Cheryl Cytrynbaum

9PUBLICATIONS
49CO-AUTHORS
Infant and child healthSocial epidemiologyGene mappingPhotonics, optoelectronics and optical communicationsEpigenetics (incl. genome methylation and epigenomics)
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Publications (9)

|Oct 09, 2026
'A Constant Battle for Services': Parents' Experiences on Healthcare Services for Children With 22q11 Deletion Syndrome.

|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

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