Publications | International Center for Genetic Disease at Harvard Medical School

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

The safety and efficacy of mini-percutaneous nephrolithotomy vs. retrograde intrarenal surgery for treatment of renal lithiasis in pelvic ectopic kidney: an exploratory pilot study.

Authors :Wu J , Shen J

Published On :2021 Apr

Journal Article

CCR7-CCL21 axis promotes the cervical lymph node metastasis of tongue squamous cell carcinoma by up-regulating MUC1.

Authors :Wang Q , Zou H , Wang Y , Shang J , Yang L , Shen J

Published On :2021 Jul

Journal Article

Purifying selection on noncoding deletions of human regulatory loci detected using their cellular pleiotropy.

Authors :Radke DW , Sul JH , Balick DJ , Akle S , Alzheimer's Disease Neuroimaging Initiative , Green RC , Sunyaev SR

Published On :2021 Jun

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.

Nuclear translocation of OsMFT1 that is impeded by OsFTIP1 promotes drought tolerance in rice.

Authors :Chen Y , Shen J , Zhang L , Qi H , Yang L , Wang H , Wang J , Wang Y , Du H , Tao Z , Zhao T , Deng P , Shu Q , Qian Q , Yu H , Song S

Published On :2021 Aug 2

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

How PARO can help older people in elderly care facilities: A systematic review of RCT.

Authors :Wang X , Shen J , Chen Q

Published On :2022 Jan

Journal Article Systematic Review

Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.

Authors :Liu L , Liu F , Wang Q , Xie H , Li Z , Lu Q , Wang Y , Zhang M , Zhang Y , Picker J , Cui X , Zou L , Chen X

Published On :2021 Jun

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

Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial.

Authors :Blümcke I , Coras R , Busch RM , Morita-Sherman M , Lal D , Prayson R , Cendes F , Lopes-Cendes I , Rogerio F , Almeida VS , Rocha CS , Sim NS , Lee JH , Kim SH , Baulac S , Baldassari S , Adle-Biassette H , Walsh CA , Bizzotto S , Doan RN , Morillo KS , Aronica E , Mühlebner A , Becker A , Cienfuegos J , Garbelli R , Giannini C , Honavar M , Jacques TS , Thom M , Mahadevan A , Miyata H , Niehusmann P , Sarnat HB , Söylemezoglu F , Najm I

Published On :2021 Jun

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

A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome.

Authors :Godfrey D , Torres A , Heidary G , Zahoor H , Lee A , Berry G , Engle E

Published On :2021 Oct

Case Reports Journal Article

Coordinated β-globin expression and α2-globin reduction in a multiplex lentiviral gene therapy vector for β-thalassemia.

Authors :Nualkaew T , Sii-Felice K , Giorgi M , McColl B , Gouzil J , Glaser A , Voon HPJ , Tee HY , Grigoriadis G , Svasti S , Fucharoen S , Hongeng S , Leboulch P , Payen E , Vadolas J

Published On :2021 Sep 1

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

Parameters Indicating Development of Influenza-Associated Acute Necrotizing Encephalopathy: Experiences from a Single Center.

Authors :Li S , Hu D , Li P , Xiao W , Li H , Liu G , Song Y , Ning S , Peng Q , Zhao D , Situ M , Li W , Wu P , Zheng J , Liu Y , Hu L , Wang P , Hu Z , Ma W , Shen J , Yang S

Published On :2021 May 2

Journal Article

Globally diverse Mycobacterium tuberculosis resistance acquisition: a retrospective geographical and temporal analysis of whole genome sequences.

Authors :Ektefaie Y , Dixit A , Freschi L , Farhat MR

Published On :2021 Mar

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

ANGPTL8 protein-truncating variant associated with lower serum triglycerides and risk of coronary disease.

Authors :Helkkula P , Kiiskinen T , Havulinna AS , Karjalainen J , Koskinen S , Salomaa V , Daly MJ , Palotie A , Surakka I , Ripatti S , FinnGen

Published On :2021 Apr

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

High-throughput functional variant screens via in vivo production of single-stranded DNA.

Authors :Schubert MG , Goodman DB , Wannier TM , Kaur D , Farzadfard F , Lu TK , Shipman SL , Church GM

Published On :2021 May 4

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

In ovo electroporation of chicken limb bud ectoderm: Electroporation to chick limb ectoderm: Electroporation to chick limb ectoderm.

Authors :Tomizawa RR , Tabin CJ , Atsuta Y

Published On :2022 Sep

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