Publications | International Center for Genetic Disease at Harvard Medical School

New Approaches to the Computer Simulation of Amorphous Alloys: A Review.

Authors :Valladares AA , Díaz-Celaya JA , Galván-Colín J , Mejía-Mendoza LM , Reyes-Retana JA , Valladares RM , Valladares A , Alvarez-Ramirez F , Qu D , Shen J

Published On :2011 Apr 13

Journal Article Review

Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21.

Authors :Cukier HN , Salyakina D , Blankstein SF , Robinson JL , Sacharow S , Ma D , Wright HH , Abramson RK , Menon R , Williams SM , Haines JL , Cuccaro ML , Gilbert JR , Pericak-Vance MA

Published On :2011 Jun

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

A framework for variation discovery and genotyping using next-generation DNA sequencing data.

Authors :DePristo MA , Banks E , Poplin R , Garimella KV , Maguire JR , Hartl C , Philippakis AA , del Angel G , Rivas MA , Hanna M , McKenna A , Fennell TJ , Kernytsky AM , Sivachenko AY , Cibulskis K , Gabriel SB , Altshuler D , Daly MJ

Published On :2011 May

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

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.

Authors :Talkowski ME , Ernst C , Heilbut A , Chiang C , Hanscom C , Lindgren A , Kirby A , Liu S , Muddukrishna B , Ohsumi TK , Shen Y , Borowsky M , Daly MJ , Morton CC , Gusella JF

Published On :2011 Apr 8

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

New coupled cluster approaches based on the unrestricted Hartree-Fock reference for treating molecules with multireference character.

Authors :Shen J , Xu E , Kou Z , Li S

Published On :2011 May 21

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

Association of variants in the LIPC and ABCA1 genes with intermediate and large drusen and advanced age-related macular degeneration.

Authors :Yu Y , Reynolds R , Fagerness J , Rosner B , Daly MJ , Seddon JM

Published On :2011 Jun 28

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

A 9-month-old boy with seizures and discrepant urine tryptophan concentrations.

Authors :Ptolemy AS , Li Y , Sanderson T , Khwaja O , Berry GT , Kellogg M

Published On :2011 Apr

Case Reports Journal Article

Correction of murine β-thalassemia after minimal lentiviral gene transfer and homeostatic in vivo erythroid expansion.

Authors :Negre O , Fusil F , Colomb C , Roth S , Gillet-Legrand B , Henri A , Beuzard Y , Bushman F , Leboulch P , Payen E

Published On :2011 May 19

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

The yin and yang of blood transfusions in cardiac surgery.

Authors :Higgins RS

Published On :2011 Mar

Comment Journal Article

Presidential address: a bench by the road.

Authors :Higgins RS

Published On :2011 Apr

Address Historical Article

Evaluation of cell tracking effects for transplanted mesenchymal stem cells with jetPEI/Gd-DTPA complexes in animal models of hemorrhagic spinal cord injury.

Authors :Liu Y , He ZJ , Xu B , Wu QZ , Liu G , Zhu H , Zhong Q , Deng DY , Ai H , Yue Q , Wei Y , Jun S , Zhou G , Gong QY

Published On :2011 May 19

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

Simultaneous detection of cerebral metabolism of different substrates by in vivo ¹³C isotopomer MRS.

Authors :Xiang Y , Shen J

Published On :2011 May 15

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

Nine enzymes are required for assembly of the pacidamycin group of peptidyl nucleoside antibiotics.

Authors :Zhang W , Ntai I , Bolla ML , Malcolmson SJ , Kahne D , Kelleher NL , Walsh CT

Published On :2011 Apr 13

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

A method to sequence and quantify DNA integration for monitoring outcome in gene therapy.

Authors :Brady T , Roth SL , Malani N , Wang GP , Berry CC , Leboulch P , Hacein-Bey-Abina S , Cavazzana-Calvo M , Papapetrou EP , Sadelain M , Savilahti H , Bushman FD

Published On :2011 Jun

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

Sensitive isotope dilution liquid chromatography/tandem mass spectrometry method for quantitative analysis of bumetanide in serum and brain tissue.

Authors :Li Y , Cleary R , Kellogg M , Soul JS , Berry GT , Jensen FE

Published On :2011 Apr 15

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