Last Updated: 09/26/2026
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Found 14 publications
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.
Journal: medRxiv : the preprint server for health sciences
Published: April 29, 2025
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Journal: NPJ genomic medicine
Published: October 23, 2023
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Journal: Brain : a journal of neurology
Published: July 11, 2023
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Journal: European journal of human genetics : EJHG
Published: December 21, 2022
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Journal: NPJ genomic medicine
Published: December 15, 2022
Utility of genetic work-up for 46, XY patients with severe hypospadias.
Journal: Journal of pediatric urology
Published: August 15, 2022
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.
Journal: American journal of medical genetics. Part A
Published: August 06, 2022
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Journal: American journal of human genetics
Published: November 24, 2021
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.
Journal: NPJ genomic medicine
Published: October 13, 2021
Application of full-genome analysis to diagnose rare monogenic disorders.
Journal: NPJ genomic medicine
Published: May 29, 2020
NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot.
Journal: American journal of medical genetics. Part A
Published: September 12, 2017
Last Updated: 09/26/2026