Publications | International Center for Genetic Disease at Harvard Medical School

Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.

Authors :Masri A , Liao J , Kornreich R , Haghighi A

Published On :2014 May

Journal Article

Co-ordination between BrlA regulation and secretion of the oxidoreductase FmqD directs selective accumulation of fumiquinazoline C to conidial tissues in Aspergillus fumigatus.

Authors :Lim FY , Ames B , Walsh CT , Keller NP

Published On :2014 Aug

Journal Article

An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.

Authors :Chan Y , Lim ET , Sandholm N , Wang SR , McKnight AJ , Ripke S , DIAGRAM Consortium , GENIE Consortium , GIANT Consortium , IIBDGC Consortium , PGC Consortium , Daly MJ , Neale BM , Salem RM , Hirschhorn JN

Published On :2014 Mar 6

Journal Article

SLC25A22 is a novel gene for migrating partial seizures in infancy.

Authors :Poduri A , Heinzen EL , Chitsazzadeh V , Lasorsa FM , Elhosary PC , LaCoursiere CM , Martin E , Yuskaitis CJ , Hill RS , Atabay KD , Barry B , Partlow JN , Bashiri FA , Zeidan RM , Elmalik SA , Kabiraj MM , Kothare S , Stödberg T , McTague A , Kurian MA , Scheffer IE , Barkovich AJ , Palmieri F , Salih MA , Walsh CA

Published On :2013 Dec

Journal Article

KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitability.

Authors :Abbott GW , Tai KK , Neverisky DL , Hansler A , Hu Z , Roepke TK , Lerner DJ , Chen Q , Liu L , Zupan B , Toth M , Haynes R , Huang X , Demirbas D , Buccafusca R , Gross SS , Kanda VA , Berry GT

Published On :2014 Mar 4

Journal Article

Detection of glutamate, glutamine, and glutathione by radiofrequency suppression and echo time optimization at 7 tesla.

Authors :An L , Li S , Murdoch JB , Araneta MF , Johnson C , Shen J

Published On :2015 Feb

Journal Article

The looking to the future medical student program: recruiting tomorrow's leaders.

Authors :Reddy RM , Kim AW , Cooke DT , Yang SC , Vaporciyan A , Higgins RS

Published On :2014 Mar

Editorial

Abstract 14: requirement of specc1lb in facial prominence integration and formation of the lower jaw.

Authors :Gfrerer L , Shubinets V , Nguyen C , Morton CC , Maas RL , Liao EC

Published On :2014 Mar

Journal Article

Raw data: access to inaccuracy--response.

Authors :Lunshof JE , Church GM , Prainsack B

Published On :2014 Feb 28

Letter Comment

Highly multiplexed subcellular RNA sequencing in situ.

Authors :Lee JH , Daugharthy ER , Scheiman J , Kalhor R , Yang JL , Ferrante TC , Terry R , Jeanty SS , Li C , Amamoto R , Peters DT , Turczyk BM , Marblestone AH , Inverso SA , Bernard A , Mali P , Rios X , Aach J , Church GM

Published On :2014 Mar 21

Journal Article

Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers.

Authors :Li Y , Huang X , Harmonay L , Liu Y , Kellogg MD , Fridovich-Keil JL , Berry GT

Published On :2014 May

Journal Article

MR imaging and T2 measurements in peripheral nerve repair with activation of Toll-like receptor 4 of neurotmesis.

Authors :Zhang X , Zhang F , Lu L , Li H , Wen X , Shen J

Published On :2014 May

Journal Article

CRISPR-Cas-mediated targeted genome editing in human cells.

Authors :Yang L , Mali P , Kim-Kiselak C , Church G

Published On :2014

Journal Article

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

Authors :Joshi M , Eagan J , Desai NK , Newton SA , Towne MC , Marinakis NS , Esteves KM , De Ferranti S , Bennett MJ , McIntyre A , Beggs AH , Berry GT , Agrawal PB

Published On :2014 Oct

Journal Article

Cardiovascular disease in Noonan syndrome.

Authors :Prendiville TW , Gauvreau K , Tworog-Dube E , Patkin L , Kucherlapati RS , Roberts AE , Lacro RV

Published On :2014 Jul

Journal Article