Publications | International Center for Genetic Disease at Harvard Medical School

Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.

Authors :Haghighi A , Masri A , Kornreich R , Desnick RJ

Published On :2011 Dec

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

Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.

Authors :Ben-Omran T , Ali R , Almureikhi M , Alameer S , Al-Saffar M , Walsh CA , Felie JM , Teebi A

Published On :2011 Nov

Case Reports Comparative Study Journal Article

Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets.

Authors :Hu X , Kim H , Stahl E , Plenge R , Daly M , Raychaudhuri S

Published On :2011 Oct 7

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

Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors.

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

Published On :2011 Nov

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

Dihydrophenylalanine: a prephenate-derived Photorhabdus luminescens antibiotic and intermediate in dihydrostilbene biosynthesis.

Authors :Crawford JM , Mahlstedt SA , Malcolmson SJ , Clardy J , Walsh CT

Published On :2011 Sep 23

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

[Application of HHT to driving fatigue in EEG analysis].

Authors :Nan J , Ai L , Shen J

Published On :2011 Aug

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

Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.

Authors :Dewey FE , Chen R , Cordero SP , Ormond KE , Caleshu C , Karczewski KJ , Whirl-Carrillo M , Wheeler MT , Dudley JT , Byrnes JK , Cornejo OE , Knowles JW , Woon M , Sangkuhl K , Gong L , Thorn CF , Hebert JM , Capriotti E , David SP , Pavlovic A , West A , Thakuria JV , Ball MP , Zaranek AW , Rehm HL , Church GM , West JS , Bustamante CD , Snyder M , Altman RB , Klein TE , Butte AJ , Ashley EA

Published On :2011 Sep

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

Immobilization and chromatographic evaluation of novel regioselectively substituted amylose-based chiral packing materials for HPLC.

Authors :Shen J , Li P , Liu S , Shen X , Okamoto Y

Published On :2011 Nov

Journal Article

Computational and statistical approaches to analyzing variants identified by exome sequencing.

Authors :Stitziel NO , Kiezun A , Sunyaev S

Published On :2011 Sep 14

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

The functional spectrum of low-frequency coding variation.

Authors :Marth GT , Yu F , Indap AR , Garimella K , Gravel S , Leong WF , Tyler-Smith C , Bainbridge M , Blackwell T , Zheng-Bradley X , Chen Y , Challis D , Clarke L , Ball EV , Cibulskis K , Cooper DN , Fulton B , Hartl C , Koboldt D , Muzny D , Smith R , Sougnez C , Stewart C , Ward A , Yu J , Xue Y , Altshuler D , Bustamante CD , Clark AG , Daly M , DePristo M , Flicek P , Gabriel S , Mardis E , Palotie A , Gibbs R , 1000 Genomes Project

Published On :2011 Sep 14

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

Complexity generation in fungal peptidyl alkaloid biosynthesis: oxidation of fumiquinazoline A to the heptacyclic hemiaminal fumiquinazoline C by the flavoenzyme Af12070 from Aspergillus fumigatus.

Authors :Ames BD , Haynes SW , Gao X , Evans BS , Kelleher NL , Tang Y , Walsh CT

Published On :2011 Oct 11

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

NRPS substrate promiscuity diversifies the xenematides.

Authors :Crawford JM , Portmann C , Kontnik R , Walsh CT , Clardy J

Published On :2011 Oct 7

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

Synthesis of carboxymethylated and quaternized chitosans and their therapeutic effect on nonalcoholic Fatty liver disease.

Authors :Liu X , Yang F , Song T , Zeng A , Wang Q , Sun Z , Shen J

Published On :2011 Oct 12

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

A facile two-step dipping process based on two silica systems for a superhydrophobic surface.

Authors :Li X , Shen J

Published On :2011 Oct 14

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

Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe).

Authors :Sobrin L , Green T , Sim X , Jensen RA , Tai ES , Tay WT , Wang JJ , Mitchell P , Sandholm N , Liu Y , Hietala K , Iyengar SK , Family Investigation of Nephropathy and Diabetes-Eye Research Group , Brooks M , Buraczynska M , Van Zuydam N , Smith AV , Gudnason V , Doney AS , Morris AD , Leese GP , Palmer CN , Wellcome Trust Case Control Consortium 2 , Swaroop A , Taylor HA Jr , Wilson JG , Penman A , Chen CJ , Groop PH , Saw SM , Aung T , Klein BE , Rotter JI , Siscovick DS , Cotch MF , Klein R , Daly MJ , Wong TY

Published On :2011 Sep 29

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