A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution

A comprehensive genetic map of the human genome based on 5,264 microsatellites

Colette Dib, Sabine Fauré, Cécile Fizames et al. · Nature · 1996 · 3K citations

Life Sciences, Genetics, Molecular Genetics +12

A high-resolution recombination map of the human genome

Augustine Kong, Daníel F. Guðbjartsson, Jesús Sainz et al. · Nature Genetics · 2002 · 1.8K citations

Life Sciences, Genetics, Molecular Genetics +13

Homozygosity Mapping: A Way to Map Human Recessive Traits with the DNA of Inbred Children

Eric S. Lander, David Botstein · Science · 1987 · 886 citations

Life Sciences, Genetics, Molecular Genetics +17

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

Friedhelm Hildebrandt, Edgar A. Otto, Hans Gerd Nothwang et al. · Nature Genetics · 1997 · 352 citations

Life Sciences, Genetics, Nephrology +6

Juvenile Familial Nephropathy with Tapetoretinal Degeneration

B. Senior, A. I. Friedmann, J.L. Braudo · American Journal of Ophthalmology · 1961 · 287 citations

Medicine, Nephrology, Pediatrics +8