Ikuko Kondo

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

S Nagafuchi, Hiroko Yanagisawa, Keiko Sato et al. · Nature Genetics · 1994 · 722 citations

Natural Sciences, Genetics, Pallidoluysian Atrophy Expansion +7

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

Kunio Kitamura, Masako Yanazawa, Noriyuki Sugiyama et al. · Nature Genetics · 2002 · 703 citations

Spermatogenesis, Knockout Mouse, Infertility +12

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

Keiko Kobayashi, David S. Sinasac, Mikio Iijima et al. · Nature Genetics · 1999 · 409 citations

Mitochondrial Biogenesis, Mitochondrial Function, Genetic Disorder +9

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

Frank Greenberg, Guzzetta, Montes de Oca-Luna R et al. · PubMed · 1991 · 348 citations

Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

Peter Thijssen, Yuya Ito, Giacomo Grillo et al. · Nature Communications · 2015 · 207 citations · Full text