Jacek Pilch

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa et al. · Nature Genetics · 2012 · 243 citations

Mendelian Disorder, Genetic Disorder, Medicine +5

Rare variants in <i>SOS2</i> and <i>LZTR1</i> are associated with Noonan syndrome

Guilherme Lopes Yamamoto, Meire Aguena, Monika Goś et al. · Journal of Medical Genetics · 2015 · 237 citations · Full text

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 119 citations · Full text

Tricho-rhino-phalangeal Syndrome, Genetics, Genetic Epidemiology +1

Dominant <i>GDAP1</i> mutations cause predominantly mild CMT phenotypes

M. Zimoń, Jonathan Baets, Gian Maria Fabrizi et al. · Neurology · 2011 · 83 citations

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

Ewelina Elert‐Dobkowska, Iwona Stępniak, Wioletta Krysa et al. · Neurogenetics · 2019 · 50 citations · Full text