Last Updated: 09/26/2026
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Found 15 publications
Clinical and Functional Characterization of Gain-of-Function ABL1 Variants Expands the Phenotypic Spectrum of CHDSKM.
Journal: American journal of medical genetics. Part A
Published: July 30, 2026
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Journal: American journal of human genetics
Published: March 18, 2024
Combining angiotensin receptor blockade and enzyme replacement therapy for vascular disease in mucopolysaccharidosis type I.
Journal: Molecular genetics and metabolism reports
Published: December 05, 2023
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
Journal: Genes
Published: October 26, 2021
m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome.
Journal: Cold Spring Harbor molecular case studies
Published: July 30, 2021
Evaluation of non-reducing end pathologic glycosaminoglycan detection method for monitoring therapeutic response to enzyme replacement therapy in human mucopolysaccharidosis I.
Journal: Molecular genetics and metabolism
Published: June 13, 2019
IRF2BPL Is Associated with Neurological Phenotypes.
Journal: American journal of human genetics
Published: September 08, 2018
IRF2BPL Is Associated with Neurological Phenotypes.
Journal: American journal of human genetics
Published: May 15, 2018
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 08, 2018
A Humoral Immune Response Alters the Distribution of Enzyme Replacement Therapy in Murine Mucopolysaccharidosis Type I.
Journal: Molecular therapy. Methods & clinical development
Published: April 05, 2017
Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs.
Journal: PloS one
Published: December 30, 2015
Last Updated: 09/26/2026