Publications | International Center for Genetic Disease at Harvard Medical School

Large Class of Neurodevelopmental Disorders Requires Genome Sequencing for Diagnosis.

Authors :Berger SI , O'Donnell-Luria A

Published On :2025 Nov 19

Journal Article

Segregating DNA lesions point to high selective advantage of tumor initiating cells.

Authors :Seplyarskiy V , Shady M , Andrianova MA , Chapman MS , Van Allen EM , Sunyaev SR

Published On :2025 Oct 4

Journal Article

Combined somatic mutation and transcriptome analysis reveals region-specific differences in clonal architecture in human cortex.

Authors :Viswanadham VV , Kim SN , Caglayan E , Doan RN , Dou Y , Bizzotto S , Khoshkhoo S , Huang AY , Yeh R , Chhouk BH , Truong A , Chappell KM , Beaudin M , Barton A , Akula SK , Zhao Y , Rento L , Lodato M , Szeto RA , Ganz J , Li P , Tsai JW , Hill RS , Park PJ , Walsh CA

Published On :2025 Nov 13

Journal Article

Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial.

Authors :Reimers R , Bailey M , Brown C , Chan K , Defay T , Finkel T , Kahn S , Protopsaltis L , Stoddard L , Talati AJ , Wigby K , Akil ASA , Wright M , Kingsmore SF , BeginNGS Consortium

Published On :2025 Nov 13

Journal Article

Antinuclear antibodies seroconversion and endoscopic response to infliximab in biologic-naive Crohn's disease: a Chinese single-center, retrospective study.

Authors :Tong J , Xu X , Cao Y , Zhu M , Lu J , Qiao Y , Dai Z , Wang T , Sun Y , Cao Z , Jun S

Published On :2025 Nov 14

Journal Article

Rare genetic variants confer a high risk of ADHD and implicate neuronal biology.

Authors :Demontis D , Duan J , Hsu YH , Pintacuda G , Grove J , Nielsen TT , Thirstrup J , Martorana M , Botts T , Satterstrom FK , Bybjerg-Grauholm J , Tsai JHY , Glerup S , Hoogman M , Buitelaar J , Klein M , Ziegler GC , Jacob C , Grimm O , Bayas M , Kobayashi NF , Kittel-Schneider S , Lesch KP , Franke B , Reif A , Agerbo E , Werge T , Nordentoft M , Mors O , Mortensen PB , Lage K , Daly MJ , Neale BM , Børglum AD

Published On :2025 Nov 12

Journal Article

GREGoR: accelerating genomics for rare diseases.

Authors :Dawood M , Heavner B , Wheeler MM , Ungar RA , LoTempio J , Wiel L , Berger S , Bernstein JA , Chong JX , Délot EC , Eichler EE , Lupski JR , Shojaie A , Talkowski ME , Wagner AH , Wei CL , Wellington C , Wheeler MT , GREGoR Partner Members , Carvalho CMB , Gibbs RA , Gifford CA , May S , Miller DE , Rehm HL , Samocha KE , Sedlazeck FJ , Vilain E , O'Donnell-Luria A , Posey JE , Chadwick LH , Bamshad MJ , Montgomery SB , Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium

Published On :2025 Nov

Journal Article

A combination of MRI diffusion-derived vessel density (DDVD) and slow diffusion coefficient (SDC) can reliably diagnose liver hemangioma: a testing of three centers' data.

Authors :Hu GW , Li CY , Ling GH , Zheng CJ , Zhu MSY , Sabarudin A , Duan XH , Li XM , Shen J , Wáng YXJ

Published On :2025 Oct 31

Journal Article

Automatic segmentation and reconstruction of lower-extremity arteries from computed tomography angiography images via a deep learning framework.

Authors :Liu X , Hu H , Lu G , Jiang Y , Tan L , Yang Z , Shen J

Published On :2025 Nov 1

Journal Article

Targeting lactate metabolism to restore immune homeostasis: a precision therapeutic paradigm for rheumatoid arthritis.

Authors :Zheng L , A X , Ma S , Xu B , Xiang Z , Cao B , Shen J , Xu X , Cheng Y , Ran L , Shi Q , Bian Y , Xiao L

Published On :2025

Journal Article Review

A multi-geometric graph fusion network for protein-ligand affinity prediction.

Authors :Zhou G , Yuan S , Xu Q , Li H , Chen H , Shen J

Published On :2025 Nov 19

Journal Article

Author Correction: Enhancing randomized clinical trials with digital twins.

Authors :Akbarialiabad H , Pasdar A , Murrell DF , Mostafavi M , Shakil F , Safaee E , Leachman SA , Haghighi A , Tarbox M , Bunick CG , Grada A

Published On :2025 Nov 6

Published Erratum

Two Sides of One Circulation: Placental Malperfusion and Its Lasting Imprint on Congenital Heart Disease.

Authors :Ronai C , Wilkins-Haug LE

Published On :2025 Nov 11

Editorial

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.

Authors :Gudmundsson S , Singer-Berk M , Stenton SL , Goodrich JK , Wilson MW , Einson J , Watts NA , Genome Aggregation Database Consortium , Lappalainen T , Rehm HL , MacArthur DG , O'Donnell-Luria A

Published On :2025 Oct 31

Journal Article

Deep Learning-Driven Protein-Ligand Binding Affinity Prediction: Data, Architecture, Training and Evaluation.

Authors :Li Z , Zhou G , Li H , Mi J , Shi J , Shen J

Published On :2025 Oct 31

Journal Article