Publications | International Center for Genetic Disease at Harvard Medical School

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

Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning.

Authors :Bae BI , Tietjen I , Atabay KD , Evrony GD , Johnson MB , Asare E , Wang PP , Murayama AY , Im K , Lisgo SN , Overman L , Šestan N , Chang BS , Barkovich AJ , Grant PE , Topçu M , Politsky J , Okano H , Piao X , Walsh CA

Published On :2014 Feb 14

Journal Article

Recoding the genetic code with selenocysteine.

Authors :Bröcker MJ , Ho JM , Church GM , Söll D , O'Donoghue P

Published On :2014 Jan 3

Journal Article

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Authors :Reiff RE , Ali BR , Baron B , Yu TW , Ben-Salem S , Coulter ME , Schubert CR , Hill RS , Akawi NA , Al-Younes B , Kaya N , Evrony GD , Al-Saffar M , Felie JM , Partlow JN , Sunu CM , Schembri-Wismayer P , Alkuraya FS , Meyer BF , Walsh CA , Al-Gazali L , Mochida GH

Published On :2014 Jul 1

Journal Article