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 · 870 citations

Life Sciences, Genetics, Molecular Genetics +13

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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 · 503 citations

Life Sciences, Genetics, Molecular Genetics +10

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 · 454 citations · Full text

Medicine, Genetics, Pediatrics +17

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 · 362 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16