Shira Dagan-Yanovsky

Jerusalem, JM, Israel

Last Updated: 09/26/2026

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Found 22 publications

Allele-specific antisense oligonucleotide treatment rescues atad3-associated phenotype in zebrafish.

Allele-specific antisense oligonucleotide treatment rescues atad3-associated phenotype in zebrafish.

Journal: bioRxiv : the preprint server for biology
Published: June 04, 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

RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants.

RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants.

Journal: Clinical genetics
Published: February 27, 2025

Intronic IGF1R variant causing aberrant splicing, short stature, and neurological impairments.

Intronic IGF1R variant causing aberrant splicing, short stature, and neurological impairments.

Journal: Journal of molecular endocrinology
Published: January 07, 2025

Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer.

Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer.

Journal: Biochimica et biophysica acta. Molecular cell research
Published: November 28, 2024

Transcriptome analysis of atad3-null zebrafish embryos elucidates possible disease mechanisms.

Transcriptome analysis of atad3-null zebrafish embryos elucidates possible disease mechanisms.

Journal: Orphanet journal of rare diseases
Published: July 05, 2024

Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome.

Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome.

Journal: European journal of human genetics : EJHG
Published: August 20, 2023

Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.

Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 11, 2023

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.

Journal: Life science alliance
Published: July 07, 2023

Talin1 dysfunction is genetically linked to systemic capillary leak syndrome.

Talin1 dysfunction is genetically linked to systemic capillary leak syndrome.

Journal: JCI insight
Published: July 05, 2023

A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.

A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.

Journal: Clinical genetics
Published: August 04, 2022

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.

Journal: Journal of medical genetics
Published: March 15, 2022
Showing 1-12 of 22

Last Updated: 09/26/2026