Jacek Pilch
Medical University of Silesia(PL)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Genomic variations and chromosomal abnormalities, Neurogenetic and Muscular Disorders Research, Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology
Most-Cited Works
- → Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome(2012)243 cited
- → Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome(2015)240 cited
- → Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome(2015)119 cited
- → Dominant GDAP1 mutations cause predominantly mild CMT phenotypes(2011)84 cited
- → Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes(2019)51 cited
- → Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation(2018)47 cited
- → Cardiac phenotype in ATP1A3 -related syndromes(2020)43 cited
- → A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history(2017)41 cited
- → Mutations in COL1A1 and COL1A2 Genes Associated with Osteogenesis Imperfecta (OI) Types I or III.(2018)39 cited
- → The ARX mutations: A frequent cause of X‐linked mental retardation(2006)36 cited