학술논문
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'학술논문'
에서 검색결과 174건 | 목록
1~20
Academic Journal
Singer-Berk, Moriel; Gudmundsson, Sanna; Baxter, Samantha; Seaby, Eleanor G.; England, Eleina; Wood, Jordan C.; Son, Rachel G.; Watts, Nicholas A.; Karczewski, Konrad J.; Harrison, Steven M.; MacArthur, Daniel G.; Rehm, Heidi L.; O'Donnell-Luria, Anne
American Journal of Human Genetics. 110(9):1496-1508
Academic Journal
Sanna Gudmundsson; Moriel Singer-Berk; Sarah L. Stenton; Julia K. Goodrich; Michael W. Wilson; Jonah Einson; Nicholas A. Watts; Maria Abreu; Amina Abubakar; Rolf Adolfsson; Carlos A. Aguilar Salinas; Tariq Ahmad; Christine M. Albert; Jessica Alföldi; Matthieu Allez; Celso Arango López; Diego Ardissino; Irina M. Armean; Elizabeth G. Atkinson; Gil Atzmon; Eric Banks; John Barnard; Samantha M. Baxter; Laurent Beaugerie; David Benjamin; Emelia J. Benjamin; Louis Bergelson; Charles Bernstein; Douglas Blackwood; Michael Boehnke; Lori L. Bonnycastle; Erwin P. Bottinger; Donald W. Bowden; Matthew J. Bown; Harrison Brand; Steven Brant; Ted Brookings; Sam Bryant; Shawneequa L. Callier; Hannia Campos; John C. Chambers; Juliana C. Chan; Katherine R. Chao; Sinéad Chapman; Daniel I. Chasman; Lea A. Chen; Siwei Chen; Rex Chisholm; Judy Cho; Rajiv Chowdhury; Mina K. Chung; Wendy K. Chung; Kristian Cibulskis; Bruce Cohen; Ryan L. Collins; Kristen M. Connolly; Adolfo Correa; Aiden Corvin; Miguel Covarrubias; Nick Craddock; Beryl B. Cummings; Dana Dabelea; Mark J. Daly; John Danesh; Dawood Darbar; Phil Darnowsky; Joshua C. Denny; Stacey Donnelly; Richard H. Duerr; Ravindranath Duggirala; Josée Dupuis; Patrick T. Ellinor; Roberto Elosua; James Emery; Eleina England; Jeanette Erdmann; Tõnu Esko; Emily Evangelista; Yossi Farjoun; Diane Fatkin; William Faubion; Steven Ferriera; Gemma Figtree; Kelly Flannagan; Jose Florez; Laurent Francioli; Andre Franke; Adam Frankish; Jack Fu; Martti Färkkilä; Stacey Gabriel; Kiran Garimella; Laura D. Gauthier; Jeff Gentry; Michel Georges; Gad Getz; David C. Glahn; Benjamin Glaser; Stephen J. Glatt; Fernando S. Goes; David Goldstein; Clicerio Gonzalez; Julia Goodrich; Riley H. Grant; Leif Groop; Namrata Gupta; Andrea Haessly; Christopher Haiman; Ira Hall; Craig L. Hanis; James Hanyok; Matthew Harms; Qin He; Mikko Hiltunen; Matti M. Holi; Christina M. Hultman; Steve Jahl; Chaim Jalas; Thibault Jeandet; Mikko Kallela; Diane Kaplan; Jaakko Kaprio; Konrad J. Karczewski; Elizabeth W. Karlson; Sekar Kathiresan; Eimear E. Kenny; Bong-Jo Kim; Young Jin Kim; Daniel King; George Kirov; Zan Koenig; Jaspal Kooner; Seppo Koskinen; Harlan M. Krumholz; Subra Kugathasan; Juozas Kupcinskas; Soo Heon Kwak; Markku Laakso; Nicole Lake; Mikael Landén; Trevyn Langsford; Kristen M. Laricchia; Terho Lehtimäki; Monkol Lek; James Lewis; Cecilia M. Lindgren; Emily Lipscomb; Christopher Llanwarne; Ruth J. F. Loos; Edouard Louis; Chelsea Lowther; Wenhan Lu; Steven A. Lubitz; Tom Lyons; Ronald C. W. Ma; Daniel G. MacArthur; Dara S. Manoach; Gregory M. Marcus; Jaume Marrugat; Nicholas Marston; Daniel M. Marten; Alicia R. Martin; Kari M. Mattila; Steven McCarroll; Mark I. McCarthy; Jacob L. McCauley; Dermot McGovern; Ruth McPherson; Andrew MacQuillin; James B. Meigs; Olle Melander; Andres Metspalu; Deborah Meyers; Eric V. Minikel; Braxton D. Mitchell; Paul Moayyedi; Sanghamitra Mohanty; Andrés Moreno Estrada; Nicola J. Mulder; Ruchi Munshi; Aliya Naheed; Andrea Natale; Saman Nazarian; Benjamin M. Neale; Charles Newton; Peter M. Nilsson; Sam Novod; Anne H. O’Donnell-Luria; Michael C. O’Donovan; Yukinori Okada; Dost Ongur; Roel Ophoff; Lorena Orozco; Willem Ouwehand; Michael J. Owen; Nick Owen; Colin Palmer; Nicholette D. Palmer; Aarno Palotie; Mara Parellada; Kyong Soo Park; Carlos Pato; Nancy L. Pedersen; Tina Pesaran; Nikelle Petrillo; William Phu; Sharon Plon; Danielle Posthuma; Timothy Poterba; Ann E. Pulver; Aaron Quinlan; Dan Rader; Nazneen Rahman; Heidi Rehm; Andreas Reif; Alex Reiner; Anne M. Remes; Dan Rhodes; Stephen Rich; John D. Rioux; Samuli Ripatti; David Roazen; Jason Roberts; Elise Robinson; Dan M. Roden; Jerome I. Rotter; Guy Rouleau; Valentin Ruano-Rubio; Christian T. Ruff; Heiko Runz; Marc S. Sabatine; Nareh Sahakian; Danish Saleheen; Veikko Salomaa; Andrea Saltzman; Nilesh J. Samani; Kaitlin E. Samocha; Alba Sanchis-Juan; Akira Sawa; Jeremiah Scharf; Molly Schleicher; Patrick Schultz; Heribert Schunkert; Sebastian Schönherr; Eleanor G. Seaby; Cotton Seed; Svati H. Shah; Megan Shand; Ted Sharpe; Moore B. Shoemaker; Tai Shyong; Edwin K. Silverman; Jurgita Skieceviciene; Pamela Sklar; J. Gustav Smith; Jonathan T. Smith; Jordan Smoller; Hilkka Soininen; Harry Sokol; Matthew Solomonson; Rachel G. Son; Jose Soto; Tim Spector; David St Clair; Christine Stevens; Nathan O. Stitziel; Patrick F. Sullivan; Jaana Suvisaari; E. Shyong Tai; Michael E. Talkowski; Yekaterina Tarasova; Kent D. Taylor; Yik Ying Teo; Grace Tiao; Kathleen Tibbetts; Charlotte Tolonen; Ming Tsuang; Tiinamaija Tuomi; Dan Turner; Teresa Tusie-Luna; Erkki Vartiainen; Marquis Vawter; Severine Vermeire; Elisabet Vilella; Christopher Vittal; Gordon Wade; Mark Walker; Arcturus Wang; Lily Wang; Qingbo Wang; James S. Ware; Hugh Watkins; Rinse K. Weersma; Ben Weisburd; Maija Wessman; Christopher Whelan; Nicola Whiffin; James G. Wilson; Lauren Witzgall; Ramnik J. Xavier; Mary T. Yohannes; Robert Yolken; Xuefang Zhao; Tuuli Lappalainen; Heidi L. Rehm; Anne O’Donnell-Luria
Nature Communications. 16
Academic Journal
Vijay S, Ganesh; Kevin, Riquin; Nicolas, Chatron; Esther, Yoon; Kay-Marie, Lamar; Miriam C, Aziz; Pauline, Monin; Melanie C, O'Leary; Julia K, Goodrich; Kiran V, Garimella; Eleina, England; Ben, Weisburd; François, Aguet; Carlos A, Bacino; David R, Murdock; Hongzheng, Dai; Jill A, Rosenfeld; Lisa T, Emrick; Shamika, Ketkar; Yael, Sarusi; Damien, Sanlaville; Saima, Kayani; Brian, Broadbent; Alisée, Pengam; Bertrand, Isidor; Stéphane, Bezieau; Benjamin, Cogné; Daniel G, MacArthur; Igor, Ulitsky; Gemma L, Carvill; Anne, O'Donnell-Luria
New England Journal of Medicine. 391:1511-1518
Academic Journal
Topf, Ana; Cox, Dan; Zaharieva, Irina; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealby, Ian; Smolnikov, Andrei; White, Richard; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen; Venturini, Cristina; Vroling, Bas; Stenton, Sarah; Cummings, Beryl; Harris, Elizabeth; Bettolo, Chiara Marini; Manera, Jordi Diaz; Barresi, Rita; Duff, Jennifer; England, Eleina; Patrick, Jane; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan; Macarthur, Daniel; Sarkozy, Anna; Cordell, Heather; Udd, Bjarne; Busch-Nentwich, Elisabeth; Muntoni, Francesco; Straub, Volker
Journal of the Neurological Sciences. 480
Academic Journal
Monica H. Wojcik; Gabrielle Lemire; Eva Berger; Maha S. Zaki; Mariel Wissmann; Wathone Win; Susan M. White; Ben Weisburd; Dagmar Wieczorek; Leigh B. Waddell; Jeffrey M. Verboon; Grace E. VanNoy; Ana Töpf; Tiong Yang Tan; Steffen Syrbe; Vincent Strehlow; Volker Straub; Sarah L. Stenton; Hana Snow; Moriel Singer-Berk; Josh Silver; Shirlee Shril; Eleanor G. Seaby; Ronen Schneider; Vijay G. Sankaran; Alba Sanchis-Juan; Kathryn A. Russell; Karit Reinson; Gianina Ravenscroft; Maximilian Radtke; Denny Popp; Tilman Polster; Konrad Platzer; Eric A. Pierce; Emily M. Place; Sander Pajusalu; Lynn Pais; Katrin Õunap; Ikeoluwa Osei-Owusu; Henry Opperman; Volkan Okur; Kaisa Teele Oja; Melanie O’Leary; Emily O’Heir; Chantal F. Morel; Andreas Merkenschlager; Rhett G. Marchant; Brian E. Mangilog; Jill A. Madden; Daniel MacArthur; Alysia Lovgren; Jordan P. Lerner-Ellis; Jasmine Lin; Nigel Laing; Friedhelm Hildebrandt; Julia Hentschel; Emily Groopman; Julia Goodrich; Joseph G. Gleeson; Roula Ghaoui; Casie A. Genetti; Janina Gburek-Augustat; Hanna T. Gazda; Vijay S. Ganesh; Mythily Ganapathi; Lyndon Gallacher; Jack M. Fu; Emily Evangelista; Eleina England; Sandra Donkervoort; Stephanie DiTroia; Sandra T. Cooper; Wendy K. Chung; John Christodoulou; Katherine R. Chao; Liam D. Cato; Kinga M. Bujakowska; Samantha J. Bryen; Harrison Brand; Carsten G. Bönnemann; Alan H. Beggs; Samantha M. Baxter; Tobias Bartolomaeus; Pankaj B. Agrawal; Michael Talkowski; Christina Austin-Tse; Rami Abou Jamra; Heidi L. Rehm; Anne O’Donnell-Luria
New England Journal of Medicine. 390:1985-1997
Academic Journal
Guillouet, Charlotte ; Agostini, Valeria ; Baujat, Geneviève ; Cocciadiferro, Dario ; Pippucci, Tommaso ; Lesieur-Sebellin, Marion ; Georget, Mathieu ; Schatz, Ulrich ; Fauth, Christine ; Louie, Raymond J. ; Rogers, Curtis ; Davis, Jessica M. ; Konstantopoulou, Vassiliki ; Mayr, Johannes A. ; Bouman, Arjan ; Wilke, Martina ; VanNoy, Grace E. ; England, Eleina M. ; Park, Kristen L. ; Brown, Kathleen ; Saenz, Margarita ; Novelli, Antonio ; Digilio, Maria Cristina ; Mastromoro, Gioia ; Rongioletti, Mauro Ciro Antonio ; Piacentini, Gerardo ; Kaiyrzhanov, Rauan ; Guliyeva, Sughra ; Hasanova, Lala ; Shears, Deborah ; Bhatnagar, Ishita ; Stals, Karen ; Klaas, Oliver ; Horvath, Judit ; Bouvagnet, Patrice ; Witmer, P. Dane ; MacCarrick, Gretchen ; Cisarova, Katarina ; Good, Jean-Marc ; Gorokhova, Svetlana ; Boute, Odile ; Smol, Thomas ; Bruel, Ange-Line ; Patat, Olivier ; Broadbent, Julia R. ; Tan, Tiong Y. ; Tan, Natalie B. ; Lyonnet, Stanislas ; Busa, Tiffany ; Graziano, Claudio ; Amiel, Jeanne ; Gordon, Christopher T.
In The American Journal of Human Genetics 3 April 2025 112(4):829-845
Academic Journal
Lee, Arthur S.; Ayers, Lauren J.; Kosicki, Michael; Chan, Wai-Man; Fozo, Lydia N.; Pratt, Brandon M.; Collins, Thomas E.; Zhao, Boxun; Rose, Matthew F.; Sanchis-Juan, Alba; Fu, Jack M.; Wong, Isaac; Zhao, Xuefang; Tenney, Alan P.; Lee, Cassia; Laricchia, Kristen M.; Barry, Brenda J.; Bradford, Victoria R.; Jurgens, Julie A.; England, Eleina M.; Lek, Monkol; MacArthur, Daniel G.; Lee, Eunjung Alice; Talkowski, Michael E.; Brand, Harrison; Pennacchio, Len A.; Engle, Elizabeth C.
Nature Communications. 15(1)
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum
Academic Journal
Lee, Eunhye; Sim, Seungmin; Choi, Hee-Jung; Liang, Eugene Y.; Le, Carolyn; Bina, Roya; Cohen, Ryan; George, Elizabeth; Kim, Soo Yeon; Bhat, Gifty; Falsey, Erin; Sidlow, Richard; Clinard, Kristin; Ben-Shachar, Shay; England, Eleina; Menendez, Beatriz; Herman, Isabella; Nielsen, Shelly; Punetha, Jaya; Bhola, Priya; Hamm, J. Austin; Keeney, Megan A.; Sitzman, Nike; Berger, Sara; Mehta, Lakshmi; Conn, Alison J.; Downie, Lilian; Ashfaq, Myla; Northrup, Hope; Bruel, Ange-Line; Odent, Sylvie; Szot, Justin O.; Martinez, Noelia Nunez; Park, Sunju; Refkin, Julie; Good, Jean-Marc; Maurer, Fabienne; Le Caignec, Cedric; Coman, David J.; Anderson, Erin; Richards, Linda J.; Dean, Ryan J.; Yang, Caleb; Choi, Chulwon; Hwang, Byung Joon; Lee, Jin Sook; Dobyns, William B.; Choi, Murim; Sherr, Elliott H.; Chae, Jong-Hee; Kee, Yun; Argilli, Emanuela
Academic Journal
Siwei Chen; Laurent C. Francioli; Julia K. Goodrich; Ryan L. Collins; Masahiro Kanai; Qingbo Wang; Jessica Alföldi; Nicholas A. Watts; Christopher Vittal; Laura D. Gauthier; Timothy Poterba; Michael W. Wilson; Yekaterina Tarasova; William Phu; Riley Grant; Mary T. Yohannes; Zan Koenig; Yossi Farjoun; Eric Banks; Stacey Donnelly; Stacey Gabriel; Namrata Gupta; Steven Ferriera; Charlotte Tolonen; Sam Novod; Louis Bergelson; David Roazen; Valentin Ruano-Rubio; Miguel Covarrubias; Christopher Llanwarne; Nikelle Petrillo; Gordon Wade; Thibault Jeandet; Ruchi Munshi; Kathleen Tibbetts; Maria Abreu; Carlos A. Aguilar Salinas; Tariq Ahmad; Christine M. Albert; Diego Ardissino; Irina M. Armean; Elizabeth G. Atkinson; Gil Atzmon; John Barnard; Samantha M. Baxter; Laurent Beaugerie; Emelia J. Benjamin; David Benjamin; Michael Boehnke; Lori L. Bonnycastle; Erwin P. Bottinger; Donald W. Bowden; Matthew J. Bown; Harrison Brand; Steven Brant; Ted Brookings; Sam Bryant; Sarah E. Calvo; Hannia Campos; John C. Chambers; Juliana C. Chan; Katherine R. Chao; Sinéad Chapman; Daniel I. Chasman; Rex Chisholm; Judy Cho; Rajiv Chowdhury; Mina K. Chung; Wendy K. Chung; Kristian Cibulskis; Bruce Cohen; Kristen M. Connolly; Adolfo Correa; Beryl B. Cummings; Dana Dabelea; John Danesh; Dawood Darbar; Phil Darnowsky; Joshua Denny; Ravindranath Duggirala; Josée Dupuis; Patrick T. Ellinor; Roberto Elosua; James Emery; Eleina England; Jeanette Erdmann; Tõnu Esko; Emily Evangelista; Diane Fatkin; Jose Florez; Andre Franke; Jack Fu; Martti Färkkilä; Kiran Garimella; Jeff Gentry; Gad Getz; David C. Glahn; Benjamin Glaser; Stephen J. Glatt; David Goldstein; Clicerio Gonzalez; Leif Groop; Sanna Gudmundsson; Andrea Haessly; Christopher Haiman; Ira Hall; Craig L. Hanis; Matthew Harms; Mikko Hiltunen; Matti M. Holi; Christina M. Hultman; Chaim Jalas; Mikko Kallela; Diane Kaplan; Jaakko Kaprio; Sekar Kathiresan; Eimear E. Kenny; Bong-Jo Kim; Young Jin Kim; Daniel King; George Kirov; Jaspal Kooner; Seppo Koskinen; Harlan M. Krumholz; Subra Kugathasan; Soo Heon Kwak; Markku Laakso; Nicole Lake; Trevyn Langsford; Kristen M. Laricchia; Terho Lehtimäki; Monkol Lek; Emily Lipscomb; Ruth J. F. Loos; Wenhan Lu; Steven A. Lubitz; Teresa Tusie Luna; Ronald C. W. Ma; Gregory M. Marcus; Jaume Marrugat; Kari M. Mattila; Steven McCarroll; Mark I. McCarthy; Jacob L. McCauley; Dermot McGovern; Ruth McPherson; James B. Meigs; Olle Melander; Andres Metspalu; Deborah Meyers; Eric V. Minikel; Braxton D. Mitchell; Vamsi K. Mootha; Aliya Naheed; Saman Nazarian; Peter M. Nilsson; Michael C. O’Donovan; Yukinori Okada; Dost Ongur; Lorena Orozco; Michael J. Owen; Colin Palmer; Nicholette D. Palmer; Aarno Palotie; Kyong Soo Park; Carlos Pato; Ann E. Pulver; Dan Rader; Nazneen Rahman; Alex Reiner; Anne M. Remes; Dan Rhodes; Stephen Rich; John D. Rioux; Samuli Ripatti; Dan M. Roden; Jerome I. Rotter; Nareh Sahakian; Danish Saleheen; Veikko Salomaa; Andrea Saltzman; Nilesh J. Samani; Kaitlin E. Samocha; Alba Sanchis-Juan; Jeremiah Scharf; Molly Schleicher; Heribert Schunkert; Sebastian Schönherr; Eleanor G. Seaby; Svati H. Shah; Megan Shand; Ted Sharpe; Moore B. Shoemaker; Tai Shyong; Edwin K. Silverman; Moriel Singer-Berk; Pamela Sklar; Jonathan T. Smith; J. Gustav Smith; Hilkka Soininen; Harry Sokol; Rachel G. Son; Jose Soto; Tim Spector; Christine Stevens; Nathan O. Stitziel; Patrick F. Sullivan; Jaana Suvisaari; E. Shyong Tai; Kent D. Taylor; Yik Ying Teo; Ming Tsuang; Tiinamaija Tuomi; Dan Turner; Teresa Tusie-Luna; Erkki Vartiainen; Marquis Vawter; Lily Wang; Arcturus Wang; James S. Ware; Hugh Watkins; Rinse K. Weersma; Ben Weisburd; Maija Wessman; Nicola Whiffin; James G. Wilson; Ramnik J. Xavier; Anne O’Donnell-Luria; Matthew Solomonson; Cotton Seed; Alicia R. Martin; Michael E. Talkowski; Heidi L. Rehm; Mark J. Daly; Grace Tiao; Benjamin M. Neale; Daniel G. MacArthur; Konrad J. Karczewski
Nature. 625:92-100
Academic Journal
Töpf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Bönnemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xavière; Löscher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Martí, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O’Donnell-Luria, Anne; Ogonuki, Narumi; O’Grady, Gina L.; O’Heir, Emily; Paquay, Stéphanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; Van den Bergh, Peter; VanNoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; MacArthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
Nature Genetics. 56(3):395-407
Academic Journal
Lecoquierre, François ; Punt, A. Mattijs ; Ebstein, Frédéric ; Wallaard, Ilse ; Verhagen, Rob ; Studencka-Turski, Maja ; Duffourd, Yannis ; Moutton, Sébastien ; Tran Mau-Them, Frédédic ; Philippe, Christophe ; Dean, John ; Tennant, Stephen ; Brooks, Alice S. ; van Slegtenhorst, Marjon A. ; Jurgens, Julie A. ; Barry, Brenda J. ; Chan, Wai-Man ; England, Eleina M. ; Martinez Ojeda, Mayra ; Engle, Elizabeth C. ; Robson, Caroline D. ; Morrow, Michelle ; Innes, A. Micheil ; Lamont, Ryan ; Sanderson, Matthea ; Krüger, Elke ; Thauvin, Christel ; Distel, Ben ; Faivre, Laurence ; Elgersma, Ype ; Vitobello, Antonio
In Genetics in Medicine June 2024 26(6)
Academic Journal
Gabrielle Lemire; Alba Sanchis-Juan; Kathryn Russell; Samantha Baxter; Katherine R. Chao; Moriel Singer-Berk; Emily Groopman; Isaac Wong; Eleina England; Julia Goodrich; Lynn Pais; Christina Austin-Tse; Stephanie DiTroia; Emily O’Heir; Vijay S. Ganesh; Monica H. Wojcik; Emily Evangelista; Hana Snow; Ikeoluwa Osei-Owusu; Jack Fu; Mugdha Singh; Yulia Mostovoy; Steve Huang; Kiran Garimella; Samantha L. Kirkham; Jennifer E. Neil; Diane D. Shao; Christopher A. Walsh; Emanuela Argili; Carolyn Le; Elliott H. Sherr; Joseph Gleeson; Shirlee Shril; Ronen Schneider; Friedhelm Hildebrandt; Vijay G. Sankaran; Jill A. Madden; Casie A. Genetti; Alan H. Beggs; Pankaj B. Agrawal; Kinga M. Bujakowska; Emily Place; Eric A. Pierce; Sandra Donkervoort; Carsten G. Bönnemann; Lyndon Gallacher; Zornitza Stark; Tiong Tan; Susan M. White; Ana Töpf; Volker Straub; Mark D. Fleming; Martin R. Pollak; Katrin Õunap; Sander Pajusalu; Kirsten A. Donald; Zandre Bruwer; Gianina Ravenscroft; Nigel G. Laing; Daniel G. MacArthur; Heidi L. Rehm; Michael E. Talkowski; Harrison Brand; Anne O’Donnell-Luria
medRxiv
American Journal of Human Genetics, vol 111, iss 5
American Journal of Human Genetics, vol 111, iss 5
Academic Journal
Abarca-Barriga, Hugo; Al-Haddad, Christiane; Berman, Jeffrey L.; Bothun, Erick D.; Capasso, Jenina; Chacon-Camacho, Oscar Francisco; Chang, Lan; Christiansen, Stephen P.; Ciccarelli, Maria Laura; Cordonnier, Monique; Cox, Gerald F.; Curry, Cynthia J.; Dagi, Linda R.; Lee Dahm, Thomas; David, Karen L.; Davitt, Bradley V.; De Berardinis, Teresa; Demer, Joseph L.; Désir, Julie; D’Esposito, Fabiana; Drack, Arlene V.; Eggenberger, Eric; Elder, James E.; Elliott, Alexandra T.; Epley, K. David; Feldman, Hagit Baris; Ferreira, Carlos R.; Flaherty, Maree P.; Fulton, Anne B.; Gerth-Kahlert, Christina; Gottlob, Irene; Grill, Stephen; Halliday, Dorothy J.; Hanisch, Frank; Hay, Eleanor; Heidary, Gena; Holder, Christopher; Horton, Jonathan C.; Iannaccone, Alessandro; Isenberg, Sherwin J.; Johnston, Suzanne C.; Kahana, Alon; Katowitz, James A.; Kazlas, Melanie; Kerr, Natalie C.; Kimonis, Virginia; Ko, Melissa W.; Koc, Feray; Larsen, Dorte Ancher; Lay-Son, Guillermo; Ledoux, Danielle M.; Levin, Alex V.; Levy, Richard L.; Lyons, Christopher J.; Mackey, David A.; Magli, Adriano; Mantagos, Iason S.; Marti, Candice; Maystadt, Isabelle; McKenzie, Fiona; Menezes, Manoj P.; Mikail, Claudia N.; Miller, David T.; Miller, Kathryn Bisceglia; Mills, Monte D.; Miyana, Kaori; Moller, H.U.; Mullineaux, Lisa; Nishimura, Julie K.; Noble, A. Gwendolyn; Pandey, Pramod Kumar; Pavone, Piero; Penzien, Johann; Petersen, Robert; Phalen, James A.; Poduri, Annapurna; Polo, Claudia R.; Prasov, Lev; Ramos, Feliciano J.; Ramos-Caceres, Maria; Robb, Richard M.; Rossillion, Béatrice; Sahin, Mustafa; Singer, Harvey S.; Smith, Lois E.H.; Sorkin, Jeffrey A.; Soul, Janet S.; Staffieri, Sandra E.; Stalker, Heather J.; Stasheff, Steven F.; Strassberg, Sonya; Strominger, Mitchell B.; Taranath, Deepa Ajay; Thomas, Ioan Talfryn; Traboulsi, Elias I.; Ugrin, Maria Cristina; VanderVeen, Deborah K.; Vincent, Andrea L.; Vogel G, Marlene C.; Wabbels, Bettina; Wong, Agnes M.F.; Woods, C. Geoffrey; Wu, Carolyn; Yang, Edward; Yeung, Alison; Young, Terri L.; Zenteno, Juan C.; Zubcov-Iwantscheff, Alexandra A.; Zwaan, Johan; Jurgens, Julie A. ; Barry, Brenda J. ; Chan, Wai-Man ; MacKinnon, Sarah ; Whitman, Mary C. ; Matos Ruiz, Paola M. ; Pratt, Brandon M. ; England, Eleina M. ; Pais, Lynn ; Lemire, Gabrielle ; Groopman, Emily ; Glaze, Carmen ; Russell, Kathryn A. ; Singer-Berk, Moriel ; Di Gioia, Silvio Alessandro ; Lee, Arthur S. ; Andrews, Caroline ; Shaaban, Sherin ; Wirth, Megan M. ; Bekele, Sarah ; Toffoloni, Melissa ; Bradford, Victoria R. ; Foster, Emma E. ; Berube, Lindsay ; Rivera-Quiles, Cristina ; Mensching, Fiona M. ; Sanchis-Juan, Alba ; Fu, Jack M. ; Wong, Isaac ; Zhao, Xuefang ; Wilson, Michael W. ; Weisburd, Ben ; Lek, Monkol ; Brand, Harrison ; Talkowski, Michael E. ; MacArthur, Daniel G. ; O’Donnell-Luria, Anne ; Robson, Caroline D. ; Hunter, David G. ; Engle, Elizabeth C.
In Genetics in Medicine July 2024
Academic Journal
Michael H. Guo; Laurent C. Francioli; Sarah L. Stenton; Julia K. Goodrich; Nicholas A. Watts; Moriel Singer-Berk; Emily Groopman; Philip W. Darnowsky; Matthew Solomonson; Samantha Baxter; Maria Abreu; Carlos A. Aguilar Salinas; Tariq Ahmad; Christine M. Albert; Jessica Alföldi; Diego Ardissino; Irina M. Armean; Gil Atzmon; Eric Banks; John Barnard; Samantha M. Baxter; Laurent Beaugerie; Emelia J. Benjamin; David Benjamin; Louis Bergelson; Michael Boehnke; Lori L. Bonnycastle; Erwin P. Bottinger; Donald W. Bowden; Matthew J. Bown; Steven Brant; Sarah E. Calvo; Hannia Campos; John C. Chambers; Juliana C. Chan; Katherine R. Chao; Sinéad Chapman; Daniel Chasman; Siwei Chen; Rex L. Chisholm; Judy Cho; Rajiv Chowdhury; Mina K. Chung; Wendy K. Chung; Kristian Cibulskis; Bruce Cohen; Ryan L. Collins; Kristen M. Connolly; Adolfo Correa; Miguel Covarrubias; Beryl Cummings; Dana Dabelea; John Danesh; Dawood Darbar; Joshua Denny; Stacey Donnelly; Ravindranath Duggirala; Josée Dupuis; Patrick T. Ellinor; Roberto Elosua; James Emery; Eleina England; Jeanette Erdmann; Tõnu Esko; Emily Evangelista; Yossi Farjoun; Diane Fatkin; Steven Ferriera; Jose Florez; Andre Franke; Martti Färkkilä; Stacey Gabriel; Kiran Garimella; Laura D. Gauthier; Jeff Gentry; Gad Getz; David C. Glahn; Benjamin Glaser; Stephen J. Glatt; David Goldstein; Clicerio Gonzalez; Leif Groop; Sanna Gudmundsson; Namrata Gupta; Andrea Haessly; Christopher Haiman; Ira Hall; Craig Hanis; Matthew Harms; Mikko Hiltunen; Matti M. Holi; Christina M. Hultman; Chaim Jalas; Thibault Jeandet; Mikko Kallela; Diane Kaplan; Jaakko Kaprio; Sekar Kathiresan; Eimear Kenny; Bong-Jo Kim; Young Jin Kim; George Kirov; Zan Koenig; Jaspal Kooner; Seppo Koskinen; Harlan M. Krumholz; Subra Kugathasan; Soo Heon Kwak; Markku Laakso; Nicole Lake; Trevyn Langsford; Kristen M. Laricchia; Terho Lehtimäki; Monkol Lek; Emily Lipscomb; Christopher Llanwarne; Ruth J. F. Loos; Steven A. Lubitz; Teresa Tusie Luna; Ronald C. W. Ma; Gregory M. Marcus; Jaume Marrugat; Alicia R. Martin; Kari M. Mattila; Steven McCarroll; Mark I. McCarthy; Jacob McCauley; Dermot McGovern; Ruth McPherson; James B. Meigs; Olle Melander; Andres Metspalu; Deborah Meyers; Eric V. Minikel; Braxton D. Mitchell; Vamsi K. Mootha; Ruchi Munshi; Aliya Naheed; Saman Nazarian; Peter M. Nilsson; Sam Novod; Anne H. O’Donnell-Luria; Michael C. O’Donovan; Yukinori Okada; Dost Ongur; Lorena Orozco; Michael J. Owen; Colin Palmer; Nicholette D. Palmer; Aarno Palotie; Kyong Soo Park; Carlos Pato; Nikelle Petrillo; William Phu; Timothy Poterba; Ann E. Pulver; Dan Rader; Nazneen Rahman; Alex Reiner; Anne M. Remes; Dan Rhodes; Stephen Rich; John D. Rioux; Samuli Ripatti; David Roazen; Dan M. Roden; Jerome I. Rotter; Valentin Ruano-Rubio; Nareh Sahakian; Danish Saleheen; Veikko Salomaa; Andrea Saltzman; Nilesh J. Samani; Jeremiah Scharf; Molly Schleicher; Heribert Schunkert; Sebastian Schönherr; Eleanor Seaby; Cotton Seed; Svati H. Shah; Megan Shand; Moore B. Shoemaker; Tai Shyong; Edwin K. Silverman; Pamela Sklar; J. Gustav Smith; Jonathan T. Smith; Hilkka Soininen; Harry Sokol; Rachel G. Son; Jose Soto; Tim Spector; Christine Stevens; Nathan Stitziel; Patrick F. Sullivan; Jaana Suvisaari; E. Shyong Tai; Michael E. Talkowski; Yekaterina Tarasova; Kent D. Taylor; Yik Ying Teo; Kathleen Tibbetts; Charlotte Tolonen; Ming Tsuang; Tiinamaija Tuomi; Dan Turner; Teresa Tusie-Luna; Erkki Vartiainen; Marquis Vawter; Christopher Vittal; Gordon Wade; Arcturus Wang; Qingbo Wang; James S. Ware; Hugh Watkins; Rinse K. Weersma; Ben Weisburd; Maija Wessman; Nicola Whiffin; Michael W. Wilson; James G. Wilson; Ramnik J. Xavier; Mary T. Yohannes; Grace Tiao; Benjamin M. Neale; Joel N. Hirschhorn; Heidi L. Rehm; Mark J. Daly; Anne O’Donnell-Luria; Konrad J. Karczewski; Daniel G. MacArthur; Kaitlin E. Samocha
bioRxiv
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration
Academic Journal
Del-Pozo-Rodriguez, Jordi; Tilly, Peggy; Lecat, Romain; Vaca, Hugo Rolando; Mosser, Laureline; Brivio, Elena; Balla, Till; Gomes, Marina Vitoria; Ramos-Morales, Elizabeth; Schwaller, Noemie; Salinas-Giege, Thalia; Vannoy, Grace; England, Eleina M.; Kern Lovgren, Alysia; O'Leary, Melanie; Chopra, Maya; Meave Ojeda, Naomi; Toosi, Mehran Beiraghi; Eslahi, Atieh; Alerasool, Masoome; Mojarrad, Majid; Pais, Lynn S.; Yeh, Rebecca C.; Gable, Dustin L.; Hashem, Mais O.; Abdulwahab, Firdous; Rakiz Alqurashi, Muath; Sbeih, Loai Z.; Adas Blanco, Omar Abu; Khater, Renad Abu; Oprea, Gabriela; Rad, Aboulfazl; Alzaidan, Hamad; Aldhalaan, Hesham; Tous, Ehab; Alsagheir, Afaf; Alowain, Mohammed; Tamim, Abdullah; Alfayez, Khowlah; Alhashem, Amal; Alnuzha, Aisha; Kamel, Mona; Al-Awam, Bashayer S.; Elnaggar, Walaa; Almenabawy, Nihal; O'Donnell-Luria, Anne; Neil, Jennifer E.; Gleeson, Joseph G.; Walsh, Christopher A.; Alkuraya, Fowzan S.; Alabdi, Lama; Elkhateeb, Nour; Selim, Laila; Srivastava, Siddharth; Nedialkova, Danny D.; Drouard, Laurence; Romier, Christophe; Bayam, Efil; Godin, Juliette D.
Academic Journal
Qian, Xuyu ; DeGennaro, Ellen M. ; Talukdar, Maya ; Akula, Shyam K. ; Lai, Abbe ; Shao, Diane D. ; Gonzalez, Dilenny ; Marciano, Jack H. ; Smith, Richard S. ; Hylton, Norma K. ; Yang, Edward ; Bazan, J. Fernando ; Barrett, Lee ; Yeh, Rebecca C. ; Hill, R. Sean ; Beck, Samantha G. ; Otani, Aoi ; Angad, Jolly ; Mitani, Tadahiro ; Posey, Jennifer E. ; Pehlivan, Davut ; Calame, Daniel ; Aydin, Hatip ; Yesilbas, Osman ; Parks, Kendall C. ; Argilli, Emanuela ; England, Eleina ; Im, Kiho ; Taranath, Ajay ; Scott, Hamish S. ; Barnett, Christopher P. ; Arts, Peer ; Sherr, Elliott H. ; Lupski, James R. ; Walsh, Christopher A.
In Developmental Cell 24 October 2022 57(20):2381-2396
Academic Journal
Christina Austin-Tse; Stephanie DiTroia; Melanie O'Leary; Grace VanNoy; Brian Mangilog; Gulalai Shah; Eva Martinez; Jillian Serrano; Lynn Pais; Emily O'Heir; Ikeoluwa Osei-Owusu; Gabrielle Lemire; Vijay Ganesh; Sarah Stenton; Mutaz Amin; Kayla Socarras; Mugdha Singh; Stacey Hall; Katie Larsson; Moriel Singer-Berk; Daniel Marten; Michael Wilson; Hana Snow; Benjamin Blankenmeister; Jialan Ma; Ben Weisburd; Alba Sanchis-Juan; Harrison Brand; Emily Groopman; Alysia Lovgren; Clara Williamson; Marissa Hollyer; Eleina England; Eleanor Seaby; Katherine Chao; Julia Goodrich; Samantha Baxter; Daniel MacArthur; Michael Talkowski; Monica Wojcik; Anne O'Donnell-Luria; Heidi Rehm
Genetics in Medicine Open, Vol 2, Iss , Pp 101481- (2024)
Academic Journal
Adams, Marcia; Aguet, François; Akay, Gulsen; Anderson, Peter; Antonescu, Corina; Arachchi, Harindra M.; Atik, Mehmed M.; Austin-Tse, Christina A.; Babb, Larry; Bacus, Tamara J.; Bahrambeigi, Vahid; Balasubramanian, Suganthi; Bayram, Yavuz; Beaudet, Arthur L.; Beck, Christine R.; Belmont, John W.; Below, Jennifer E.; Bilguvar, Kaya; Boehm, Corinne D.; Boerwinkle, Eric; Boone, Philip M.; Bowne, Sara J.; Brand, Harrison; Buckingham, Kati J.; Byrne, Alicia B.; Calame, Daniel; Campbell, Ian M.; Cao, Xiaolong; Carvalho, Claudia; Chander, Varuna; Chang, Jaime; Chao, Katherine R.; Chinn, Ivan K.; Clarke, Declan; Collins, Ryan L.; Cummings, Beryl; Dardas, Zain; Dawood, Moez; Delano, Kayla; DiTroia, Stephanie P.; Doddapaneni, Harshavardhan; Du, Haowei; Du, Renqian; Duan, Ruizhi; Eldomery, Mohammad; Eng, Christine M.; England, Eleina; Evangelista, Emily; Everett, Selin; Fatih, Jawid; Felsenfeld, Adam; Francioli, Laurent C.; Frazar, Christian D.; Fu, Jack; Gamarra, Emmanuel; Gambin, Tomasz; Gan, Weiniu; Gandhi, Mira; Ganesh, Vijay S.; Garimella, Kiran V.; Gauthier, Laura D.; Giroux, Danielle; Gonzaga-Jauregui, Claudia; Goodrich, Julia K.; Gordon, William W.; Griffith, Sean; Grochowski, Christopher M.; Gu, Shen; Gudmundsson, Sanna; Hall, Stacey J.; Hansen, Adam; Harel, Tamar; Harmanci, Arif O.; Herman, Isabella; Hetrick, Kurt; Hijazi, Hadia; Horike-Pyne, Martha; Hsu, Elvin; Hu, Jianhong; Huang, Yongqing; Hurless, Jameson R.; Jahl, Steve; Jarvik, Gail P.; Jiang, Yunyun; Johanson, Eric; Jolly, Angad; Karaca, Ender; Khayat, Michael; Knight, James; Kolar, J. Thomas; Kumar, Sushant; Lalani, Seema; Laricchia, Kristen M.; Larkin, Kathryn E.; Leal, Suzanne M.; Lemire, Gabrielle; Lewis, Richard A.; Li, He; Ling, Hua; Lipson, Rachel B.; Liu, Pengfei; Lovgren, Alysia Kern; López-Giráldez, Francesc; MacMillan, Melissa P.; Mangilog, Brian E.; Mano, Stacy; Marafi, Dana; Marosy, Beth; Marshall, Jamie L.; Martin, Renan; Marvin, Colby T.; Mawhinney, Michelle; McGee, Sean; McGoldrick, Daniel J.; Mehaffey, Michelle; Mekonnen, Betselote; Meng, Xiaolu; Mitani, Tadahiro; Miyake, Christina Y.; Mohr, David; Morris, Shaine; Mullen, Thomas E.; Murdock, David R.; Murugan, Mullai; Muzny, Donna M.; Myers, Ben; Neira, Juanita; Nguyen, Kevin K.; Nielsen, Patrick M.; Nudelman, Natalie; O’Heir, Emily; O’Leary, Melanie C.; Ongaco, Chrissie; Orange, Jordan; Osei-Owusu, Ikeoluwa A.; Paine, Ingrid S.; Pais, Lynn S.; Paschall, Justin; Patterson, Karynne; Pehlivan, Davut; Pelle, Benjamin; Penney, Samantha; Perez de Acha Chavez, Jorge; Pierce-Hoffman, Emma; Poli, Cecilia M.; Punetha, Jaya; Radhakrishnan, Aparna; Richardson, Matthew A.; Rodrigues, Eliete; Roote, Gwendolin T.; Rosenfeld, Jill A.; Ryke, Erica L.; Sabo, Aniko; Sanchez, Alice; Schrauwen, Isabelle; Scott, Daryl A.; Sedlazeck, Fritz; Serrano, Jillian; Shaw, Chad A.; Shelford, Tameka; Shively, Kathryn M.; Singer-Berk, Moriel; Smith, Joshua D.; Snow, Hana; Snyder, Grace; Solomonson, Matthew; Son, Rachel G.; Song, Xiaofei; Stankiewicz, Pawel; Stephan, Taylorlyn; Sutton, V. Reid; Sveden, Abigail; Sánchez, Diana Cornejo; Tackett, Monica; Talkowski, Michael; Threlkeld, Machiko S.; Tiao, Grace; Udler, Miriam S.; Vail, Laura; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Wang, Gao; Wang, Lu; Wangler, Michael F.; Watts, Nicholas A.; Weisburd, Ben; Weiss, Jeffrey M.; Wheeler, Marsha M.; White, Janson J.; Williamson, Clara E.; Wilson, Michael W.; Wiszniewski, Wojciech; Withers, Marjorie A.; Witmer, Dane; Witzgall, Lauren; Wohler, Elizabeth; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Wu, Nan; Xing, Jinchuan; Yang, Yaping; Yi, Qian; Yuan, Bo; Zeiger, Jordan E.; Zhang, Chaofan; Zhang, Peng; Zhang, Yan; Zhang, Xiaohong; Zhang, Yeting; Zhang, Shifa; Zoghbi, Huda; van den Veyver, Igna; Baxter, Samantha M. ; Posey, Jennifer E. ; Lake, Nicole J. ; Sobreira, Nara ; Chong, Jessica X. ; Buyske, Steven ; Blue, Elizabeth E. ; Chadwick, Lisa H. ; Coban-Akdemir, Zeynep H. ; Doheny, Kimberly F. ; Davis, Colleen P. ; Lek, Monkol ; Wellington, Christopher ; Jhangiani, Shalini N. ; Gerstein, Mark ; Gibbs, Richard A. ; Lifton, Richard P. ; MacArthur, Daniel G. ; Matise, Tara C. ; Lupski, James R. ; Valle, David ; Bamshad, Michael J. ; Hamosh, Ada ; Mane, Shrikant ; Nickerson, Deborah A. ; Rehm, Heidi L. ; O’Donnell-Luria, Anne
In Genetics in Medicine April 2022 24(4):784-797
Academic Journal
Marcogliese, Paul C. ; Deal, Samantha L. ; Andrews, Jonathan ; Harnish, J. Michael ; Bhavana, V. Hemanjani ; Graves, Hillary K. ; Jangam, Sharayu ; Luo, Xi ; Liu, Ning ; Bei, Danqing ; Chao, Yu-Hsin ; Hull, Brooke ; Lee, Pei-Tseng ; Pan, Hongling ; Bhadane, Pradnya ; Huang, Mei-Chu ; Longley, Colleen M. ; Chao, Hsiao-Tuan ; Chung, Hyung-lok ; Haelterman, Nele A. ; Kanca, Oguz ; Manivannan, Sathiya N. ; Rossetti, Linda Z. ; German, Ryan J. ; Gerard, Amanda ; Schwaibold, Eva Maria Christina ; Fehr, Sarah ; Guerrini, Renzo ; Vetro, Annalisa ; England, Eleina ; Murali, Chaya N. ; Barakat, Tahsin Stefan ; van Dooren, Marieke F. ; Wilke, Martina ; van Slegtenhorst, Marjon ; Lesca, Gaetan ; Sabatier, Isabelle ; Chatron, Nicolas ; Brownstein, Catherine A. ; Madden, Jill A. ; Agrawal, Pankaj B. ; Keren, Boris ; Courtin, Thomas ; Perrin, Laurence ; Brugger, Melanie ; Roser, Timo ; Leiz, Steffen ; Mau-Them, Frederic Tran ; Delanne, Julian ; Sukarova-Angelovska, Elena ; Trajkova, Slavica ; Rosenhahn, Erik ; Strehlow, Vincent ; Platzer, Konrad ; Keller, Roberto ; Pavinato, Lisa ; Brusco, Alfredo ; Rosenfeld, Jill A. ; Marom, Ronit ; Wangler, Michael F. ; Yamamoto, Shinya
In Cell Reports 15 March 2022 38(11)
Academic Journal
Zampaglione, Erin ; Maher, Matthew ; Place, Emily M. ; Wagner, Naomi E. ; DiTroia, Stephanie ; Chao, Katherine R. ; England, Eleina ; CMG, Broad ; Catomeris, Andrew ; Nassiri, Sherwin ; Himes, Seraphim ; Pagliarulo, Joey ; Ferguson, Charles ; Galdikaité-Braziené, Eglé ; Cole, Brian ; Pierce, Eric A. ; Bujakowska, Kinga M.
In Genetics in Medicine February 2022 24(2):332-343
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