Graciela K. Penchaszadeh

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

Rudolph E. Tanzi, Konstantin Petrukhin, Jean‐Luc Pellequer et al. · Nature Genetics · 1993 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +10

Trinucleotide repeat length instability and age of onset in Huntington's disease

Mabel P. Duyao, C M Ambrose, Richard H. Myers et al. · Nature Genetics · 1993 · 1.1K citations

Medicine, Genetics, Molecular Genetics +12

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

Sergey Kalachikov, Oleg V. Evgrafov, Barbara Ross et al. · Nature Genetics · 2002 · 625 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3

Linda M. Brzustowicz, Thomas Lehner, Lucio H. Castilla et al. · Nature · 1990 · 619 citations

Life Sciences, Genetics, Molecular Genetics +11

Mapping, cloning and genetic characterization of the region containing the Wilson disease gene

Konstantin Petrukhin, S G Fischer, Mario Pirastu et al. · Nature Genetics · 1993 · 509 citations

Life Sciences, Genetics, Molecular Genetics +8