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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 27, 2020
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunctionLisa Lenaerts, Sara Reynhout, Iris Verbinnen, et al.Genome Medicine|March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.Genome Medicine|March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.Medrxiv : the Preprint Server for Health Sciences|August 16, 2024
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathwaysFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.Nature Communications|April 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethalityFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.Pageof 2