학술논문
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'학술논문'
에서 검색결과 88건 | 목록
1~20
Academic Journal
Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L.; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J.; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D’Gama, Alissa M.; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M.; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B.; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A. Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J.; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L.; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S.; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A.; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A.; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A.; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P.; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M.; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O’Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel
Nature Genetics. :1-15
Academic Journal
Russell Gear; Paul Kalitsis; Melissa Glass; Bertrand Isidor; Catherine Vincent‐Delorme; Florence Petit; Judith M. A. Verhagen; Alexander Jorge; Ana Cristina Victorino Krepischi; Ikeoluwa Osei‐Owusu; Eva Martinez; Anne O'Donnell‐Luria; Nicole de Leeuw; Sarah Ruggiero; Ingo Helbig; Francis David; Natasha J. Brown
Am J Med Genet A
Academic Journal
Stenton, Sarah L.; Laricchia, Kristen; Lake, Nicole J.; Chaluvadi, Sushma; Ganesh, Vijay; DiTroia, Stephanie; Osei-Owusu, Ikeoluwa; Pais, Lynn; O’Heir, Emily; Austin-Tse, Christina; O’Leary, Melanie; Abu Shanap, Mayada; Barrows, Chelsea; Berger, Seth; Bönnemann, Carsten G.; Bujakowska, Kinga M.; Campagna, Dean R.; Compton, Alison G.; Donkervoort, Sandra; Fleming, Mark D.; Gallacher, Lyndon; Gleeson, Joseph G.; Haliloglu, Goknur; Pierce, Eric A.; Place, Emily M.; Sankaran, Vijay G.; Shimamura, Akiko; Stark, Zornitza; Tan, Tiong Yang; Thorburn, David R.; White, Susan M.; Zaki, Maha S.; Vilain, Eric; Lek, Monkol; Rehm, Heidi L.; O’Donnell-Luria, Anne
Human Genetics and Genomics Advances. 6(3)
Academic Journal
Mridul Johari; Chiara Folland; Yoshihiko Saito; Machteld M. Oud; Jevin M. Parmar; Ana Töpf; Sergei Kurbatov; Maria Ampleeva; Ekaterina Y. Zakharova; Irina A. Chekmareva; Ksenia S. Shirokova; Dmitrii Atiakshin; Thatjana Gardeitchik; Erik-Jan Kamsteeg; Evita Medici; Laura Donker Kaat; Christine C. Bruels; Seth A. Stafki; Elicia A. Estrella; Hannah R. Littel; Louis M. Kunkel; Peter B. Kang; Ikeoluwa Osei-Owusu; Lynn Pais; Melaine O’Leary; Christina Austin-Tse; Anne O’Donnell-Luria; Brian Mangilog; Francesca Clementina Radio; Adele D’Amico; Andrea Ciolfi; Marco Tartaglia; Aurélien Perrin; Charles Van Goethem; Guilhem Sole; Marie-Laure Martin-Négrier; Mireille Cossée; Casie A. Genetti; Zaheer M. Valivullah; Vedrana Milic; Gordana Kovacevic; Ana Kosac; Cristiane A.M. Moreno; Clara Gontijo Camelo; Edmar Zanoteli; Michael C. Fahey; Alan H. Beggs; John Vissing; Volker Straub; Marco Savarese; Giorgio Tasca; Nicol Voermans; Nigel G. Laing; Bjarne Udd; Ichizo Nishino; Gianina Ravenscroft
medRxiv
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
Rhett G. Marchant; Samantha J. Bryen; Melanie Bahlo; Anita Cairns; Katherine R. Chao; Alastair Corbett; Mark R. Davis; Vijay S. Ganesh; Roula Ghaoui; Kristi J. Jones; Andrew J. Kornberg; Monkol Lek; Christina Liang; Daniel G. MacArthur; Emily C. Oates; Anne O'Donnell‐Luria; Gina L. O'Grady; Ikeoluwa A. Osei‐Owusu; Haloom Rafehi; Stephen W. Reddel; Richard H. Roxburgh; Monique M. Ryan; Sarah A. Sandaradura; Liam W. Scott; Elise Valkanas; Ben Weisburd; Helen Young; Frances J. Evesson; Leigh B. Waddell; Sandra T. Cooper
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1250-1266 (2024)
Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1250-1266 (2024)
Academic Journal
Daniel Brooks; Elizabeth Burke; Sukyeong Lee; Tanya N. Eble; Melanie O’Leary; Ikeoluwa Osei-Owusu; Heidi L. Rehm; Shweta U. Dhar; Lisa Emrick; David Bick; Michelle Nehrebecky; Ellen Macnamara; Dídac Casas-Alba; Judith Armstrong; Carolina Prat; Antonio F. Martínez-Monseny; Francesc Palau; Pengfei Liu; David Adams; Seema Lalani; Jill A. Rosenfeld; Lindsay C. Burrage
Human Genetics
Academic Journal
Weisburd, Ben ; Sharma, Rakshya ; Pata, Villem ; Reimand, Tiia ; Ganesh, Vijay S. ; Austin-Tse, Christina ; Osei-Owusu, Ikeoluwa ; O’Heir, Emily ; O’Leary, Melanie ; Pais, Lynn ; Stafki, Seth A. ; Daugherty, Audrey L. ; Folland, Chiara ; Peric, Stojan ; Fahmy, Nagia ; Udd, Bjarne ; Horáková, Magda ; Łusakowska, Anna ; Manoj, Rajanna ; Nalini, Atchayaram ; Karcagi, Veronika ; Polavarapu, Kiran ; Lochmüller, Hanns ; Horvath, Rita ; Bönnemann, Carsten G. ; Donkervoort, Sandra ; Haliloğlu, Göknur ; Herguner, Ozlem ; Kang, Peter B. ; Ravenscroft, Gianina ; Laing, Nigel ; Scott, Hamish S. ; Töpf, Ana ; Straub, Volker ; Pajusalu, Sander ; Õunap, Katrin ; Tiao, Grace ; Rehm, Heidi L. ; O’Donnell-Luria, Anne
In Genetics in Medicine April 2025 27(4)
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
Yeoh, Laura; O'Leary, Melanie; Austin-Tse, Christina; Osei-Owusu, Ikeoluwa; Sanchis-Juan, Alba; Wojcik, Monica; O'Donnell-Luria, Anne; Rehm, Heidi; Sacharow, Stephanie
Genetics in Medicine Open. 3
Academic Journal
Wojcik, Monica; Genetti, Casie; Sud, Malika; Madden, Jill; Garvey, Kathleen; Osei-Owusu, Ikeoluwa; Groussis, Nicole; Al-Husayni, Sundos; Agrawal, Pankaj; Goldstein, Richard; Rehm, Heidi; O'Donnell-Luria, Anne; Beggs, Alan; Holm, Ingrid
Genetics in Medicine Open. 3
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
Academic Journal
Monica H. Wojcik; Chloe M. Reuter; Shruti Marwaha; Medhat Mahmoud; Michael H. Duyzend; Hayk Barseghyan; Bo Yuan; Philip M. Boone; Emily E. Groopman; Emmanuèle C. Délot; Deepti Jain; Alba Sanchis-Juan; Siwaar Abouhala; Jessica Albert; Miguel Almalvez; Raquel Alvarez; Mutaz Amin; Peter Anderson; Swaroop Aradhya; Euan Ashley; Themistocles Assimes; Light Auriga; Christina Austin-Tse; Mike Bamshad; Samantha Baxter; Sairam Behera; Shaghayegh Beheshti; Gill Bejerano; Seth Berger; Jon Bernstein; Sabrina Best; Benjamin Blankenmeister; Elizabeth Blue; Eric Boerwinkle; Emily Bonkowski; Devon Bonner; Philip Boone; Miriam Bornhorst; Tugce Bozkurt-Yozgatli; Harrison Brand; Kati Buckingham; Daniel Calame; Silvia Casadei; Lisa Chadwick; Clarisa Chavez; Ziwei Chen; Ivan Chinn; Jessica Chong; Zeynep Coban-Akdemir; Andrea J. Cohen; Sarah Conner; Matthew Conomos; Karen Coveler; Ya Allen Cui; Sara Currin; Robert Daber; Zain Dardas; Colleen Davis; Moez Dawood; Ivan de Dios; Celine de Esch; Meghan Delaney; Emmanuèle Délot; Stephanie DiTroia; Harsha Doddapaneni; Haowei Du; Ruizhi Duan; Shannon Dugan-Perez; Nhat Duong; Michael Duyzend; Evan Eichler; Sara Emami; Jawid Fatih; Jamie Fraser; Vincent Fusaro; Miranda Galey; Vijay Ganesh; Kiran Garimella; Richard Gibbs; Casey Gifford; Amy Ginsburg; Pagé Goddard; Stephanie Gogarten; Nikhita Gogate; William Gordon; John E. Gorzynski; William Greenleaf; Christopher Grochowski; Emily Groopman; Rodrigo Guarischi Sousa; Sanna Gudmundsson; Ashima Gulati; Daniel Guo; Walker Hale; Stacey Hall; William Harvey; Megan Hawley; Ben Heavner; Isabella Herman; Martha Horike-Pyne; Jianhong Hu; Yongqing Huang; James Hwang; Gail Jarvik; Tanner Jensen; Shalini Jhangiani; David Jimenez-Morales; Christopher Jin; Ahmed K. Saad; Amanda Kahn-Kirby; Jessica Kain; Parneet Kaur; Laura Keehan; Susan Knoblach; Arthur Ko; Jennefer Kohler; Anshul Kundaje; Soumya Kundu; Samuel M. Lancaster; Katie Larsson; Gabrielle Lemire; Richard Lewis; Wei Li; Yidan Li; Pengfei Liu; Jonathan LoTempio; James Lupski; Jialan Ma; Daniel MacArthur; Nirav Malani; Brian Mangilog; Dana Marafi; Sofia Marmolejos; Daniel Marten; Eva Martinez; Colby Marvin; Francesco Kumara Mastrorosa; Dena Matalon; Susanne May; Sean McGee; Lauren Meador; Heather Mefford; Hector Rodrigo Mendez; Alexander Miller; Danny E. Miller; Tadahiro Mitani; Stephen Montgomery; Hala Mohamed Moussa; Mariana Moyses; Chloe Munderloh; Donna Muzny; Sarah Nelson; Matthew B. Neu; Jonathan Nguyen; Thuy-mi P. Nguyen; Robert Nussbaum; Keith Nykamp; William O'Callaghan; Emily O'Heir; Melanie O'Leary; Jeren Olsen; Ikeoluwa Osei-Owusu; Anne O'Donnell-Luria; Evin Padhi; Lynn Pais; Miao Pan; Piyush Panchal; Karynne Patterson; Sheryl Payne; Davut Pehlivan; Paul Petrowski; Alicia Pham; Georgia Pitsava; Astaria Podesta; Sarah Ponce; Jennifer Posey; Jaime Prosser; Thomas Quertermous; Archana Rai; Arun Ramani; Heidi Rehm; Chloe Reuter; Jason Reuter; Matthew Richardson; Andres Rivera-Munoz; Oriane Rubio; Aniko Sabo; Monica Salani; Kaitlin Samocha; Sarah Savage; Stuart Scott; Evette Scott; Fritz Sedlazeck; Gulalai Shah; Ali Shojaie; Mugdha Singh; Josh Smith; Kevin Smith; Hana Snow; Michael Snyder; Kayla Socarras; Lea Starita; Brigitte Stark; Sarah Stenton; Andrew Stergachis; Adrienne Stilp; Laksshman Sundaram; V. Reid Sutton; Jui-Cheng Tai; Michael Talkowski; Christina Tise; Catherine Tong; Philip Tsao; Rachel Ungar; Grace VanNoy; Eric Vilain; Isabella Voutos; Kim Walker; Ben Weisburd; Jeff Weiss; Chris Wellington; Ziming Weng; Emily Westheimer; Marsha Wheeler; Matthew Wheeler; Laurens Wiel; Michael Wilson; Monica Wojcik; Quenna Wong; Issac Wong; Changrui Xiao; Rachita Yadav; Qian Yi; Jianhua Zhao; Jimmy Zhen; Harry Zhou; Lea M. Starita; Stephen B. Montgomery; Michael J. Bamshad; Jessica X. Chong; Matthew T. Wheeler; Seth I. Berger; Fritz J. Sedlazeck
The American Journal of Human Genetics. 110:1229-1248
Academic Journal
Abouhala, Siwaar ; Albert, Jessica ; Almalvez, Miguel ; Alvarez, Raquel ; Amin, Mutaz ; Anderson, Peter ; Aradhya, Swaroop ; Ashley, Euan ; Assimes, Themistocles ; Auriga, Light ; Austin-Tse, Christina ; Bamshad, Mike ; Barseghyan, Hayk ; Baxter, Samantha ; Behera, Sairam ; Beheshti, Shaghayegh ; Bejerano, Gill ; Berger, Seth ; Bernstein, Jon ; Best, Sabrina ; Blankenmeister, Benjamin ; Blue, Elizabeth ; Boerwinkle, Eric ; Bonkowski, Emily ; Bonner, Devon ; Boone, Philip ; Bornhorst, Miriam ; Brand, Harrison ; Buckingham, Kati ; Calame, Daniel ; Carter, Jennefer ; Casadei, Silvia ; Chadwick, Lisa ; Chavez, Clarisa ; Chen, Ziwei ; Chinn, Ivan ; Chong, Jessica ; Coban-Akdemir, Zeynep ; Cohen, Andrea J. ; Conner, Sarah ; Conomos, Matthew ; Coveler, Karen ; Cui, Ya Allen ; Currin, Sara ; Daber, Robert ; Dardas, Zain ; Davis, Colleen ; Dawood, Moez ; de Dios, Ivan ; de Esch, Celine ; Delaney, Meghan ; Delot, Emmanuele ; DiTroia, Stephanie ; Doddapaneni, Harsha ; Du, Haowei ; Duan, Ruizhi ; Dugan-Perez, Shannon ; Duong, Nhat ; Duyzend, Michael ; Eichler, Evan ; Emami, Sara ; Fraser, Jamie ; Fusaro, Vincent ; Galey, Miranda ; Ganesh, Vijay ; Garcia, Brandon ; Garimella, Kiran ; Gibbs, Richard ; Gifford, Casey ; Ginsburg, Amy ; Goddard, Page ; Gogarten, Stephanie ; Gogate, Nikhita ; Gordon, William ; Gorzynski, John E. ; Greenleaf, William ; Grochowski, Christopher ; Groopman, Emily ; Sousa, Rodrigo Guarischi ; Gudmundsson, Sanna ; Gulati, Ashima ; Hall, Stacey ; Harvey, William ; Hawley, Megan ; Heavner, Ben ; Horike-Pyne, Martha ; Hu, Jianhong ; Huang, Yongqing ; Hwang, James ; Jarvik, Gail ; Jensen, Tanner ; Jhangiani, Shalini ; Jimenez-Morales, David ; Jin, Christopher ; Saad, Ahmed K. ; Kahn-Kirby, Amanda ; Kain, Jessica ; Kaur, Parneet ; Keehan, Laura ; Knoblach, Susan ; Ko, Arthur ; Kundaje, Anshul ; Kundu, Soumya ; Lancaster, Samuel M. ; Larsson, Katie ; Lee, Arthur ; Lemire, Gabrielle ; Lewis, Richard ; Li, Wei ; Li, Yidan ; Liu, Pengfei ; LoTempio, Jonathan ; Lupski, James (Jim) ; Ma, Jialan ; MacArthur, Daniel ; Mahmoud, Medhat ; Malani, Nirav ; Mangilog, Brian ; Marafi, Dana ; Marmolejos, Sofia ; Marten, Daniel ; Martinez, Eva ; Marvin, Colby ; Marwaha, Shruti ; Mastrorosa, Francesco Kumara ; Matalon, Dena ; May, Susanne ; McGee, Sean ; Meador, Lauren ; Mefford, Heather ; Mendez, Hector Rodrigo ; Miller, Alexander ; Miller, Danny E. ; Mitani, Tadahiro ; Montgomery, Stephen ; Moyses, Mariana ; Munderloh, Chloe ; Muzny, Donna ; Nelson, Sarah ; Nguyen, Thuy-mi P. ; Nguyen, Jonathan ; Nussbaum, Robert ; Nykamp, Keith ; O'Callaghan, William ; O'Heir, Emily ; O'Leary, Melanie ; Olsen, Jeren ; Osei-Owusu, Ikeoluwa ; O'Donnell-Luria, Anne ; Padhi, Evin ; Pais, Lynn ; Pan, Miao ; Panchal, Piyush ; Patterson, Karynne ; Payne, Sheryl ; Pehlivan, Davut ; Petrowski, Paul ; Pham, Alicia ; Pitsava, Georgia ; Podesta, Astaria`Sara ; Ponce, Sarah ; Porter, Elizabeth ; Posey, Jennifer ; Prosser, Jaime ; Quertermous, Thomas ; Rai, Archana ; Ramani, Arun ; Rehm, Heidi ; Reuter, Chloe ; Reuter, Jason ; Richardson, Matthew ; Rivera-Munoz, Andres ; Rubio, Oriane ; Sabo, Aniko ; Salani, Monica ; Samocha, Kaitlin ; Sanchis-Juan, Alba ; Savage, Sarah ; Scott, Evette ; Scott, Stuart ; Sedlazeck, Fritz ; Shah, Gulalai ; Shojaie, Ali ; Singh, Mugdha ; Smith, Kevin ; Smith, Josh ; Snow, Hana ; Snyder, Michael ; Socarras, Kayla ; Starita, Lea ; Stark, Brigitte ; Stenton, Sarah ; Stergachis, Andrew ; Stilp, Adrienne ; Sutton, V. Reid ; Tai, Jui-Cheng ; Talkowski, Michael (Mike) ; Tise, Christina ; Tong, Catherine (Cat) ; Tsao, Philip ; Ungar, Rachel ; VanNoy, Grace ; Vilain, Eric ; Voutos, Isabella ; Walker, Kim ; Wei, Chia-Lin ; Weisburd, Ben ; Weiss, Jeff ; Wellington, Chris ; Weng, Ziming ; Westheimer, Emily ; Wheeler, Marsha ; Wheeler, Matthew ; Wiel, Laurens ; Wilson, Michael ; Wojcik, Monica ; Wong, Quenna ; Xiao, Changrui ; Yadav, Rachita ; Yi, Qian ; Yuan, Bo ; Zhao, Jianhua ; Zhen, Jimmy ; Zhou, Harry ; Chong, Jessica X. ; Berger, Seth I. ; Smith, Erica ; Calame, Daniel G. ; Hawley, Megan H. ; Rivera-Munoz, E. Andres ; Bamshad, Michael J. ; Rehm, Heidi L.
In Genetics in Medicine October 2024 26(10)
Academic Journal
Stenton, Sarah L.; Laricchia, Kristen; Lake, Nicole J.; Chaluvadi, Sushma; Ganesh, Vijay; DiTroia, Stephanie; Osei-Owusu, Ikeoluwa; Pais, Lynn; O’Heir, Emily; Austin-Tse, Christina; O’Leary, Melanie; Abu Shanap, Mayada; Barrows, Chelsea; Berger, Seth; Bönnemann, Carsten G.; Bujakowska, Kinga M.; Campagna, Dean R.; Compton, Alison G.; Donkervoort, Sandra; Fleming, Mark D.; Gallacher, Lyndon; Gleeson, Joseph G.; Haliloglu, Goknur; Pierce, Eric A.; Place, Emily M.; Sankaran, Vijay G.; Shimamura, Akiko; Stark, Zornitza; Tan, Tiong Yang; Thorburn, David R.; White, Susan M.; Vilain, Eric; Lek, Monkol; Rehm, Heidi L.; O’Donnell-Luria, Anne
medRxiv
Academic Journal
Stenton, Sarah L.; O’Leary, Melanie C.; Lemire, Gabrielle; VanNoy, Grace E.; DiTroia, Stephanie; Ganesh, Vijay S.; Groopman, Emily; O’Heir, Emily; Mangilog, Brian; Osei-Owusu, Ikeoluwa; Pais, Lynn S.; Serrano, Jillian; Singer-Berk, Moriel; Weisburd, Ben; Wilson, Michael W.; Austin-Tse, Christina; Abdelhakim, Marwa; Althagafi, Azza; Babbi, Giulia; Bellazzi, Riccardo; Bovo, Samuele; Carta, Maria Giulia; Casadio, Rita; Coenen, Pieter-Jan; De Paoli, Federica; Floris, Matteo; Gajapathy, Manavalan; Hoehndorf, Robert; Jacobsen, Julius O. B.; Joseph, Thomas; Kamandula, Akash; Katsonis, Panagiotis; Kint, Cyrielle; Lichtarge, Olivier; Limongelli, Ivan; Lu, Yulan; Magni, Paolo; Mamidi, Tarun Karthik Kumar; Martelli, Pier Luigi; Mulargia, Marta; Nicora, Giovanna; Nykamp, Keith; Pejaver, Vikas; Peng, Yisu; Pham, Thi Hong Cam; Podda, Maurizio S.; Rao, Aditya; Rizzo, Ettore; Saipradeep, Vangala G.; Savojardo, Castrense; Schols, Peter; Shen, Yang; Sivadasan, Naveen; Smedley, Damian; Soru, Dorian; Srinivasan, Rajgopal; Sun, Yuanfei; Sunderam, Uma; Tan, Wuwei; Tiwari, Naina; Wang, Xiao; Wang, Yaqiong; Williams, Amanda; Worthey, Elizabeth A.; Yin, Rujie; You, Yuning; Zeiberg, Daniel; Zucca, Susanna; Bakolitsa, Constantina; Brenner, Steven E.; Fullerton, Stephanie M.; Radivojac, Predrag; Rehm, Heidi L.; O’Donnell-Luria, Anne
Human Genomics. 18(1)
Academic Journal
Austin-Tse, Christina; DiTroia, Stephanie; O'Leary, Melanie; VanNoy, Grace; Mangilog, Brian; Shah, Gulalai; Martinez, Eva; Serrano, Jillian; Pais, Lynn; O'Heir, Emily; Osei-Owusu, Ikeoluwa; Lemire, Gabrielle; Ganesh, Vijay; Stenton, Sarah; Amin, Mutaz; Socarras, Kayla; Singh, Mugdha; Hall, Stacey; Larsson, Katie; Singer-Berk, Moriel; Marten, Daniel; Wilson, Michael; Snow, Hana; Blankenmeister, Benjamin; Ma, Jialan; Weisburd, Ben; Sanchis-Juan, Alba; Brand, Harrison; Groopman, Emily; Lovgren, Alysia; Williamson, Clara; Hollyer, Marissa; England, Eleina; Seaby, Eleanor; Chao, Katherine; Goodrich, Julia; Baxter, Samantha; MacArthur, Daniel; Talkowski, Michael; Wojcik, Monica; O'Donnell-Luria, Anne; Rehm, Heidi
Genetics in Medicine Open. 2
Academic Journal
Samantha M. Baxter; Jennifer E. Posey; Nicole J. Lake; Nara Sobreira; Jessica X. Chong; Steven Buyske; Elizabeth E. Blue; Lisa H. Chadwick; Zeynep H. Coban-Akdemir; Kimberly F. Doheny; Colleen P. Davis; Monkol Lek; Christopher Wellington; Shalini N. Jhangiani; Mark Gerstein; Richard A. Gibbs; Richard P. Lifton; Daniel G. MacArthur; Tara C. Matise; James R. Lupski; David Valle; Michael J. Bamshad; Ada Hamosh; Shrikant Mane; Deborah A. Nickerson; Marcia Adams; François Aguet; Gulsen Akay; Peter Anderson; Corina Antonescu; Harindra M. Arachchi; Mehmed M. Atik; Christina A. Austin-Tse; Larry Babb; Tamara J. Bacus; Vahid Bahrambeigi; Suganthi Balasubramanian; Yavuz Bayram; Arthur L. Beaudet; Christine R. Beck; John W. Belmont; Jennifer E. Below; Kaya Bilguvar; Corinne D. Boehm; Eric Boerwinkle; Philip M. Boone; Sara J. Bowne; Harrison Brand; Kati J. Buckingham; Alicia B. Byrne; Daniel Calame; Ian M. Campbell; Xiaolong Cao; Claudia Carvalho; Varuna Chander; Jaime Chang; Katherine R. Chao; Ivan K. Chinn; Declan Clarke; Ryan L. Collins; Beryl Cummings; Zain Dardas; Moez Dawood; Kayla Delano; Stephanie P. DiTroia; Harshavardhan Doddapaneni; Haowei Du; Renqian Du; Ruizhi Duan; Mohammad Eldomery; Christine M. Eng; Eleina England; Emily Evangelista; Selin Everett; Jawid Fatih; Adam Felsenfeld; Laurent C. Francioli; Christian D. Frazar; Jack Fu; Emmanuel Gamarra; Tomasz Gambin; Weiniu Gan; Mira Gandhi; Vijay S. Ganesh; Kiran V. Garimella; Laura D. Gauthier; Danielle Giroux; Claudia Gonzaga-Jauregui; Julia K. Goodrich; William W. Gordon; Sean Griffith; Christopher M. Grochowski; Shen Gu; Sanna Gudmundsson; Stacey J. Hall; Adam Hansen; Tamar Harel; Arif O. Harmanci; Isabella Herman; Kurt Hetrick; Hadia Hijazi; Martha Horike-Pyne; Elvin Hsu; Jianhong Hu; Yongqing Huang; Jameson R. Hurless; Steve Jahl; Gail P. Jarvik; Yunyun Jiang; Eric Johanson; Angad Jolly; Ender Karaca; Michael Khayat; James Knight; J. Thomas Kolar; Sushant Kumar; Seema Lalani; Kristen M. Laricchia; Kathryn E. Larkin; Suzanne M. Leal; Gabrielle Lemire; Richard A. Lewis; He Li; Hua Ling; Rachel B. Lipson; Pengfei Liu; Alysia Kern Lovgren; Francesc López-Giráldez; Melissa P. MacMillan; Brian E. Mangilog; Stacy Mano; Dana Marafi; Beth Marosy; Jamie L. Marshall; Renan Martin; Colby T. Marvin; Michelle Mawhinney; Sean McGee; Daniel J. McGoldrick; Michelle Mehaffey; Betselote Mekonnen; Xiaolu Meng; Tadahiro Mitani; Christina Y. Miyake; David Mohr; Shaine Morris; Thomas E. Mullen; David R. Murdock; Mullai Murugan; Donna M. Muzny; Ben Myers; Juanita Neira; Kevin K. Nguyen; Patrick M. Nielsen; Natalie Nudelman; Emily O’Heir; Melanie C. O’Leary; Chrissie Ongaco; Jordan Orange; Ikeoluwa A. Osei-Owusu; Ingrid S. Paine; Lynn S. Pais; Justin Paschall; Karynne Patterson; Davut Pehlivan; Benjamin Pelle; Samantha Penney; Jorge Perez de Acha Chavez; Emma Pierce-Hoffman; Cecilia M. Poli; Jaya Punetha; Aparna Radhakrishnan; Matthew A. Richardson; Eliete Rodrigues; Gwendolin T. Roote; Jill A. Rosenfeld; Erica L. Ryke; Aniko Sabo; Alice Sanchez; Isabelle Schrauwen; Daryl A. Scott; Fritz Sedlazeck; Jillian Serrano; Chad A. Shaw; Tameka Shelford; Kathryn M. Shively; Moriel Singer-Berk; Joshua D. Smith; Hana Snow; Grace Snyder; Matthew Solomonson; Rachel G. Son; Xiaofei Song; Pawel Stankiewicz; Taylorlyn Stephan; V. Reid Sutton; Abigail Sveden; Diana Cornejo Sánchez; Monica Tackett; Michael Talkowski; Machiko S. Threlkeld; Grace Tiao; Miriam S. Udler; Laura Vail; Zaheer Valivullah; Elise Valkanas; Grace E. VanNoy; Qingbo S. Wang; Gao Wang; Lu Wang; Michael F. Wangler; Nicholas A. Watts; Ben Weisburd; Jeffrey M. Weiss; Marsha M. Wheeler; Janson J. White; Clara E. Williamson; Michael W. Wilson; Wojciech Wiszniewski; Marjorie A. Withers; Dane Witmer; Lauren Witzgall; Elizabeth Wohler; Monica H. Wojcik; Isaac Wong; Jordan C. Wood; Nan Wu; Jinchuan Xing; Yaping Yang; Qian Yi; Bo Yuan; Jordan E. Zeiger; Chaofan Zhang; Peng Zhang; Yan Zhang; Xiaohong Zhang; Yeting Zhang; Shifa Zhang; Huda Zoghbi; Igna van den Veyver; Heidi L. Rehm; Anne O’Donnell-Luria
Genetics in Medicine. 24:784-797
Academic Journal
Riggs, Erin Rooney ; Bingaman, Taylor I. ; Barry, Carrie-Ann ; Behlmann, Andrea ; Bluske, Krista ; Bostwick, Bret ; Bright, Alison ; Chen, Chun-An ; Clause, Amanda R. ; Dharmadhikari, Avinash V. ; Ganapathi, Mythily ; Gonzaga-Jauregui, Claudia ; Grant, Andrew R. ; Hughes, Madeline Y. ; Kim, Se Rin ; Krause, Amanda ; Liao, Jun ; Lumaka, Aimé ; Mah, Michelle ; Maloney, Caitlin M. ; Mohan, Shruthi ; Osei-Owusu, Ikeoluwa A. ; Reble, Emma ; Rennie, Olivia ; Savatt, Juliann M. ; Shimelis, Hermela ; Siegert, Rebecca K. ; Sneddon, Tam P. ; Thaxton, Courtney ; Toner, Kelly A. ; Tran, Kien Trung ; Webb, Ryan ; Wilcox, Emma H. ; Yin, Jiani ; Zhuo, Xinming ; Znidarsic, Masa ; Martin, Christa Lese ; Betancur, Catalina ; Vorstman, Jacob A.S. ; Miller, David T. ; Schaaf, Christian P.
In Genetics in Medicine September 2022 24(9):1899-1908
Academic Journal
Göknur Haliloğlu; Sandra Donkervoort; Ülkühan Öztoprak; Ikeoluwa A. Osei-Owusu; Lynn Pais; Fatma Dereli Devrez; Beril Talim; Rahşan Göçmen; Serdar Ceylaner; Carsten G. Bönnemann
Neuromuscular Disorders. 48:105312
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