Last Updated: 09/26/2026
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Found 101 publications
Abidi Syndrome and Another Family With X-Linked Intellectual Disability Have TAF1 Variants and Reduced Phosphorylation of RNA Polymerase II Associated Protein 74.
Journal: American journal of medical genetics. Part A
Published: April 07, 2026
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: October 19, 2025
A novel KDM5C variant corrects a previously erroneous diagnosis.
Journal: European journal of medical genetics
Published: December 03, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Journal: Science (New York, N.Y.)
Published: May 02, 2024
Optical genome mapping identifies rare structural variants in neural tube defects.
Journal: Genome research
Published: March 15, 2024
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.
Journal: American journal of human genetics
Published: February 27, 2024
The contribution of de novo coding mutations to meningomyelocele.
Journal: Nature
Published: February 24, 2024
Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Journal: European journal of human genetics : EJHG
Published: December 01, 2023
Personal journeys to and in human genetics and dysmorphology.
Journal: American journal of medical genetics. Part A
Published: November 05, 2023
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 29, 2023
Last Updated: 09/26/2026