Last Updated: 09/26/2026
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Found 29 publications
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Journal: The Journal of clinical investigation
Published: April 06, 2023
A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis.
Journal: Genes & diseases
Published: March 21, 2023
Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy.
Journal: Molecular genetics and metabolism
Published: January 15, 2021
Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 22, 2020
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 22, 2019
PEDIA: prioritization of exome data by image analysis.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 13, 2018
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 03, 2018
When moments matter: Finding answers with rapid exome sequencing.
Journal: Molecular genetics & genomic medicine
Published: August 06, 2018
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 29, 2018
Last Updated: 09/26/2026