Daniela T. Pilz

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

David B. Simon, Ranjit S. Bindra, Traci A. Mansfield et al. · Nature Genetics · 1997 · 863 citations

Channelopathies, Genetic Disorder, Chloride Channel Gene +7

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Pia Østergaard, Michael A. Simpson, Fiona Connell et al. · Nature Genetics · 2011 · 494 citations

Hematological Malignancy, Genetic Disorder, Mixed-phenotype Acute Leukemia +8

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

Joseph D. Symonds, Sameer M. Zuberi, Kirsty Stewart et al. · Brain · 2019 · 433 citations · Full text

Population Children, Genetic Testing, Genetic Disorder +12

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation

Daniela T. Pilz · Human Molecular Genetics · 1998 · 351 citations · Full text

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

Katrina Tatton‐Brown, Sheila Seal, Elise Ruark et al. · Nature Genetics · 2014 · 349 citations · Full text

Down Syndrome, Chromatin, Developmental Biology +11