S. Tzur

N. Orenstein, L. Basel-Salmon, S. Tzur, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

S. Scherer, D. Hébert, M. Shohat, 2018, Journal of Medical Genetics.

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

M. Duvdevani, G. Curhan, R. Belostotsky, 2020, The Journal of urology.

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

D. Behar, H. Mandel, D. Goldsher, 2015, Human Genetics.

Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.

D. Behar, M. Salmon-Divon, L. Basel‐Vanagaite, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

syndrome e Report of another family with a BRAT1 mutation

D. Behar, M. Salmon-Divon, L. Basel‐Vanagaite, 2015 .

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

D. Sharon, E. van Wijk, F. Cremers, 2018, Human molecular genetics.

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

D. Behar, S. Tzur, Rony Cohen, 2016, European Journal of Human Genetics.

The Genomic History of the Bronze Age Southern Levant

D. Reich, S. Mallick, N. Rohland, 2020, Cell.

Absence of APOL1 Risk Variants Protects against HIV-Associated Nephropathy in the Ethiopian Population

S. Rosset, D. Behar, K. Skorecki, 2011, American Journal of Nephrology.

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

D. Behar, L. de Vries, L. Basel‐Vanagaite, 2014, The Journal of clinical endocrinology and metabolism.

Odour–genes covariance within a natural population of subterranean Spalax galili blind mole rats

E. Nevo, G. Heth, S. Tzur, 2009 .

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

Y. Frishberg, S. Waldegger, A. Janecke, 2017, Human mutation.

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

Hiroshi I. Suzuki, P. Sharp, A. Nordgren, 2019, Nature Medicine.

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

Hiroshi I. Suzuki, P. Sharp, A. Nordgren, 2019, Nature Medicine.

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

S. Rosset, D. Behar, K. Skorecki, 2011, Nature Reviews Nephrology.

The dawn of human matrilineal diversity.

Jaume Bertranpetit, Saharon Rosset, David Comas, 2008, American journal of human genetics.

Strictly conserved tri-nucleotide motif “CAT” is associated with TAS DNA protein-binding sites in human mitochondrial DNA control region

S. Rosset, S. Tzur, Saharon Rosset, 2017, Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis.

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

S. Rosset, K. Skorecki, S. Tzur, 2012, BMC Nephrology.

Counting the Founders: The Matrilineal Genetic Ancestry of the Jewish Diaspora

S. Rosset, D. Gurwitz, R. Villems, 2008, PloS one.

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

K. Kidd, J. Kidd, J. Dausset, 2008, Proceedings of the National Academy of Sciences.

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

D. Behar, F. Glaser, M. Shohat, 2014, Journal of Lipid Research.

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

S. Rosset, D. Behar, C. Winkler, 2010, Human molecular genetics.

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

E. Nevo, A. Beiles, K. Wakamatsu, 2013, PloS one.

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

S. Rosset, D. Adu, K. Skorecki, 2012, Journal of nephrology.

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

T. Pandita, I. Thiffault, G. B. Schaefer, 2019, The Journal of clinical investigation.

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.

S. Rosset, K. Skorecki, S. Tzur, 2012, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

APOL 1 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

S. Rosset, K. Skorecki, S. Tzur, 2012 .

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

L. Wiesmüller, M. Salmon-Divon, G. Borck, 2017, The Journal of clinical endocrinology and metabolism.

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

Natalie M. Myres, S. Rosset, C. Bustamante, 2013, Nature Communications.

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

D. Gurwitz, R. Villems, T. Kivisild, 2006, American journal of human genetics.

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

L. Pagani, M. Metspalu, R. Villems, 2017, Scientific Reports.

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

M. Stoneking, K. Skorecki, R. Gavrieli, 2015, Blood cells, molecules & diseases.

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C

X. Puente, C. López-Otín, D. Behar, 2016, European Journal of Human Genetics.

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

F. Del Bene, T. Haaf, R. Maroofian, 2021, American journal of human genetics.

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

E. Nevo, A. Beiles, S. Tzur, 2013, Proceedings of the National Academy of Sciences.

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

S. Rosset, C. Langefeld, K. Skorecki, 2018, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

D. Behar, S. Tzur, C. Bormans, 2016, Genetics research.

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

D. Behar, S. Tzur, C. Bormans, 2016, Genetics research.

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

Ann Saada, S. Tzur, Liza Douiev, 2019, Neurochemical Research.

Mutations in TAX1BP3 Cause Dilated Cardiomyopathy with Septo‐Optic Dysplasia

D. Behar, D. Gaton, R. Kornowski, 2015, Human mutation.

Evaluation of an Automated Genome Interpretation Model for Rare Disease Routinely Used in a Clinical Genetic Lab.

F. Xia, C. Eng, Ido Machol, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

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

N. Shomron, I. Krause, S. Tzur, 2018, European Journal of Human Genetics.