Ginat Narkis

Beersheba, D 84105, Israel

Last Updated: 09/26/2026

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Found 14 publications

Xq26.2 Contiguous Gene Deletion Involving FRMD7 and IGSF1: Highly Penetrant Infantile Nystagmus with Variable Endocrine Involvement.

Xq26.2 Contiguous Gene Deletion Involving FRMD7 and IGSF1: Highly Penetrant Infantile Nystagmus with Variable Endocrine Involvement.

Journal: Genes

Published: July 15, 2026

A lethal form of ASCC3 disease: Severe global developmental delay, axial hypotonia, hypoplasia of corpus callosum, hypothyroidism, and micropenis.

A lethal form of ASCC3 disease: Severe global developmental delay, axial hypotonia, hypoplasia of corpus callosum, hypothyroidism, and micropenis.

Journal: HGG advances

Published: January 23, 2026

Monogenic Kidney Diseases in Children - Five Years of Experience from a Dedicated Nephrogenetic Clinic in Southern Israel

Monogenic Kidney Diseases in Children - Five Years of Experience from a Dedicated Nephrogenetic Clinic in Southern Israel

Journal: Harefuah

Published: December 25, 2025

FACS-based dual fluorescence reporter assay demonstrates efficacy of antisense oligonucleotide therapy of novel PRPF3 intronic splice variant.

FACS-based dual fluorescence reporter assay demonstrates efficacy of antisense oligonucleotide therapy of novel PRPF3 intronic splice variant.

Journal: Molecular therapy. Nucleic acids

Published: January 12, 2025

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant.

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant.

Journal: NPJ genomic medicine

Published: November 24, 2024

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.

Journal: JIMD reports

Published: November 09, 2024

Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases.

Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases.

Journal: Journal of human genetics

Published: November 26, 2023

VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.

VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.

Journal: Human genetics

Published: October 30, 2023

STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications.

STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications.

Journal: European journal of human genetics : EJHG

Published: January 08, 2023

A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.

A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.

Journal: BioMed research international

Published: March 31, 2017

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.

Journal: BMC medical genetics

Published: January 21, 2016

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A.

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A.

Journal: European journal of human genetics : EJHG

Published: May 24, 2014

Showing 1-12 of 14

Last Updated: 09/26/2026