Jonathan Rips

Jerusalem, JM, Israel

Last Updated: 09/26/2026

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Found 20 publications

Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.

Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: July 06, 2026

When Fetal Anomalies Lead to Prognostic Clarification: An Underrecognized Application of Exome Sequencing.

When Fetal Anomalies Lead to Prognostic Clarification: An Underrecognized Application of Exome Sequencing.

Journal: Prenatal diagnosis
Published: April 06, 2026

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.

Journal: Biochemistry and biophysics reports
Published: June 18, 2025

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss-of-Function of DMRT2.

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss-of-Function of DMRT2.

Journal: American journal of medical genetics. Part A
Published: June 08, 2025

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

Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association.

Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 01, 2025

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

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

Homozygous Deletion of the Epigenetic Regulator PHF20 in Individuals With Neurodevelopmental Disorder.

Homozygous Deletion of the Epigenetic Regulator PHF20 in Individuals With Neurodevelopmental Disorder.

Journal: Human mutation
Published: February 24, 2025

Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives.

Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives.

Journal: Kidney international reports
Published: February 03, 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

Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.

Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.

Journal: EBioMedicine
Published: November 08, 2024
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Last Updated: 09/26/2026