Last Updated: 09/26/2026
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Found 8 publications
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
Journal: American journal of human genetics
Published: July 22, 2024
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Journal: Nature genetics
Published: June 16, 2024
H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.
Journal: American journal of medical genetics. Part A
Published: October 21, 2022
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Journal: American journal of medical genetics. Part A
Published: March 15, 2022
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 13, 2020
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 23, 2019
Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray.
Journal: Molecular cytogenetics
Published: July 15, 2013
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Last Updated: 09/26/2026