Publications | International Center for Genetic Disease at Harvard Medical School

Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing.

Authors :Soares de Lima Y , Chiabai M , Shen J , Córdoba MS , Versiani BR , Benício ROA , Pogue R , Mingroni-Netto RC , Lezirovitz K , Pic-Taylor A , Mazzeu JF , Oliveira SF

Published On :2018 Dec

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

Retraction: Inactivation of the Quinone Oxidoreductases NQO1 and NQO2 Strongly Elevates the Incidence and Multiplicity of Chemically Induced Skin Tumors.

Authors :Shen J , Barrios RJ , Jaiswal AK

Published On :2018 Nov 1

Journal Article Retraction Notice

Resveratrol exerts a protective effect in chronic unpredictable mild stress-induced depressive-like behavior: involvement of the AKT/GSK3β signaling pathway in hippocampus.

Authors :Shen J , Qu C , Xu L , Sun H , Zhang J

Published On :2019 Feb

Journal Article

Carbohydrate-Based Polymer Brushes Prevent Viral Adsorption on Electrostatically Heterogeneous Interfaces.

Authors :Kumar R , Kratzer D , Cheng K , Prisby J , Sugai J , Giannobile WV , Lahann J

Published On :2019 Jan

Journal Article

PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants.

Authors :Bodea CA , Mitchell AA , Bloemendal A , Day-Williams AG , Runz H , Sunyaev SR

Published On :2018 Oct 25

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

Somatic mosaicism and neurodevelopmental disease.

Authors :D'Gama AM , Walsh CA

Published On :2018 Nov

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

CRISPR Guide RNA Cloning for Mammalian Systems.

Authors :Nageshwaran S , Chavez A , Cher Yeo N , Guo X , Lance-Byrne A , Tung A , Collins JJ , Church GM

Published On :2018 Oct 2

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

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Authors :Turnpenny PD , Wright MJ , Sloman M , Caswell R , van Essen AJ , Gerkes E , Pfundt R , White SM , Shaul-Lotan N , Carpenter L , Schaefer GB , Fryer A , Innes AM , Forbes KP , Chung WK , McLaughlin H , Henderson LB , Roberts AE , Heath KE , Paumard-Hernández B , Gener B , DDD study , Fawcett KA , Gjergja-Juraški R , Pilz DT , Fry AE

Published On :2018 Nov 1

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

Communication: Approaching exact quantum chemistry by cluster analysis of full configuration interaction quantum Monte Carlo wave functions.

Authors :Deustua JE , Magoulas I , Shen J , Piecuch P

Published On :2018 Oct 21

Journal Article

Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.

Authors :Niestroj LM , Du J , Nothnagel M , May P , Palotie A , Daly MJ , Nürnberg P , Blümcke I , Lal D

Published On :2018 Nov

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

Micropatterned Scaffolds with Immobilized Growth Factor Genes Regenerate Bone and Periodontal Ligament-Like Tissues.

Authors :Pilipchuk SP , Fretwurst T , Yu N , Larsson L , Kavanagh NM , Asa'ad F , Cheng KCK , Lahann J , Giannobile WV

Published On :2018 Nov

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

An Unexpected Colonic Mass.

Authors :Li AA , Cholankeril G , Berry GJ , Fernandez-Becker N

Published On :2019 Jan

Case Reports Letter

Aberrant histone modification and inflammatory cytokine production of peripheral CD4+ T cells in patients with oral lichen planus.

Authors :Shen J , Yin C , Jiang X , Wang X , Yang S , Song G

Published On :2019 Feb

Journal Article

Phenome-wide association studies across large population cohorts support drug target validation.

Authors :Diogo D , Tian C , Franklin CS , Alanne-Kinnunen M , March M , Spencer CCA , Vangjeli C , Weale ME , Mattsson H , Kilpeläinen E , Sleiman PMA , Reilly DF , McElwee J , Maranville JC , Chatterjee AK , Bhandari A , Nguyen KH , Estrada K , Reeve MP , Hutz J , Bing N , John S , MacArthur DG , Salomaa V , Ripatti S , Hakonarson H , Daly MJ , Palotie A , Hinds DA , Donnelly P , Fox CS , Day-Williams AG , Plenge RM , Runz H

Published On :2018 Oct 16

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

Cationic nanoparticle as an inhibitor of cell-free DNA-induced inflammation.

Authors :Liang H , Peng B , Dong C , Liu L , Mao J , Wei S , Wang X , Xu H , Shen J , Mao HQ , Gao X , Leong KW , Chen Y

Published On :2018 Oct 16

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