Last Updated: 09/26/2026
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Found 14 publications
Domain specific phenotypic expansion associated with variants in MACF1.
Journal: medRxiv : the preprint server for health sciences
Published: July 16, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.
Journal: Brain communications
Published: January 13, 2025
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 07, 2024
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 07, 2023
Complete loss of the X-linked gene CASK causes severe cerebellar degeneration.
Journal: Journal of medical genetics
Published: July 29, 2021
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.
Journal: HGG advances
Published: March 05, 2021
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Journal: American journal of medical genetics. Part A
Published: August 28, 2020
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 17, 2018
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Journal: American journal of human genetics
Published: April 07, 2018
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.
Journal: Clinical genetics
Published: September 27, 2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Journal: American journal of human genetics
Published: May 16, 2017
Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?
Journal: American journal of medical genetics. Part A
Published: October 29, 2016
Last Updated: 09/26/2026