Hagar Mor-Shaked - Hadassah Medical Center

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论文共 54 篇作者统计合作学者相似作者

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Calmodulinopathy Associated Long QT Syndrome, Hypertrophic Cardiomyopathy With Excessive Trabeculation in a 14-Year-Old Girl Presenting With Ventricular Fibrillation

Ayelet Shauer,Smadar Horowitz-Cederboim,Hagar Mor-Shaked,Ronen Durst,Donna R. Zwas,Bernard Belhassen

CIRCULATION-GENOMIC AND PRECISION MEDICINE（2024）

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Bi-allelic Loss-of-function Variants in WBP4, Encoding a Spliceosome Protein, Result in a Variable Neurodevelopmental Syndrome

Eden Engal,Kaisa Teele Oja,Ophir Geminder,Thuy Linh Le,Naama Elefant, Naama Zvi,Maha Zaki,Joseph Gleeson,Tamar Harel,Orly Elpeleg,Kai Muru,Sander Pajusalu,Monica H. Wojcik,Reza Maroofian,Chris Gordon,Katrin Ounap,Maayan Salton,Hagar Mor-Shaked

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 9-9

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Calmodulinopathy Associated Long QT Syndrome, Hypertrophic Cardiomyopathy with Excessive Trabeculation in a 14-Year-old Girl Presenting with Ventricular Fibrillation

Ayelet Shauer,Smadar Horowitz-Cederboim,Hagar Mor-Shaked,Ronen Durst,Donna R. Zwas,Bernard Belhassen

Circulation Genomic and Precision Medicineno. 1 (2024)

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Unbiased Phenotype and Genotype Matching Maximizes Gene Discovery and Diagnostic Yield

GENETICS IN MEDICINEno. 4 (2024)

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Pathogenic Variants of Scavenger Receptor CD36 Lead to Decreased Efferocytosis and Predispose to Myocarditis Following Vaccination with Pfizer-BioNTech BNT162b2 Against Coronavirus Infection (COVID-19)

Christina Canavati, Ahmad Siam,Sapir Labes,Nirit Trabelsi, Eshcar Regev,Elchanan Parnasa,Barhoum,Nur Magadle,Ofer Perzon,Maya Braun,Hagar Mor-Shaked, Ora Schueler-Furman,Yuval Tabach,Dror Mevorach

Circulationno. 3 (2024): 270-273

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USP27X Variants Underlying X-linked Intellectual Disability Disrupt Protein Function Via Distinct Mechanisms

Intisar Koch, Maya Slovik, Yuling Zhang,Bingyu Liu,Martin Rennie, Emily Konz,Benjamin Cogne,Muhannad Daana, Laura Davids,Illja J. Diets,Nina B. Gold,Alexander M. Holtz,Bertrand Isidor,Hagar Mor-Shaked,Juanita Neira Fresneda,Karen Y. Niederhoffer,Mathilde Nizon,Rolph Pfundt, Meh Simon, Apa Stegmann,Maria J. Guillen Sacoto,Marijke Wevers,Tahsin Stefan Barakat,Shira Yanovsky-Dagan,Boyko S. Atanassov,Rachel Toth,Chengjiang Gao,Francisco Bustos,Tamar Harel

LIFE SCIENCE ALLIANCEno. 3 (2024)

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Complex Rearrangement in TBC1D4 in an Individual with Diabetes Due to Severe Insulin Resistance Syndrome

Avivit Cahn,Hagar Mor-Shaked, Hallel Rosenberg-Fogler,Rena Pollack,Bas Tolhuis,Gaurav Sharma,Eric Schultz,Shira Yanovsky-Dagan,Tamar Harel

European Journal of Human Geneticsno. 2 (2024): 232-237

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Semi-automated Genotype-Phenotype Matching Within a Database Identifies Candidate Disease Genes and Resolves Variants of Uncertain Significance

Yonatan Rips,Hagar Mor-Shaked, Ziv Lang,Shiri Gershon-Naamat,Orly Elpeleg,Tamar Harel

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 660-660

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A Neurodevelopmental Disorder Associated with a Loss-of-function Missense Mutation in RAB35

Adriana Aguila,Somaya Salah,Gopinath Kulasekaran, Moatasem Shweiki,Nava Shaul-Lotan,Hagar Mor-Shaked,Muhannad Daana,Tamar Harel,Peter S. McPherson

Journal of Biological Chemistrypp.107124, (2024)

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Intellectual Disability Syndrome Associated with a Homozygous Founder Variant in SGSM3 in Ashkenazi Jews

Journal of medical geneticspp.jmg-109504, (2023)

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