Last Updated: 09/26/2026
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Found 22 publications
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: October 19, 2025
Domain-specific mechanisms of YAP1 variants in ocular coloboma revealed by in-vitro and organoid studies.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: October 08, 2025
Expansion of genotype/phenotype correlation in an individual with compound heterozygous variants in CYP51A1 and congenital cataract.
Journal: Molecular genetics and metabolism
Published: July 16, 2025
A clinical and genotype-phenotype analysis of MACF1 variants.
Journal: American journal of human genetics
Published: January 10, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Journal: Nature genetics
Published: June 16, 2024
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Journal: American journal of human genetics
Published: August 06, 2023
Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay.
Journal: Cold Spring Harbor molecular case studies
Published: March 18, 2023
RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy.
Journal: Clinical case reports
Published: January 11, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: November 23, 2022
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
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 07, 2022
Last Updated: 09/26/2026