학술논문
'학술논문'
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1~10
Academic Journal
Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R.; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O’Heir, Emily; Ganesh, Vijay S.; Wojcik, Monica H.; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L.; Neil, Jennifer E.; Shao, Diane D.; Walsh, Christopher A.; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H.; Gleeson, Joseph G.; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G.; Madden, Jill A.; Genetti, Casie A.; Beggs, Alan H.; Agrawal, Pankaj B.; Bujakowska, Kinga M.; Place, Emily; Pierce, Eric A.; Donkervoort, Sandra; Bönnemann, Carsten G.; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M.; Töpf, Ana; Straub, Volker; Fleming, Mark D.; Pollak, Martin R.; Õunap, Katrin; Pajusalu, Sander; Donald, Kirsten A.; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G.; MacArthur, Daniel G.; Rehm, Heidi L.; Talkowski, Michael E.; Brand, Harrison; O’Donnell-Luria, Anne
In The American Journal of Human Genetics 2 May 2024 111(5):863-876
Academic Journal
Lowther, Chelsea; Valkanas, Elise; Giordano, Jessica L.; Wang, Harold Z.; Currall, Benjamin B.; O’Keefe, Kathryn; Pierce-Hoffman, Emma; Kurtas, Nehir E.; Whelan, Christopher W.; Hao, Stephanie P.; Weisburd, Ben; Jalili, Vahid; Fu, Jack; Wong, Isaac; Collins, Ryan L.; Zhao, Xuefang; Austin-Tse, Christina A.; Evangelista, Emily; Lemire, Gabrielle; Aggarwal, Vimla S.; Lucente, Diane; Gauthier, Laura D.; Tolonen, Charlotte; Sahakian, Nareh; Stevens, Christine; An, Joon-Yong; Dong, Shan; Norton, Mary E.; MacKenzie, Tippi C.; Devlin, Bernie; Gilmore, Kelly; Powell, Bradford C.; Brandt, Alicia; Vetrini, Francesco; DiVito, Michelle; Sanders, Stephan J.; MacArthur, Daniel G.; Hodge, Jennelle C.; O'Donnell-Luria, Anne; Rehm, Heidi L.; Vora, Neeta L.; Levy, Brynn; Brand, Harrison; Wapner, Ronald J.; Talkowski, Michael E.
In The American Journal of Human Genetics 7 September 2023 110(9):1454-1469
Academic Journal
McGurk, Kathryn A.; Zhang, Xiaolei; Theotokis, Pantazis; Thomson, Kate; Harper, Andrew; Buchan, Rachel J.; Mazaika, Erica; Ormondroyd, Elizabeth; Wright, William T.; Macaya, Daniela; Pua, Chee Jian; Funke, Birgit; MacArthur, Daniel G.; Prasad, Sanjay K.; Cook, Stuart A.; Allouba, Mona; Aguib, Yasmine; Yacoub, Magdi H.; O'Regan, Declan P.; Barton, Paul J.R.; Watkins, Hugh; Bottolo, Leonardo; Ware, James S.
In The American Journal of Human Genetics 7 September 2023 110(9):1482-1495
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
In The American Journal of Human Genetics 7 September 2023 110(9):1496-1508
Academic Journal
Karczewski, Konrad J.; Solomonson, Matthew; Chao, Katherine R.; Goodrich, Julia K.; Tiao, Grace; Lu, Wenhan; Riley-Gillis, Bridget M.; Tsai, Ellen A.; Kim, Hye In; Zheng, Xiuwen; Rahimov, Fedik; Esmaeeli, Sahar; Grundstad, A. Jason; Reppell, Mark; Waring, Jeff; Jacob, Howard; Sexton, David; Bronson, Paola G.; Chen, Xing; Hu, Xinli; Goldstein, Jacqueline I.; King, Daniel; Vittal, Christopher; Poterba, Timothy; Palmer, Duncan S.; Churchhouse, Claire; Howrigan, Daniel P.; Zhou, Wei; Watts, Nicholas A.; Nguyen, Kevin; Nguyen, Huy; Mason, Cara; Farnham, Christopher; Tolonen, Charlotte; Gauthier, Laura D.; Gupta, Namrata; MacArthur, Daniel G.; Rehm, Heidi L.; Seed, Cotton; Philippakis, Anthony A.; Daly, Mark J.; Davis, J. Wade; Runz, Heiko; Miller, Melissa R.; Neale, Benjamin M.
In Cell Genomics 14 September 2022 2(9)
Academic Journal
Gungor, Serdal; Oktay, Yavuz; Hiz, Semra; Aranguren-Ibáñez, Álvaro; Kalafatcilar, Ipek; Yaramis, Ahmet; Karaca, Ezgi; Yis, Uluc; Sonmezler, Ece; Ekinci, Burcu; Aslan, Mahmut; Yilmaz, Elmasnur; Özgör, Bilge; Balaraju, Sunitha; Szabo, Nora; Laurie, Steven; Beltran, Sergi; MacArthur, Daniel G.; Hathazi, Denisa; Töpf, Ana; Roos, Andreas; Lochmuller, Hanns; Vernos, Isabelle; Horvath, Rita
In iScience 22 January 2021 24(1)
Academic Journal
Bryen, Samantha J.; Joshi, Himanshu; Evesson, Frances J.; Girard, Cyrille; Ghaoui, Roula; Waddell, Leigh B.; Testa, Alison C.; Cummings, Beryl; Arbuckle, Susan; Graf, Nicole; Webster, Richard; MacArthur, Daniel G.; Laing, Nigel G.; Davis, Mark R.; Lührmann, Reinhard; Cooper, Sandra T.
In The American Journal of Human Genetics 5 September 2019 105(3):573-587
Academic Journal
Kipkemoi, Patricia; Kim, Heesu Ally; Christ, Bjorn; O’Heir, Emily; Allen, Jake; Austin-Tse, Christina; Baxter, Samantha; Brand, Harrison; Bryant, Sam; Buser, Nick; de Menil, Victoria; Eastman, Emma; Murugasen, Serini; Galvin, Alice; Kombe, Martha; Ngombo, Alfred; Mkubwa, Beatrice; Mwangi, Paul; Kipkoech, Collins; Lovgren, Alysia; MacArthur, Daniel G.; Melly, Brigitte; Mwangasha, Katini; Martin, Alicia; Nkambule, Lethukuthula L.; Sanchis-Juan, Alba; Singer-Berk, Moriel; Talkowski, Michael E.; VanNoy, Grace; van der Merwe, Celia; Newton, Charles; O’Donnell-Luria, Anne; Abubakar, Amina; Donald, Kirsten A.; Robinson, Elise B.
In Neuron 20 September 2023 111(18):2800-2810
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Academic Journal
Marchant, Rhett G.; Bryen, Samantha J.; Bahlo, Melanie; Cairns, Anita; Chao, Katherine R.; Corbett, Alastair; Davis, Mark R.; Ganesh, Vijay S.; Ghaoui, Roula; Jones, Kristi J.; Kornberg, Andrew J.; Lek, Monkol; Liang, Christina; MacArthur, Daniel G.; Oates, Emily C.; O'Donnell‐Luria, Anne; O'Grady, Gina L.; Osei‐Owusu, Ikeoluwa A.; Rafehi, Haloom; Reddel, Stephen W.
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
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[AR] MacArthur, Daniel G.
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