Elizabeth A. Sellars

Medical Genetics | Pediatrics

1 Childrens Way # 512-22
Little Rock, AR 72202

Last Updated: 09/26/2026

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Found 22 publications

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in monozygotic twins with a novel tumor protein p63 gene pathogenic variant.

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in monozygotic twins with a novel tumor protein p63 gene pathogenic variant.

Journal: JAAD case reports

Published: October 27, 2025

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

Journal: American journal of human genetics

Published: September 01, 2022

Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.

Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.

Journal: Journal of personalized medicine

Published: March 31, 2021

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

Journal: American journal of human genetics

Published: July 31, 2020

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

Journal: Science advances

Published: May 21, 2020

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

Journal: American journal of human genetics

Published: July 02, 2019

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Journal: Human mutation

Published: May 31, 2019

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.

Journal: Journal of human genetics

Published: May 01, 2018

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

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Journal: Human molecular genetics

Published: September 10, 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Journal: American journal of human genetics

Published: August 16, 2017

Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.

Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.

Journal: Neuropediatrics

Published: November 23, 2016

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Last Updated: 09/26/2026