Publications | International Center for Genetic Disease at Harvard Medical School

Cryosectioning-enhanced super-resolution microscopy for single-protein imaging across cells and tissues.

Authors :Stein J , Ericsson M , Nofal M , Magni L , Aufmkolk S , McMillan RB , Breimann L , Herlihy CP , Lee SD , Willemin A , Wohlmann J , Arguedas-Jimenez L , Yin P , Pombo A , Church GM , Wu CT

Published On :2025 Aug 12

Journal Article

Construction of a Nomogram Model for Predicting Prognosis in Breast Cancer Patients Based on the Expression of THRSP and ACACA Proteins Tissues.

Authors :Wei B , Li F , Yan H , Shen J

Published On :2025

Journal Article

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.

Authors :Kobren SN , Moldovan MA , Reimers R , Traviglia D , Li X , Barnum D , Veit A , Corona RI , Carvalho Neto GV , Willett J , Berselli M , Ronchetti W , Nelson SF , Martinez-Agosto JA , Sherwood R , Krier J , Kohane IS , Undiagnosed Diseases Network , Sunyaev SR

Published On :2025 Aug 7

Journal Article

Academic Learning Profiles Across Disorders of KMT2 Gene Family: Superimposed and Distinct Features Across Kabuki, Wiedemann-Steiner and ODLURO Syndromes.

Authors :Ng R , Meier L , O'Donnell-Luria A , Harris J

Published On :2025 Nov

Journal Article

Exploring the effect of avocado on lipid profile modulation: a systematic review and dose-response and meta-analysis of clinical trials.

Authors :Mostafazadeh P , Etesamnia S , Nasiraei-Moghadam M , Jahan-Mihan A , Haghighi A , Zendedel A , Ebrahimpour-Koujan S

Published On :2025 Aug 1

Journal Article Review

Electrocardiogram-Based Artificial Intelligence to Identify Coronary Artery Disease.

Authors :Kany S , Friedman SF , Al-Alusi M , Khurshid S , Rämö JT , Pipilas D , Pirruccello JP , Reeder C , Philippakis AA , Ho JE , Maddah M , Ellinor PT , Fahed AC

Published On :2025 Sep

Journal Article

Search for a genetic cause of variably protease-sensitive prionopathy.

Authors :Lian Y , Kotobelli K , Hall S , Talkowski ME , O'Donnell-Luria A , Vallabh SM , Appleby BS , Minikel EV

Published On :2025 Aug

Journal Article

Risk-Stratified Pretransplant Immunosuppressive Strategy Improves Outcomes of Unrelated Cord Blood Transplantation in Pediatric β-Thalassemia Major.

Authors :Wu L , Qu Y , Wang X , Ding W , Liu H , Liang Z , Kuang C , Liu S , Wu W , Shen J , Jiang H

Published On :2025 Nov

Journal Article

Smart Health Evaluation for Lithium-Ion Battery With Super-Short-Segment Charging.

Authors :Li Q , Wei Z , He H , Shen J , Li Y , Yang X , Vilathgamuwa M

Published On :2025 Sep

Journal Article

Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing.

Authors :Suresh A , Morton SU , Quiat D , DePalma SR , Gorham JM , Brueckner M , Tristani-Firouzi M , Gelb BD , Seidman JG , Seidman CE , Pediatric Cardiac Genomics Consortium

Published On :2025 Jul 25

Journal Article

Coronary Artery Disease-Based Polygenic Risk Score in Early-Onset Acute Myocardial Infarction Subtypes.

Authors :Dong W , Lu Y , Li SX , Sawano M , Caraballo C , Liu Y , Khera A , Philippakis A , Dreyer R , Lichtman J , D'Onofrio G , Spatz ES , Herrington D , Post WS , Rich SS , Rotter JI , Krumholz HM

Published On :2025 Aug

Journal Article