Publications

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

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

Authors :Köser CU , Miotto P , Ismail N , Anthony RM , Utpatel C , Merker M , Niemann S , Tahseen S , Rigouts L , Rodrigues C , Omar SV , Farhat MR , Antonenka U , Hoffmann H , Cirillo DM , Schön T

Published On :2024 Jul

Letter Comment

Authors :Chen Y , Dawes R , Kim HC , Ljungdahl A , Stenton SL , Walker S , Lord J , Lemire G , Martin-Geary AC , Ganesh VS , Ma J , Ellingford JM , Delage E , D'Souza EN , Dong S , Adams DR , Allan K , Bakshi M , Baldwin EE , Berger SI , Bernstein JA , Bhatnagar I , Blair E , Brown NJ , Burrage LC , Chapman K , Coman DJ , Compton AG , Cunningham CA , D'Souza P , Danecek P , Délot EC , Dias KR , Elias ER , Elmslie F , Evans CA , Ewans L , Ezell K , Fraser JL , Gallacher L , Genetti CA , Goriely A , Grant CL , Haack T , Higgs JE , Hinch AG , Hurles ME , Kuechler A , Lachlan KL , Lalani SR , Lecoquierre F , Leitão E , Fevre AL , Leventer RJ , Liebelt JE , Lindsay S , Lockhart PJ , Ma AS , Macnamara EF , Mansour S , Maurer TM , Mendez HR , Metcalfe K , Montgomery SB , Moosajee M , Nassogne MC , Neumann S , O'Donoghue M , O'Leary M , Palmer EE , Pattani N , Phillips J , Pitsava G , Pysar R , Rehm HL , Reuter CM , Revencu N , Riess A , Rius R , Rodan L , Roscioli T , Rosenfeld JA , Sachdev R , Shaw-Smith CJ , Simons C , Sisodiya SM , Snell P , St Clair L , Stark Z , Stewart HS , Tan TY , Tan NB , Temple SEL , Thorburn DR , Tifft CJ , Uebergang E , VanNoy GE , Vasudevan P , Vilain E , Viskochil DH , Wedd L , Wheeler MT , White SM , Wojcik M , Wolfe LA , Wolfenson Z , Wright CF , Xiao C , Zocche D , Rubenstein JL , Markenscoff-Papadimitriou E , Fica SM , Baralle D , Depienne C , MacArthur DG , Howson JMM , Sanders SJ , O'Donnell-Luria A , Whiffin N

Published On :2024 Aug

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

Authors :Hernandez AR , Scheib R , Garber JE , Rana HQ , Bychkovsky BL

Published On :2024 Jul 10

Editorial

Authors :Zhou G , Qin Y , Hong Q , Li H , Chen H , Shen J

Published On :2024 May 23

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

Authors :McDonough GA , Cheng Y , Morillo K , Doan RN , Kenny CJ , Foutz A , Kim C , Cohen ML , Appleby BS , Walsh CA , Safar JG , Huang AY , Miller MB

Published On :2024 Jun 29

Journal Article Preprint

Authors :Wei JF , Li F , Lin JW , Dou ZA , Li SQ , Shen J

Published On :2024 Sep

Journal Article Validation Study