Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Life Sciences, Genetics, Molecular Genetics +14

Faster sequential genetic linkage computations.

Robert W. Cottingham, Ramana M. Idury, Alejandro A. Schäffer · PubMed · 1993 · 1.4K citations

Life Sciences, Genetics, Genomic Data Analysis +7

Primary structure and functional characterization of a high-affinity glutamate transporter

Yoshikatsu Kanai, Matthias A. Hediger · Nature · 1992 · 1.3K citations

Life Sciences, Neurobiology, Neuroscience +15

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

HEREDITARY PELLAGRA-LIKE SKIN RASH WITH TEMPORARY CEREBELLAR ATAXIA, CONSTANT RENAL AMINO-ACIDURIA, AND OTHER BIZARRE BIOCHEMICAL FEATURES

D N Baron, C. E. Dent, Heather A. Harris et al. · The Lancet · 1956 · 414 citations

Medicine, Dermatology, Neurology +14