Publications | International Center for Genetic Disease at Harvard Medical School

A bacterial strain with a unique quadruplet codon specifying non-native amino acids.

Authors :Chatterjee A , Lajoie MJ , Xiao H , Church GM , Schultz PG

Published On :2014 Aug 18

Journal Article

Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney.

Authors :Zsengellér ZK , Aljinovic N , Teot LA , Korson M , Rodig N , Sloan JL , Venditti CP , Berry GT , Rosen S

Published On :2014 Nov

Journal Article

CHOPCHOP: a CRISPR/Cas9 and TALEN web tool for genome editing.

Authors :Montague TG , Cruz JM , Gagnon JA , Church GM , Valen E

Published On :2014 Jul

Journal Article

Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.

Authors :Gupta AR , Pirruccello M , Cheng F , Kang HJ , Fernandez TV , Baskin JM , Choi M , Liu L , Ercan-Sencicek AG , Murdoch JD , Klei L , Neale BM , Franjic D , Daly MJ , Lifton RP , De Camilli P , Zhao H , Sestan N , State MW

Published On :2014

Journal Article

A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia.

Authors :Van Calcar SC , Bernstein LE , Rohr FJ , Scaman CH , Yannicelli S , Berry GT

Published On :2014 Jul

Journal Article Meta-Analysis Review

Direct mutagenesis of thousands of genomic targets using microarray-derived oligonucleotides.

Authors :Bonde MT , Kosuri S , Genee HJ , Sarup-Lytzen K , Church GM , Sommer MO , Wang HH

Published On :2015 Jan 16

Letter

Enhanced negative thermal expansion in La(1-x)Pr(x)Fe10.7Co0.8Si1.5 compounds by doping the magnetic rare-earth element praseodymium.

Authors :Li W , Huang R , Wang W , Tan J , Zhao Y , Li S , Huang C , Shen J , Li L

Published On :2014 Jun 2

Journal Article

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