Ehud Banne

Holon, TA, Israel

Last Updated: 09/26/2026

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Found 27 publications

Deciphering a mechanistic basis for the pathological effect of the GNAO1 E246K variant in neurodevelopmental disorder.

Deciphering a mechanistic basis for the pathological effect of the GNAO1 E246K variant in neurodevelopmental disorder.

Journal: BBA advances
Published: December 02, 2025

Severe Recurrent Polyhydramnios as a Prenatal Signal of MAGED2-Related Bartter Syndrome: A Clinical Perspective.

Severe Recurrent Polyhydramnios as a Prenatal Signal of MAGED2-Related Bartter Syndrome: A Clinical Perspective.

Journal: Clinical medicine insights. Pediatrics
Published: September 26, 2025

Familial Steep Corneas in Posterior Polymorphous Corneal Dystrophy 3 Due to a Novel ZEB1 Gene Mutation.

Familial Steep Corneas in Posterior Polymorphous Corneal Dystrophy 3 Due to a Novel ZEB1 Gene Mutation.

Journal: Cornea
Published: August 02, 2024

National Rapid Genome Sequencing in Neonatal Intensive Care.

National Rapid Genome Sequencing in Neonatal Intensive Care.

Journal: JAMA network open
Published: February 22, 2024

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Journal: American journal of human genetics
Published: December 08, 2023

Autosomal Dominant, Long-Standing Dysglycemia in 2 Families with Unique Phenotypic Features.

Autosomal Dominant, Long-Standing Dysglycemia in 2 Families with Unique Phenotypic Features.

Journal: Clinical medicine insights. Endocrinology and diabetes
Published: October 18, 2023

Glycerol Phenylbutyrate Treatment of 2 Patients With Monocarboxylate Transporter 8 Deficiency.

Glycerol Phenylbutyrate Treatment of 2 Patients With Monocarboxylate Transporter 8 Deficiency.

Journal: The Journal of clinical endocrinology and metabolism
Published: October 15, 2023

Clinical characteristics of a large familial cohort with Medullary thyroid cancer and germline Cys618Arg RET mutation in an Israeli multicenter study.

Clinical characteristics of a large familial cohort with Medullary thyroid cancer and germline Cys618Arg RET mutation in an Israeli multicenter study.

Journal: Frontiers in endocrinology
Published: July 27, 2023

Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Journal: Nature communications
Published: June 15, 2023

"Virtual patch clamp analysis" for predicting the functional significance of pathogenic variants in sodium channels.

"Virtual patch clamp analysis" for predicting the functional significance of pathogenic variants in sodium channels.

Journal: Epilepsy research
Published: May 31, 2022

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Journal: Nature communications
Published: April 03, 2022

Novel Calcium-Sensing Receptor (CASR) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics.

Novel Calcium-Sensing Receptor (CASR) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics.

Journal: Hormone research in paediatrics
Published: January 30, 2022
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Last Updated: 09/26/2026