Publications | International Center for Genetic Disease at Harvard Medical School

Spectra, energy levels, and energy transition of lanthanide complexes with cinnamic acid and its derivatives.

Authors :Zhou K , Feng Z , Shen J , Wu B , Luo X , Jiang S , Li L , Zhou X

Published On :2016 Apr 5

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

Consent Codes: Upholding Standard Data Use Conditions.

Authors :Dyke SO , Philippakis AA , Rambla De Argila J , Paltoo DN , Luetkemeier ES , Knoppers BM , Brookes AJ , Spalding JD , Thompson M , Roos M , Boycott KM , Brudno M , Hurles M , Rehm HL , Matern A , Fiume M , Sherry ST

Published On :2016 Jan

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

Quantifying prion disease penetrance using large population control cohorts.

Authors :Minikel EV , Vallabh SM , Lek M , Estrada K , Samocha KE , Sathirapongsasuti JF , McLean CY , Tung JY , Yu LP , Gambetti P , Blevins J , Zhang S , Cohen Y , Chen W , Yamada M , Hamaguchi T , Sanjo N , Mizusawa H , Nakamura Y , Kitamoto T , Collins SJ , Boyd A , Will RG , Knight R , Ponto C , Zerr I , Kraus TF , Eigenbrod S , Giese A , Calero M , de Pedro-Cuesta J , Haïk S , Laplanche JL , Bouaziz-Amar E , Brandel JP , Capellari S , Parchi P , Poleggi A , Ladogana A , O'Donnell-Luria AH , Karczewski KJ , Marshall JL , Boehnke M , Laakso M , Mohlke KL , Kähler A , Chambert K , McCarroll S , Sullivan PF , Hultman CM , Purcell SM , Sklar P , van der Lee SJ , Rozemuller A , Jansen C , Hofman A , Kraaij R , van Rooij JG , Ikram MA , Uitterlinden AG , van Duijn CM , Exome Aggregation Consortium (ExAC) , Daly MJ , MacArthur DG

Published On :2016 Jan 20

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. Research Support, U.S. Gov't, P.H.S.

Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society.

Authors :Oetting WS , Brenner SE , Brookes AJ , Greenblatt MS , Hart RK , Karchin R , Sunyaev SR , Taschner PE

Published On :2016 Apr

Conference Proceedings Research Support, N.I.H., Extramural

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

Authors :Homsy J , Zaidi S , Shen Y , Ware JS , Samocha KE , Karczewski KJ , DePalma SR , McKean D , Wakimoto H , Gorham J , Jin SC , Deanfield J , Giardini A , Porter GA Jr , Kim R , Bilguvar K , López-Giráldez F , Tikhonova I , Mane S , Romano-Adesman A , Qi H , Vardarajan B , Ma L , Daly M , Roberts AE , Russell MW , Mital S , Newburger JW , Gaynor JW , Breitbart RE , Iossifov I , Ronemus M , Sanders SJ , Kaltman JR , Seidman JG , Brueckner M , Gelb BD , Goldmuntz E , Lifton RP , Seidman CE , Chung WK

Published On :2015 Dec 4

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

Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblasts.

Authors :Balakrishnan B , Chen W , Tang M , Huang X , Cakici DD , Siddiqi A , Berry G , Lai K

Published On :2016 Jan 29

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

Gyrase Mutations Are Associated with Variable Levels of Fluoroquinolone Resistance in Mycobacterium tuberculosis.

Authors :Farhat MR , Jacobson KR , Franke MF , Kaur D , Sloutsky A , Mitnick CD , Murray M

Published On :2016 Mar

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

Training the Future Leaders in Personalized Medicine.

Authors :Mason-Suares H , Sweetser DA , Lindeman NI , Morton CC

Published On :2016 Jan 7

Journal Article

Liquid plasticine: controlled deformation and recovery of droplets with interfacial nanoparticle jamming.

Authors :Li X , Xue Y , Lv P , Lin H , Du F , Hu Y , Shen J , Duan H

Published On :2016 Feb 14

Journal Article

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.

Authors :Mlynarski EE , Xie M , Taylor D , Sheridan MB , Guo T , Racedo SE , McDonald-McGinn DM , Chow EW , Vorstman J , Swillen A , Devriendt K , Breckpot J , Digilio MC , Marino B , Dallapiccola B , Philip N , Simon TJ , Roberts AE , Piotrowicz M , Bearden CE , Eliez S , Gothelf D , Coleman K , Kates WR , Devoto M , Zackai E , Heine-Suñer D , Goldmuntz E , Bassett AS , Morrow BE , Emanuel BS , International Chromosome 22q11.2 Consortium

Published On :2016 Mar

Journal Article Research Support, N.I.H., Extramural

Goldie Brangman Remembers the Operation to Save Dr King.

Authors :Koch E , Brangman G

Published On :2015 Dec

Biography Historical Article Journal Article Portrait

Development of a physiologically based pharmacokinetic model of actinomycin D in children with cancer.

Authors :Walsh C , Bonner JJ , Johnson TN , Neuhoff S , Ghazaly EA , Gribben JG , Boddy AV , Veal GJ

Published On :2016 May

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

Ligustilide treatment promotes functional recovery in a rat model of spinal cord injury via preventing ROS production.

Authors :Xiao W , Yu A , Liu D , Shen J , Xu Z

Published On :2015

Journal Article

Successful heart transplantation using a donor heart afflicted by takotsubo cardiomyopathy.

Authors :Ravi Y , Campagna R , Rosas PC , Essa E , Hasan AK , Higgins RS , Emani S , Sai-Sudhakar CB

Published On :2016 Jan

Case Reports Journal Article

In vivo gene editing in dystrophic mouse muscle and muscle stem cells.

Authors :Tabebordbar M , Zhu K , Cheng JKW , Chew WL , Widrick JJ , Yan WX , Maesner C , Wu EY , Xiao R , Ran FA , Cong L , Zhang F , Vandenberghe LH , Church GM , Wagers AJ

Published On :2016 Jan 22

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.