Publications | International Center for Genetic Disease at Harvard Medical School

Free radial forearm flap and anterolateral thigh flap for reconstruction of hemiglossectomy defects: A comparison of quality of life.

Authors :Zhang PP , Meng L , Shen J , Liu H , Zhang J , Xiang X , Yan YB

Published On :2018 Dec

Comparative Study Journal Article Multicenter Study

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.

Authors :Khalil R , Kenny C , Hill RS , Mochida GH , Nasir R , Partlow JN , Barry BJ , Al-Saffar M , Egan C , Stevens CR , Gabriel SB , Barkovich AJ , Ellison JW , Al-Gazali L , Walsh CA , Chahrour MH

Published On :2018 Dec

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

Associations of urinary polycyclic aromatic hydrocarbons with age at natural menopause in U.S. women aged 35-65, NHANES 2003-2012.

Authors :Huang Y , Guo J , Lv N , Li S , Wu Y , Bai R , Shen J , Chen G , Zhang D

Published On :2018 Dec

Journal Article

Admixture mapping identifies novel loci for obstructive sleep apnea in Hispanic/Latino Americans.

Authors :Wang H , Cade BE , Sofer T , Sands SA , Chen H , Browning SR , Stilp AM , Louie TL , Thornton TA , Johnson WC , Below JE , Conomos MP , Evans DS , Gharib SA , Guo X , Wood AC , Mei H , Yaffe K , Loredo JS , Ramos AR , Barrett-Connor E , Ancoli-Israel S , Zee PC , Arens R , Shah NA , Taylor KD , Tranah GJ , Stone KL , Hanis CL , Wilson JG , Gottlieb DJ , Patel SR , Rice K , Post WS , Rotter JI , Sunyaev SR , Cai J , Lin X , Purcell SM , Laurie CC , Saxena R , Redline S , Zhu X

Published On :2019 Feb 15

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

Unique pelvic fin in a tetrapod-like fossil fish, and the evolution of limb patterning.

Authors :Jeffery JE , Storrs GW , Holland T , Tabin CJ , Ahlberg PE

Published On :2018 Nov 20

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

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