Last Updated: 09/26/2026
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Found 63 publications
The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.
Journal: Genome medicine
Published: December 16, 2025
Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother.
Journal: American journal of medical genetics. Part A
Published: September 16, 2025
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.
Journal: American journal of medical genetics. Part A
Published: July 14, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
Journal: medRxiv : the preprint server for health sciences
Published: April 16, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
Journal: American journal of human genetics
Published: April 01, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 13, 2025
A Case Report of Primary Ovarian Failure in an Adolescent Associated With a Homozygous Pathogenic Variant in the Mitochondrial Poly-A-Polymerase Gene (MTPAP).
Journal: Journal of pediatric and adolescent gynecology
Published: January 12, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Journal: American journal of human genetics
Published: August 27, 2024
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Journal: American journal of human genetics
Published: July 24, 2024
Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.
Journal: The Journal of clinical investigation
Published: July 23, 2024
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry.
Journal: American journal of medical genetics. Part A
Published: May 21, 2024
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 10, 2024
Last Updated: 09/26/2026