Publications

Authors :Li D , Shen J , Yang Z , Zhang Y , Li Z

Published On :2024 Oct

Journal Article

Authors :Huang Y , Jay KL , Yen-Wen Huang A , Wan J , Jangam SV , Chorin O , Rothschild A , Barel O , Mariani M , Iascone M , Xue H , Undiagnosed Diseases Network , Huang J , Mignot C , Keren B , Saillour V , Mah-Som AY , Sacharow S , Rajabi F , Costin C , Yamamoto S , Kanca O , Bellen HJ , Rosenfeld JA , Palmer CGS , Nelson SF , Wangler MF , Martinez-Agosto JA

Published On :2024 Nov

Journal Article

Authors :Jurgens JA , Barry BJ , Chan WM , MacKinnon S , Whitman MC , Matos Ruiz PM , Pratt BM , England EM , Pais L , Lemire G , Groopman E , Glaze C , Russell KA , Singer-Berk M , Di Gioia SA , Lee AS , Andrews C , Shaaban S , Wirth MM , Bekele S , Toffoloni M , Bradford VR , Foster EE , Berube L , Rivera-Quiles C , Mensching FM , Sanchis-Juan A , Fu JM , Wong I , Zhao X , Wilson MW , Weisburd B , Lek M , Ocular CCDD Phenotyping Consortium , Brand H , Talkowski ME , MacArthur DG , O'Donnell-Luria A , Robson CD , Hunter DG , Engle EC

Published On :2025 Apr

Journal Article

Authors :Wan J , Shen J , Zhong J , Ge W , Miao Y , Zhang X , Wen Z , Wang Y , Liang J , Wu K

Published On :2024 Nov

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

Authors :Stenton SL , Pejaver V , Bergquist T , Biesecker LG , Byrne AB , Nadeau EAW , Greenblatt MS , Harrison SM , Tavtigian SV , Radivojac P , Brenner SE , O'Donnell-Luria A , ClinGen Sequence Variant Interpretation Working Group

Published On :2024 Nov

Journal Article

Authors :Li P , Li S , Li Z , Lu W , Shao W , Li Z , Xu Y , Zhang H , Ju B , Shen J , Cui Y

Published On :2024 Jul 1

Journal Article

Authors :Shin T , Song JHT , Kosicki M , Kenny C , Beck SG , Kelley L , Antony I , Qian X , Bonacina J , Papandile F , Gonzalez D , Scotellaro J , Bushinsky EM , Andersen RE , Maury E , Pennacchio LA , Doan RN , Walsh CA

Published On :2024 Aug 14

Journal Article

Authors :Rots D , Choufani S , Faundes V , Dingemans AJM , Joss S , Foulds N , Jones EA , Stewart S , Vasudevan P , Dabir T , Park SM , Jewell R , Brown N , Pais L , Jacquemont S , Jizi K , Ravenswaaij-Arts CMAV , Kroes HY , Stumpel CTRM , Ockeloen CW , Diets IJ , Nizon M , Vincent M , Cogné B , Besnard T , Kambouris M , Anderson E , Zackai EH , McDougall C , Donoghue S , O'Donnell-Luria A , Valivullah Z , O'Leary M , Srivastava S , Byers H , Leslie N , Mazzola S , Tiller GE , Vera M , Shen JJ , Boles R , Jain V , Brischoux-Boucher E , Kinning E , Simpson BN , Giltay JC , Harris J , Keren B , Guimier A , Marijon P , Vries BBA , Motter CS , Mendelsohn BA , Coffino S , Gerkes EH , Afenjar A , Visconti P , Bacchelli E , Maestrini E , Delahaye-Duriez A , Gooch C , Hendriks Y , Adams H , Thauvin-Robinet C , Josephi-Taylor S , Bertoli M , Parker MJ , Rutten JW , Caluseriu O , Vernon HJ , Kaziyev J , Zhu J , Kremen J , Frazier Z , Osika H , Breault D , Nair S , Lewis SME , Ceroni F , Viggiano M , Posar A , Brittain H , Giovanna T , Giulia G , Quteineh L , Ha-Vinh Leuchter R , Zonneveld-Huijssoon E , Mellado C , Marey I , Coudert A , Aracena Alvarez MI , Kennis MGP , Bouman A , Roifman M , Amorós Rodríguez MI , Ortigoza-Escobar JD , Vernimmen V , Sinnema M , Pfundt R , Brunner HG , Vissers LELM , Kleefstra T , Weksberg R , Banka S

Published On :2024 Aug 8

Journal Article

Authors :Chen Y , Lee K , Woo J , Kim DW , Keum C , Babbi G , Casadio R , Martelli PL , Savojardo C , Manfredi M , Shen Y , Sun Y , Katsonis P , Lichtarge O , Pejaver V , Seward DJ , Kamandula A , Bakolitsa C , Brenner SE , Radivojac P , O'Donnell-Luria A , Mooney SD , Jain S

Published On :2024 Jul 2

Journal Article Preprint

Authors :Juarez EF , Peterson B , Kobayashi ES , Gilmer S , Tobin LE , Schultz B , Lenberg J , Carroll J , Bai-Tong S , Sweeney NM , Beebe C , Stewart L , Olsen L , Reinke J , Kiernan EA , Reimers R , Wigby K , Tackaberry C , Yandell M , Hobbs C , Bainbridge MN

Published On :2024 Jul 7

Journal Article Preprint

Authors :Duan Y , Shen J , Qin X , Xu B , Mao R , Li J , An Q , Liao Y , Zhang F , Chen G

Published On :2024

Journal Article Multicenter Study

Authors :Basu R , Kulkarni P , Swegan D , Duran-Ortiz S , Ahmad A , Caggiano LJ , Davis E , Walsh C , Brenya E , Koshal A , Brody R , Sandbhor U , Neggers SJCMM , Kopchick JJ

Published On :2024 Jul 6

Journal Article

Authors :Wang Z , You L , Gong N , Li C , Li Z , Shen J , Wan L , Luo K , Su X , Feng L , Chen S , Lin W

Published On :2024 Jul 2

Journal Article

Authors :Wiegand DJ , Rittichier J , Meyer E , Lee H , Conway NJ , Ahlstedt D , Yurtsever Z , Rainone D , Kuru E , Church GM

Published On :2025 May

Journal Article

Authors :Vanbelleghem E , Van Damme T , Beyens A , Symoens S , Claes K , De Backer J , Meerschaut I , Vanommeslaeghe F , Delanghe SE , van den Ende J , Beyltjens T , Scimone ER , Lindsay ME , Schimmenti LA , Hinze AM , Dunn E , Gomez-Ospina N , Vandernoot I , Delguste T , Coppens S , Cormier-Daire V , Tartaglia M , Garavelli L , Shieh J , Demir Ş , Arslan Ateş E , Zenker M , Rohanizadegan M , Rivera-Cruz G , Douzgou S , Myhre Syndrome Foundation , Lin AE , Callewaert B

Published On :2024 Sep

Journal Article