Publications | International Center for Genetic Disease at Harvard Medical School

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

Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.

Authors :Hildebrandt J , Yalcin E , Bresser HG , Cinel G , Gappa M , Haghighi A , Kiper N , Khalilzadeh S , Reiter K , Sayer J , Schwerk N , Sibbersen A , Van Daele S , Nübling G , Lohse P , Griese M

Published On :2014 Nov 26

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

Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes.

Authors :Hoehe MR , Church GM , Lehrach H , Kroslak T , Palczewski S , Nowick K , Schulz S , Suk EK , Huebsch T

Published On :2014 Nov 26

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

Different therapeutic approaches on quality of life in patients with inflammatory bowel disease.

Authors :Xu J , Lin H , Feng X , Tang M , Shen J , Ran Z

Published On :2014 Nov 25

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

Epigenetics and its role in periodontal diseases: a state-of-the-art review.

Authors :Larsson L , Castilho RM , Giannobile WV

Published On :2015 Apr

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

Multi-kilobase homozygous targeted gene replacement in human induced pluripotent stem cells.

Authors :Byrne SM , Ortiz L , Mali P , Aach J , Church GM

Published On :2015 Feb 18

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

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Authors :Consugar MB , Navarro-Gomez D , Place EM , Bujakowska KM , Sousa ME , Fonseca-Kelly ZD , Taub DG , Janessian M , Wang DY , Au ED , Sims KB , Sweetser DA , Fulton AB , Liu Q , Wiggs JL , Gai X , Pierce EA

Published On :2015 Apr

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