학술논문
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'학술논문'
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1~20
Academic Journal
Gudmundsson, Sanna, 1989; Singer-Berk, Moriel; Stenton, Sarah L.; Goodrich, Julia K.; Wilson, Michael W.; Einson, Jonah; Watts, Nicholas A.; Lappalainen, Tuuli; Rehm, Heidi L.; MacArthur, Daniel G.; O'Donnell-Luria, Anne
Nature Communications. 16(1)
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
A Reghan Foley; Véronique Bolduc; Fady Guirguis; Sandra Donkervoort; Ying Hu; Rotem Orbach; Riley M McCarty; Apurva Sarathy; Gina Norato; Beryl B Cummings; Monkol Lek; Anna Sarkozy; Russell J Butterfield; Janbernd Kirschner; Andrés Nascimento; Daniel Natera-de Benito; Susana Quijano-Roy; Tanya Stojkovic; Luciano Merlini; Giacomo Comi; Monique Ryan; Denise McDonald; Pinki Munot; Grace Yoon; Edward Leung; Erika Finanger; Meganne E Leach; James Collins; Cuixia Tian; Payam Mohassel; Sarah B Neuhaus; Dimah Saade; Benjamin T Cocanougher; Mary-Lynn Chu; Mena Scavina; Carla Grosmann; Randal Richardson; Brian D Kossak; Sidney M Gospe; Vikram Bhise; Gita Taurina; Baiba Lace; Monica Troncoso; Mordechai Shohat; Adel Shalata; Sophelia H S Chan; Manu Jokela; Johanna Palmio; Göknur Haliloğlu; Cristina Jou; Corine Gartioux; Herimela Solomon-Degefa; Carolin D Freiburg; Alvise Schiavinato; Haiyan Zhou; Sara Aguti; Yoram Nevo; Ichizo Nishino; Cecilia Jimenez-Mallebrera; Shireen R Lamandé; Valérie Allamand; Francesca Gualandi; Alessandra Ferlini; Daniel G MacArthur; Steve D Wilton; Raimund Wagener; Enrico Bertini; Francesco Muntoni; Carsten G Bönnemann
Brain
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets
Academic Journal
Alexandra Butters; Kate Thomson; Franki Harrington; Natasha Henden; Karen McGuire; Alicia B Byrne; Samantha Bryen; Kathryn A McGurk; Megan Leask; Michael J Ackerman; John Atherton; Johan M Bos; Colleen Caleshu; Sharlene M Day; Kyla Dunn; Ian Hayes; Jimmy Juang; Julie McGaughran; Natalie Nowak; Victoria N Parikh; Anne Ronan; Christopher Semsarian; Jil C Tardiff; Marianne Tiemensma; Tony R Merriman; James S Ware; Jonathan R Skinner; Daniel G MacArthur; Owen M Siggs; Richard D Bagnall; Jodie Ingles
European Heart Journal. 46:1446-1449
Academic Journal
Rocio Rius; Alexander JM Blakes; Yuyang Chen; Joachim De Jonghe; Javeria R Alvi; Florence Amblard; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V Balton; Giulia Barcia; Jonathan A Bernstein; Pierre Blanc; Daniel Buchzik; Daniel G Calame; Benjamin Cogne; Charles Coutton; Chloe A Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Vanessa Geiger; Richard A Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B Haack; Hamza Hadj Abdallah; Radu Harbuz; Bertrand Isidor; Marie-Line Jacquemont; Médéric Jeanne; G. Christoph Korenke; Urania Kotzaeridou; Richard J Leventer; James R Lupski; Pierre Marijon; Kaitlin E McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Jennifer E Posey; Chloe M Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; Christel Thauvin; Julien Thevenon; Eloise Uebergang; Catherine Vincent-Delorme; Evangeline Wassmer; Matthew T Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J Sanders; Siddharth Banka; Gregory M Findlay; Daniel G MacArthur; Cas Simons; Nicola Whiffin
Academic Journal
Hye In Kim; Christopher DeBoever; Klaudia Walter; Georgios Kalantzis; Chen Li; Sahar V. Mozaffari; Kousik Kundu; Benjamin M. Jacobs; Pedrum Mohammadi-Shemirani; Anthony M. Musolf; Jonathan M. Davitte; Melis A. Aksit; Joseph Gafton; Katrina Catalano; Adem Y. Dawed; Robert R. Graham; Bin Guo; Namrata Gupta; Teng Hiang Heng; Karen A. Hunt; Vivek Iyer; Claudia Langenberg; Frederik H. Lassen; Daniel G. MacArthur; Eamonn R. Maher; Cyrielle Maroteau; William Newman; Stephen O’Rahilly; Duncan S. Palmer; Iaroslav Popov; Moneeza Siddiqui; Michael Simpson; Marie Spreckley; John Wright; Guillermo del Angel; Slavé Petrovski; Emily R. Holzinger; Joseph C. Maranville; Laura Addis; Richard M. Turner; Karol Estrada; Simone Longerich; Joanna M. M. Howson; Yalda Jamshidi; Eric B. Fauman; Melissa R. Miller; Dorothée Diogo; Richard C. Trembath; Sarah Finer; Hilary C. Martin; David A. van Heel
Academic Journal
Nature. 581:434-443
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
Angli Xue; Jianan Fan; Oscar A. Dong; Hao Lawrence Huang; Peter C. Allen; Eleanor Spenceley; Eszter Sagi-Zsigmond; Blake Bowen; Anna S.E. Cuomo; Albert Henry; Hope A. Tanudisastro; Zhen Qiao; Ling Chen; Eyal Ben-David; Kyle Kai-How Farh; Drew Neavin; Arthur S. Lee; Anne Senabouth; Caitlin Bartie; Rachael A. McCloy; Venessa Chin; Katrina M. de Lange; Gemma A. Figtree; Alex W. Hewitt; Daniel G. MacArthur; Joseph E. Powell
Academic Journal
Academic Journal
Joachim De Jonghe; Hyung Chul Kim; Ayanfeoluwa Adedeji; Elsa Leitão; Ruebena Dawes; Yuyang Chen; Alexander JM Blakes; Cas Simons; Rocio Rius; Javeria R Alvi; Florence Amblard; Christina Austin-Tse; Sarah Baer; Elsa V Balton; Pierre Blanc; Daniel G Calame; Charles Coutton; Chloe A Cunningham; Nitsuh Dargie; Katrina M Dipple; Haowei Du; Salima El Chehadeh; Ian Glass; Joseph G Gleeson; Olivier Grunewald; Paul Gueguen; Radu Harbuz; Marie-Line Jacquemont; Richard J Leventer; Pierre Marijon; Olfa Messaoud; Tipu Sultan; Christel Thauvin; Catherine Vincent-Delorme; Elif Yilmaz Gulec; Julien Thevenon; Rodrigo Mendez; Daniel G MacArthur; Christel Depienne; Caroline Nava; Nicola Whiffin; Gregory M Findlay
medRxiv
Academic Journal
Caroline F. Wright; Luke N. Sharp; Leigh Jackson; Anna Murray; James S. Ware; Daniel G. MacArthur; Heidi L. Rehm; Kashyap A. Patel; Michael N. Weedon
Nature Genetics. 56:1772-1779
Academic Journal
Daniella H. Hock; Nikeisha J. Caruana; Liana N. Semcesen; Nicole J. Lake; Luke E. Formosa; Sumudu S. C. Amarasekera; Tegan Stait; Simone Tregoning; Leah E. Frajman; Adam M. Bournazos; David R. L. Robinson; Megan Ball; Boris Reljic; Bryony Ryder; Mathew J. Wallis; Anand Vasudevan; Cara Beck; Heidi Peters; Joy Lee; Natalie B. Tan; Mary-Louise Freckmann; Aleksandra Filipovska; Diana Stojanovski; David Coman; Sean Murray; Ryan L. Davis; Roula Ghaoui; Suzanne C. E. H. Sallevelt; Cas Simons; Stefan J. Siira; Shanti Balasubramaniam; Daniel G. MacArthur; Yoni Elbaum; Catherine Atthow; Pauline McGrath; Ellenore M. Martin; Madeleine Harris; Vasiliki Karlaftis; Chantal Attard; Paul Monagle; Amanda Samarasinghe; Rosie Brown; Weimin Bi; Monkol Lek; Robert McFarland; Robert W. Taylor; Michael T. Ryan; Sandra T. Cooper; Zornitza Stark; John Christodoulou; Alison G. Compton; David R. Thorburn; David A. Stroud
Genome Med
Genome Medicine, Vol 17, Iss 1, Pp 1-24 (2025)
Genome Medicine, Vol 17, Iss 1, Pp 1-24 (2025)
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
Ana Töpf; Dan Cox; Irina T. Zaharieva; Valeria Di Leo; Jaakko Sarparanta; Per Harald Jonson; Ian M. Sealy; Andrei Smolnikov; Richard J. White; Anna Vihola; Marco Savarese; Munise Merteroglu; Neha Wali; Kristen M. Laricchia; Cristina Venturini; Bas Vroling; Sarah L. Stenton; Beryl B. Cummings; Elizabeth Harris; Chiara Marini-Bettolo; Jordi Diaz-Manera; Matt Henderson; Rita Barresi; Jennifer Duff; Eleina M. England; Jane Patrick; Sundos Al-Husayni; Valerie Biancalana; Alan H. Beggs; Istvan Bodi; Shobhana Bommireddipalli; Carsten G. Bönnemann; Anita Cairns; Mei-Ting Chiew; Kristl G. Claeys; Sandra T. Cooper; Mark R. Davis; Sandra Donkervoort; Corrie E. Erasmus; Mahmoud R. Fassad; Casie A. Genetti; Carla Grosmann; Heinz Jungbluth; Erik-Jan Kamsteeg; Xavière Lornage; Wolfgang N. Löscher; Edoardo Malfatti; Adnan Manzur; Pilar Martí; Tiziana E. Mongini; Nuria Muelas; Atsuko Nishikawa; Anne O’Donnell-Luria; Narumi Ogonuki; Gina L. O’Grady; Emily O’Heir; Stéphanie Paquay; Rahul Phadke; Beth A. Pletcher; Norma B. Romero; Meyke Schouten; Snehal Shah; Izelle Smuts; Yves Sznajer; Giorgio Tasca; Robert W. Taylor; Allysa Tuite; Peter Van den Bergh; Grace VanNoy; Nicol C. Voermans; Julia V. Wanschitz; Elizabeth Wraige; Kimihiko Yoshimura; Emily C. Oates; Osamu Nakagawa; Ichizo Nishino; Jocelyn Laporte; Juan J. Vilchez; Daniel G. MacArthur; Anna Sarkozy; Heather J. Cordell; Bjarne Udd; Elisabeth M. Busch-Nentwich; Francesco Muntoni; Volker Straub
Nat Genet
NATURE GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Nature Genetics, 56, 3, pp. 395-407
Nature genetics
NATURE GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Nature Genetics, 56, 3, pp. 395-407
Nature genetics
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
Matthew J Welland; K.D. Ahlquist; Paul De Fazio; Christina Austin-Tse; Lynn Pais; Laura Wedd; Samantha Bryen; Rocio Rius; Michael Franklin; Caitlin Morrison; Giles Hall; Laura Gauthier; Alex Bloemendal; David I Francis; Andrew J Mallett; Amali Mallawaarachchi; Paul J Lockhart; Richard Leventer; Ingrid E Scheffer; Katherine B Howell; Karin S Kassahn; Hamish S Scott; Julie McGaughran; John Christodoulou; David R Thorburn; Bryony A Thompson; Chirag V Patel; Greg Smith; Anne O’Donnell-Luria; Simon Sadedin; Heidi L Rehm; Sebastian Lunke; Jeremiah Wander; Kaitlin E Samocha; Cas Simons; Daniel G MacArthur; Zornitza Stark
medRxiv
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