Publications | International Center for Genetic Disease at Harvard Medical School

Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association With Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis.

Authors :Hylind RJ , Pereira AC , Quiat D , Chandler SF , Roston TM , Pu WT , Bezzerides VJ , Seidman JG , Seidman CE , Abrams DJ

Published On :2022 Jun

Journal Article

A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes.

Authors :Seaby EG , Smedley D , Taylor Tavares AL , Brittain H , van Jaarsveld RH , Baralle D , Rehm HL , O'Donnell-Luria A , Ennis S , Genomics England Research Consortium

Published On :2022 Aug

Journal Article

Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study.

Authors :Pierpont EI , Kenney-Jung DL , Shanley R , Zatkalik AL , Whitmarsh AE , Kroening SJ , Roberts AE , Zenker M

Published On :2022 Jul

Journal Article

Drug therapy and monitoring for inflammatory bowel disease: a multinational questionnaire investigation in Asia.

Authors :Cai C , Lu J , Lai L , Song D , Shen J , Tong J , Zheng Q , Wu K , Qian J , Ran Z

Published On :2022 Apr

Journal Article

Unilateral Modified Posterior Lumbar Interbody Fusion Combined With Contralateral Lamina Fenestration Treating Severe Lumbarspinal Stenosis: A Retrospective Clinical Study.

Authors :Xue Y , Li S , Wang Y , Zhang H , Cheng L , Wu Y , Wang Q , Wang D , Zou T , Shen J

Published On :2023 Feb

Journal Article

The human genetic epidemiology of COVID-19.

Authors :Niemi MEK , Daly MJ , Ganna A

Published On :2022 Sep

Journal Article Review

An integrated pipeline for mammalian genetic screening.

Authors :Kramme C , Plesa AM , Wang HH , Wolf B , Smela MP , Guo X , Kohman RE , Chatterjee P , Church GM

Published On :2021 Oct 25

Journal Article

Discovery and validation of human genomic safe harbor sites for gene and cell therapies.

Authors :Aznauryan E , Yermanos A , Kinzina E , Devaux A , Kapetanovic E , Milanova D , Church GM , Reddy ST

Published On :2022 Jan 24

Journal Article

World Bank speeds Africa's COVID vaccination.

Authors :Walsh C

Published On :2022 Apr

News Comment

PDGF-BB-derived supramolecular hydrogel for promoting skin wound healing.

Authors :Jian K , Yang C , Li T , Wu X , Shen J , Wei J , Yang Z , Yuan D , Zhao M , Shi J

Published On :2022 Apr 26

Journal Article

Protein and lipid mass concentration measurement in tissues by stimulated Raman scattering microscopy.

Authors :Oh S , Lee C , Yang W , Li A , Mukherjee A , Basan M , Ran C , Yin W , Tabin CJ , Fu D , Xie XS , Kirschner MW

Published On :2022 Apr 26

Journal Article

Somatic genomic changes in single Alzheimer's disease neurons.

Authors :Miller MB , Huang AY , Kim J , Zhou Z , Kirkham SL , Maury EA , Ziegenfuss JS , Reed HC , Neil JE , Rento L , Ryu SC , Ma CC , Luquette LJ , Ames HM , Oakley DH , Frosch MP , Hyman BT , Lodato MA , Lee EA , Walsh CA

Published On :2022 Apr

Journal Article

STAAR workflow: a cloud-based workflow for scalable and reproducible rare variant analysis.

Authors :Gaynor SM , Westerman KE , Ackovic LL , Li X , Li Z , Manning AK , Philippakis A , Lin X

Published On :2022 May 26

Journal Article

Core indicators of an evaluation and guidance system for quality of care in inflammatory bowel disease centers: A critical review.

Authors :Chen Y , Shen J

Published On :2022 Apr

Journal Article Review

Co-existing Hypertension and Hyperhomocysteinemia Increases the Risk of Carotid Vulnerable Plaque and Subsequent Vascular Event: An MR Vessel Wall Imaging Study.

Authors :Li D , Qiao H , Yang X , Li J , Dai W , Chen X , Shen J , Zhao X

Published On :2022

Journal Article