Last Updated: 09/26/2026
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Found 26 publications
Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings.
Journal: Journal of human genetics
Published: September 17, 2024
ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.
Journal: JCI insight
Published: August 01, 2023
Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation.
Journal: Molecular therapy. Methods & clinical development
Published: October 03, 2022
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.
Journal: Molecular genetics & genomic medicine
Published: November 17, 2021
COVID-19 in a child with severe propionic acidemia.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: September 30, 2020
A founder noncoding GALT variant interfering with splicing causes galactosemia.
Journal: Journal of inherited metabolic disease
Published: May 26, 2020
Gaucher disease and SARS-CoV-2 infection: Emerging management challenges.
Journal: Molecular genetics and metabolism
Published: April 20, 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 13, 2019
Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome.
Journal: American journal of medical genetics. Part A
Published: December 17, 2018
Uniparental Disomy Causing Myoclonus Dystonia Associated with Russell Silver Syndrome.
Journal: Movement disorders clinical practice
Published: November 30, 2018
Early-Onset Marfan Syndrome: A Case Series.
Journal: Journal of pediatric genetics
Published: August 08, 2018
Last Updated: 09/26/2026