Orly Elpeleg

Med. Ctr
Jerusalem, JM, Israel

Last Updated: 09/26/2026

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Found 181 publications

Addendum to Nociception and pain in humans lacking a functional TRPV1 channel.

Addendum to Nociception and pain in humans lacking a functional TRPV1 channel.

Journal: The Journal of clinical investigation

Published: April 01, 2026

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics.

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics.

Journal: Clinical genetics

Published: May 18, 2025

Long-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly.

Long-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly.

Journal: American journal of medical genetics. Part A

Published: April 21, 2025

Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome.

Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome.

Journal: European journal of human genetics : EJHG

Published: November 20, 2024

EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.

EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.

Journal: Brain : a journal of neurology

Published: September 06, 2024

EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.

EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.

Journal: Brain : a journal of neurology

Published: September 06, 2024

Mutations in the kinesin KIF12 promote MASH in humans and mice by disrupting lipogenic enzyme turnover.

Mutations in the kinesin KIF12 promote MASH in humans and mice by disrupting lipogenic enzyme turnover.

Journal: The EMBO journal

Published: May 14, 2024

Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.

Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.

Journal: Brain communications

Published: May 01, 2024

A pathogenic variant of AMOT leads to isolated X-linked congenital hydrocephalus due to N-terminal truncation.

A pathogenic variant of AMOT leads to isolated X-linked congenital hydrocephalus due to N-terminal truncation.

Journal: The Journal of clinical investigation

Published: February 21, 2024

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 18, 2023

Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondria.

Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondria.

Journal: The FEBS journal

Published: December 06, 2023

De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.

De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.

Journal: Brain : a journal of neurology

Published: November 06, 2023

Showing 1-12 of 181

Last Updated: 09/26/2026