Publications | International Center for Genetic Disease at Harvard Medical School

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.

Authors :Duncan AR , Polovitskaya MM , Gaitán-Peñas H , Bertelli S , VanNoy GE , Grant PE , O'Donnell-Luria A , Valivullah Z , Lovgren AK , England EM , Agolini E , Madden JA , Schmitz-Abe K , Kritzer A , Hawley P , Novelli A , Alfieri P , Colafati GS , Wieczorek D , Platzer K , Luppe J , Koch-Hogrebe M , Abou Jamra R , Neira-Fresneda J , Lehman A , Boerkoel CF , Seath K , Clarke L , CAUSES Study , van Ierland Y , Argilli E , Sherr EH , Maiorana A , Diel T , Hempel M , Bierhals T , Estévez R , Jentsch TJ , Pusch M , Agrawal PB

Published On :2021 Aug 5

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

Gene editing in a Myo6 semi-dominant mouse model rescues auditory function.

Authors :Xue Y , Hu X , Wang D , Li D , Li Y , Wang F , Huang M , Gu X , Xu Z , Zhou J , Wang J , Chai R , Shen J , Chen ZY , Li GL , Yang H , Li H , Zuo E , Shu Y

Published On :2022 Jan 5

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

The origin of human mutation in light of genomic data.

Authors :Seplyarskiy VB , Sunyaev S

Published On :2021 Oct

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

Early role for a Na(+),K(+)-ATPase (ATP1A3) in brain development.

Authors :Smith RS , Florio M , Akula SK , Neil JE , Wang Y , Hill RS , Goldman M , Mullally CD , Reed N , Bello-Espinosa L , Flores-Sarnat L , Monteiro FP , Erasmo CB , Pinto E Vairo F , Morava E , Barkovich AJ , Gonzalez-Heydrich J , Brownstein CA , McCarroll SA , Walsh CA

Published On :2021 Jun 22

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

Is Externally Corrected Coupled Cluster Always Better Than the Underlying Truncated Configuration Interaction?

Authors :Magoulas I , Gururangan K , Piecuch P , Deustua JE , Shen J

Published On :2021 Jul 13

Journal Article

Borate-driven ionic rectifiers based on sugar-bearing single nanochannels.

Authors :Cayón VM , Laucirica G , Toum Terrones Y , Cortez ML , Pérez-Mitta G , Shen J , Hess C , Toimil-Molares ME , Trautmann C , Marmisollé WA , Azzaroni O

Published On :2021 Jul 7

Journal Article

Pelvic Pain Alters Functional Connectivity Between Anterior Cingulate Cortex and Hippocampus in Both Humans and a Rat Model.

Authors :Yu W , Wu X , Chen Y , Liang Z , Jiang J , Misrani A , Su Y , Peng Y , Chen J , Tang B , Sun M , Long C , Shen J , Yang L

Published On :2021

Journal Article

Establishment and Characterization of a HER2-Positive Cell Line Derived From the Pleural Effusion of a Drug-Resistant Breast Cancer Patient.

Authors :Li Z , Zhuo W , Chen L , Zhang X , Chen C , Hu D , Chen Y , Yang J , Zhou Y , Mao M , Xu L , Ju S , Shen J , Wang Q , Dong M , Xie S , Zhou J , Wang L

Published On :2021

Journal Article

Research on Geriatric Care for Equalizing the Topological Layout of Health Care Infrastructure Networks.

Authors :Liu R , Du M , Shen J , Wang X , Jiang Y

Published On :2021

Journal Article

Distinguishing nontuberculous mycobacteria from Mycobacterium tuberculosis lung disease from CT images using a deep learning framework.

Authors :Wang L , Ding W , Mo Y , Shi D , Zhang S , Zhong L , Wang K , Wang J , Huang C , Zhang S , Ye Z , Shen J , Xing Z

Published On :2021 Dec

Journal Article

Promoting cross-regional collaboration in antimicrobial stewardship: Findings of an infectious diseases working group survey in Arab countries of the Middle East.

Authors :Al Salman J , Al Dabal L , Bassetti M , Alfouzan WA , Al Maslamani M , Alraddadi B , Elhoufi A , Khamis F , Mokkadas E , Romany I , Enani M , Somily A , Kanj SS

Published On :2021 Jul

Journal Article

Deep Learning to Predict Cardiac Magnetic Resonance-Derived Left Ventricular Mass and Hypertrophy From 12-Lead ECGs.

Authors :Khurshid S , Friedman S , Pirruccello JP , Di Achille P , Diamant N , Anderson CD , Ellinor PT , Batra P , Ho JE , Philippakis AA , Lubitz SA

Published On :2021 Jun

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

General practitioners' knowledge about pregnancy complications associated with long-term cardiovascular risk.

Authors :Lumbreras-Márquez MI , Torre-León MA , Hernández-Reguero JL , Wilkins-Haug LE , Seely EW

Published On :2021

Journal Article

PLAC8 promotes adriamycin resistance via blocking autophagy in breast cancer.

Authors :Chen Y , Jia Y , Mao M , Gu Y , Xu C , Yang J , Hu W , Shen J , Hu D , Chen C , Li Z , Chen L , Ruan J , Shen P , Zhou J , Wei Q , Wang L

Published On :2021 Jul

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

Nutrition status of adults with phenylketonuria treated with pegvaliase.

Authors :Viau K , Wessel A , Martell L , Sacharow S , Rohr F

Published On :2021 Aug

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