Nada Farran-Danial

Afula, Z, Israel

Last Updated: 09/26/2026

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Found 21 publications

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Journal: Journal of medical genetics

Published: June 07, 2026

Autosomal Recessive Palmoplantar Epidermal Differentiation Disorder Caused by Homozygous Stop-Gain Variant in KRT16 Gene.

Autosomal Recessive Palmoplantar Epidermal Differentiation Disorder Caused by Homozygous Stop-Gain Variant in KRT16 Gene.

Journal: Pediatric dermatology

Published: January 25, 2026

Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification.

Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification.

Journal: Journal of medical genetics

Published: April 21, 2025

CARMIL2 deficiency disrupts activation-induced metabolic reprogramming in T cells and is partially rescued by glutamine supplementation.

CARMIL2 deficiency disrupts activation-induced metabolic reprogramming in T cells and is partially rescued by glutamine supplementation.

Journal: The Journal of allergy and clinical immunology

Published: February 20, 2025

Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene.

Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene.

Journal: JAMA dermatology

Published: March 27, 2024

Genetic variant in complement receptor 1 (CR1, CD35) is associated with a cluster of severe fatal COVID-19 in a family.

Genetic variant in complement receptor 1 (CR1, CD35) is associated with a cluster of severe fatal COVID-19 in a family.

Journal: The Journal of infection

Published: March 11, 2023

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.

Journal: American journal of human genetics

Published: January 09, 2023

Potential di-genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex.

Potential di-genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex.

Journal: Experimental dermatology

Published: May 10, 2022

A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.

A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.

Journal: Journal of medical genetics

Published: March 03, 2022

Parental mosaic cutaneous-gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis-deafness syndrome.

Parental mosaic cutaneous-gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis-deafness syndrome.

Journal: The Journal of dermatology

Published: August 29, 2021

Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor.

Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor.

Journal: Experimental dermatology

Published: June 22, 2021

The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.

The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.

Journal: Clinical genetics

Published: May 03, 2021

Showing 1-12 of 21

Last Updated: 09/26/2026