Last Updated: 09/26/2026
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Found 7 publications
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.
Journal: Frontiers in genetics
Published: March 21, 2023
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Journal: American journal of human genetics
Published: March 03, 2023
Validation of a predictive model for obstructive sleep apnea in people with Down syndrome.
Journal: American journal of medical genetics. Part A
Published: July 07, 2022
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Journal: American journal of human genetics
Published: April 15, 2022
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 05, 2021
Young Children With Gender Nonconforming Behaviors and Preferences.
Journal: Journal of developmental and behavioral pediatrics : JDBP
Published: September 25, 2018
Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2.
Journal: American journal of medical genetics. Part A
Published: January 25, 2017
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Last Updated: 09/26/2026