George E. Tiller

Medical Genetics | Pediatrics

4700 W Sunset Blvd
Los Angeles, CA 90027

Last Updated: 09/26/2026

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Found 13 publications

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 2025

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Journal: American journal of human genetics

Published: March 18, 2024

De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.

De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.

Journal: Pediatric neurology

Published: May 16, 2023

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: November 23, 2022

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

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

Published: September 06, 2020

PMM2-CDG caused by uniparental disomy: Case report and literature review.

PMM2-CDG caused by uniparental disomy: Case report and literature review.

Journal: JIMD reports

Published: November 30, 2019

Defining the clinical phenotype of Saul-Wilson syndrome.

Defining the clinical phenotype of Saul-Wilson syndrome.

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

Published: November 21, 2019

Prevalence of mutations in a diverse cohort of 3162 women tested via the same multigene cancer panel in a managed care health plan.

Prevalence of mutations in a diverse cohort of 3162 women tested via the same multigene cancer panel in a managed care health plan.

Journal: Journal of community genetics

Published: April 23, 2019

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Journal: American journal of human genetics

Published: May 28, 2018

Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.

Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.

Journal: Human molecular genetics

Published: May 29, 2017

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Journal: Journal of inherited metabolic disease

Published: December 05, 2016

Women's views and the impact of noninvasive prenatal testing on procedures in a managed care setting.

Women's views and the impact of noninvasive prenatal testing on procedures in a managed care setting.

Journal: Prenatal diagnosis

Published: July 16, 2014

Showing 1-12 of 13

Last Updated: 09/26/2026