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The Canadian Journal of Cardiology|January 29, 2025
Mitral Valve Prolapse Caused by TLL1 Gain-of-Function MutationNadav Agam, Vadim Dolgin, Artyom Star, et al.American Journal of Medical Genetics. Part A|August 24, 2023
Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutationOfek Freund, Baker Elsana, Nadav Agam, et al.Clinical Genetics|November 25, 2024
Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic ExpansionTomer Poleg, Regina Proskorovski-Ohayon, Vadim Dolgin, et al.NPJ Genomic Medicine|March 14, 2025
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretationTomer Poleg, Noam Hadar, Gali Heimer, et al.Journal of Clinical Medicine|January 25, 2025
Dialysis Patients' Evaluation of Lung Edema at Home Using a Mobile Phone Tele-Ultrasound Application: A Pilot StudyItamar Ben Shitrit, Aviya Kedmi, Khaled El Haj, et al.Journal of Cardiovascular Translational Research|November 16, 2023
Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic CardiomyopathyTomer Poleg, Marina Eskin-Schwartz, Regina Proskorovski-Ohayon, et al.Genes|March 28, 2026
Broadening the Phenotypic Spectrum of MAFB-Related Disease: Renal, Auricular, Ocular, and Nervous System InvolvementAviva Eliyahu, Danit Atias-Varon, Ortal Barel, et al.NPJ Genomic Medicine|October 10, 2025
A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variantMatan M Jean, Anan Yunis, Tzofit Elbaz-Biton, et al.Investigative Ophthalmology & Visual Science|April 13, 2026
The Genetic Landscape of Inherited Retinal Diseases in the Israeli PopulationSapir Shalom, Libe Gradstein, Eran Pras, et al.Human Genetics|April 12, 2024
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19Noam Hadar, Vadim Dolgin, Katya Oustinov, et al.Pageof 2