List of works - Shay Tzur

A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis.

scientific article published on 14 December 2016

A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder

scientific article published on 30 December 2017

A founder effect for p47(phox)Trp193Ter chronic granulomatous disease in Kavkazi Jews

scientific article published on 23 July 2015

A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals

scientific article published on December 2008

A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy

scientific article published on 20 February 2017

APOL1 Risk Variants Predict Histopathology and Progression to ESRD in HIV-Related Kidney Disease ⬇️

scientific article published on December 1, 2011

APOL1 allelic variants are associated with lower age of dialysis initiation and thereby increased dialysis vintage in African and Hispanic Americans with non-diabetic end-stage kidney disease ⬇️

scientific article published on February 22, 2012

Absence of APOL1 risk variants protects against HIV-associated nephropathy in the Ethiopian population

scientific article published on 3 October 2011

Adaptation of pelage color and pigment variations in Israeli subterranean blind mole rats, Spalax ehrenbergi [corrected]

scientific article

African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans

scientific article

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

scientific article published on 6 January 2015

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

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

scientific article published on 19 October 2018

Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease

scientific article

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

scientific article published on 7 September 2016

Correction: Adaptation of Pelage Color and Pigment Variations in Israeli Subterranean Blind Mole Rats, Spalax Ehrenbergi.

scientific article published on 6 August 2013

Correction: The Genographic Project Public Participation Mitochondrial DNA Database.

scientific article published on 28 September 2007

Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora

scientific article published in 2008

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.

scientific article published on 8 February 2017

Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5

scientific article published on 01 March 2015

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.

scientific article published on 6 June 2016

Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.

scientific article published on 13 May 2016

Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency

scientific article

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome

scientific article

Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency

scientific article

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing

scientific article

Lethal neonatal rigidity and multifocal seizure syndrome – Report of another family with a BRAT1 mutation

scientific article published on 29 November 2014

Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations ⬇️

scientific article published on October 31, 2012

Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers

scientific article

Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene

scientific article

Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia

scientific article published on 16 March 2015

No evidence from genome-wide data of a Khazar origin for the Ashkenazi Jews

scientific article

Phylogenetic applications of whole Y-chromosome sequences and the Near Eastern origin of Ashkenazi Levites

scientific article

Population genetics of chronic kidney disease: the evolving story of APOL1.

scientific article

Possible incipient sympatric ecological speciation in blind mole rats (Spalax).

scientific article published on 28 January 2013

The Genographic Project public participation mitochondrial DNA database

scientific article published in June 2007

The dawn of human matrilineal diversity

scientific article

The genetic variation in the R1a clade among the Ashkenazi Levites' Y chromosome

scientific article published on 2 November 2017

The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event ⬇️

scientific article

The population genetics of chronic kidney disease: insights from the MYH9–APOL1 locus ⬇️

scientific article published on May 3, 2011

UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE

scientific article published in April 2017

Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa

scientific article published on 19 December 2017

List of works by Shay Tzur

A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis.

A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder

A founder effect for p47(phox)Trp193Ter chronic granulomatous disease in Kavkazi Jews

A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals

A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy

APOL1 Risk Variants Predict Histopathology and Progression to ESRD in HIV-Related Kidney Disease ⬇️

APOL1 allelic variants are associated with lower age of dialysis initiation and thereby increased dialysis vintage in African and Hispanic Americans with non-diabetic end-stage kidney disease ⬇️

Absence of APOL1 risk variants protects against HIV-associated nephropathy in the Ethiopian population

Adaptation of pelage color and pigment variations in Israeli subterranean blind mole rats, Spalax ehrenbergi [corrected]

African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

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

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

Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

Correction: Adaptation of Pelage Color and Pigment Variations in Israeli Subterranean Blind Mole Rats, Spalax Ehrenbergi.

Correction: The Genographic Project Public Participation Mitochondrial DNA Database.

Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.

Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.

Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.

Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome

Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing

Lethal neonatal rigidity and multifocal seizure syndrome – Report of another family with a BRAT1 mutation

Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations ⬇️

Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers

Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene

Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia

No evidence from genome-wide data of a Khazar origin for the Ashkenazi Jews

Phylogenetic applications of whole Y-chromosome sequences and the Near Eastern origin of Ashkenazi Levites

Population genetics of chronic kidney disease: the evolving story of APOL1.

Possible incipient sympatric ecological speciation in blind mole rats (Spalax).

The Genographic Project public participation mitochondrial DNA database

The dawn of human matrilineal diversity

The genetic variation in the R1a clade among the Ashkenazi Levites' Y chromosome

The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event ⬇️

The population genetics of chronic kidney disease: insights from the MYH9–APOL1 locus ⬇️

UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE

Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa