Cheryl Cytrynbaum

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 50 publications

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics

Published: August 08, 2025

Transition services in 22q11 deletion syndrome: Hit or miss.

Transition services in 22q11 deletion syndrome: Hit or miss.

Journal: Health care transitions

Published: May 26, 2025

Time poverty of families of children with 22q11DS: a healthcare professional perspective.

Time poverty of families of children with 22q11DS: a healthcare professional perspective.

Journal: BMC pediatrics

Published: January 14, 2025

Evaluating the relationship between caregiver depression, social support, and children's internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome.

Evaluating the relationship between caregiver depression, social support, and children's internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome.

Journal: Orphanet journal of rare diseases

Published: December 15, 2024

Psychopharmacology in children with genetic disorders of epigenetic and chromatin regulation.

Psychopharmacology in children with genetic disorders of epigenetic and chromatin regulation.

Journal: Journal of neurodevelopmental disorders

Published: November 27, 2024

Like milk on the stove: Healthcare professionals navigating uncertainty when caring for families with 22q11DS.

Like milk on the stove: Healthcare professionals navigating uncertainty when caring for families with 22q11DS.

Journal: PloS one

Published: July 16, 2024

The mental health and traumatic experiences of mothers of children with 22q11DS.

The mental health and traumatic experiences of mothers of children with 22q11DS.

Journal: European journal of psychotraumatology

Published: May 23, 2024

Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome.

Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome.

Journal: Pediatric blood & cancer

Published: April 15, 2024

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

Journal: American journal of medical genetics. Part A

Published: September 29, 2023

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

Journal: NPJ genomic medicine

Published: August 16, 2023

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.

Journal: American journal of human genetics

Published: May 25, 2023

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.

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

Published: April 21, 2023

Showing 1-12 of 50

Last Updated: 09/26/2026