Thomas Eggermann

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

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

Robert Kleta, Elisa Romeo, Zorica Ristic et al. · Nature Genetics · 2004 · 308 citations · Full text

Mendelian Disorder, Genetic Disorder, Cause Hartnup Disorder +7

Genetic loci influencing kidney function and chronic kidney disease

John C. Chambers, Weihua Zhang, Graham M. Lord et al. · Nature Genetics · 2010 · 266 citations · Full text

Medicine, Genetics, Renal Pathology +6

Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21–cen

Klaus Zerres, Gabi Mücher, L Bachner et al. · Nature Genetics · 1994 · 258 citations

Mendelian Disorder, Genetic Disorder, Medicine +11

Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)

Carsten Bergmann, Jan Senderek, Beate Sedlacek et al. · Journal of the American Society of Nephrology · 2003 · 223 citations