Cheryl Cytrynbaum

8PUBLICATIONS
43CO-AUTHORS
Social epidemiologyGene mappingPhotonics, optoelectronics and optical communicationsEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseases
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Publications (8)

|Mar 01, 2024
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak

|Nov 10, 2023
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

Leanne de Kock, Alexanne Cuillerier, Meredith Gillespie

|Dec 08, 2022
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Ashish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy

|Dec 13, 2019
Epigenetic signatures in overgrowth syndromes: Translational opportunities.

Cheryl Cytrynbaum, Sanaa Choufani, Rosanna Weksberg

|Oct 12, 2019
A large data resource of genomic copy number variation across neurodevelopmental disorders.

Mehdi Zarrei, Christie L Burton, Worrawat Engchuan

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