Publications | International Center for Genetic Disease at Harvard Medical School

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.

Authors :Yu Y , Triebwasser MP , Wong EK , Schramm EC , Thomas B , Reynolds R , Mardis ER , Atkinson JP , Daly M , Raychaudhuri S , Kavanagh D , Seddon JM

Published On :2014 Oct 1

Journal Article

Radiation-induced brachial plexus injury after radiotherapy for nasopharyngeal carcinoma.

Authors :Gu B , Yang Z , Huang S , Xiao S , Zhang B , Yang L , Zhao J , Zhao Z , Shen J , Liu J

Published On :2014 Aug

Journal Article

Fever in sickle cell disease patients in the Kingdom of Bahrain.

Authors :Al Salman J , Al Agha RA , Al Taitoon S , Al Arrayed A

Published On :2014 Jul-Aug

Journal Article

Recent progress in engineering human-associated microbiomes.

Authors :Yaung SJ , Church GM , Wang HH

Published On :2014

Journal Article

Dithiolopyrrolones: biosynthesis, synthesis, and activity of a unique class of disulfide-containing antibiotics.

Authors :Li B , Wever WJ , Walsh CT , Bowers AA

Published On :2014 Jul

Journal Article Review

Atg16L1 T300A variant decreases selective autophagy resulting in altered cytokine signaling and decreased antibacterial defense.

Authors :Lassen KG , Kuballa P , Conway KL , Patel KK , Becker CE , Peloquin JM , Villablanca EJ , Norman JM , Liu TC , Heath RJ , Becker ML , Fagbami L , Horn H , Mercer J , Yilmaz OH , Jaffe JD , Shamji AF , Bhan AK , Carr SA , Daly MJ , Virgin HW , Schreiber SL , Stappenbeck TS , Xavier RJ

Published On :2014 May 27

Journal Article

Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.

Authors :Chaste P , Sanders SJ , Mohan KN , Klei L , Song Y , Murtha MT , Hus V , Lowe JK , Willsey AJ , Moreno-De-Luca D , Yu TW , Fombonne E , Geschwind D , Grice DE , Ledbetter DH , Lord C , Mane SM , Martin DM , Morrow EM , Walsh CA , Sutcliffe JS , State MW , Martin CL , Devlin B , Beaudet AL , Cook EH Jr , Kim SJ

Published On :2014 Jun

Journal Article

Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies.

Authors :Wang G , McCain ML , Yang L , He A , Pasqualini FS , Agarwal A , Yuan H , Jiang D , Zhang D , Zangi L , Geva J , Roberts AE , Ma Q , Ding J , Chen J , Wang DZ , Li K , Wang J , Wanders RJ , Kulik W , Vaz FM , Laflamme MA , Murry CE , Chien KR , Kelley RI , Church GM , Parker KK , Pu WT

Published On :2014 Jun

Journal Article

Copy number variation plays an important role in clinical epilepsy.

Authors :Olson H , Shen Y , Avallone J , Sheidley BR , Pinsky R , Bergin AM , Berry GT , Duffy FH , Eksioglu Y , Harris DJ , Hisama FM , Ho E , Irons M , Jacobsen CM , James P , Kothare S , Khwaja O , Lipton J , Loddenkemper T , Markowitz J , Maski K , Megerian JT , Neilan E , Raffalli PC , Robbins M , Roberts A , Roe E , Rollins C , Sahin M , Sarco D , Schonwald A , Smith SE , Soul J , Stoler JM , Takeoka M , Tan WH , Torres AR , Tsai P , Urion DK , Weissman L , Wolff R , Wu BL , Miller DT , Poduri A

Published On :2014 Jun

Journal Article