Publications | International Center for Genetic Disease at Harvard Medical School

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.

Authors :Geng J , Picker J , Zheng Z , Zhang X , Wang J , Hisama F , Brown DW , Mullen MP , Harris D , Stoler J , Seman A , Miller DT , Fu Q , Roberts AE , Shen Y

Published On :2014 Dec 17

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

C-MYC transcriptionally amplifies SOX2 target genes to regulate self-renewal in multipotent otic progenitor cells.

Authors :Kwan KY , Shen J , Corey DP

Published On :2015 Jan 13

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

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

Authors :Do R , Stitziel NO , Won HH , Jørgensen AB , Duga S , Angelica Merlini P , Kiezun A , Farrall M , Goel A , Zuk O , Guella I , Asselta R , Lange LA , Peloso GM , Auer PL , NHLBI Exome Sequencing Project , Girelli D , Martinelli N , Farlow DN , DePristo MA , Roberts R , Stewart AF , Saleheen D , Danesh J , Epstein SE , Sivapalaratnam S , Hovingh GK , Kastelein JJ , Samani NJ , Schunkert H , Erdmann J , Shah SH , Kraus WE , Davies R , Nikpay M , Johansen CT , Wang J , Hegele RA , Hechter E , Marz W , Kleber ME , Huang J , Johnson AD , Li M , Burke GL , Gross M , Liu Y , Assimes TL , Heiss G , Lange EM , Folsom AR , Taylor HA , Olivieri O , Hamsten A , Clarke R , Reilly DF , Yin W , Rivas MA , Donnelly P , Rossouw JE , Psaty BM , Herrington DM , Wilson JG , Rich SS , Bamshad MJ , Tracy RP , Cupples LA , Rader DJ , Reilly MP , Spertus JA , Cresci S , Hartiala J , Tang WH , Hazen SL , Allayee H , Reiner AP , Carlson CS , Kooperberg C , Jackson RD , Boerwinkle E , Lander ES , Schwartz SM , Siscovick DS , McPherson R , Tybjaerg-Hansen A , Abecasis GR , Watkins H , Nickerson DA , Ardissino D , Sunyaev SR , O'Donnell CJ , Altshuler D , Gabriel S , Kathiresan S

Published On :2015 Feb 5

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

A phylogeny-based sampling strategy and power calculator informs genome-wide associations study design for microbial pathogens.

Authors :Farhat MR , Shapiro BJ , Sheppard SK , Colijn C , Murray M

Published On :2014

Journal Article

Accurate whole genome sequencing as the ultimate genetic test.

Authors :Drmanac R , Peters BA , Church GM , Reid CA , Xu X

Published On :2015 Jan

Journal Article

CT and MR findings in 16 cases of primary neuroendocrine carcinoma in the otolaryngeal region.

Authors :Zhou C , Duan X , Liao D , Liao J , Shen J

Published On :2015 Mar-Apr

Journal Article

Muscle wasting and early mobilization in acute respiratory distress syndrome.

Authors :Walsh CJ , Batt J , Herridge MS , Dos Santos CC

Published On :2014 Dec

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

Evolution-guided optimization of biosynthetic pathways.

Authors :Raman S , Rogers JK , Taylor ND , Church GM

Published On :2014 Dec 16

Journal Article

The association of chronic lung disease with early mortality and respiratory adverse events after aortic valve replacement.

Authors :Crestanello JA , Higgins RS , He X , Saha-Chaudhuri P , Englum BR , Brennan JM , Thourani VH

Published On :2014 Dec

Journal Article Multicenter Study

Claudin-5 levels are reduced from multiple cell types in human failing hearts and are associated with mislocalization of ephrin-B1.

Authors :Swager SA , Delfín DA , Rastogi N , Wang H , Canan BD , Fedorov VV , Mohler PJ , Kilic A , Higgins RSD , Ziolo MT , Janssen PML , Rafael-Fortney JA

Published On :2015 May-Jun

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

Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases.

Authors :Gusev A , Lee SH , Trynka G , Finucane H , Vilhjálmsson BJ , Xu H , Zang C , Ripke S , Bulik-Sullivan B , Stahl E , Schizophrenia Working Group of the Psychiatric Genomics Consortium , SWE-SCZ Consortium , Kähler AK , Hultman CM , Purcell SM , McCarroll SA , Daly M , Pasaniuc B , Sullivan PF , Neale BM , Wray NR , Raychaudhuri S , Price AL , Schizophrenia Working Group of the Psychiatric Genomics Consortium , SWE-SCZ Consortium

Published On :2014 Nov 6

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

A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.

Authors :Lim ET , Liu YP , Chan Y , Tiinamaija T , Käräjämäki A , Madsen E , Go-T2D Consortium , Altshuler DM , Raychaudhuri S , Groop L , Flannick J , Hirschhorn JN , Katsanis N , Daly MJ

Published On :2014 Nov 6

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

Preclinical evaluation of efficacy and safety of an improved lentiviral vector for the treatment of β-thalassemia and sickle cell disease.

Authors :Negre O , Bartholomae C , Beuzard Y , Cavazzana M , Christiansen L , Courne C , Deichmann A , Denaro M , de Dreuzy E , Finer M , Fronza R , Gillet-Legrand B , Joubert C , Kutner R , Leboulch P , Maouche L , Paulard A , Pierciey FJ , Rothe M , Ryu B , Schmidt M , von Kalle C , Payen E , Veres G

Published On :2015

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

Menkes disease in affected females: the clinical disease spectrum.

Authors :Smpokou P , Samanta M , Berry GT , Hecht L , Engle EC , Lichter-Konecki U

Published On :2015 Feb

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

Targeted and genome-wide sequencing reveal single nucleotide variations impacting specificity of Cas9 in human stem cells.

Authors :Yang L , Grishin D , Wang G , Aach J , Zhang CZ , Chari R , Homsy J , Cai X , Zhao Y , Fan JB , Seidman C , Seidman J , Pu W , Church G

Published On :2014 Nov 26

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