Publications | International Center for Genetic Disease at Harvard Medical School

CRISPR-Cas-mediated targeted genome editing in human cells.

Authors :Yang L , Mali P , Kim-Kiselak C , Church G

Published On :2014

Journal Article

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

Authors :Joshi M , Eagan J , Desai NK , Newton SA , Towne MC , Marinakis NS , Esteves KM , De Ferranti S , Bennett MJ , McIntyre A , Beggs AH , Berry GT , Agrawal PB

Published On :2014 Oct

Journal Article

Cardiovascular disease in Noonan syndrome.

Authors :Prendiville TW , Gauvreau K , Tworog-Dube E , Patkin L , Kucherlapati RS , Roberts AE , Lacro RV

Published On :2014 Jul

Journal Article

Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning.

Authors :Bae BI , Tietjen I , Atabay KD , Evrony GD , Johnson MB , Asare E , Wang PP , Murayama AY , Im K , Lisgo SN , Overman L , Šestan N , Chang BS , Barkovich AJ , Grant PE , Topçu M , Politsky J , Okano H , Piao X , Walsh CA

Published On :2014 Feb 14

Journal Article

Recoding the genetic code with selenocysteine.

Authors :Bröcker MJ , Ho JM , Church GM , Söll D , O'Donoghue P

Published On :2014 Jan 3

Journal Article

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Authors :Reiff RE , Ali BR , Baron B , Yu TW , Ben-Salem S , Coulter ME , Schubert CR , Hill RS , Akawi NA , Al-Younes B , Kaya N , Evrony GD , Al-Saffar M , Felie JM , Partlow JN , Sunu CM , Schembri-Wismayer P , Alkuraya FS , Meyer BF , Walsh CA , Al-Gazali L , Mochida GH

Published On :2014 Jul 1

Journal Article

[Profiles of innate immune receptors and cytokines in peripheral blood mononuclear cells in children with measles].

Authors :Cao LF , Ye YZ , Xu J , Wang WJ , Xie XB , Zhu YF , Shen J , Ge YL , Pu DB , Xia AM , Xu MH , Wang XH , Yu H

Published On :2013 Dec

Journal Article

Next-generation sequencing for inherited breast cancer risk: counseling through the complexity.

Authors :Rainville IR , Rana HQ

Published On :2014 Mar

Journal Article Review

Performance assessment of separate and combined sewer systems in metropolitan areas in Southern China.

Authors :Li T , Zhang W , Feng C , Shen J

Published On :2014

Journal Article

Clinically relevant variants - identifying, collecting, interpreting, and disseminating: the 2013 annual scientific meeting of the Human Genome Variation Society.

Authors :Stanley CM , Sunyaev SR , Greenblatt MS , Oetting WS

Published On :2014 Apr

SMAD3 gene variant is a risk factor for recurrent surgery in patients with Crohn's disease.

Authors :Fowler SA , Ananthakrishnan AN , Gardet A , Stevens CR , Korzenik JR , Sands BE , Daly MJ , Xavier RJ , Yajnik V

Published On :2014 Aug

Journal Article

[Biometric identification method for ECG based on the piecewise linear representation (PLR) and dynamic time warping (DTW)].

Authors :Yang L , Shen J , Bao S , Wei S

Published On :2013 Oct

Journal Article

[Survey on iodine nutrition in high water regions of children, adult and the third trimester pregnant women in China].

Authors :Ren X , Sang Z , Shen J , Liu H , Wei W , Zhang G , Chen W , Zhang W

Published On :2013 Nov

Journal Article

Information access. Raw personal data: providing access.

Authors :Lunshof JE , Church GM , Prainsack B

Published On :2014 Jan 24

Journal Article

Porphyromonas gingivalis oral infection exacerbates the development and severity of collagen-induced arthritis.

Authors :Marchesan JT , Gerow EA , Schaff R , Taut AD , Shin SY , Sugai J , Brand D , Burberry A , Jorns J , Lundy SK , Nuñez G , Fox DA , Giannobile WV

Published On :2013 Nov 12

Journal Article