Associated Papers
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Neonatal-Onset Opsoclonus-Myoclonus-Ataxia-Like Syndrome Caused by De Novo FRMD5 Variant Responsive to IV Steroid Pulse Therapy: Case Report.
Gachechiladze T et al.
Neurology. Genetics, 2025
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.
Keller Sarmiento IJ et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
A Novel Type of Autosomal Dominant Episodic Nystagmus Segregating with a Variant in the FRMD5 Gene.
Hammar B et al.
Neuro-ophthalmology (aeolus Press), 2024
39583022 (PubMed )
Supplement: IOPH_A_2338562_SM5719.pdf
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Lu S et al.
American Journal of Human Genetics, 2022
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