Laurie A. Demmer

Medical Genetics | Pediatrics

1001 Blythe Blvd
Medical Center Plaza Suite 200
Charlotte, NC 28203

Last Updated: 09/26/2026

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Found 31 publications

Improving Health-Related Social Needs Screening and Support Across a Pediatric Health Care System.

Improving Health-Related Social Needs Screening and Support Across a Pediatric Health Care System.

Journal: Pediatrics

Published: November 20, 2024

Early genetic testing in pediatric epilepsy: Diagnostic and cost implications.

Early genetic testing in pediatric epilepsy: Diagnostic and cost implications.

Journal: Epilepsia open

Published: May 23, 2023

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

Journal: American journal of human genetics

Published: October 26, 2022

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

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

Published: May 26, 2021

Matthew-Wood Syndrome in Monochorionic, Diamnionic Twins.

Matthew-Wood Syndrome in Monochorionic, Diamnionic Twins.

Journal: Journal of pediatric genetics

Published: March 16, 2021

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.

Journal: Neurology. Genetics

Published: November 03, 2020

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.

Journal: Journal of medical genetics

Published: September 17, 2020

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.

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

Published: June 16, 2020

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.

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

Published: February 24, 2020

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.

Journal: American journal of human genetics

Published: September 27, 2019

Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.

Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.

Journal: Annals of neurology

Published: June 13, 2019

An unusual case of nephrotic syndrome in a microcephalic infant: Questions.

An unusual case of nephrotic syndrome in a microcephalic infant: Questions.

Journal: Pediatric nephrology (Berlin, Germany)

Published: March 27, 2019

Showing 1-12 of 31

Last Updated: 09/26/2026