungar; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz Hubshman; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Zhe Zhang; Stephan Zuchner; Lisa Emrick; Ruben Attali; Gaetan Lesca; Cecile Acquaviva-Bourdain; Catherine Sarret; Laurie H. Seaver; Konrad Platzer; Tobias Bartolomaeus; Cornelia Wünsch; Susann Fischer; Ana Maria Rodriguez Barreto; Jorge L. Granadillo; Elisabeth Schreiner; Theresa Brunet; Ulrich A. Schatz; Isabelle Thiffault; Sureni V. Mullegama; Jacques L. Michaud; Fadi F. Hamdan; Elsa Rossignol; Philippe M. Campeau

Pediatric Neurology. 160:45-53

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De novo variants in DENND5B cause a neurodevelopmental disorder

Academic Journal

Scala, Marcello; Tomati, Valeria; Ferla, Matteo; Lena, Mariateresa; Cohen, Julie; Fatemi, Ali; Brokamp, Elly; Bican, Anna; Phillips, John; Koziura, Mary; Nicouleau, Michael; Rio, Marlene; Siquier, Karine; Boddaert, Nathalie; Musante, Ilaria; Tamburro, Serena; Baldassari, Simona; Iacomino, Michele; Scudieri, Paolo; Rosenfeld, Jill; Bellus, Gary; Reed, Sara; Al Saif, Hind; Russo, Rossana; Walsh, Matthew; Cantagrel, Vincent; Crunk, Amy; Gustincich, Stefano; Ruggiero, Sarah; Fitzgerald, Mark; Helbig, Ingo; Striano, Pasquale; Severino, Mariasavina; Salpietro, Vincenzo; Pedemonte, Nicoletta; Zara, Federico; Acosta, Maria; Adams, David; Alvarez, Raquel; Alvey, Justin; Allworth, Aimee; Andrews, Ashley; Ashley, Euan; Afzali, Ben; Bacino, Carlos; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan; Behrens, Edward; Bejerano, Gill; Bellen, Hugo; Bennett, Jimmy; Bernstein, Jonathan; Berry, Gerard; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Briere, Lauren; Brown, Gabrielle; Burke, Elizabeth; Burrage, Lindsay; Butte, Manish; Byers, Peter; Byrd, William; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta; Chanprasert, Sirisak; Chao, Hsiaotuan; Chinn, Ivan; Clark, Gary; Coakley, Terra; Cobban, Laurel; Cogan, Joy; Coggins, Matthew; Cole, F; Colley, Heather; Cope, Heidi; Corona, Rosario; Craigen, William; Crouse, Andrew; Cunningham, Michael; D’souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti; Delgado, Margaret; Dell'Angelica, Esteban; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia; Douine, Emilie; Earl, Dawn; Eckstein, David; Emrick, Lisa; Eng, Christine; Falk, Marni; Fieg, Elizabeth; Fisher, Paul; Fogel, Brent; Forghani, Irman; Fu, Jiayu; Gahl, William; Glass, Ian; Goddard, Page; Godfrey, Rena; Grajewski, Alana; Gropman, Andrea; Halley, Meghan; Hamid, Rizwan; Hanchard, Neal; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki; Holm, Ingrid; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yan; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jarvik, Gail; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Kaitryn, Emerald; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa; Kohane, Isaac; Kohler, Jennefer; Korrick, Susan; Krakow, Deborah; Krasnewich, Donna; Kravets, Elijah; Lalani, Seema; Lam, Byron; Lam, Christina; Lanpher, Brendan; Lanza, Ian; Leblanc, Kimberly; Lee, Brendan; Levitt, Roy; Lewis, Richard; Liu, Pengfei; Liu, Xue; Longo, Nicola; Loo, Sandra; Loscalzo, Joseph; Maas, Richard; Macnamara, Ellen; Macrae, Calum; Maduro, Valerie; Maghiro, Audreystephannie; Mahoney, Rachel; Malicdan, May; Mamounas, Laura; Manolio, Teri; Mao, Rong; Marom, Ronit; Marth, Gabor; Martin, Beth; Martin, Martin; Martínez-Agosto, Julian; Marwaha, Shruti; Mccauley, Jacob; Mcconkie-Rosell, Allyn; Mccray, Alexa; Mcgee, Elisabeth; Might, Matthew; Miller, Danny; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Morimoto, Marie; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James; Pace, Laura; Pak, Stephen; Pallais, J; Papp, Jeanette; Parker, Neil; Petcharet, Leoyklang; Posey, Jennifer; Potocki, Lorraine; Swerdzewski, Barbara; Quinlan, Aaron; Rao, Deepak; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe; Rives, Lynette; Robertson, Amy; Rodan, Lance; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Sacco, Ralph; Sampson, Jacinda; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl; Seto, Elaine; Sharma, Prashant; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin; Sinsheimer, Janet; Sisco, Kathy; Smith, Edward; Smith, Kevin; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca; Stergachis, Andrew; Stoler, Joan; Sullivan, Kathleen; Sullivan, Jennifer; Sutton, Shirley; Sweetser, David; Sybert, Virginia; Tabor, Holly; Tan, Null; Tan, Amelia; Tarakad, Arjun; Taylor, Herman; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia; Toro, Camilo; Tran, Alyssa; Ungar, Rachel; Urv, Tiina; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie; Wahl, Colleen; Walker, Melissa; Walley, Nicole; Wambach, Jennifer; Wan, Jijun; Wang, Lee-Kai; Wangler, Michael; Ward, Patricia; Wegner, Daniel; Weisz Hubshman, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew; Whitlock, Jordan; Wolfe, Lynne; Worley, Kim; Yamamoto, Shinya; Zhang, Zhe; Zuchner, Stephan

Am J Hum Genet

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

Academic Journal

Maimuna S. Paul; Sydney L. Michener; Hongling Pan; Hiuling Chan; Jessica M. Pfliger; Jill A. Rosenfeld; Vanesa C. Lerma; Alyssa Tran; Megan A. Longley; Richard A. Lewis; Monika Weisz-Hubshman; Mir Reza Bekheirnia; Nasim Bekheirnia; Lauren Massingham; Michael Zech; Matias Wagner; Hartmut Engels; Kirsten Cremer; Elisabeth Mangold; Sophia Peters; Jessica Trautmann; Claudia Perne; Jessica L. Mester; Maria J. Guillen Sacoto; Richard Person; Pamela P. McDonnell; Stacey R. Cohen; Laina Lusk; Ana S.A. Cohen; Jean-Baptiste Le Pichon; Tomi Pastinen; Dihong Zhou; Kendra Engleman; Caroline Racine; Laurence Faivre; Sébastien Moutton; Anne-Sophie Denommé-Pichon; Hyun Yong Koh; Annapurna Poduri; Jeffrey Bolton; Cordula Knopp; Dong Sun Julia Suh; Andrea Maier; Mehran Beiraghi Toosi; Ehsan Ghayoor Karimiani; Reza Maroofian; Gerald Bradley Schaefer; Vijayalakshmi Ramakumaran; Pradeep Vasudevan; Benito Banos-Pinero; Alistair T. Pagnamenta; Chitra Prasad; Matthew Osmond; Sarah Schuhmann; Georgia Vasileiou; Sophie Russ-Hall; Ingrid E. Scheffer; Gemma L. Carvill; Heather Mefford; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley; Sihoun Hahn; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Mary Kozuira; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Audrey Stephannie Maghiro; Rachel Mahoney; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo Moretti; John Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips III; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey Swerdzewski; Aaron Quinlan; Deepak A. Rao; Anna Raper; Wendy Raskind; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; C. Ron Scott; Elaine Seto; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Kathleen Sullivan; Jennifer A. Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Queenie K.-G. Tan; Amelia L.M. Tan; Arjun Tarakad; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Rachel A. Ungar; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz Hubshman; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Zhe Zhang; Stephan Zuchner

Am. J. Hum. Genet. 111, 96-118 (2024)

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Macrocephaly and developmental delay caused by missense variants in RAB5C

Academic Journal

Klaas Koop; Weimin Yuan; Federico Tessadori; Wilmer R Rodriguez-Polanco; Jeremy Grubbs; Bo Zhang; Matt Osmond; Gail Graham; Sarah Sawyer; Erin Conboy; Francesco Vetrini; Kayla Treat; Rafal Płoski; Victor Murcia Pienkowski; Anna Kłosowska; Elizabeth Fieg; Joel Krier; Coralie Mallebranche; Ziegler Alban; Kimberly A Aldinger; Deborah Ritter; Ellen Macnamara; Bonnie Sullivan; John Herriges; Joseph T Alaimo; Catherine Helbig; Colin A Ellis; Clare van Eyk; Jozef Gecz; Daniel Farrugia; Ikeoluwa Osei-Owusu; Lesley Adès; Marie-Jose van den Boogaard; Sabine Fuchs; Jeroen Bakker; Karen Duran; Zachary D Dawson; Anika Lindsey; Huiyan Huang; Dustin Baldridge; Gary A Silverman; Barth D Grant; David Raizen; Maria T Acosta; Margaret Adam; David R Adams; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A Ashley; Mahshid S Azamian; Carlos A Bacino; Guney Bademci; Ashok Balasubramanyam; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H Beggs; Edward Behrens; Gill Bejerano; Hugo Bellen; Jimmy Bennet; Beverly Berg-Rood; Jonathan A Bernstein; Gerard T Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A Burke; Lindsay C Burrage; Manish J Butte; Peter Byers; William E Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D Clark; Terra R Coakley; Laurel A Cobban; Joy D Cogan; Matthew Coggins; F Sessions Cole; Heather A Colley; Cynthia M Cooper; Heidi Cope; William J Craigen; Andrew B Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G Dayal; Matthew Deardorff; Esteban C Dell’Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L Doss; Emilie D Douine; Laura Duncan; Dawn Earl; David J Eckstein; Lisa T Emrick; Christine M Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Elizabeth L Fieg; Laurie C Findley; Paul G Fisher; Brent L Fogel; Irman Forghani; William A Gahl; Ian Glass; Bernadette Gochuico; Rena A Godfrey; Katie Golden-Grant; Madison P Goldrich; Alana Grajewski; Irma Gutierrez; Don Hadley; Sihoun Hahn; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M Hisama; Ingrid A Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yong Huang; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Jennifer Kennedy; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N Kobren; Isaac S Kohane; Jennefer N Kohler; Deborah Krakow; Donna M Krasnewich; Elijah Kravets; Susan Korrick; Mary Koziura; Seema R Lalani; Byron Lam; Christina Lam; Grace L LaMoure; Brendan C Lanpher; Ian R Lanza; Kimberly LeBlanc; Brendan H Lee; Hane Lee; Roy Levitt; Richard A Lewis; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K Loo; Joseph Loscalzo; Richard L Maas; Ellen F Macnamara; Calum A MacRae; Valerie V Maduro; Rachel Mahoney; Bryan C Mak; May Christine V Malicdan; Laura A Mamounas; Teri A Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A Martin; Martin G Martin; Julian A Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T McCray; Elisabeth McGee; Heather Mefford; J Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo M Moretti; John J Mulvihill; Mariko Nakano-Okuno; Stan F Nelson; John H Newman; Sarah K Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P Orengo; Laura Pace; Stephen C Pak; J Carl Pallais; Christina G S Palmer; Jeanette C Papp; Neil H Parker; John A Phillips III; Jennifer E Posey; Lorraine Potocki; Barbara N Pusey; Aaron Quinlan; Wendy Raskind; Archana N Raja; Deepak A Rao; Anna Raper; Genecee Renteria; Chloe M Reuter; Lynette Rives; Amy K Robertson; Lance H Rodan; Jill A Rosenfeld; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B Sampson; Mario Saporta; C Ron Scott; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A Scott; Vandana Shashi; Jimann Shin; Rebecca Signer; Edwin K Silverman; Janet S Sinsheimer; Kathy Sisco; Edward C Smith; Kevin S Smith; Emily Solem; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C Spillmann; Joan M Stoler; Jennifer A Sullivan; Kathleen Sullivan; Angela Sun; Shirley Sutton; David A Sweetser; Virginia Sybert; Holly K Tabor; Amelia L M Tan; Queenie K-G Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J Tifft; Camilo Toro; Alyssa A Tran; Brianna M Tucker; Tiina K Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P Vogel; Colleen E Wahl; Stephanie Wallace; Nicole M Walley; Melissa Walker; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F Wangler; Patricia A Ward; Daniel Wegner; Monika Weisz-Hubshman; Mark Wener; Tara Wenger; Katherine Wesseling Perry; Monte Westerfield; Matthew T Wheeler; Jordan Whitlock; Lynne A Wolfe; Jeremy D Woods; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Diane B Zastrow; Zhe Zhang; Chunli Zhao; Stephan Zuchner; Gijs van Haaften; Holger Rehmann; Tim Schedl; Peter van Hasselt

Hum Mol Genet

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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Academic Journal

Eva Niggl; Arjan Bouman; Lauren C. Briere; Remco M. Hoogenboezem; Ilse Wallaard; Joohyun Park; Jakob Admard; Martina Wilke; Emilio D.R.O. Harris-Mostert; Minetta Elgersma; Jennifer Bain; Meena Balasubramanian; Siddharth Banka; Paul J. Benke; Miriam Bertrand; Alyssa E. Blesson; Jill Clayton-Smith; Jamie M. Ellingford; Madelyn A. Gillentine; Dana H. Goodloe; Tobias B. Haack; Mahim Jain; Ian Krantz; Sharon M. Luu; Molly McPheron; Candace L. Muss; Sarah E. Raible; Nathaniel H. Robin; Michael Spiller; Susan Starling; David A. Sweetser; Isabelle Thiffault; Francesco Vetrini; Dennis Witt; Emily Woods; Dihong Zhou; J.C. Ambrose; P. Arumugam; R. Bevers; M. Bleda; F. Boardman-Pretty; C.R. Boustred; H. Brittain; M.A. Brown; M.J. Caulfield; G.C. Chan; A. Giess; J.N. Griffin; A. Hamblin; S. Henderson; T.J.P. Hubbard; R. Jackson; L.J. Jones; D. Kasperaviciute; M. Kayikci; A. Kousathanas; L. Lahnstein; A. Lakey; S.E.A. Leigh; I.U.S. Leong; F.J. Lopez; F. Maleady-Crowe; M. McEntagart; F. Minneci; J. Mitchell; L. Moutsianas; M. Mueller; N. Murugaesu; A.C. Need; P. O‘Donovan; C.A. Odhams; C. Patch; D. Perez-Gil; M.B. Pereira; J. Pullinger; T. Rahim; A. Rendon; T. Rogers; K. Savage; K. Sawant; R.H. Scott; A. Siddiq; A. Sieghart; S.C. Smith; A. Sosinsky; A. Stuckey; M. Tanguy; A.L. Taylor Tavares; E.R.A. Thomas; S.R. Thompson; A. Tucci; M.J. Welland; E. Williams; K. Witkowska; S.M. Wood; M. Zarowiecki; Maria T. Acosta; David R. Adams; Raquel L. Alvarez; Justin Alvey; Aimee Allworth; Ashley Andrews; Euan A. Ashley; Ben Afzali; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennet; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Margaret Delgado; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Jiayu Fu; William A. Gahl; Ian Glass; Page C. Goddard; Rena A. Godfrey; Alana Grajewski; Meghan C. Halley; Rizwan Hamid; Neal Hanchard; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yan Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Emerald Kaitryn; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Richard A. Lewis; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; AudreyStephannie Maghiro; Rachel Mahoney; May Christine Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; Matthew Might; Danny Miller; Ghayda Mirzaa; Eva Morava; Paolo Moretti; Marie Morimoto; John J. Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Jeanette C. Papp; Neil H. Parker; Leoyklang Petcharet; John A. Phillips; Jennifer E. Posey; Lorraine Potocki; Barbara N. Swerdzewski; Aaron Quinlan; Deepak A. Rao; Anna Raper; Wendy Raskind; Genecee Renteria; Chloe Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Elizabeth Rosenthal; Francis Rossignol; Maura Ruzhnikov; Marla Sabaii; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; Elaine Seto; Prashant Sharma; Vandana Shashi; Emily Shelkowitz; Sam Sheppeard; Jimann Shin; Edwin Silverman; Janet Sinsheimer; Kathy Sisco; Edward Smith; Kevin Smith; Lilianna Solnica-Krezel; Ben Solomon; Rebecca Spillmann; Andrew Stergachis; Joan Stoler; Kathleen Sullivan; Jennifer Sullivan; Shirley Sutton; Virginia Sybert; Holly K. Tabor; Queenie K.-G. Tan; Amelia L. Tan; Arjun Tarakad; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia Tifft; Camilo Toro; Alyssa A. Tran; Rachel A. Ungar; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Shinya Yamamoto; Zhe Zhang; Stephan Zuchner; Ype Elgersma; Annelot C.M. van Esbroeck

Genomics England Research Consortium, Undiagnosed Diseases Network, Niggl, E, Bouman, A, Briere, L C, Hoogenboezem, R M, Wallaard, I, Park, J, Admard, J, Wilke, M, Harris-Mostert, E D R O, Elgersma, M, Balasubramanian, M, Banka, S, Benke, P J, Bertrand, M, Blesson, A E, Clayton-Smith, J, Ellingford, J M, Gillentine, M A, Goodloe, D H, Haack, T B, Jain, M, Krantz, I, Luu, S M, McPheron, M, Muss, C L, Raible, S E, Robin, N H, Sweetser, D A, Thiffault, I, Vetrini, F, Witt, D, Woods, E, Zhou, D, Elgersma, Y & van Esbroeck, A C M 2023, 'HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder', American Journal of Human Genetics, vol. 110, no. 8, pp. 1414-1435. https://doi.org/10.1016/j.ajhg.2023.07.005

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De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Academic Journal

Manuela Morleo; Rossella Venditti; Evangelos Theodorou; Lauren C. Briere; Marion Rosello; Alfonsina Tirozzi; Roberta Tammaro; Nour Al-Badri; Frances A. High; Jiahai Shi; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley; Sihoun Hahn; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Mary Kozuira; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Richard A. Lewis; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; AudreyStephannie Maghiro; Rachel Mahoney; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; Heather Mefford; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo Moretti; John Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips III; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey Swerdzewski; Aaron Quinlan; Deepak A. Rao; Anna Raper; Wendy Raskind; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; C. Ron Scott; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Kathleen Sullivan; Jennifer A. Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Queenie K.-G. Tan; Amelia L.M. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Rachel A. Ungar; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz Hubshman; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Zhe Zhang; Stephan Zuchner; Vincenzo Nigro; Annalaura Torella; Carmine Spampanato; Michele Pinelli; Sandro Banfi; Alessandra Varavallo; Angelo Selicorni; Milena Mariani; Marta Massimello; Cecilia Daolio; Valeria Capra; Andrea Accogli; Marcello Scala; Vincenzo Leuzzi; Francesca Nardecchia; Serena Galosi; Mario Mastrangelo; Donatella Milani; Giuseppina Vitiello; Giulio Piluso; Corrado Romano; Pinella Failla; Donatella Greco; Chiara Pantaleoni; Claudia Ciaccio; Stefano D’Arrigo; Nicola Brunetti Pierri; Giancarlo Parenti; Antonietta Coppola; Teresa Mattina; Marcella Zollino; Simona Amenta; Albina Tummolo; Claudia Santoro; Anna Grandone; Daniele De Brasi; Antonio Varone; Livia Garavelli; Carla Marini; Stefania Bigoni; Carmelo Piscopo; Antonio Trabacca; Marta De Rinaldis; Angela Peron; Elena Putti; Luigi Ferrante; Viviana Cetrangolo; Melissa A. Walker; Romano Tenconi; Maria Iascone; Davide Mei; Renzo Guerrini; Jasper van der Smagt; Hester Y. Kroes; Koen L.I. van Gassen; Muhammad Bilal; Muhammad Umair; Veronica Pingault; Tania Attie-Bitach; Jeannine Amiel; Resham Ejaz; Lance Rodan; Pankaj B. Agrawal; Filippo Del Bene; Brunella Franco

American Journal of Human Genetics

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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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Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay

Academic Journal

Mohajeri, Arezoo; Vaseghi-Shanjani, Maryam; Rosenfeld, Jill A.; Yang, Gui Xiang; Lu, Henry; Sharma, Mehul; Lin, Susan; Salman, Areesha; Waqas, Meriam; Sababi Azamian, Mahshid; Worley, Kim C.; del Bel, Kate L.; Kozak, Frederick K.; Rahmanian, Ronak; Biggs, Catherine M.; Hildebrand, Kyla J.; Lalani, Seema R.; Nicholas, Sarah K.; Scott, Daryl A.; Mostafavi, Sara; van Karnebeek, Clara; Henkelman, Erika; Halparin, Jessica; Yang, Connie L.; Armstrong, Linlea; Turvey, Stuart E.; Lehman, Anna; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Sessions Cole, F.; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Kennedy, Jennifer; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K. -G.; Tan, Amelia L. M.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-Kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Boycott, Kym; Brudno, Michael; Bernier, Francois; Dyment, David; Kernohan, Kristin; Innes, Micheil; Lamont, Ryan; Parboosingh, Jillian; Marshall, Deborah; Marshall, Christian; Mendoza, Roberto; Dowling, James; Hayeems, Robin; Knoppers, Bartha

Journal of Medical Genetics. 60:1092-1104

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Bi-allelic variants in INTS11 are associated with a complex neurological disorder

Academic Journal

Burak Tepe; Erica L. Macke; Marcello Niceta; Monika Weisz Hubshman; Oguz Kanca; Laura Schultz-Rogers; Yuri A. Zarate; G. Bradley Schaefer; Jorge Luis Granadillo De Luque; Daniel J. Wegner; Benjamin Cogne; Brigitte Gilbert-Dussardier; Xavier Le Guillou; Eric J. Wagner; Lynn S. Pais; Jennifer E. Neil; Ganeshwaran H. Mochida; Christopher A. Walsh; Nurit Magal; Valerie Drasinover; Mordechai Shohat; Tanya Schwab; Chris Schmitz; Karl Clark; Anthony Fine; Brendan Lanpher; Ralitza Gavrilova; Pierre Blanc; Lydie Burglen; Alexandra Afenjar; Dora Steel; Manju A. Kurian; Prab Prabhakar; Sophie Gößwein; Nataliya Di Donato; Enrico S. Bertini; Maria T. Acosta; Margaret Adam; David R. Adams; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Rena A. Godfrey; Katie Golden-Grant; Madison P. Goldrich; Alana Grajewski; Irma Gutierrez; Don Hadley; Sihoun Hahn; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yong Huang; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Jennifer Kennedy; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Susan Korrick; Mary Koziura; Seema R. Lalani; Byron Lam; Christina Lam; Grace L. LaMoure; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Richard A. Lewis; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Rachel Mahoney; Bryan C. Mak; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; Heather Mefford; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo M. Moretti; Mariko Nakano-Okuno; Stan F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina GS. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey; Aaron Quinlan; Wendy Raskind; Archana N. Raja; Deepak A. Rao; Anna Raper; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; C. Ron Scott; Daryl A. Scott; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Emily Solem; Lilianna Solnica- Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Jennifer A. Sullivan; Kathleen Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Amelia L.M. Tan; Queenie K.- G. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Brianna M. Tucker; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz-Hubshman; Mark Wener; Tara Wenger; Katherine Wesseling Perry; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Diane B. Zastrow; Zhe Zhang; Chunli Zhao; Stephan Zuchner; Marco Tartaglia; Eric W. Klee

The American Journal of Human Genetics. 110:774-789

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

Academic Journal

Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Sessions Cole, F.; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dickson, Patricia; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John J.; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Carl Pallais, J.; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Seto, Elaine; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Halley, Meghan C. ; Young, Jennifer L. ; Tang, Charis ; Mintz, Kevin T. ; Lucas-Griffin, Sawyer ; Maghiro, AudreyStephannie ; Ashley, Euan A. ; Tabor, Holly K.

In The Journal of Pediatrics October 2023 261

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Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Academic Journal

Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dickson, Patricia; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, Audrey Stephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Seto, Elaine; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Ganetzky, Rebecca ; Kranz, Peter G. ; Sondheimer, Neal ; Markert, M. Louise ; Sadeghpour, Azita ; Roehrs, Philip ; Arbogast, Thomas ; Muraresku, Colleen ; Tyndall, Amanda V. ; Esser, Michael J. ; Woodward, Kristine E. ; Ping-Yee Au, Billie ; Parboosingh, Jillian S. ; Lamont, Ryan E. ; Bernier, Francois P. ; Wright, Nicola A.M. ; Benseler, Susa M. ; Parsons, Simon J. ; El-Dairi, Mays ; Valdez, Purnima ; Tennison, Michael ; Innes, A. Micheil ; Davis, Erica E.

In Genetics in Medicine September 2023 25(9)

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De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Academic Journal

Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Kennedy, Jennifer; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Andrews, Jonathan C. ; Mok, Jung-Wan ; Kanca, Oguz ; Jangam, Sharayu ; Tifft, Cynthia ; Russell, Bianca E.

In Genetics in Medicine June 2023 25(6)

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A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Academic Journal

Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; 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.; Bennet, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Deardorff, Matthew; Dell’Angelica, Esteban C.; 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.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldrich, Madison P.; Grajewski, Alana; Gutierrez, Irma; 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; Huang, Yong; 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.; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Korrick, Susan; Koziura, Mary; Lalani, Seema R.; Lam, Byron; Lam, Christina; LaMoure, Grace L.; 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; Mak, Bryan C.; 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 M.; Nakano-Okuno, Mariko; Nelson, Stan F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey, Barbara N.; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N.; Rao, Deepak A.; Raper, Anna; 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, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L.M.; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; 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.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Weisz-Hubshman, Monika; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zastrow, Diane B.; Zhang, Zhe; Zhao, Chunli; Zuchner, Stephan; Reuter, Chloe ; Kohler, Jennefer ; Zastrow, Diane ; Alkelai, Anna ; Baugh, Evan ; Cope, Heidi

In Genetics in Medicine April 2023 25(4)

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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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Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

Academic Journal

Matthew N Bainbridge; Aloran Mazumder; Daisuke Ogasawara; Rami Abou Jamra; Geneviève Bernard; Enrico Bertini; Lydie Burglen; Heidi Cope; Ali Crawford; Alexa Derksen; Leon Dure; Emily Gantz; Margarete Koch-Hogrebe; Anna C E Hurst; Sonal Mahida; Paige Marshall; Alessia Micalizzi; Antonio Novelli; Hongfan Peng; Diana Rodriguez; Shira L Robbins; S Lane Rutledge; Roberta Scalise; Sophia Schließke; Vandana Shashi; Siddharth Srivastava; Isabella Thiffault; Sarah Topol; Maria T Acosta; Margaret Adam; David R Adams; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A Ashley; Mahshid S Azamian; Carlos A Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A Bernstein; Gerard T Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A Burke; Lindsay C Burrage; Manish J Butte; Peter Byers; William E Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D Clark; Terra R Coakley; Laurel A Cobban; Joy D Cogan; Matthew Coggins; F Sessions Cole; Heather A Colley; Cynthia M Cooper; William J Craigen; Andrew B Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G Dayal; Matthew Deardorff; Esteban C Dell’Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L Doss; Emilie D Douine; Laura Duncan; Dawn Earl; David J Eckstein; Lisa T Emrick; Christine M Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Elizabeth L Fieg; Paul G Fisher; Brent L Fogel; Irman Forghani; William A Gahl; Ian Glass; Bernadette Gochuico; Rena A Godfrey; Katie Golden-Grant; Madison P Goldrich; Alana Grajewski; Irma Gutierrez; Don Hadley; Sihoun Hahn; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M Hisama; Ingrid A Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yong Huang; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Jennifer Kennedy; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N Kobren; Isaac S Kohane; Jennefer N Kohler; Deborah Krakow; Donna M Krasnewich; Elijah Kravets; Susan Korrick; Mary Koziura; Seema R Lalani; Byron Lam; Christina Lam; Grace L LaMoure; Brendan C Lanpher; Ian R Lanza; Kimberly LeBlanc; Brendan H Lee; Roy Levitt; Richard A Lewis; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K Loo; Joseph Loscalzo; Richard L Maas; Ellen F Macnamara; Calum A MacRae; Valerie V Maduro; Bryan C Mak; May Christine V Malicdan; Laura A Mamounas; Teri A Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A Martin; Martin G Martin; Julian A Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T McCray; Elisabeth McGee; Heather Mefford; J Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo M Moretti; Mariko Nakano-Okuno; Stan F Nelson; John H Newman; Sarah K Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P Orengo; Laura Pace; Stephen Pak; J Carl Pallais; Christina G S Palmer; Jeanette C Papp; Neil H Parker; John A Phillips III; Jennifer E Posey; Lorraine Potocki; Barbara N Pusey; Aaron Quinlan; Wendy Raskind; Archana N Raja; Deepak A Rao; Anna Raper; Genecee Renteria; Chloe M Reuter; Lynette Rives; Amy K Robertson; Lance H Rodan; Jill A Rosenfeld; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B Sampson; Mario Saporta; C Ron Scott; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A Scott; Jimann Shin; Edwin K Silverman; Janet S Sinsheimer; Kathy Sisco; Edward C Smith; Kevin S Smith; Emily Solem; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C Spillmann; Joan M Stoler; Jennifer A Sullivan; Kathleen Sullivan; Angela Sun; Shirley Sutton; David A Sweetser; Virginia Sybert; Holly K Tabor; Amelia L M Tan; Queenie K-G Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J Tifft; Camilo Toro; Alyssa A Tran; Brianna M Tucker; Tiina K Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P Vogel; Colleen E Wahl; Stephanie Wallace; Nicole M Walley; Melissa Walker; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F Wangler; Patricia A Ward; Daniel Wegner; Monika Weisz-Hubshman; Mark Wener; Tara Wenger; Katherine Wesseling Perry; Monte Westerfield; Matthew T Wheeler; Jordan Whitlock; Lynne A Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Diane B Zastrow; Zhe Zhang; Chunli Zhao; Stephan Zuchner; Hugo Bellen; Rachel Mahoney; Leila Qebibo; Dagmar Wieczorek; Benjamin Cravatt; Svasti Haricharan; Ali Torkamani; Jennifer Friedman

Brain

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Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

Academic Journal

Debdeep Dutta; Oguz Kanca; Rishi V. Shridharan; Paul C. Marcogliese; Benjamin Steger; Marie Morimoto; F. Graeme Frost; Ellen Macnamara; Michael F. Wangler; Shinya Yamamoto; Andreas Jenny; David Adams; May C. Malicdan; Hugo J. Bellen; Mercedes E. Alejandro; Mahshid S. Azamian; Carlos A. Bacino; Ashok Balasubramanyam; Lindsay C. Burrage; Hsiao-Tuan Chao; Gary D. Clark; William J. Craigen; Hongzheng Dai; Fariha Jamal; Lefkothea Karaviti; Shamika Ketkar; Brendan H. Lee; Richard A. Lewis; Ronit Marom; Paolo M. Moretti; Sarah K. Nicholas; James P. Orengo; Jennifer E. Posey; Lorraine Potocki; Daryl A. Scott; Alyssa A. Tran; Tiphanie P. Vogel; Monika Weisz Hubshman; Kim Worley; Christine M. Eng; Pengfei Liu; Patricia A. Ward; Edward Behrens; Kosuke Izumi; Marni Falk; Kelly Hassey; Kathleen Sullivan; Anna Raper; Gonench Kilich; Zhe Zhang; Adeline Vanderver; David B. Goldstein; Heidi Cope; Allyn McConkie-Rosell; Kelly Schoch; Vandana Shashi; Edward C. Smith; Rebecca C. Spillmann; Jennifer A. Sullivan; Queenie K.-G. Tan; Nicole M. Walley; Pankaj B. Agrawal; H. Alan; Gerard T. Berry; Lauren C. Briere; Laurel A. Cobban; Matthew Coggins; Cynthia M. Cooper; Elizabeth L. Fieg; Frances High; Ingrid A. Holm; Susan Korrick; Joel B. Krier; Sharyn A. Lincoln; Joseph Loscalzo; Richard L. Maas; Calum A. MacRae; J. Carl Pallais; Deepak A. Rao; Lance H. Rodan; Edwin K. Silverman; Joan M. Stoler; David A. Sweetser; Melissa Walker; Chris A. Walsh; Cecilia Esteves; Isaac S. Kohane; Kimberly LeBlanc; Alexa T. McCray; Shilpa N. Kobren; Amelia L. M. Tan; Rachel Mahoney; Surendra Dasari; Brendan C. Lanpher; Ian R. Lanza; Eva Morava; Devin Oglesbee; Guney Bademci; Deborah Barbouth; Stephanie Bivona; Olveen Carrasquillo; Ta Chen Pete Chang; Irman Forghani; Alana Grajewski; Rosario Isasi; Byron Lam; Roy Levitt; Xue Zhong Liu; Jacob McCauley; Ralph Sacco; Mario Saporta; Judy Schaechter; Mustafa Tekin; Fred Telischi; Willa Thorson; Stephan Zuchner; Heather A. Colley; Jyoti G. Dayal; David J. Eckstein; Laurie C. Findley; Donna M. Krasnewich; Laura A. Mamounas; Teri A. Manolio; John J. Mulvihill; Grace L. LaMoure; Madison P. Goldrich; Tiina K. Urv; Argenia L. Doss; Maria T. Acosta; Carsten Bonnenmann; Precilla D'Souza; David D. Draper; Carlos Ferreira; Rena A. Godfreyv; Catherine A. Groden; Ellen F. Macnamara; Valerie V. Maduro; Thomas C. Markello; Avi Nath; Donna Novacic; Barbara N. Pusey; Camilo Toro; Colleen E. Wahl; Eva Baker; Elizabeth A. Burke; David R. Adams; William A. Gahl; May Christine V. Malicdan; Cynthia J. Tifft; Lynne A. Wolfe; John Yang; Bradley Power; Bernadette Gochuico; Laryssa Huryn; Lea Latham; Joie Davis; Deborah Mosbrook-Davis; Francis Rossignol; Ben Solomon; John MacDowall; Audrey Thurm; Wadih Zein; Muhammad Yousef; Margaret Adam; Laura Amendola; Michael Bamshad; Anita Beck; Jimmy Bennett; Beverly Berg-Rood; Elizabeth Blue; Brenna Boyd; Peter Byers; Sirisak Chanprasert; Michae Cunningham; Katrina Dipple; Daniel Doherty; Dawn Earl; Ian Glass; Katie Golden-Grant; Sihoun Hahn; Anne Hing; Fuki M. Hisama; Martha Horike-Pyne; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Christina Lam; Kenneth Maravilla; Heather Mefford; J. Lawrence Merritt; Ghayda Mirzaa; Deborah Nickerson; Wendy Raskind; Natalie Rosenwasser; C. RonScott; Angela Sun; Virginia Sybert; Stephanie Wallace; Mark Wener; Tara Wenger; Euan A. Ashley; Gill Bejerano; Jonathan A. Bernstein; Devon Bonner; Terra R. Coakley; Liliana Fernandez; Paul G. Fisher; Jason Hom; Yong Huang; Jennefer N. Kohler; Elijah Kravets; Beth A. Martin; Shruti Marwaha; Archana N. Raja; Chloe M. Reuter; Maura Ruzhnikov; Jacinda B. Sampson; Kevin S. Smith; Shirley Sutton; Holly K. Tabor; Brianna M. Tucker; Matthew T. Wheeler; Diane B. Zastrow; Chunli Zhao; William E. Byrd; Andrew B. Crouse; Matthew Might; Mariko Nakano-Okuno; Jordan Whitlock; Gabrielle Brown; Manish J. Butte; Esteban C. Dell'Angelica; Naghmeh Dorrani; Emilie D. Douine; Brent L. Fogel; Irma Gutierrez; Alden Huang; Deborah Krakow; Hane Lee; Sandra K. Loo; Bryan C. Mak; Martin G. Martin; Julian A. Martínez-Agosto; Elisabeth McGee; Stanley F. Nelson; Shirley Nieves-Rodriguez; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; Genecee Renteria; Rebecca H. Signer; Janet S. Sinsheimer; Jijun Wan; Lee-kai Wang; Katherine Wesseling Perry; Jeremy D. Woods; Justin Alvey; Ashley Andrews; Jim Bale; John Bohnsack; Lorenzo Botto; John Carey; Laura Pace; Nicola Longo; Gabor Marth; Paolo Moretti; Aaron Quinlan; Matt Velinder; Dave Viskochil; Pinar Bayrak-Toydemir; Rong Mao; Monte Westerfield; Anna Bican; Elly Brokamp; Laura Duncan; Rizwan Hamid; Jennifer Kennedy; Mary Kozuira; John H. Newman; John A. Phillips; Lynette Rives; Amy K. Robertson; Emily Solem; Joy D. Cogan; F. Sessions Cole; Nichole Hayes; Dana Kiley; Kathy Sisco; Jennifer Wambach; Daniel Wegner; Dustin Baldridge; Stephen Pak; Timothy Schedl; Jimann Shin; Lilianna Solnica-Krezel

Proc Natl Acad Sci U S A

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

Academic Journal

Jinfeng Lu; Camilo Toro; David R. Adams; Maria T. Acosta; Margaret Adam; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell’Angelica; Patricia Dickson; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley; Sihoun Hahn; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Mary Kozuira; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Richard A. Lewis; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; AudreyStephannie Maghiro; Rachel Mahoney; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; Heather Mefford; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo Moretti; John Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G. S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey Swerdzewski; Aaron Quinlan; Deepak A. Rao; Anna Raper; Wendy Raskind; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; C. Ron Scott; Elaine Seto; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Kathleen Sullivan; Jennifer A. Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Queenie K.-G. Tan; Amelia L. M. Tan; Arjun Tarakad; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Alyssa A. Tran; Rachel A. Ungar; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz Hubshman; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Zhe Zhang; Stephan Zuchner; Cristiane Araujo Martins Moreno; Wan-Ping Lee; Yuk Yee Leung; Mathew B. Harms; Badri Vardarajan; Erin L. Heinzen

BMC Genomics
BMC Genomics, Vol 25, Iss 1, Pp 1-22 (2024)

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