Publications | International Center for Genetic Disease at Harvard Medical School

Haplotype-based identification of a microsomal transfer protein marker associated with the human lifespan.

Authors :Geesaman BJ , Benson E , Brewster SJ , Kunkel LM , Blanché H , Thomas G , Perls TT , Daly MJ , Puca AA

Published On :2003 Nov 25

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

[Magnetic resonance imaging (MRI) findings of temporal lobe radiation encephalopathy].

Authors :Zhao JQ , Liang BL , Shen J , Sun Y

Published On :2003 Nov

English Abstract Journal Article

Availability of 11-cis retinal and opsins without chromophore as revealed by small bleaches of rhodopsin in excised albino mouse eyes.

Authors :Ostroy SE , Roberts AE , Knapp-Miller J , Spisak JM

Published On :2003 Dec

Journal Article

The amino-acid mutational spectrum of human genetic disease.

Authors :Vitkup D , Sander C , Church GM

Published On :2003

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

Effective normalization method for sample-position-dependence effect in photoacoustic spectrometry.

Authors :Shen J , Zhou J , Hu C , Zhao J

Published On :2003 Feb

Comparative Study Evaluation Study Journal Article Validation Study

Biosynthesis of Yersiniabactin, a complex polyketide-nonribosomal peptide, using Escherichia coli as a heterologous host.

Authors :Pfeifer BA , Wang CC , Walsh CT , Khosla C

Published On :2003 Nov

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

A Switch for the transfer of substrate between nonribosomal peptide and polyketide modules of the rifamycin synthetase assembly line.

Authors :Admiraal SJ , Khosla C , Walsh CT

Published On :2003 Nov 12

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

Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis.

Authors :Venditti LN , Venditti CP , Berry GT , Kaplan PB , Kaye EM , Glick H , Stanley CA

Published On :2003 Nov

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

From annotated genomes to metabolic flux models and kinetic parameter fitting.

Authors :Segrè D , Zucker J , Katz J , Lin X , D'haeseleer P , Rindone WP , Kharchenko P , Nguyen DH , Wright MA , Church GM

Published On :2003 Fall

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

Protein-truncating mutations in ASPM cause variable reduction in brain size.

Authors :Bond J , Scott S , Hampshire DJ , Springell K , Corry P , Abramowicz MJ , Mochida GH , Hennekam RC , Maher ER , Fryns JP , Alswaid A , Jafri H , Rashid Y , Mubaidin A , Walsh CA , Roberts E , Woods CG

Published On :2003 Nov

Journal Article

Impact of selection, mutation rate and genetic drift on human genetic variation.

Authors :Sunyaev S , Kondrashov FA , Bork P , Ramensky V

Published On :2003 Dec 15

Journal Article

Chirality of peptide bond-forming condensation domains in nonribosomal peptide synthetases: the C5 domain of tyrocidine synthetase is a (D)C(L) catalyst.

Authors :Clugston SL , Sieber SA , Marahiel MA , Walsh CT

Published On :2003 Oct 21

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

Lung cancer in African Americans.

Authors :Higgins RS , Lewis C , Warren WH

Published On :2003 Oct

Comparative Study Journal Article

Understanding disparities in outcomes in cardiovascular medicine and thoracic oncology in African-American patients.

Authors :Higgins RS

Published On :2003 Oct

Journal Article

Phenotype correction of Fanconi anemia group A hematopoietic stem cells using lentiviral vector.

Authors :Yamada K , Ramezani A , Hawley RG , Ebell W , Arwert F , Arnold LW , Walsh CE

Published On :2003 Oct

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