Publications | International Center for Genetic Disease at Harvard Medical School

Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.

Authors :Rämö JT , Kiiskinen T , Seist R , Krebs K , Kanai M , Karjalainen J , Kurki M , Hämäläinen E , Häppölä P , Havulinna AS , Hautakangas H , FinnGen , Mägi R , Palta P , Esko T , Metspalu A , Pirinen M , Karczewski KJ , Ripatti S , Milani L , Stankovic KM , Mäkitie A , Daly MJ , Palotie A

Published On :2023 Jan 18

Meta-Analysis Journal Article

BMI-adjusted adipose tissue volumes exhibit depot-specific and divergent associations with cardiometabolic diseases.

Authors :Agrawal S , Klarqvist MDR , Diamant N , Stanley TL , Ellinor PT , Mehta NN , Philippakis A , Ng K , Claussnitzer M , Grinspoon SK , Batra P , Khera AV

Published On :2023 Jan 17

Journal Article

Racial Differences in Germline Genetic Testing for Prostate Cancer: A Systematic Review.

Authors :Briggs LG , Steele GL , Qian ZJ , Subbana S , Alkhatib KY , Labban M , Langbein BJ , Nguyen DD , Cellini J , Kilbridge K , Kibel AS , Trinh QD , Rana HQ , Cole AP

Published On :2023 May

Journal Article

A seed sequence variant in miR-145-5p causes multisystem smooth muscle dysfunction syndrome.

Authors :Lino Cardenas CL , Briere LC , Sweetser DA , Lindsay ME , Musolino PL

Published On :2023 Mar 1

Journal Article

Meta-analysis fine-mapping is often miscalibrated at single-variant resolution.

Authors :Kanai M , Elzur R , Zhou W , Global Biobank Meta-analysis Initiative , Daly MJ , Finucane HK

Published On :2022 Dec 14

Journal Article

Three-dimensional imaging analysis for the diagnosis of dural ossification in thoracic ossification of the ligamentum flavum: a multicenter study.

Authors :Yan C , Ling SY , Zhao TY , Tan Y , Liu T , Shen J , Shi GD , Sun JC , Shi JG

Published On :2023 Jan 1

Journal Article

Editorial: Digital twins of plant and forest.

Authors :Lv Z , Song HH , Shen J , Vaughan N

Published On :2022

Editorial

The Value of Myocardial Fibrosis Parameters Derived from Cardiac Magnetic Resonance Imaging in Risk Stratification for Patients with Hypertrophic Cardiomyopathy.

Authors :Yu T , Cai Z , Yang Z , Lin W , Su Y , Li J , Xie S , Shen J

Published On :2023 Sep

Journal Article

Mercury evidence from southern Pangea terrestrial sections for end-Permian global volcanic effects.

Authors :Shen J , Chen J , Yu J , Algeo TJ , Smith RMH , Botha J , Frank TD , Fielding CR , Ward PD , Mather TA

Published On :2023 Jan 3

Journal Article

First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier Testing.

Authors :Stenton SL , Campagna M , Philippakis A , O'Donnell-Luria A , Gelb MH

Published On :2023

Journal Article

Wound healing dynamics, morbidity, and complications of palatal soft-tissue harvesting.

Authors :Tavelli L , Barootchi S , Stefanini M , Zucchelli G , Giannobile WV , Wang HL

Published On :2023 Jun

Journal Article Review

Identification and validation of senescence-related genes in circulating endothelial cells of patients with acute myocardial infarction.

Authors :Xiang J , Shen J , Zhang L , Tang B

Published On :2022

Journal Article

Machine Learning to Understand Genetic and Clinical Factors Associated With the Pulse Waveform Dicrotic Notch.

Authors :Cunningham JW , Di Achille P , Morrill VN , Weng LC , Choi SH , Khurshid S , Nauffal V , Pirruccello JP , Solomon SD , Batra P , Ho JE , Philippakis AA , Ellinor PT , Lubitz SA

Published On :2023 Feb

Journal Article

Piezo mechanosensory channels regulate centrosome integrity and mitotic entry.

Authors :David L , Martinez L , Xi Q , Kooshesh KA , Zhang Y , Shah JV , Maas RL , Wu H

Published On :2023 Jan 3

Journal Article

Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits.

Authors :Chun S , Akle S , Teodosiadis A , Cade BE , Wang H , Sofer T , Evans DS , Stone KL , Gharib SA , Mukherjee S , Palmer LJ , Hillman D , Rotter JI , Hanis CL , Stamatoyannopoulos JA , Redline S , Cotsapas C , Sunyaev SR

Published On :2022 Dec

Journal Article