Rudolf Funke

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

Roser Ufartes, Hanna Berger, Katharina Till et al. · Human Genetics · 2020 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22

Franziska Schnabel, Mateja Smogavec, Rudolf Funke et al. · Molecular Cytogenetics · 2018 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes

Silke Pauli, Thomas M. Schmidt, Rudolf Funke et al. · European Journal of Medical Genetics · 2012 · 15 citations

Life Sciences, Genetics, Molecular Genetics +16

A Novel Mutation in <b><i>PIGA</i></b> Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia

Christiane Neuhofer, Rudolf Funke, Bernd Wilken et al. · Molecular Syndromology · 2020 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum

Julia Schmidt, Steffi Dreha‐Kulaczewski, Maria-Patapia Zafeiriou et al. · Frontiers in Cell and Developmental Biology · 2022 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14