Yael Y. Shiloh-Malawsky

Pediatric Neurology

101 Manning Dr
Chapel Hill, NC 27514

Last Updated: 09/26/2026

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Found 14 publications

New genotype-phenotype correlations and management recommendations for individuals with RERE variants.

New genotype-phenotype correlations and management recommendations for individuals with RERE variants.

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

Published: September 15, 2025

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Journal: Human molecular genetics

Published: June 10, 2025

Essential Components of Child Neurology Training: Program Director Consensus Recommendations.

Essential Components of Child Neurology Training: Program Director Consensus Recommendations.

Journal: Annals of the Child Neurology Society

Published: May 04, 2025

Long-Read Sequencing of a Neurodevelopmental Disorder Patient Reveals Complex Rearrangement Involving the ARID1B Gene.

Long-Read Sequencing of a Neurodevelopmental Disorder Patient Reveals Complex Rearrangement Involving the ARID1B Gene.

Journal: American journal of medical genetics. Part A

Published: April 28, 2025

A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization.

A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization.

Journal: Frontiers in cellular neuroscience

Published: July 15, 2023

Pharmacokinetics and Proposed Dosing of Levetiracetam in Children With Obesity.

Pharmacokinetics and Proposed Dosing of Levetiracetam in Children With Obesity.

Journal: The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG

Published: November 03, 2022

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Journal: JAMA neurology

Published: October 31, 2022

Correction to: DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder.

Correction to: DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder.

Journal: Journal of neurology

Published: June 21, 2021

Add-on cannabidiol in patients with Dravet syndrome: Results of a long-term open-label extension trial.

Add-on cannabidiol in patients with Dravet syndrome: Results of a long-term open-label extension trial.

Journal: Epilepsia

Published: June 03, 2021

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

Journal: Neurology. Genetics

Published: July 14, 2017

A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease.

A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease.

Journal: Journal of neurology

Published: January 19, 2015

GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia.

GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia.

Journal: Journal of neurology

Published: November 25, 2013

Showing 1-12 of 14

Last Updated: 09/26/2026