Publications | International Center for Genetic Disease at Harvard Medical School

Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

Authors :Roberts AE , Araki T , Swanson KD , Montgomery KT , Schiripo TA , Joshi VA , Li L , Yassin Y , Tamburino AM , Neel BG , Kucherlapati RS

Published On :2007 Jan

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

The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people.

Authors :Florez JC , Saxena R , Winckler W , Burtt NP , Almgren P , Bengtsson Boström K , Tuomi T , Gaudet D , Ardlie KG , Daly MJ , Altshuler D , Hirschhorn JN , Groop L

Published On :2006 Dec

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

Relayed (13)C magnetization transfer: detection of malate dehydrogenase reaction in vivo.

Authors :Yang J , Shen J

Published On :2007 Feb

Evaluation Study Journal Article Research Support, N.I.H., Intramural

WHAP: haplotype-based association analysis.

Authors :Purcell S , Daly MJ , Sham PC

Published On :2007 Jan 15

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

Enzymatic generation of the antimetabolite gamma,gamma-dichloroaminobutyrate by NRPS and mononuclear iron halogenase action in a streptomycete.

Authors :Ueki M , Galonić DP , Vaillancourt FH , Garneau-Tsodikova S , Yeh E , Vosburg DA , Schroeder FC , Osada H , Walsh CT

Published On :2006 Nov

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

BMP2 activity, although dispensable for bone formation, is required for the initiation of fracture healing.

Authors :Tsuji K , Bandyopadhyay A , Harfe BD , Cox K , Kakar S , Gerstenfeld L , Einhorn T , Tabin CJ , Rosen V

Published On :2006 Dec

Journal Article

Genetic variation in myosin IXB is associated with ulcerative colitis.

Authors :van Bodegraven AA , Curley CR , Hunt KA , Monsuur AJ , Linskens RK , Onnie CM , Crusius JB , Annese V , Latiano A , Silverberg MS , Bitton A , Fisher SA , Steinhart AH , Forbes A , Sanderson J , Prescott NJ , Strachan DP , Playford RJ , Mathew CG , Wijmenga C , Daly MJ , Rioux JD , van Heel DA

Published On :2006 Dec

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

The McGill University Health Centre Policy on sentinel events: using a standardized framework to manage sentinel events, facilitate learning and improve patient safety.

Authors :Daly M

Published On :2006

Journal Article

Fetal onset of aberrant gene expression relevant to pulmonary carcinogenesis in lung adenocarcinoma development induced by in utero arsenic exposure.

Authors :Shen J , Liu J , Xie Y , Diwan BA , Waalkes MP

Published On :2007 Feb

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

Biochemistry. Directing biosynthesis.

Authors :Fischbach MA , Walsh CT

Published On :2006 Oct 27

Journal Article

A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.

Authors :Duerr RH , Taylor KD , Brant SR , Rioux JD , Silverberg MS , Daly MJ , Steinhart AH , Abraham C , Regueiro M , Griffiths A , Dassopoulos T , Bitton A , Yang H , Targan S , Datta LW , Kistner EO , Schumm LP , Lee AT , Gregersen PK , Barmada MM , Rotter JI , Nicolae DL , Cho JH

Published On :2006 Dec 1

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

Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity.

Authors :Lyon HN , Florez JC , Bersaglieri T , Saxena R , Winckler W , Almgren P , Lindblad U , Tuomi T , Gaudet D , Zhu X , Cooper R , Ardlie KG , Daly MJ , Altshuler D , Groop L , Hirschhorn JN

Published On :2006 Nov

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

The pathogen-associated iroA gene cluster mediates bacterial evasion of lipocalin 2.

Authors :Fischbach MA , Lin H , Zhou L , Yu Y , Abergel RJ , Liu DR , Raymond KN , Wanner BL , Strong RK , Walsh CT , Aderem A , Smith KD

Published On :2006 Oct 31

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

Transferability of tag SNPs in genetic association studies in multiple populations.

Authors :de Bakker PI , Burtt NP , Graham RR , Guiducci C , Yelensky R , Drake JA , Bersaglieri T , Penney KL , Butler J , Young S , Onofrio RC , Lyon HN , Stram DO , Haiman CA , Freedman ML , Zhu X , Cooper R , Groop L , Kolonel LN , Henderson BE , Daly MJ , Hirschhorn JN , Altshuler D

Published On :2006 Nov

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

Quantification of cortical GABA-glutamine cycling rate using in vivo magnetic resonance signal of [2-13C]GABA derived from glia-specific substrate [2-13C]acetate.

Authors :Yang J , Li SS , Bacher J , Shen J

Published On :2007 Jan

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