Publications | International Center for Genetic Disease at Harvard Medical School

Demonstrating paths for unlocking the value of cloud genomics through cross cohort analysis.

Authors :Deflaux N , Selvaraj MS , Condon HR , Mayo K , Haidermota S , Basford MA , Lunt C , Philippakis AA , Roden DM , Denny JC , Musick A , Collins R , Allen N , Effingham M , Glazer D , Natarajan P , Bick AG

Published On :2023 Sep 5

Meta-Analysis Journal Article

Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency.

Authors :Villamor-Payà M , Sanchiz-Calvo M , Smak J , Pais L , Sud M , Shankavaram U , Lovgren AK , Austin-Tse C , Ganesh VS , Gay M , Vilaseca M , Arauz-Garofalo G , Palenzuela L , VanNoy G , O'Donnell-Luria A , Stracker TH

Published On :2023 Aug 24

Journal Article

Natural Language Processing for Adjudication of Heart Failure Hospitalizations in a Multi-Center Clinical Trial.

Authors :Cunningham JW , Singh P , Reeder C , Claggett B , Marti-Castellote PM , Lau ES , Khurshid S , Batra P , Lubitz SA , Maddah M , Philippakis A , Desai AS , Ellinor PT , Vardeny O , Solomon SD , Ho JE

Published On :2023 Aug 23

Journal Article

A Real-world Dataset and Benchmark For Foundation Model Adaptation in Medical Image Classification.

Authors :Wang D , Wang X , Wang L , Li M , Da Q , Liu X , Gao X , Shen J , He J , Shen T , Duan Q , Zhao J , Li K , Qiao Y , Zhang S

Published On :2023 Sep 2

Journal Article

Cellulose/amylose derivatives bearing bulky substituents as reversible fluorescent sensors for detection of Fe(3).

Authors :Wang F , Wang W , Wang Y , Zhang L , Okamoto Y , Shen J

Published On :2023 Nov 15

Journal Article

Investigation of germline variants in Bahraini women with breast cancer using next-generation sequencing based-multigene panel.

Authors :Al-Kafaji G , Jassim G , AlHajeri A , Alawadhi AMT , Fida M , Sahin I , Alali F , Fadel E

Published On :2023

Journal Article

Chaperone-mediated autophagy: Molecular mechanisms, biological functions, and diseases.

Authors :Yao R , Shen J

Published On :2023 Oct

Journal Article Review

Experimental Characteristics of Patients with Newly Diagnosed Multiple Myeloma.

Authors :Li L , Han C , Yu X , Cai Y , Cao Y , Shen J , Cao Y

Published On :2023 Nov

Journal Article

Prognostic Value of Elevated Plasma Galectin-3 for Renal Adverse Events in Dialysis Patients: A Systematic Review and Meta-Analysis.

Authors :Lu H , Shen J , Sun J , Sun J

Published On :2023 Nov

Meta-Analysis Journal Article

Elastic Stable Intramedullary Nailing Improves Fracture Healing and Mobility in Children with Femoral Fractures.

Authors :Mao Y , Wang L , Zhang A , Shen J , Tang K , Wang L

Published On :2023 Nov

Journal Article

Unique Challenges of NIPT for Sex Chromosome Aneuploidy.

Authors :Wilkins-Haug L , Reimers R

Published On :2023 Sep 1

Journal Article

3D Lithiophilic CuZrAg Metallic Glass Based-Current Collector for High-Performance Lithium Metal Anode.

Authors :Ye P , Zhang Y , Tong T , Ao L , Chen Z , Huang H , Hussain A , Ramiere A , Cai X , Liu D , Shen J

Published On :2023 Dec

Journal Article

Pregnancy-Associated Bleeding and Genetics: Five Sequence Variants in the Myometrium and Progesterone Signaling Pathway are associated with postpartum hemorrhage.

Authors :Westergaard D , Steinthorsdottir V , Stefansdottir L , Rohde PD , Wu X , Geller F , Tyrmi J , Havulinna AS , Navais PS , Flatley C , Ostrowski SR , Pedersen OB , Erikstrup C , Sørensen E , Mikkelsen C , Brun MT , Jensen BA , Brodersen T , Ullum H , FinnGen , Danish Blood Donor Study Genomic Consortium , Estonian Biobank Research Team , Nordic Collaboration for Womens and Reproductive Health , Magnus P , Andreassen OA , Njolstad PR , Kolte AM , Krebs L , Nyegaard M , Hansen TF , Fenstra B , Daly M , Lindgren CM , Thorleifsson G , Stefansson OA , Sveinbjornsson G , Gudbjartsson DF , Thorsteinsdottir U , Banasik K , Jacobsson B , Laisk T , Laivuori H , Stefansson K , Brunak S , Nielsen HS

Published On :2023 Aug 15

Journal Article

Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.

Authors :Rodin RE , Dou Y , Kwon M , Sherman MA , D'Gama AM , Doan RN , Rento LM , Girskis KM , Bohrson CL , Kim SN , Nadig A , Luquette LJ , Gulhan DC , Brain Somatic Mosaicism Network , Park PJ , Walsh CA

Published On :2023 Oct

Published Erratum

Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.

Authors :Singer-Berk M , Gudmundsson S , Baxter S , Seaby EG , England E , Wood JC , Son RG , Watts NA , Karczewski KJ , Harrison SM , MacArthur DG , Rehm HL , O'Donnell-Luria A

Published On :2023 Sep 7

Journal Article