Parul B. Jayakar

Medical Genetics

3100 Sw 62nd Ave
Brain Institute
Miami, FL 33155

Last Updated: 09/26/2026

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Found 46 publications

VF Arrest at Rest in a Teenager With Anomalous Origin of Coronaries and DSG2 Variant.

VF Arrest at Rest in a Teenager With Anomalous Origin of Coronaries and DSG2 Variant.

Journal: JACC. Case reports

Published: January 22, 2026

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Journal: medRxiv : the preprint server for health sciences

Published: December 03, 2025

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Journal: Nature communications

Published: October 17, 2025

Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy.

Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy.

Journal: Nature cardiovascular research

Published: January 21, 2025

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Journal: HGG advances

Published: January 14, 2025

Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy.

Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy.

Journal: bioRxiv : the preprint server for biology

Published: January 13, 2025

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Journal: Nature genetics

Published: June 16, 2024

Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.

Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.

Journal: European journal of human genetics : EJHG

Published: April 26, 2024

Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.

Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.

Journal: Molecular genetics and metabolism

Published: April 02, 2024

The impact of clinical genome sequencing in a global population with suspected rare genetic disease.

The impact of clinical genome sequencing in a global population with suspected rare genetic disease.

Journal: American journal of human genetics

Published: November 27, 2023

De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.

De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.

Journal: European journal of human genetics : EJHG

Published: November 18, 2023

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Journal: Research square

Published: October 16, 2023

Showing 1-12 of 46

Last Updated: 09/26/2026