Publications | International Center for Genetic Disease at Harvard Medical School

Molecular analysis of dilated and left ventricular noncompaction cardiomyopathies in Egyptian children.

Authors :Mehaney DA , Haghighi A , Embaby AK , Zeyada RA , Darwish RK , Elfeel NS , Abouelhoda M , El-Saiedi SA , Gohar NA , Seliem ZS

Published On :2022 Feb

Journal Article

Multisystem inflammatory syndrome in children is driven by zonulin-dependent loss of gut mucosal barrier.

Authors :Yonker LM , Gilboa T , Ogata AF , Senussi Y , Lazarovits R , Boribong BP , Bartsch YC , Loiselle M , Rivas MN , Porritt RA , Lima R , Davis JP , Farkas EJ , Burns MD , Young N , Mahajan VS , Hajizadeh S , Lopez XIH , Kreuzer J , Morris R , Martinez EE , Han I , Griswold K Jr , Barry NC , Thompson DB , Church G , Edlow AG , Haas W , Pillai S , Arditi M , Alter G , Walt DR , Fasano A

Published On :2021 Jul 15

Journal Article

Genetic mapping of metabolic traits in the blind Mexican cavefish reveals sex-dependent quantitative trait loci associated with cave adaptation.

Authors :Riddle MR , Aspiras A , Damen F , McGaugh S , Tabin JA , Tabin CJ

Published On :2021 May 21

Journal Article

The clinical and functional effects of TERT variants in myelodysplastic syndrome.

Authors :Reilly CR , Myllymäki M , Redd R , Padmanaban S , Karunakaran D , Tesmer V , Tsai FD , Gibson CJ , Rana HQ , Zhong L , Saber W , Spellman SR , Hu ZH , Orr EH , Chen MM , De Vivo I , DeAngelo DJ , Cutler C , Antin JH , Neuberg D , Garber JE , Nandakumar J , Agarwal S , Lindsley RC

Published On :2021 Sep 9

Clinical Trial Journal Article

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

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

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

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

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

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