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 · 506 citations · Full text

Signaling Pathway, Autoimmune Disease, Disease Mechanism +13

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

Brunhilde Wirth, Micaela A. Godoy Herz, A Wetter et al. · The American Journal of Human Genetics · 1999 · 361 citations · Full text

Rare Diseases, Genetic Disorder, Genetics +9

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 · 341 citations

Transcriptional Regulation, Immunogenetics, Autoimmune Disease +8

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 · 341 citations · Full text

Pkhd1 Mutations, Urology, Renal Disease +11

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

Eric Hahnen, Randolf Forkert, Christine Marke et al. · Human Molecular Genetics · 1995 · 286 citations