Mordechai Shohat

6 Weizmann St
Tel Aviv, TA 64239, Israel

Last Updated: 09/26/2026

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Found 65 publications

CUL3-Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype.

CUL3-Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype.

Journal: Prenatal diagnosis

Published: November 15, 2025

Fetal Macrocephaly: Prenatal Findings and Follow-Up in Cases With High Risk for Abnormal Outcome.

Fetal Macrocephaly: Prenatal Findings and Follow-Up in Cases With High Risk for Abnormal Outcome.

Journal: Prenatal diagnosis

Published: October 10, 2025

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios.

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios.

Journal: Prenatal diagnosis

Published: July 27, 2025

A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis.

A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis.

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

Published: October 31, 2024

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

Journal: Brain : a journal of neurology

Published: October 03, 2024

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.

Journal: Orphanet journal of rare diseases

Published: August 24, 2024

Identification of a Mosaic Variant in the SYNCRIP Gene Causing Foetal Periventricular Nodular Heterotopia, Abnormal Sulcation and Infratentorial Anomaly.

Identification of a Mosaic Variant in the SYNCRIP Gene Causing Foetal Periventricular Nodular Heterotopia, Abnormal Sulcation and Infratentorial Anomaly.

Journal: Prenatal diagnosis

Published: July 10, 2024

2q13 Distal Microdeletion: Considering Evidence for an Emerging Syndrome Versus Susceptibility Locus: Twenty-Five New Cases and Review of the Literature.

2q13 Distal Microdeletion: Considering Evidence for an Emerging Syndrome Versus Susceptibility Locus: Twenty-Five New Cases and Review of the Literature.

Journal: American journal of medical genetics. Part A

Published: July 09, 2024

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

Journal: medRxiv : the preprint server for health sciences

Published: April 08, 2024

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.

Journal: Prenatal diagnosis

Published: January 14, 2024

A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum.

A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum.

Journal: Prenatal diagnosis

Published: December 12, 2023

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

Showing 1-12 of 65

Last Updated: 09/26/2026