Publications | International Center for Genetic Disease at Harvard Medical School

Novel Truncating and Missense Variants in SEMA6B in Patients With Early-Onset Epilepsy.

Authors :Xiaozhen S , Fan Y , Fang Y , Xiaoping L , Jia J , Wuhen X , Xiaojun T , Jun S , Yucai C , Hong Z , Guang H , Shengnan W

Published On :2021

Journal Article

Inter-episodes earthquake migration in the Bohai-Zhangjiakou Fault Zone, North China: Insights from numerical modeling.

Authors :Shao B , Hou G , Shen J

Published On :2021

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

Abnormal Right-Hemispheric Sulcal Patterns Correlate with Executive Function in Adolescents with Tetralogy of Fallot.

Authors :Morton SU , Maleyeff L , Wypij D , Yun HJ , Rollins CK , Watson CG , Newburger JW , Bellinger DC , Roberts AE , Rivkin MJ , Grant PE , Im K

Published On :2021 Aug 26

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

Dynamic network topological properties for classifying primary dysmenorrhoea in the pain-free phase.

Authors :Wu X , Yu W , Hu H , Su Y , Liang Z , Bai Z , Tian X , Yang L , Shen J

Published On :2021 Oct

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

16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro.

Authors :Sundberg M , Pinson H , Smith RS , Winden KD , Venugopal P , Tai DJC , Gusella JF , Talkowski ME , Walsh CA , Tegmark M , Sahin M

Published On :2021 May 18

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

Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach.

Authors :Jee H , Huang Z , Baxter S , Huang Y , Taylor ML , Henderson LA , Rosenzweig S , Sharma A , Chambers EP , Hershfield MS , Zhou Q , Dedeoglu F , Aksentijevich I , Nigrovic PA , O'Donnell-Luria A , Lee PY

Published On :2022 Jan

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

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.

Authors :Dias C , Pfundt R , Kleefstra T , Shuurs-Hoeijmakers J , Boon EMJ , van Hagen JM , Zwijnenburg P , Weiss MM , Keren B , Mignot C , Isapof A , Weiss K , Hershkovitz T , Iascone M , Maitz S , Feichtinger RG , Kotzot D , Mayr JA , Ben-Omran T , Mahmoud L , Pais LS , Walsh CA , Shashi V , Sullivan JA , Stong N , Lecoquierre F , Guerrot AM , Charollais A , Rodan LH

Published On :2021 Aug

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

Association of Serum Immunoglobulins Levels With Specific Disease Phenotypes of Crohn's Disease: A Multicenter Analysis in China.

Authors :Song DJ , Shen J , Chen MH , Liu ZJ , Cao Q , Hu PJ , Gao X , Qian JM , Wu KC , Lai LJ , Ran ZH

Published On :2021

Journal Article

Utility of inflammatory biomarkers in patients with COVID-19 infections: Bahrain experience.

Authors :Farid E , Sridharan K , Alsegai OA , Khawaja SA , Mansoor EJ , Teraifi NA , Qahtani MA , Salman JA

Published On :2021 Jun

Journal Article

Development and Validation of an Interleukin-6 Nomogram to Predict Primary Non-response to Infliximab in Crohn's Disease Patients.

Authors :Chen Y , Li H , Feng Q , Shen J

Published On :2021

Journal Article

Detailed in-furnace measurements with reburning of superfine pulverized coal in high CO(2) concentration.

Authors :Shen J , Liu J , Deng S , Wang S , Chen B , Jiang X

Published On :2021 Jun

Journal Article

Brain Somatic Mutation in Aging and Alzheimer's Disease.

Authors :Miller MB , Reed HC , Walsh CA

Published On :2021 Aug 31

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

Lower Plasma α-Synuclein Levels are Associated with Cognitive Impairment in Parkinson's Disease.

Authors :Song Z , Shen J , Liu Y , Du X , Wu Y , Liu X , Zhang J

Published On :2021 May 1

Journal Article

[(13)C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis.

Authors :Ficicioglu C , Demirbas D , Derks B , Pai GS , Timson DJ , Rubio-Gozalbo ME , Berry GT

Published On :2021 May

Journal Article

Management and implementation strategies of pre-screening triage in children during coronavirus disease 2019 pandemic in Guangzhou, China.

Authors :Shi X , Cai YT , Cai X , Wen XL , Wang JY , Ma WC , Shen J , Wu JX , Liu HY , Sun J , He PQ , Lin Y , Zhao DY , Li PQ

Published On :2021 Apr 26

Journal Article