Last Updated: 09/26/2026
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Found 66 publications
Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Journal: The Journal of clinical investigation
Published: November 03, 2025
A novel KDM5C variant corrects a previously erroneous diagnosis.
Journal: European journal of medical genetics
Published: December 03, 2024
A novel approach to metabolic profiling in case models of MECP2-related disorders.
Journal: Metabolic brain disease
Published: October 30, 2024
Optical genome mapping identifies rare structural variants in neural tube defects.
Journal: Genome research
Published: March 15, 2024
Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Journal: Frontiers in psychiatry
Published: January 24, 2024
Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.
Journal: Molecular and cellular endocrinology
Published: January 09, 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
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Journal: Frontiers in psychiatry
Published: October 25, 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
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Journal: The Journal of clinical investigation
Published: August 31, 2022
Last Updated: 09/26/2026