Publications | International Center for Genetic Disease at Harvard Medical School

Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate.

Authors :Jayaraman D , Kodani A , Gonzalez DM , Mancias JD , Mochida GH , Vagnoni C , Johnson J , Krogan N , Harper JW , Reiter JF , Yu TW , Bae BI , Walsh CA

Published On :2016 Nov 23

Journal Article

Case 34-2016. A 17-Year-Old Boy with Myopia and Craniofacial and Skeletal Abnormalities.

Authors :Sweetser DA , Lin AE , Troulis MJ , Chen TC , Westra SJ

Published On :2016 Nov 10

Case Reports Clinical Conference Journal Article

Reconstruction of randomly under-sampled spectra for in vivo(13)C magnetic resonance spectroscopy.

Authors :Li N , Li S , Shen J

Published On :2017 Apr

Journal Article

Personal Genomic Testing for Cancer Risk: Results From the Impact of Personal Genomics Study.

Authors :Gray SW , Gollust SE , Carere DA , Chen CA , Cronin A , Kalia SS , Rana HQ , Ruffin MT 4th , Wang C , Roberts JS , Green RC

Published On :2017 Feb 20

Journal Article

Oxidative Cyclization in Natural Product Biosynthesis.

Authors :Tang MC , Zou Y , Watanabe K , Walsh CT , Tang Y

Published On :2017 Apr 26

Journal Article Review

Exploring the motivations of patients with type 2 diabetes to participate in clinical trials: a qualitative analysis.

Authors :Estcourt S , Epton J , Epton T , Vaidya B , Daly M

Published On :2016

Journal Article

Efficient, footprint-free human iPSC genome editing by consolidation of Cas9/CRISPR and piggyBac technologies.

Authors :Wang G , Yang L , Grishin D , Rios X , Ye LY , Hu Y , Li K , Zhang D , Church GM , Pu WT

Published On :2017 Jan

Journal Article

Associations between iodine intake, thyroid volume, and goiter rate in school-aged Chinese children from areas with high iodine drinking water concentrations.

Authors :Chen W , Li X , Wu Y , Bian J , Shen J , Jiang W , Tan L , Wang X , Wang W , Pearce EN , Zimmermann MB , Carriquiry AL , Zhang W

Published On :2017 Jan

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

Rapidly evolving homing CRISPR barcodes.

Authors :Kalhor R , Mali P , Church GM

Published On :2017 Feb

Journal Article

Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.

Authors :Huang X , Bedoyan JK , Demirbas D , Harris DJ , Miron A , Edelheit S , Grahame G , DeBrosse SD , Wong LJ , Hoppel CL , Kerr DS , Anselm I , Berry GT

Published On :2017 Mar

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

Hematopoietic stem cell transplantation for people with ß-thalassaemia major.

Authors :Jagannath VA , Fedorowicz Z , Al Hajeri A , Sharma A

Published On :2016 Nov 30

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

The ExAC browser: displaying reference data information from over 60 000 exomes.

Authors :Karczewski KJ , Weisburd B , Thomas B , Solomonson M , Ruderfer DM , Kavanagh D , Hamamsy T , Lek M , Samocha KE , Cummings BB , Birnbaum D , The Exome Aggregation Consortium , Daly MJ , MacArthur DG

Published On :2017 Jan 4

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

Cerebral cortical neuron diversity and development at single-cell resolution.

Authors :Johnson MB , Walsh CA

Published On :2017 Feb

Journal Article Review

An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes.

Authors :Cho YS , Kim H , Kim HM , Jho S , Jun J , Lee YJ , Chae KS , Kim CG , Kim S , Eriksson A , Edwards JS , Lee S , Kim BC , Manica A , Oh TK , Church GM , Bhak J

Published On :2016 Nov 24

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

Anti-Inflammatory Effects of Chloranthalactone B in LPS-Stimulated RAW264.7 Cells.

Authors :Li X , Shen J , Jiang Y , Shen T , You L , Sun X , Xu X , Hu W , Wu H , Wang G

Published On :2016 Nov 22

Journal Article