Publications | International Center for Genetic Disease at Harvard Medical School

It's better to be lucky … successful management of an acute endobronchial tumour embolism in the ICU: a case report and review of the literature.

Authors :Walsh CJ , Olivenstein R , Forget E , Gonzalez AV

Published On :2017 May

Journal Article

Mutation of a nucleosome compaction region disrupts Polycomb-mediated axial patterning.

Authors :Lau MS , Schwartz MG , Kundu S , Savol AJ , Wang PI , Marr SK , Grau DJ , Schorderet P , Sadreyev RI , Tabin CJ , Kingston RE

Published On :2017 Mar 10

Journal Article

Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.

Authors :Yan D , Xiang G , Chai X , Qing J , Shang H , Zou B , Mittal R , Shen J , Smith RJ , Fan YS , Blanton SH , Tekin M , Morton C , Xing W , Cheng J , Liu XZ

Published On :2017

Journal Article

Low-dose penicillin exposure in early life decreases Th17 and the susceptibility to DSS colitis in mice through gut microbiota modification.

Authors :Jin S , Zhao D , Cai C , Song D , Shen J , Xu A , Qiao Y , Ran Z , Zheng Q

Published On :2017 Mar 8

Journal Article

Integration of Shh and Fgf signaling in controlling Hox gene expression in cultured limb cells.

Authors :Rodrigues AR , Yakushiji-Kaminatsui N , Atsuta Y , Andrey G , Schorderet P , Duboule D , Tabin CJ

Published On :2017 Mar 21

Journal Article

A preconsultation web-based tool to generate an agenda for discussion in diabetes outpatient clinics to improve patient outcomes (DIAT): a feasibility study.

Authors :Ukoumunne OC , Vaidya B , Frost J , Anderson R , Argyle C , Daly M , Harris-Golesworthy F , Harris J , Gibson A , Ingram W , Pinkney J , Vickery J , Britten N

Published On :2017 Mar 7

Journal Article Multicenter Study Randomized Controlled Trial

Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

Authors :Lakhani S , Doan R , Almureikhi M , Partlow JN , Al Saffar M , Elsaid MF , Alaaraj N , James Barkovich A , Walsh CA , Ben-Omran T

Published On :2017 May

Journal Article

IL-6 and PD-L1 blockade combination inhibits hepatocellular carcinoma cancer development in mouse model.

Authors :Liu H , Shen J , Lu K

Published On :2017 Apr 29

Journal Article

Biallelic mutations in human DCC cause developmental split-brain syndrome.

Authors :Jamuar SS , Schmitz-Abe K , D'Gama AM , Drottar M , Chan WM , Peeva M , Servattalab S , Lam AN , Delgado MR , Clegg NJ , Zayed ZA , Dogar MA , Alorainy IA , Jamea AA , Abu-Amero K , Griebel M , Ward W , Lein ES , Markianos K , Barkovich AJ , Robson CD , Grant PE , Bosley TM , Engle EC , Walsh CA , Yu TW

Published On :2017 Apr

Journal Article

Gene Therapy in a Patient with Sickle Cell Disease.

Authors :Ribeil JA , Hacein-Bey-Abina S , Payen E , Magnani A , Semeraro M , Magrin E , Caccavelli L , Neven B , Bourget P , El Nemer W , Bartolucci P , Weber L , Puy H , Meritet JF , Grevent D , Beuzard Y , Chrétien S , Lefebvre T , Ross RW , Negre O , Veres G , Sandler L , Soni S , de Montalembert M , Blanche S , Leboulch P , Cavazzana M

Published On :2017 Mar 2

Journal Article

Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation.

Authors :Berry GT

Published On :2017 Sep

Journal Article

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.

Authors :Carlston CM , O'Donnell-Luria AH , Underhill HR , Cummings BB , Weisburd B , Minikel EV , Birnbaum DP , Exome Aggregation Consortium , Tvrdik T , MacArthur DG , Mao R

Published On :2017 May

Journal Article Review

Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types.

Authors :Chun S , Casparino A , Patsopoulos NA , Croteau-Chonka DC , Raby BA , De Jager PL , Sunyaev SR , Cotsapas C

Published On :2017 Apr

Journal Article

Relation of Low-Density Lipoprotein Cholesterol to Ischemic Stroke in Patients With Nonvalvular Atrial Fibrillation.

Authors :Qi Z , Chen H , Wen Z , Yuan F , Ni H , Gao W , Shen J , Li J , Lin Y , Shan Y , Jin B , Yan P , Shi H , Luo X

Published On :2017 Apr 15

Journal Article

Clinical manifestations of severe enterovirus 71 infection and early assessment in a Southern China population.

Authors :Yang SD , Li PQ , Li YM , Li W , Lai WY , Zhu CP , Tao JP , Deng L , Liu HS , Ma WC , Lu JM , Hong Y , Liang YT , Shen J , Hu DD , Gao YY , Zhou Y , Situ MX , Chen YL

Published On :2017 Feb 17

Journal Article Multicenter Study