Sabine Rudnik‐Schöneborn

PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats

Luiz F. Onuchic, Laszlo Furu, Yasuyuki Nagasawa et al. · The American Journal of Human Genetics · 2002 · 510 citations · Full text

Medicine, Genetics, Molecular Genetics +8

Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype Correlation, and Implications for Genetic Counseling

Micaela A. Godoy Herz, A Wetter, S. Moskau et al. · The American Journal of Human Genetics · 1999 · 364 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

Carsten Bergmann, Jan Senderek, Ellen Windelen et al. · Kidney International · 2005 · 348 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

Katja Grohmann, Markus Schuelke, Alexander Diers et al. · Nature Genetics · 2001 · 344 citations

Life Sciences, Genetics, Molecular Genetics +6

A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients

Klaus Zerres, Sabine Rudnik‐Schöneborn, Eric Forrest et al. · Journal of the Neurological Sciences · 1997 · 290 citations

Medicine, Neurology, Pediatrics +8