Publications | International Center for Genetic Disease at Harvard Medical School

Assaying chromosomal inversions by single-molecule haplotyping.

Authors :Turner DJ , Shendure J , Porreca G , Church G , Green P , Tyler-Smith C , Hurles ME

Published On :2006 Jun

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

Evaluating and improving power in whole-genome association studies using fixed marker sets.

Authors :Pe'er I , de Bakker PI , Maller J , Yelensky R , Altshuler D , Daly MJ

Published On :2006 Jun

Journal Article

Engineering life: building a fab for biology.

Authors :Bio FAB Group , Baker D , Church G , Collins J , Endy D , Jacobson J , Keasling J , Modrich P , Smolke C , Weiss R

Published On :2006 Jun

Journal Article

Periventricular nodular heterotopia and Williams syndrome.

Authors :Ferland RJ , Gaitanis JN , Apse K , Tantravahi U , Walsh CA , Sheen VL

Published On :2006 Jun 15

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

Administration of rabbit anti-thymocyte globulin during cardiopulmonary bypass: a novel approach to the highly sensitized cardiac transplant patient.

Authors :Okum EJ , Perez-Tamayo RA , Higgins RS , Kasirajan V , Flattery M , Crowley S

Published On :2006 May

Case Reports Letter

[Investigation of proximal femoral marrow with magnetic resonance imaging in recovered patients with severe acute respiratory syndrome].

Authors :Shen J , Liang BL , Zeng QS , Chen JY , Liu QY , Chen RC , Zhong NS

Published On :2006 Mar

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

SMIT1 haploinsufficiency causes brain inositol deficiency without affecting lithium-sensitive behavior.

Authors :Shaldubina A , Johanson RA , O'Brien WT , Buccafusca R , Agam G , Belmaker RH , Klein PS , Bersudsky Y , Berry GT

Published On :2006 Aug

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

Impaired proliferation and migration in human Miller-Dieker neural precursors.

Authors :Sheen VL , Ferland RJ , Harney M , Hill RS , Neal J , Banham AH , Brown P , Chenn A , Corbo J , Hecht J , Folkerth R , Walsh CA

Published On :2006 Jul

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

A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.

Authors :Graham RR , Kozyrev SV , Baechler EC , Reddy MV , Plenge RM , Bauer JW , Ortmann WA , Koeuth T , González Escribano MF , Argentine and Spanish Collaborative Groups , Pons-Estel B , Petri M , Daly M , Gregersen PK , Martín J , Altshuler D , Behrens TW , Alarcón-Riquelme ME

Published On :2006 May

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

Non-uniformly sampled double-TROSY hNcaNH experiments for NMR sequential assignments of large proteins.

Authors :Frueh DP , Sun ZY , Vosburg DA , Walsh CT , Hoch JC , Wagner G

Published On :2006 May 3

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

Cerebellar ataxia with progressive improvement.

Authors :Tsao JW , Neal J , Apse K , Stephan MJ , Dobyns WB , Hill RS , Walsh CA , Sheen VL

Published On :2006 Apr

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

The handsearching of 2 medical journals of Bahrain for reports of randomized controlled trials.

Authors :Al-Hajeri AA , Fedorowicz Z , Amin FA , Eisinga A

Published On :2006 Apr

Journal Article

Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males.

Authors :Gérard-Blanluet M , Sheen V , Machinis K , Neal J , Apse K , Danan C , Sinico M , Brugières P , Mage K , Ratsimbazafy L , Elbez A , Janaud JC , Amselem S , Walsh C , Encha-Razavi F

Published On :2006 May 15

Case Reports Journal Article

A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function.

Authors :Feske S , Gwack Y , Prakriya M , Srikanth S , Puppel SH , Tanasa B , Hogan PG , Lewis RS , Daly M , Rao A

Published On :2006 May 11

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

Identifying metabolic enzymes with multiple types of association evidence.

Authors :Kharchenko P , Chen L , Freund Y , Vitkup D , Church GM

Published On :2006 Mar 29

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