Last Updated: 09/26/2026
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Found 47 publications
sortscore: Sort-seq MAVE scoring and visualization using Python.
Journal: Bioinformatics (Oxford, England)
Published: March 06, 2026
Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.
Journal: Human molecular genetics
Published: August 29, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Journal: medRxiv : the preprint server for health sciences
Published: July 17, 2025
Developing a genetic return of results service core.
Journal: Journal of clinical and translational science
Published: May 20, 2025
Heterozygous and Homozygous RFC1 AAGGG Repeat Expansions are Common in Idiopathic Peripheral Neuropathy.
Journal: medRxiv : the preprint server for health sciences
Published: May 02, 2025
Homozygous RFC1 AAGGG Repeat Expansions Are Common in Idiopathic Peripheral Neuropathy.
Journal: Annals of neurology
Published: April 11, 2025
Association of Social Determinants of Health With Genetic Test Request and Completion Rates in Children With Neurologic Disorders.
Journal: Neurology
Published: April 04, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Journal: EMBO molecular medicine
Published: March 26, 2025
Association of Social Determinants of Health With Genetic Test Request and Completion Rates in Children With Neurologic Disorders.
Journal: Neurology
Published: February 12, 2025
Finding buried genetic test results in the electronic health record is inefficient and variable across institutions.
Journal: Therapeutic advances in rare disease
Published: November 15, 2024
Last Updated: 09/26/2026