Publications | International Center for Genetic Disease at Harvard Medical School

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

Authors :Thompson BA , Greenblatt MS , Vallee MP , Herkert JC , Tessereau C , Young EL , Adzhubey IA , Li B , Bell R , Feng B , Mooney SD , Radivojac P , Sunyaev SR , Frebourg T , Hofstra RM , Sijmons RH , Boucher K , Thomas A , Goldgar DE , Spurdle AB , Tavtigian SV

Published On :2013 Jan

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

Prenatal exposure to maternal cigarette smoking, amygdala volume, and fat intake in adolescence.

Authors :Haghighi A , Schwartz DH , Abrahamowicz M , Leonard GT , Perron M , Richer L , Veillette S , Gaudet D , Paus T , Pausova Z

Published On :2013 Jan

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

Wains: a pattern-seeking artificial life species.

Authors :de Buitléir A , Russell M , Daly M

Published On :2012 Fall

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

Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling.

Authors :Rana HQ , Balwani M , Bier L , Alcalay RN

Published On :2013 Feb

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

A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.

Authors :Haghighi A , Scott CA , Poon DS , Yaghoobi R , Saleh-Gohari N , Plagnol V , Kelsell DP

Published On :2013 Feb

Case Reports Letter Research Support, Non-U.S. Gov't

Measuring cation dependent DNA polymerase fidelity landscapes by deep sequencing.

Authors :Zamft BM , Marblestone AH , Kording K , Schmidt D , Martin-Alarcon D , Tyo K , Boyden ES , Church G

Published On :2012

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.

Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development.

Authors :Lage K , Greenway SC , Rosenfeld JA , Wakimoto H , Gorham JM , Segrè AV , Roberts AE , Smoot LB , Pu WT , Pereira AC , Mesquita SM , Tommerup N , Brunak S , Ballif BC , Shaffer LG , Donahoe PK , Daly MJ , Seidman JG , Seidman CE , Larsen LA

Published On :2012 Aug 28

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

Next-generation digital information storage in DNA.

Authors :Church GM , Gao Y , Kosuri S

Published On :2012 Sep 28

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

Cyclization of fungal nonribosomal peptides by a terminal condensation-like domain.

Authors :Gao X , Haynes SW , Ames BD , Wang P , Vien LP , Walsh CT , Tang Y

Published On :2012 Oct

Journal Article Research Support, N.I.H., Extramural

Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1.

Authors :Haghighi A , Razzaghy-Azar M , Talea A , Sadeghian M , Ellard S , Haghighi A

Published On :2012 Nov

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

Inducible genetic system for the axolotl.

Authors :Whited JL , Lehoczky JA , Tabin CJ

Published On :2012 Aug 21

Journal Article Research Support, N.I.H., Extramural

Bipolar hemiarthroplasty compared with internal fixation for unstable intertrochanteric fractures in elderly patients.

Authors :Shen J , Wang DL , Chen GX , Yang HL , Li L , Wei MX , Cai XQ , Yu ZH , Cheng L , Zhang XX , Zou TM

Published On :2012 Nov

Comparative Study Journal Article

Small molecule-mediated TGF-β type II receptor degradation promotes cardiomyogenesis in embryonic stem cells.

Authors :Willems E , Cabral-Teixeira J , Schade D , Cai W , Reeves P , Bushway PJ , Lanier M , Walsh C , Kirchhausen T , Izpisua Belmonte JC , Cashman J , Mercola M

Published On :2012 Aug 3

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

Molecular basis for specific regulation of neuronal kinesin-3 motors by doublecortin family proteins.

Authors :Liu JS , Schubert CR , Fu X , Fourniol FJ , Jaiswal JK , Houdusse A , Stultz CM , Moores CA , Walsh CA

Published On :2012 Sep 14

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

zCall: a rare variant caller for array-based genotyping: genetics and population analysis.

Authors :Goldstein JI , Crenshaw A , Carey J , Grant GB , Maguire J , Fromer M , O'Dushlaine C , Moran JL , Chambert K , Stevens C , Swedish Schizophrenia Consortium , ARRA Autism Sequencing Consortium , Sklar P , Hultman CM , Purcell S , McCarroll SA , Sullivan PF , Daly MJ , Neale BM

Published On :2012 Oct 1

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