학술논문
'학술논문'
에서 검색결과 69건 | 목록
1~10
Academic Journal
Velmans, Clara; O'Donnell-Luria, Anne H.; Argilli, Emanuela; Mau-them, Frederic Tran; Vitobello, Antonio; Chan, Marcus C. Y.; Lee-Fong Fung, Jasmine; Rech, Megan; Abicht, Angela; Mucca, Marion Aubert; Carmichael, Jason; Chassaing, Nicolas; Clark, Robin; Coubes, Christine; Denommé-Pichon, Anne-Sophie; Karl de Dios, John; England, Eleina; Funalot, Benoit; Gerard, Marion; Joseph, Maries
Journal of Medical Genetics; Jul2022, Vol. 59 Issue 7, p697-705, 14p
Academic Journal
Jacquemont, Sébastien; Huguet, Guillaume; Klein, Marieke; Chawner, Samuel J.R.A.; Donald, Kirsten A.; van den Bree, Marianne B.M.; Sebat, Jonathan; Ledbetter, David H.; Constantino, John N.; Earl, Rachel K.; McDonald-McGinn, Donna M.; van Amelsvoort, Therese; Swillen, Ann; O'Donnell-Luria, Anne H.; Glahn, David C.; Almasy, Laura; Eichler, Evan E.; Scherer, Stephen W.; Robinson, Elise; Bassett, Anne S.
Academic Journal
Vonica, Alin; Bhat, Neha; Phan, Keith; Guo, Jinbai; Iancu, Lăcrimioara; Weber, Jessica A.; Karger, Amir; Cain, John W.; Wang, Etienne C.E.; DeStefano, Gina M.; O'Donnell-Luria, Anne H.; Christiano, Angela M.; Riley, Bruce; Butler, Samantha J.; Luria, Victor
Academic Journal
Cummings, Beryl B.; Karczewski, Konrad J.; Kosmicki, Jack A.; Seaby, Eleanor G.; Watts, Nicholas A.; Singer-Berk, Moriel; Mudge, Jonathan M.; Karjalainen, Juha; Satterstrom, F. Kyle; O'Donnell-Luria, Anne H.; Poterba, Timothy; Seed, Cotton; Solomonson, Matthew; Alföldi, Jessica; Genome Aggregation Database Production Team; Armean, Irina M.; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; Collins, Ryan L.
Nature; 5/28/2020, Vol. 581 Issue 7809, p452-458, 7p, 5 Graphs
Academic Journal
Wang, Qingbo; Pierce-Hoffman, Emma; Cummings, Beryl B.; Alföldi, Jessica; Francioli, Laurent C.; Gauthier, Laura D.; Hill, Andrew J.; O'Donnell-Luria, Anne H.; Genome Aggregation Database Production Team; Armean, Irina M.; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; Collins, Ryan L.; Connolly, Kristen M.; Covarrubias, Miguel; Daly, Mark J.; Donnelly, Stacey; Farjoun, Yossi; Ferriera, Steven
Nature Communications; 5/27/2020, Vol. 11 Issue 1, p1-13, 13p
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.
Academic Journal
Whiffin, Nicola; Karczewski, Konrad J.; Zhang, Xiaolei; Chothani, Sonia; Smith, Miriam J.; Evans, D. Gareth; Roberts, Angharad M.; Quaife, Nicholas M.; Schafer, Sebastian; Rackham, Owen; Alföldi, Jessica; O'Donnell-Luria, Anne H.; Francioli, Laurent C.; Genome Aggregation Database Production Team; Armean, Irina M.; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; Collins, Ryan L.; Connolly, Kristen M.
Nature Communications; 5/27/2020, Vol. 11 Issue 1, p1-12, 12p
Academic Journal
Nakka, Priyanka; Pattillo Smith, Samuel; O'Donnell-Luria, Anne H.; McManus, Kimberly F.; Mountain, Joanna L.; Ramachandran, Sohini; Sathirapongsasuti, J. Fah
Periodical
Karczewski, Konrad J.; Francioli, Laurent C.; Tiao, Grace; Cummings, Beryl B.; Alföldi, Jessica; Wang, Qingbo; Collins, Ryan L.; Laricchia, Kristen M.; Ganna, Andrea; Birnbaum, Daniel P.; Gauthier, Laura D.; Brand, Harrison; Solomonson, Matthew; Watts, Nicholas A.; Rhodes, Daniel; Singer-Berk, Moriel; England, Eleina M.; Seaby, Eleanor G.; Kosmicki, Jack A.; Walters, Raymond K.; Tashman, Katherine; Farjoun, Yossi; Banks, Eric; Poterba, Timothy; Wang, Arcturus; Seed, Cotton; Whiffin, Nicola; Chong, Jessica X.; Samocha, Kaitlin E.; Pierce-Hoffman, Emma; Zappala, Zachary; O’Donnell-Luria, Anne H.; Minikel, Eric Vallabh; Weisburd, Ben; Lek, Monkol; Ware, James S.; Vittal, Christopher; Armean, Irina M.; Bergelson, Louis; Cibulskis, Kristian; Connolly, Kristen M.; Covarrubias, Miguel; Donnelly, Stacey; Ferriera, Steven; Gabriel, Stacey; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Llanwarne, Christopher; Munshi, Ruchi; Novod, Sam; Petrillo, Nikelle; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; Schleicher, Molly; Soto, Jose; Tibbetts, Kathleen; Tolonen, Charlotte; Wade, Gordon; Talkowski, Michael E.; Neale, Benjamin M.; Daly, Mark J.; MacArthur, Daniel G.
Nature; May 2020, Vol. 581 Issue: 7809 p434-443, 10p
Periodical
Schmitz-Abe, Klaus; Li, Qifei; Rosen, Samantha M.; Nori, Neeharika; Madden, Jill A.; Genetti, Casie A.; Wojcik, Monica H.; Ponnaluri, Sadhana; Gubbels, Cynthia S.; Picker, Jonathan D.; O’Donnell-Luria, Anne H.; Yu, Timothy W.; Bodamer, Olaf; Brownstein, Catherine A.; Beggs, Alan H.; Agrawal, Pankaj B.
European Journal of Human Genetics: EJHG; September 2019, Vol. 27 Issue: 9 p1398-1405, 8p
Academic Journal
O'Donnell-Luria, Anne H.; Pais, Lynn S.; Faundes, Víctor; Wood, Jordan C.; Sveden, Abigail; Luria, Victor; Abou Jamra, Rami; Accogli, Andrea; Amburgey, Kimberly; Anderlid, Britt Marie; Azzarello-Burri, Silvia; Basinger, Alice A.; Bianchini, Claudia; Bird, Lynne M.; Buchert, Rebecca; Carre, Wilfrid; Ceulemans, Sophia; Charles, Perrine; Cox, Helen; Culliton, Lisa
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[AR] O’Donnell-Luria, Anne H.
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