Publications | International Center for Genetic Disease at Harvard Medical School

Multisystem outcomes and predictors of mortality in critically ill patients with COVID-19: Demographics and disease acuity matter more than comorbidities or treatment modalities.

Authors :Alser O , Mokhtari A , Naar L , Langeveld K , Breen KA , El Moheb M , Kapoen C , Gaitanidis A , Christensen MA , Maurer LR , Mashbari H , Bankhead-Kendall B , Parks J , Fawley J , Saillant N , Mendoza A , Paranjape C , Fagenholz P , King D , Lee J , Farhat MR , Velmahos GC , Kaafarani HMA

Published On :2021 May 1

Journal Article

Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.

Authors :Ouahed J , Kelsen JR , Spessott WA , Kooshesh K , Sanmillan ML , Dawany N , Sullivan KE , Hamilton KE , Slowik V , Nejentsev S , Neves JF , Flores H , Chung WK , Wilson A , Anyane-Yeboa K , Wou K , Jain P , Field M , Tollefson S , Dent MH , Li D , Naito T , McGovern DPB , Kwong AC , Taliaferro F , Ordovas-Montanes J , Horwitz BH , Kotlarz D , Klein C , Evans J , Dorsey J , Warner N , Elkadri A , Muise AM , Goldsmith J , Thompson B , Engelhardt KR , Cant AJ , Hambleton S , Barclay A , Toth-Petroczy A , Vuzman D , Carmichael N , Bodea C , Cassa CA , Devoto M , Maas RL , Behrens EM , Giraudo CG , Snapper SB

Published On :2021 Nov 8

Journal Article

Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy.

Authors :Goli R , Li J , Brandimarto J , Levine LD , Riis V , McAfee Q , DePalma S , Haghighi A , Seidman JG , Seidman CE , Jacoby D , Macones G , Judge DP , Rana S , Margulies KB , Cappola TP , Alharethi R , Damp J , Hsich E , Elkayam U , Sheppard R , Alexis JD , Boehmer J , Kamiya C , Gustafsson F , Damm P , Ersbøll AS , Goland S , Hilfiker-Kleiner D , McNamara DM , IMAC-2 and IPAC Investigators , Arany Z

Published On :2021 May 11

Journal Article

A form of muscular dystrophy associated with pathogenic variants in JAG2.

Authors :Coppens S , Barnard AM , Puusepp S , Pajusalu S , Õunap K , Vargas-Franco D , Bruels CC , Donkervoort S , Pais L , Chao KR , Goodrich JK , England EM , Weisburd B , Ganesh VS , Gudmundsson S , O'Donnell-Luria A , Nigul M , Ilves P , Mohassel P , Siddique T , Milone M , Nicolau S , Maroofian R , Houlden H , Hanna MG , Quinlivan R , Beiraghi Toosi M , Ghayoor Karimiani E , Costagliola S , Deconinck N , Kadhim H , Macke E , Lanpher BC , Klee EW , Łusakowska A , Kostera-Pruszczyk A , Hahn A , Schrank B , Nishino I , Ogasawara M , El Sherif R , Stojkovic T , Nelson I , Bonne G , Cohen E , Boland-Augé A , Deleuze JF , Meng Y , Töpf A , Vilain C , Pacak CA , Rivera-Zengotita ML , Bönnemann CG , Straub V , Handford PA , Draper I , Walter GA , Kang PB

Published On :2021 May 6

Journal Article

A deep-learning pipeline for the diagnosis and discrimination of viral, non-viral and COVID-19 pneumonia from chest X-ray images.

Authors :Wang G , Liu X , Shen J , Wang C , Li Z , Ye L , Wu X , Chen T , Wang K , Zhang X , Zhou Z , Yang J , Sang Y , Deng R , Liang W , Yu T , Gao M , Wang J , Yang Z , Cai H , Lu G , Zhang L , Yang L , Xu W , Wang W , Olvera A , Ziyar I , Zhang C , Li O , Liao W , Liu J , Chen W , Chen W , Shi J , Zheng L , Zhang L , Yan Z , Zou X , Lin G , Cao G , Lau LL , Mo L , Liang Y , Roberts M , Sala E , Schönlieb CB , Fok M , Lau JY , Xu T , He J , Zhang K , Li W , Lin T

Published On :2021 Jun

Journal Article Multicenter Study

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.

Authors :Wahlster L , Verboon JM , Ludwig LS , Black SC , Luo W , Garg K , Voit RA , Collins RL , Garimella K , Costello M , Chao KR , Goodrich JK , DiTroia SP , O'Donnell-Luria A , Talkowski ME , Michelson AD , Cantor AB , Sankaran VG

Published On :2021 Jun 7

Journal Article

Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

Authors :Neuser S , Brechmann B , Heimer G , Brösse I , Schubert S , O'Grady L , Zech M , Srivastava S , Sweetser DA , Dincer Y , Mall V , Winkelmann J , Behrends C , Darras BT , Graham RJ , Jayakar P , Byrne B , Bar-Aluma BE , Haberman Y , Szeinberg A , Aldhalaan HM , Hashem M , Al Tenaiji A , Ismayl O , Al Nuaimi AE , Maher K , Ibrahim S , Khan F , Houlden H , Ramakumaran VS , Pagnamenta AT , Posey JE , Lupski JR , Tan WH , ElGhazali G , Herman I , Muñoz T , Repetto GM , Seitz A , Krumbiegel M , Poli MC , Kini U , Efthymiou S , Meiler J , Maroofian R , Alkuraya FS , Abou Jamra R , Popp B , Ben-Zeev B , Ebrahimi-Fakhari D

Published On :2021 Jun

Journal Article

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices.

Authors :Natarajan P , Pampana A , Graham SE , Ruotsalainen SE , Perry JA , de Vries PS , Broome JG , Pirruccello JP , Honigberg MC , Aragam K , Wolford B , Brody JA , Antonacci-Fulton L , Arden M , Aslibekyan S , Assimes TL , Ballantyne CM , Bielak LF , Bis JC , Cade BE , Do R , Doddapaneni H , Emery LS , Hung YJ , Irvin MR , Khan AT , Lange L , Lee J , Lemaitre RN , Martin LW , Metcalf G , Montasser ME , Moon JY , Muzny D , O'Connell JR , Palmer ND , Peralta JM , Peyser PA , Stilp AM , Tsai M , Wang FF , Weeks DE , Yanek LR , Wilson JG , Abecasis G , Arnett DK , Becker LC , Blangero J , Boerwinkle E , Bowden DW , Chang YC , Chen YI , Choi WJ , Correa A , Curran JE , Daly MJ , Dutcher SK , Ellinor PT , Fornage M , Freedman BI , Gabriel S , Germer S , Gibbs RA , He J , Hveem K , Jarvik GP , Kaplan RC , Kardia SLR , Kenny E , Kim RW , Kooperberg C , Laurie CC , Lee S , Lloyd-Jones DM , Loos RJF , Lubitz SA , Mathias RA , Martinez KAV , McGarvey ST , Mitchell BD , Nickerson DA , North KE , Palotie A , Park CJ , Psaty BM , Rao DC , Redline S , Reiner AP , Seo D , Seo JS , Smith AV , Tracy RP , Vasan RS , Kathiresan S , Cupples LA , Rotter JI , Morrison AC , Rich SS , Ripatti S , Willer C , NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium , FinnGen , Peloso GM

Published On :2021 Apr 12

Journal Article

Large Magnetocaloric Effect in Li(3)K(9)Gd(3)(BO(3))(7) Crystal Featuring Sandwich-Like Three-Dimensional Framework.

Authors :Liu W , Liang F , Chen Y , Song H , Feng J , Shen J , Lin Z , Tu H , Zhang G

Published On :2021 May 3

Journal Article

R2* value derived from multi-echo Dixon technique can aid discrimination between benign and malignant focal liver lesions.

Authors :Shi GZ , Chen H , Zeng WK , Gao M , Wang MZ , Zhang HT , Shen J

Published On :2021 Mar 28

Journal Article

Genome-wide enhancer maps link risk variants to disease genes.

Authors :Nasser J , Bergman DT , Fulco CP , Guckelberger P , Doughty BR , Patwardhan TA , Jones TR , Nguyen TH , Ulirsch JC , Lekschas F , Mualim K , Natri HM , Weeks EM , Munson G , Kane M , Kang HY , Cui A , Ray JP , Eisenhaure TM , Collins RL , Dey K , Pfister H , Price AL , Epstein CB , Kundaje A , Xavier RJ , Daly MJ , Huang H , Finucane HK , Hacohen N , Lander ES , Engreitz JM

Published On :2021 May

Journal Article

Low-N protein engineering with data-efficient deep learning.

Authors :Biswas S , Khimulya G , Alley EC , Esvelt KM , Church GM

Published On :2021 Apr

Journal Article

Decoupling convolution network for characterizing the metastatic lymph nodes of breast cancer patients.

Authors :Zeng R , Zhang X , Zheng C , Du JH , Gao Z , Jun W , Shen J , Lu Y

Published On :2021 Jul

Journal Article

Correction: A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.

Authors :Emdin CA , Haas ME , Khera AV , Aragam K , Chaffin M , Klarin D , Hindy G , Jiang L , Wei WQ , Feng Q , Karjalainen J , Havulinna A , Kiiskinen T , Bick A , Ardissino D , Wilson JG , Schunkert H , McPherson R , Watkins H , Elosua R , Bown MJ , Samani NJ , Baber U , Erdmann J , Gupta N , Danesh J , Saleheen D , Chang KM , Vujkovic M , Voight B , Damrauer S , Lynch J , Kaplan D , Serper M , Tsao P , Program MV , Mercader J , Hanis C , Daly M , Denny J , Gabriel S , Kathiresan S

Published On :2021 Apr

Published Erratum

DNA Adductomics by mass tag prelabeling.

Authors :Wang P , Roider E , Coulter ME , Walsh CA , Kramer CS , Beuning PJ , Giese RW

Published On :2021 Jul 15

Journal Article