Shay Tzur

Tel Aviv, TA, Israel

Last Updated: 09/26/2026

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Found 41 publications

Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory.

Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 08, 2022

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.

Journal: American journal of human genetics

Published: January 24, 2021

Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease.

Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease.

Journal: The Journal of urology

Published: December 22, 2020

Germline variant in REXO2 is a novel candidate gene in familial pheochromocytoma.

Germline variant in REXO2 is a novel candidate gene in familial pheochromocytoma.

Journal: Genetics research

Published: May 02, 2020

The Genomic History of the Bronze Age Southern Levant.

The Genomic History of the Bronze Age Southern Levant.

Journal: Cell

Published: September 25, 2019

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.

Journal: The Journal of clinical investigation

Published: June 18, 2019

Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.

Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.

Journal: Neurochemical research

Published: November 29, 2018

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: September 26, 2018

Big data analysis of human mitochondrial DNA substitution models: a regression approach.

Big data analysis of human mitochondrial DNA substitution models: a regression approach.

Journal: BMC genomics

Published: June 21, 2018

Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.

Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.

Journal: Journal of medical genetics

Published: April 10, 2018

Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation.

Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation.

Journal: European journal of human genetics : EJHG

Published: January 09, 2018

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.

Journal: Nature medicine

Published: December 04, 2017

Showing 1-12 of 41

Last Updated: 09/26/2026