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Publications
Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors. Journal of Genetic Counseling. 2025; 34:e1892.
Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report. Neurology: Genetics. 2024; 10:e200177.
An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders. American Journal of Medical Genetics, Part A. 2023; 191:2679-2692.
Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49-51 deletion phenotype. Molecular Genetics and Genomic Medicine. 2023; 11:e2088.
Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center. Frontiers in Genetics. 2022; 13:887698.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genetics in Medicine. 2021; 23:740-750.
Open communication of Duchenne muscular dystrophy facilitates disclosure process by parents to unaffected siblings. Journal of Genetic Counseling. 2021; 30:246-256.
The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2. Journal of Child Neurology. 2020; 35:283-290.
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