Last Updated: 09/26/2026
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Found 66 publications
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.
Journal: HGG advances
Published: November 26, 2025
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: October 19, 2025
KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 17, 2025
Cellular Functional Analyses of ARX Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female Patients.
Journal: Human mutation
Published: July 17, 2025
Prenatal screening for trisomy 21 (Down syndrome) using first- and second-trimester biochemistry and nuchal translucency: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 13, 2025
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene.
Journal: American journal of medical genetics. Part A
Published: April 29, 2025
Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine.
Journal: The Journal of molecular diagnostics : JMD
Published: February 03, 2025
Constitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient With Aplastic Anemia.
Journal: American journal of medical genetics. Part A
Published: August 01, 2024
Cell-Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices and Patient Experiences.
Journal: Prenatal diagnosis
Published: June 28, 2024
Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome.
Journal: Frontiers in genetics
Published: May 20, 2024
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
Journal: medRxiv : the preprint server for health sciences
Published: April 08, 2024
Last Updated: 09/26/2026