Publications

Authors :Fragoso DC , Al-Ajmi E , Cardenas AM , Quijada-Fraile P , Biswas A , Sudhakar S , D'Arco F , Mankad K , Al-Thihli K , Bodamer O , O'Donnell-Luria A , Yang E , Rodan L , Al-Murshedi F , Alves CAPF

Published On :2026 Jan 5

Journal Article Multicenter Study

Authors :Li Z , Xu R , Zhang X , Shen J , Chen G , Zou T , Yu X

Published On :2025 Nov

Journal Article Retraction Notice

Authors :Mollon J , Lanzagorta N , Mathias SR , Rodrigue A , Knowles EEM , Deaso E , Cadavid L , Saavedra JU , Brownstein C , D'Angelo E , Gonzalez-Heydrich J , Ramírez PZ , Sarmiento E , Bustamante C , Walsh CA , Almasy L , Nicolini H , Glahn DC

Published On :2025 Nov

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

Authors :Mishkind D , Kaneelil PR , Lester M , Mahadevan L , Tabin CJ , Goller F

Published On :2025 Nov 1

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

Authors :Adam MP , Bick S , Mirzaa GM , Wallace SE , Amemiya A , Sacharow SJ , Levy HL

Published On :1993

Review

Authors :Wang Y , Han Y , Han K , Shen J

Published On :2025 Sep 8

Journal Article Review

Authors :Arriaga TM , Mendez R , Ungar RA , Bonner DE , Matalon DR , Lemire G , Goddard PC , Padhi EM , Miller AM , Nguyen JV , Ma J , Smith KS , Scott SA , Liao L , Ng Z , Marwaha S , Bademci G , Bivona SA , Tekin M , Undiagnosed Diseases Network , Genomics Research to Elucidate the Genetics of Rare Diseases consortium , Bernstein JA , Montgomery SB , O'Donnell-Luria A , Wheeler MT , Ganesh VS

Published On :2025 Oct 2

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

Authors :Wang F , Wang Y , Zhang L , Zheng T , Shen J

Published On :2025 Dec 1

Journal Article

Authors :Loeb S , Keith SW , Gross L , Hartman RL , Beer TM , Brierley KL , Cheng HH , Couvillon A , Dicker AP , Friedman S , Gomella LG , Karsh L , Kelly WK , Lallas CD , Leader AE , Mann MJ , Mark JR , Mille P , Paller CJ , Rana HQ , Sokolova AO , Trabulsi EJ , Whang YE , Giri VN

Published On :2025 Sep

Journal Article

Authors :Karczewski KJ , Gupta R , Kanai M , Lu W , Tsuo K , Wang Y , Walters RK , Turley P , Callier S , Shah NN , Baya N , Palmer DS , Goldstein JI , Sarma G , Solomonson M , Cheng N , Bryant S , Churchhouse C , Cusick CM , Poterba T , Compitello J , King D , Zhou W , Seed C , Finucane HK , Daly MJ , Neale BM , Atkinson EG , Martin AR

Published On :2025 Oct

Journal Article Meta-Analysis

Authors :Atre S , Padalkar D , Chaugule H , Sawant T , Gupta A , Chatterjee A , Farhat M

Published On :2025

Journal Article

Authors :Leitão E , Santini A , Cogne B , Essid M , Athanasiadou M , LaFlamme CW , Marijon P , Bernard V , Chatron N , Barcia G , Keren B , Mignot C , Charles P , Besnard T , de Sainte Agathe JM , Fuerte EPA , Sengupta S , Milh M , Ramond F , Allan T , An I , Araujo C , Arpin S , Austin-Tse C , Auvin S , Baer S , Bahi-Buisson N , Bak M , Barth M , Baulac S , Weirauch NB , Begemann M , Bennett MF , Bensabath U , Bézieau S , Bhouri R , Biehler M , Hammer TB , Bogoin J , Bonanno E , Boussion S , Bramswig NC , Bris C , Brosseau-Beauvir A , Bruel AL , Buratti J , Chambon P , Chemaly N , Chesneau B , Colin E , Colmard M , Conrad S , Courtin T , Dang LT , de Saint Martin A , de Vanssay de Blavous Legendre C , Denommé-Pichon AS , DiTroia S , Doco-Fenzy M , Dubourg C , Dubucs C , Ducreux S , Dufour L , Duquet R , Durand B , Chehadeh SE , Elbracht M , Faivre L , Faoucher M , Faudet A , Forlani S , Fradin M , Gaignard P , Ganne B , Garde A , Géraud J , Gill D , Goldenberg A , Grabli D , Grisel C , Gueden S , Gueguen P , Guerrot AM , Guichet A , Härting N , Häusler MG , Heide S , Héron B , Héron D , Heulin M , Houdayer C , Isidor B , Jacquette A , Januel L , Jean-Marçais N , Jousselin K , Kaiser FJ , Kaya S , King C , Konyukh M , Kraft F , Krause J , Kirstetter R , Kuechler A , Kurth I , Labalme A , Laloy JS , Laugel V , Bricquir FL , Lèbre AS , Lebrun M , Leguern E , Levy J , Lieffering N , Lyonnet S , Lüthy K , Macdonald S , Mansour-Hendili L , Maraval J , Mattausch C , Messaoud O , Morel G , Mortreux J , Munnich A , Nabbout R , Nambot S , Navarro V , Neale A , Nguyen L , Nizon M , Nowak F , O'Leary MC , Odent S , Ojeda NM , Olin V , Õunap K , Pais LS , Paluch R , Panagiotakaki E , Patat O , Perrin-Sabourin L , Petit F , Philippe C , Piton A , Planes M , Poirsier C , Pouzet A , Prouteau C , Quéméner-Redon S , Renaud M , Richard AC , Rio M , Rivier C , Robin-Renaldo F , Rollier P , Rossi M , Roubertie A , Rupin M , Saugier-Veber P , Saneto R , Sarrazin E , Schaefer E , Schluth-Bolard C , Schneider A , Schumann I , Seplyarskiy V , Smol T , Sunyaev S , Sperelakis-Beedham B , Stenton SL , Stock F , Tharreau M , Torun D , Toulouse J , Thiyagarajah H , Valence S , Valleix S , Villard L , Ville D , Villeneuve N , Vitobello A , Waernessyckle A , Weber Y , Wieczorek D , Witkowski T , Yadavilli M , Yammine T , Zaafrane-Khachnaoui K , Zaki MS , Ziegler A , Lermine A , Nicolas G , Gleeson JG , Sadleir LG , Hildebrand MS , Scheffer IE , Whiffin N , O'Donnell-Luria A , Mefford HC , Blanc P , Thevenon J , Charbonnier C , Charenton C , Depienne C , Lesca G , Nava C

Published On :2025 Sep 4

Journal Article Preprint

Authors :Tavelli L , Barootchi S , Rodriguez MV , Mancini L , Sabri H , Nguyen T , Majzoub J , Travan S , Giannobile WV

Published On :2025 Dec

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

Authors :Xu J , Kong L , Creasey EA , Rath S , Deng L , Avila-Pacheco J , Li C , Oliver BA , Dao TT , Shih AR , Daly MJ , Shalek AK , Clish CB , Graham DB , Deguine J , Xavier RJ

Published On :2025 Nov 3

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

Authors :Young RE , Qiao L , Hernan R , Sweetser DA , Waxler JL , Scott DA , Scott TM , Lalani SR , Azamian MS , Rosenfeld JA , Bostwick B , Burrage LC , Undiagnosed Diseases Network , Rodan LH , Russell BE , Dutra-Clarke M , Kruer M , Bakhtiarim S , Darvish H , Amor DJ , Rahman S , Stals K , Bradley L , Byrne S , Tolusso LK , Wong B , Benedict L , Wallis K , Micke K , Colson C , Smol T , Southwick SV , Miller KA , Kush ML , Chorin O , Rothschild A , Wang W , Shen Y , Chung WK

Published On :2026 Mar

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