Publications

Authors :Hong X , Edmondson AC , Strong A , Pomerantz D , Michl E , Berry G , He M

Published On :2023 Nov

Case Reports Journal Article Research Support, N.I.H., Extramural

Authors :Lowther C , Valkanas E , Giordano JL , Wang HZ , Currall BB , O'Keefe K , Pierce-Hoffman E , Kurtas NE , Whelan CW , Hao SP , Weisburd B , Jalili V , Fu J , Wong I , Collins RL , Zhao X , Austin-Tse CA , Evangelista E , Lemire G , Aggarwal VS , Lucente D , Gauthier LD , Tolonen C , Sahakian N , Stevens C , An JY , Dong S , Norton ME , MacKenzie TC , Devlin B , Gilmore K , Powell BC , Brandt A , Vetrini F , DiVito M , Sanders SJ , MacArthur DG , Hodge JC , O'Donnell-Luria A , Rehm HL , Vora NL , Levy B , Brand H , Wapner RJ , Talkowski ME

Published On :2023 Sep 7

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.

Authors :Meng X , Chen Z , Li T , Nie Z , Han H , Zhong S , Yin Z , Sun S , Xie J , Shen J , Xu X , Gao C , Ran L , Xu B , Xiang Z , Wang J , Sun P , Xin P , A X , Zhang C , Qiu G , Gao H , Bian Y , Xu M , Cao B , Li F , Zheng L , Zhang X , Xiao L

Published On :2024 Jan

Journal Article Research Support, Non-U.S. Gov't

Authors :Chen Y , Li Y , Liu W , Wang Z , Li J , Chen C , Zeng G , Shen J , Song W

Published On :2023 Aug 1

Journal Article

Authors :Chao G , Zukin S , Fortuna PRJ , Boettner B , Church GM

Published On :2024 Apr

Journal Article Review

Authors :Stenton SL , O'Leary M , Lemire G , VanNoy GE , DiTroia S , Ganesh VS , Groopman E , O'Heir E , Mangilog B , Osei-Owusu I , Pais LS , Serrano J , Singer-Berk M , Weisburd B , Wilson M , Austin-Tse C , Abdelhakim M , Althagafi A , Babbi G , Bellazzi R , Bovo S , Carta MG , Casadio R , Coenen PJ , De Paoli F , Floris M , Gajapathy M , Hoehndorf R , Jacobsen JOB , Joseph T , Kamandula A , Katsonis P , Kint C , Lichtarge O , Limongelli I , Lu Y , Magni P , Mamidi TKK , Martelli PL , Mulargia M , Nicora G , Nykamp K , Pejaver V , Peng Y , Pham THC , Podda MS , Rao A , Rizzo E , Saipradeep VG , Savojardo C , Schols P , Shen Y , Sivadasan N , Smedley D , Soru D , Srinivasan R , Sun Y , Sunderam U , Tan W , Tiwari N , Wang X , Wang Y , Williams A , Worthey EA , Yin R , You Y , Zeiberg D , Zucca S , Bakolitsa C , Brenner SE , Fullerton SM , Radivojac P , Rehm HL , O'Donnell-Luria A

Published On :2023 Aug 4

Preprint Journal Article

Authors :Galazo MJ , Sweetser DA , Macklis JD

Published On :2023 Aug 29

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Authors :Mayo KR , Basford MA , Carroll RJ , Dillon M , Fullen H , Leung J , Master H , Rura S , Sulieman L , Kennedy N , Banks E , Bernick D , Gauchan A , Lichtenstein L , Mapes BM , Marginean K , Nyemba SL , Ramirez A , Rotundo C , Wolfe K , Xia W , Azuine RE , Cronin RM , Denny JC , Kho A , Lunt C , Malin B , Natarajan K , Wilkins CH , Xu H , Hripcsak G , Roden DM , Philippakis AA , Glazer D , Harris PA

Published On :2023 Aug 10

Journal Article Review Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S.

Authors :Mao X , Shen J

Published On :2024 Jan

Journal Article Review

Authors :Fleming SJ , Chaffin MD , Arduini A , Akkad AD , Banks E , Marioni JC , Philippakis AA , Ellinor PT , Babadi M

Published On :2023 Sep

Journal Article Research Support, Non-U.S. Gov't

Authors :He J , Shen J , Guo W

Published On :2023 Aug 5

Case Reports Journal Article

Authors :Niggl E , Bouman A , Briere LC , Hoogenboezem RM , Wallaard I , Park J , Admard J , Wilke M , Harris-Mostert EDRO , Elgersma M , Bain J , Balasubramanian M , Banka S , Benke PJ , Bertrand M , Blesson AE , Clayton-Smith J , Ellingford JM , Gillentine MA , Goodloe DH , Haack TB , Jain M , Krantz I , Luu SM , McPheron M , Muss CL , Raible SE , Robin NH , Spiller M , Starling S , Sweetser DA , Thiffault I , Vetrini F , Witt D , Woods E , Zhou D , Genomics England Research Consortium , Undiagnosed Diseases Network , Elgersma Y , van Esbroeck ACM

Published On :2023 Aug 3

Meta-Analysis Journal Article

Authors :Wojcik MH , Reuter CM , Marwaha S , Mahmoud M , Duyzend MH , Barseghyan H , Yuan B , Boone PM , Groopman EE , Délot EC , Jain D , Sanchis-Juan A , Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium , Starita LM , Talkowski M , Montgomery SB , Bamshad MJ , Chong JX , Wheeler MT , Berger SI , O'Donnell-Luria A , Sedlazeck FJ , Miller DE

Published On :2023 Aug 3

Journal Article Review Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural

Authors :Serrano JG , O'Leary M , VanNoy GE , Mangilog BE , Holm IA , Fraiman YS , Rehm HL , O'Donnell-Luria A , Wojcik MH

Published On :2023 Aug

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Authors :Walsh C , Muttlak SG , Sadeghi M , Missous M

Published On :2023 Jul 14

Journal Article