Publications | International Center for Genetic Disease at Harvard Medical School

SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.

Authors :Musa H , Kline CF , Sturm AC , Murphy N , Adelman S , Wang C , Yan H , Johnson BL , Csepe TA , Kilic A , Higgins RS , Janssen PM , Fedorov VV , Weiss R , Salazar C , Hund TJ , Pitt GS , Mohler PJ

Published On :2015 Oct 6

Journal Article

Cardiomyopathies in Noonan syndrome and the other RASopathies.

Authors :Gelb BD , Roberts AE , Tartaglia M

Published On :2015 Jul 1

Journal Article

Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.

Authors :Wang T , Xu C , Zhou X , Li C , Zhang H , Lian BQ , Lee JJ , Shen J , Liu Y , Lian CG

Published On :2015 Sep 9

Journal Article

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.

Authors :Faden M , AlZahrani F , Mendoza-Londono R , Dupuis L , Hartley T , Kannu P , Raiman JA , Howard A , Qin W , Tetreault M , Xi JQ , Al-Thamer I , Care4Rare Canada Consortium , Maas RL , Boycott K , Alkuraya FS

Published On :2015 Oct 1

Journal Article

Simultaneous quantification of glutamate and glutamine by J-modulated spectroscopy at 3 Tesla.

Authors :Zhang Y , Shen J

Published On :2016 Sep

Journal Article

Phenotypic extremes in rare variant study designs.

Authors :Peloso GM , Rader DJ , Gabriel S , Kathiresan S , Daly MJ , Neale BM

Published On :2016 Jun

Journal Article

Cas9 gRNA engineering for genome editing, activation and repression.

Authors :Kiani S , Chavez A , Tuttle M , Hall RN , Chari R , Ter-Ovanesyan D , Qian J , Pruitt BW , Beal J , Vora S , Buchthal J , Kowal EJ , Ebrahimkhani MR , Collins JJ , Weiss R , Church G

Published On :2015 Nov

Journal Article

Erosion of the chronic myeloid leukaemia stem cell pool by PPARγ agonists.

Authors :Prost S , Relouzat F , Spentchian M , Ouzegdouh Y , Saliba J , Massonnet G , Beressi JP , Verhoeyen E , Raggueneau V , Maneglier B , Castaigne S , Chomienne C , Chrétien S , Rousselot P , Leboulch P

Published On :2015 Sep 17

Journal Article

Image-guided spatial localization of heterogeneous compartments for magnetic resonance.

Authors :An L , Shen J

Published On :2015 Sep

Journal Article

Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck.

Authors :Balick DJ , Do R , Cassa CA , Reich D , Sunyaev SR

Published On :2015 Aug

Journal Article

HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.

Authors :Hinson JT , Chopra A , Nafissi N , Polacheck WJ , Benson CC , Swist S , Gorham J , Yang L , Schafer S , Sheng CC , Haghighi A , Homsy J , Hubner N , Church G , Cook SA , Linke WA , Chen CS , Seidman JG , Seidman CE

Published On :2015 Aug 28

Journal Article

Catalyst-Free, Selective Growth of ZnO Nanowires on SiO2 by Chemical Vapor Deposition for Transfer-Free Fabrication of UV Photodetectors.

Authors :Xu L , Li X , Zhan Z , Wang L , Feng S , Chai X , Lu W , Shen J , Weng Z , Sun J

Published On :2015 Sep 16

Journal Article

Molecular Mapping of Sinoatrial Node HCN Channel Expression in the Human Heart.

Authors :Li N , Csepe TA , Hansen BJ , Dobrzynski H , Higgins RS , Kilic A , Mohler PJ , Janssen PM , Rosen MR , Biesiadecki BJ , Fedorov VV

Published On :2015 Oct

Journal Article

Effects of electroacupuncture therapy for Bell's palsy from acute stage: study protocol for a randomized controlled trial.

Authors :Liu ZD , He JB , Guo SS , Yang ZX , Shen J , Li XY , Liang W , Shen WD

Published On :2015 Aug 25

Journal Article Randomized Controlled Trial

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication.

Authors :Kodani A , Yu TW , Johnson JR , Jayaraman D , Johnson TL , Al-Gazali L , Sztriha L , Partlow JN , Kim H , Krup AL , Dammermann A , Krogan NJ , Walsh CA , Reiter JF

Published On :2015 Aug 22

Journal Article