Publications
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Author Title [ Year] Filters: Keyword is Female and Author is Donkervoort, Sandra [Clear All Filters]
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun 12, 2558 (2021).
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. Am J Med Genet A 182, 2272-2283 (2020).
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. Muscle Nerve 59, 357-362 (2019).
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. Am J Hum Genet 102, 858-873 (2018).
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. Am J Hum Genet 99, 1086-1105 (2016).