Publications | International Center for Genetic Disease at Harvard Medical School

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

Somatic mosaicism and neurodevelopmental disease.

Authors :D'Gama AM , Walsh CA

Published On :2018 Nov

Journal Article 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

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

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

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

An Unexpected Colonic Mass.

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

Published On :2019 Jan

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

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

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Authors :Oza AM , DiStefano MT , Hemphill SE , Cushman BJ , Grant AR , Siegert RK , Shen J , Chapin A , Boczek NJ , Schimmenti LA , Murry JB , Hasadsri L , Nara K , Kenna M , Booth KT , Azaiez H , Griffith A , Avraham KB , Kremer H , Rehm HL , Amr SS , Abou Tayoun AN , ClinGen Hearing Loss Clinical Domain Working Group

Published On :2018 Nov

Journal Article

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

Authors :Splinter K , Adams DR , Bacino CA , Bellen HJ , Bernstein JA , Cheatle-Jarvela AM , Eng CM , Esteves C , Gahl WA , Hamid R , Jacob HJ , Kikani B , Koeller DM , Kohane IS , Lee BH , Loscalzo J , Luo X , McCray AT , Metz TO , Mulvihill JJ , Nelson SF , Palmer CGS , Phillips JA 3rd , Pick L , Postlethwait JH , Reuter C , Shashi V , Sweetser DA , Tifft CJ , Walley NM , Wangler MF , Westerfield M , Wheeler MT , Wise AL , Worthey EA , Yamamoto S , Ashley EA , Undiagnosed Diseases Network

Published On :2018 Nov 29

Journal Article

Characterizing posttranslational modifications in prokaryotic metabolism using a multiscale workflow.

Authors :Brunk E , Chang RL , Xia J , Hefzi H , Yurkovich JT , Kim D , Buckmiller E , Wang HH , Cho BK , Yang C , Palsson BO , Church GM , Lewis NE

Published On :2018 Oct 23

Journal Article

Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations.

Authors :Gazal S , Loh PR , Finucane HK , Ganna A , Schoech A , Sunyaev S , Price AL

Published On :2018 Nov

Journal Article