Daphna R. Marom

Tel Aviv, TA, Israel

Last Updated: 09/26/2026

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Found 36 publications

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Journal: Journal of medical genetics

Published: June 07, 2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Journal: American journal of human genetics

Published: February 06, 2026

De novo variants in ATP2B1 lead to neurodevelopmental delay.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Journal: American journal of human genetics

Published: November 12, 2025

Diverse Genetic Etiologies of Unilateral Polymicrogyria.

Diverse Genetic Etiologies of Unilateral Polymicrogyria.

Journal: Annals of neurology

Published: May 20, 2025

Deletion of RAI1 noncoding exons 1-2 causes Smith-Magenis syndrome.

Deletion of RAI1 noncoding exons 1-2 causes Smith-Magenis syndrome.

Journal: Journal of genetics

Published: May 19, 2025

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic.

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic.

Journal: Movement disorders clinical practice

Published: December 05, 2024

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Journal: American journal of human genetics

Published: August 14, 2024

Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis.

Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis.

Journal: Journal of neurology

Published: March 21, 2024

Cardiac screening in pediatric patients with neurofibromatosis type 1: similarities with Noonan syndrome?

Cardiac screening in pediatric patients with neurofibromatosis type 1: similarities with Noonan syndrome?

Journal: The international journal of cardiovascular imaging

Published: February 24, 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

Telemedicine Versus Traditional In-Person Consultations: Comparison of Patient Satisfaction Rates.

Telemedicine Versus Traditional In-Person Consultations: Comparison of Patient Satisfaction Rates.

Journal: Telemedicine journal and e-health : the official journal of the American Telemedicine Association

Published: November 09, 2023

Utility of genetic testing in children with leukodystrophy.

Utility of genetic testing in children with leukodystrophy.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: February 04, 2023

Showing 1-12 of 36

Last Updated: 09/26/2026