Brad Angle

Brad Angle

Medical Genetics

1675 Dempster St
Park Ridge, IL 60068

Last Updated: 09/26/2026

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Found 24 publications

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

Journal: American journal of human genetics

Published: January 19, 2026

De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.

De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.

Journal: Genome medicine

Published: August 05, 2025

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

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

Published: January 13, 2025

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Journal: Research square

Published: October 16, 2023

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

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

Published: September 02, 2023

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Journal: Nature communications

Published: September 01, 2023

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

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

Published: January 27, 2022

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.

Journal: Prenatal diagnosis

Published: April 03, 2020

Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.

Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.

Journal: Journal of medical genetics

Published: September 12, 2019

Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool.

Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool.

Journal: American journal of medical genetics. Part A

Published: December 06, 2017

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Journal: American journal of medical genetics. Part A

Published: October 31, 2017

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

Journal: Human mutation

Published: July 26, 2016

Showing 1-12 of 24

Last Updated: 09/26/2026