Publications | International Center for Genetic Disease at Harvard Medical School

ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.

Authors :Almontashiri NAM , Alharby E , Saleh M , Abu-Farha M , Alasmari A , Gebbia M , Hiesl C , Peake RWA , Amr SS , Boles E , Roth FP , Abubaker J

Published On :2025 Feb

Journal Article Case Reports

Research Progress of Drugs in Prevention and Treatment of Nephrolithiasis.

Authors :Xia SS , Shen J , Shen KW , Wang Q , Cen WH

Published On :2024 Dec

Journal Article Review

Predicting poststroke cognitive impairment after acute ischemic stroke based on admission characteristics.

Authors :Yang X , Wei M , Chen P , Shen J , Tong Q , Tian X , Han Q

Published On :2024 Dec

Journal Article Validation Study

A Genome-Wide Association Study Reveals a Novel Susceptibility Locus for Pancreas Divisum at 3q29.

Authors :Gaitanidis A , Christensen MA , Breen KA , Kambadakone AR , Joshipura ND , Fernandez-Del Castillo C , Hernandez-Barco YG , Kaafarani HMA , Velmahos GC , Farhat MR , Fagenholz PJ

Published On :2024 Nov

Journal Article

Managing CDH1 Cancer Risks in a Child: Complex Decision Making in a Family With Hereditary Diffuse Gastric Cancer.

Authors :Agaoglu NB , Ng OH , Zemheri IE , Unal B , Gerenli N , Tosun I , Yazıcı H , Ozbek U , Kamihara J , Rana HQ

Published On :2025 Feb

Case Reports Journal Article

Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes.

Authors :Maury EA , Jones A , Seplyarskiy V , Nguyen TTL , Rosenbluh C , Bae T , Wang Y , Abyzov A , Khoshkhoo S , Chahine Y , Zhao S , Venkatesh S , Root E , Voloudakis G , Roussos P , Brain Somatic Mosaicism Network‡ , Park PJ , Akbarian S , Brennand K , Reilly S , Lee EA , Sunyaev SR , Walsh CA , Chess A

Published On :2024 Oct 11

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

FAVOR-GPT: a generative natural language interface to whole genome variant functional annotations.

Authors :Li TC , Zhou H , Verma V , Tang X , Shao Y , Van Buren E , Weng Z , Gerstein M , Neale B , Sunyaev SR , Lin X

Published On :2024

Journal Article

Expansion in situ genome sequencing links nuclear abnormalities to hotspots of aberrant euchromatin repression.

Authors :Labade AS , Chiang ZD , Comenho C , Reginato PL , Payne AC , Earl AS , Shrestha R , Duarte FM , Habibi E , Zhang R , Church GM , Boyden ES , Chen F , Buenrostro JD

Published On :2024 Sep 26

Journal Article Preprint

Adverse event profiles of CDK4/6 inhibitors: data mining and disproportionality analysis of the FDA adverse event reporting system.

Authors :Shen J , Luo P , Xu J

Published On :2024

Journal Article

Physician-dentist dual referral model concept for coordinated bone anabolic therapy.

Authors :Latimer JM , Travan S , Berkey FD , Sugai JV , Giannobile WV

Published On :2024 Nov

Journal Article

Real-world impact of emicizumab and immunosuppression on acquired hemophilia A: a multicenter US cohort.

Authors :Poston JN , Bryan C , von Drygalski A , Al Banaa K , Zhou JY , Parnes A , Chen EC , Khan O , Ellsworth P , Cafuir L , Walsh C , Escobar MA , Wu JF , Malec LM , Kessler CM , Janbain M , Kruse-Jarres R

Published On :2024 Nov 26

Journal Article Multicenter Study

A Multifunctional Nanodrug Increases the Therapeutic Sensitivity of Lenvatinib to Hepatocellular Carcinoma by Inhibiting the Stemness of Hepatic Cancer Stem Cells.

Authors :Yang X , Zhang Q , Li D , Hu L , Wang Y , Yan X , Li Y , Wang Y , Zhang F , Shen J

Published On :2024 Nov

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

Healing sequelae following tooth extraction and dental implant placement in an aged, ovariectomy model.

Authors :Latimer JM , Maekawa S , Shiba T , Fretwurst T , Chen M , Larsson L , Sugai JV , Kostenuik P , Mitlak B , Lanske B , Giannobile WV

Published On :2024 Oct

Journal Article

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.

Authors :Bergquist T , Stenton SL , Nadeau EAW , Byrne AB , Greenblatt MS , Harrison SM , Tavtigian SV , O'Donnell-Luria A , Biesecker LG , Radivojac P , Brenner SE , Pejaver V , ClinGen Sequence Variant Interpretation Working Group

Published On :2024 Sep 21

Journal Article Preprint

Chemical genetic analysis of enoxolone inhibition of Clostridioides difficile toxin production reveals adenine deaminase and ATP synthase as antivirulence targets.

Authors :Marreddy RKR , Phelps GA , Churion K , Picker J , Powell R , Cherian PT , Bowling JJ , Stephan CC , Lee RE , Hurdle JG

Published On :2024 Nov

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