Publications | International Center for Genetic Disease at Harvard Medical School

A Record-High Cryogenic Magnetocaloric Effect Discovered in EuCl(2) Compound.

Authors :Wang B , Liu X , Hu F , Wang JT , Xiang J , Sun P , Wang J , Sun J , Zhao T , Mo Z , Shen J , Chen Y , Huang Q , Shen B

Published On :2024 Dec 25

Journal Article

Applying single-cell and single-nucleus genomics to studies of cellular heterogeneity and cell fate transitions in the nervous system.

Authors :Adameyko I , Bakken T , Bhaduri A , Chhatbar C , Filbin MG , Gate D , Hochgerner H , Kim CN , Krull J , La Manno G , Li Q , Linnarsson S , Ma Q , Mayer C , Menon V , Nano P , Prinz M , Quake S , Walsh CA , Yang J , Bayraktar OA , Gokce O , Habib N , Konopka G , Liddelow SA , Nowakowski TJ

Published On :2024 Dec

Journal Article Review

Author Correction: Genetic drivers and cellular selection of female mosaic X chromosome loss.

Authors :Liu A , Genovese G , Zhao Y , Pirinen M , Zekavat SM , Kentistou KA , Yang Z , Yu K , Vlasschaert C , Liu X , Brown DW , Hudjashov G , Gorman BR , Dennis J , Zhou W , Momozawa Y , Pyarajan S , Tuzov V , Pajuste FD , Aavikko M , Sipilä TP , Ghazal A , Huang WY , Freedman ND , Song L , Gardner EJ , FinnGen , Estonian Biobank Research Team , Breast Cancer Association Consortium , Million Veteran Program , Sankaran VG , Palotie A , Ollila HM , Tukiainen T , Chanock SJ , Mägi R , Natarajan P , Daly MJ , Bick A , McCarroll SA , Terao C , Loh PR , Ganna A , Perry JRB , Machiela MJ

Published On :2024 Dec

Published Erratum

Are complex traits underpinned by polygenic molecular traits? A reflection on the complexity of gene expression.

Authors :Hajheidari M , Sunyaev S , de Meaux J

Published On :2025 May 17

Journal Article Review

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.

Authors :French CE , Andrews NC , Beggs AH , Boone PM , Brownstein CA , Chopra M , Chou J , Chung WK , D'Gama AM , Doan RN , Ebrahimi-Fakhari D , Goldstein RD , Irons M , Jacobsen C , Kenna M , Lee T , Madden JA , Majmundar AJ , Mann N , Morton SU , Poduri A , Randolph AG , Roberts AE , Roberts S , Sampson MG , Shao DD , Shao W , Sharma A , Shearer E , Shimamura A , Snapper SB , Srivastava S , Thiagarajah JR , Whitman MC , Wojcik MH , Rockowitz S , Sliz P

Published On :2024 Dec 2

Journal Article

Revealing multi-level shortrange migration of electrons on full-spectrum response e-LDH/t-BiOCl/Bi(2)S(3) and their essential role in the detoxification of Cr(VI) and refractory organic pollutants.

Authors :Bai J , Wang C , Zhang X , Li X , Mao Y , Liang W , Zhang C , Xiao X , Shen J

Published On :2025 Feb 1

Journal Article

Metric from Human: Zero-shot Monocular Metric Depth Estimation via Test-time Adaptation.

Authors :Zhao Y , Bian H , Chen K , Ji P , Qu L , Lin SY , Yu W , Li H , Chen H , Shen J , Raj B , Xu M

Published On :2024 Dec

Journal Article

Patient voices on PKU care: Insights from focus groups with current and former patients.

Authors :Zhu E , Hollander S , Sacharow S

Published On :2024 Dec

Journal Article

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

Authors :Broeren E , Gitau V , Byrne A , Ajuyah P , Balzotti M , Berg J , Bluske K , Bowen BM , Brown MP , Buchanan A , Burns B , Burns NJ , Chandrasekhar A , Chawla A , Chong J , Chopra M , Clause A , DiStefano M , DiTroia S , Elnagheeb M , Girod A , Goel H , Golden-Grant K , Ha T , Hamosh A , Huang J , Hughes M , Jamuar S , Kam S , Kesari A , Koh AL , Lassiter R , Leigh S , Lemire G , Lim JY , Malhotra A , McCurry H , Milewski B , Moosa S , Murray S , Owens E , Palmer E , Palus B , Patel M , Rajkumar R , Ratliff J , Raymond FL , Assis BDRR , Sajan S , Schlachetzki Z , Schmidt S , Stark Z , Strom S , Taylor J , Thaxton C , Thrush D , Toro S , Tshering K , Vasilevsky N , Wayburn B , Webb R , O'Donnell-Luria A , Coffey AJ

Published On :2024 Nov 20

Journal Article Preprint

Loss of CFHR5 function reduces the risk for age-related macular degeneration.

Authors :Reeve MP , Loomis S , Nissilä E , Rausch T , Zheng Z , Briotta Parolo PD , Ben-Isvy D , Aho E , Cesetti E , Okunuki Y , McLaughlin H , Mäkelä J , FinnGen , Kurki M , Talkowski ME , Korbel JO , Connor K , Meri S , Daly MJ , Runz H

Published On :2024 Nov 11

Journal Article Preprint

SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome.

Authors :Mullen MP , Ivy DD , Varghese NP , Winant AJ , Cortes-Santiago N , Vargas SO , Porres D , Maschietto N , Critser PJ , Hirsch R , Avitabile CM , Hopper RK , Frank BS , Coleman RD , Agrawal PB , Madden JA , Roberts AE , Collins SL , Raj JU , Austin ED , Chung WK , Abman SH

Published On :2025 Mar

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

Molecular and In Silico Analysis of the CHEK2 Gene in Individuals with High Risk of Cancer Predisposition from Türkiye.

Authors :Ozdemir O , Bychkovsky BL , Unal B , Onder G , Amanvermez U , Aydin E , Ergun B , Sahin I , Gokbayrak M , Ugurtas C , Koroglu MN , Cakir B , Kalay I , Cine N , Ozbek U , Rana HQ , Hatirnaz Ng O , Agaoglu NB

Published On :2024 Nov 20

Journal Article

Nano-Silica-Based Double-Layer Antireflective Coatings with Mildew Resistance and Moisture Resistance for KDP Crystals.

Authors :Wang X , Zhang C , Jiang H , Wang H , Shen J

Published On :2024 Dec

Journal Article

Comparison of the Cecum Ligation and Puncture Method and the Intraperitoneal Lipopolysaccharide Injection Method for the Construction of a New-Onset Atrial Fibrillation Model of Sepsis.

Authors :Ling X , Shen J , Liang J , Yang K , Yang J

Published On :2024

Journal Article

Prognostic Prediction for Recurrent/Residual CIN in HSIL Patients After Conization: An Updated Retrospective Study Based on Ambulatory Surgery.

Authors :Huang G , Lin W , Gao H , Ren Y , Shen J , Xu S , Liu D , Cai Y , Lin C , Lin X , Jiang T , Dong B , Sun P

Published On :2024

Journal Article