Last Updated: 09/26/2026
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Found 38 publications
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: October 19, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.
Journal: European journal of human genetics : EJHG
Published: May 01, 2025
A clinical and genotype-phenotype analysis of MACF1 variants.
Journal: American journal of human genetics
Published: January 10, 2025
Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup.
Journal: Journal of the American Medical Informatics Association : JAMIA
Published: February 11, 2023
Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations.
Journal: Cytogenetic and genome research
Published: January 20, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: November 23, 2022
PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation.
Journal: Disease models & mechanisms
Published: November 10, 2022
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Journal: Human molecular genetics
Published: October 05, 2022
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 11, 2022
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
Journal: American journal of medical genetics. Part A
Published: March 22, 2022
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Journal: Human molecular genetics
Published: March 14, 2022
Structural model of human PORCN illuminates disease-associated variants and drug-binding sites.
Journal: Journal of cell science
Published: September 16, 2021
Last Updated: 09/26/2026