Rebecca Levy

9PUBLICATIONS
68CO-AUTHORS
NeurogeneticsGene mappingDevelopmental genetics (incl. sex determination)Disease surveillanceEpigenetics (incl. genome methylation and epigenomics)
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Publications (9)

|Jul 09, 2026
Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statement.

|Apr 20, 2026
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.

|Apr 08, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Rocio Rius, Alexander J M Blakes, Yuyang Chen

|Mar 13, 2026
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.

Aya Abu-El-Haija, Allan Bayat, Hanifenur Mancılar

|Sep 09, 2024
Pearls & Oy-sters: Exquisite Response of Sleep-Related Hypermotor Epilepsy to a Nicotine Patch.

Spencer Nam, Erica L Von Stein, Kimford J Meador

|Mar 04, 2022
Delineating the epilepsy phenotype of NGLY1 deficiency.

Rebecca J Levy, Christina H Frater, William B Gallentine

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Frequent Collaborators

3 joint publications

Jonathan A Bernstein

3 joint publications

Melanie O'Leary

3 joint publications

Matthew T Wheeler

2 joint publications

Hyung Chul Kim