Jakub Klapecki

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

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Anne Gregor, Beate Albrecht, Ingrid Bader et al. · BMC Medical Genetics · 2011 · 121 citations · Full text

Novel mutation of <i>IL1RAPL1</i> gene in a nonspecific X‐linked mental retardation (MRX) family

Magdalena Nawara, Jakub Klapecki, Katarzyna Borg et al. · American Journal of Medical Genetics Part A · 2008 · 46 citations

Location and type of mutation in the <i>LIS1</i> gene do not predict phenotypic severity

G. Uyanık, Déborah Morris-Rosendahl, J. Stiegler et al. · Neurology · 2007 · 45 citations

Contribution of <i>RIT1</i> mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity

Monika Goś, Somayyeh Fahiminiya, Jarosław Poznański et al. · American Journal of Medical Genetics Part A · 2014 · 45 citations

Short Stature, Genetics, Genetic Epidemiology +24