Last Updated: 09/26/2026
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Found 54 publications
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.
Journal: European journal of human genetics : EJHG
Published: May 01, 2025
Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability.
Journal: Clinical genetics
Published: November 25, 2024
Optical genome mapping identifies rare structural variants in neural tube defects.
Journal: Genome research
Published: March 15, 2024
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.
Journal: HGG advances
Published: January 23, 2024
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
Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic Testing.
Journal: The Journal of molecular diagnostics : JMD
Published: June 12, 2023
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.
Journal: American journal of medical genetics. Part A
Published: May 24, 2023
Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers.
Journal: Cancers
Published: April 09, 2023
Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.
Journal: Clinical genetics
Published: February 25, 2023
Last Updated: 09/26/2026