The medaka draft genome and insights into vertebrate genome evolution

Masahiro Kasahara, Kiyoshi Naruse, Shin Sasaki, +35

Nature

Comparative GenomicsGeneticsGenomicsMedaka GenomesPhylogenetics +19

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura, +47

Nature Genetics

Oculopharyngodistal MyopathyAutoimmune DiseaseNeurological DisorderMedicineOverlapping Disease +8

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui, +64

Nature Genetics

MedicineNeuroscienceNeuropathologyIntronic TttcaTttta Repeats +1

Human genetic variation database, a reference database of genetic variations in the Japanese population

Koichiro Higasa, Noriko Miyake, Jun Yoshimura, +28

Journal of Human Genetics

ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

Yuji Takahashi, Y. Fukuda, Jun Yoshimura, +35

The American Journal of Human Genetics

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisErbb4 MutationsGeneticsNeurology +4

Centromere evolution and CpG methylation during vertebrate speciation

Kazuki Ichikawa, Shingo Tomioka, Yuta Suzuki, +9

Nature Communications

Mutations in<i>MME</i>cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2

Yujiro Higuchi, Akihiro Hashiguchi, Jun‐Hui Yuan, +30

Annals of Neurology

A recurrent de novo <i>FAM111A</i> mutation causes kenny–caffey syndrome type 2

Tsuyoshi Isojima, Koichiro Doi, Jun Mitsui, +10

Journal of Bone and Mineral Research

A Novel Mutation in<i>ELOVL4</i>Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia

Kokoro Ozaki, Hiroshi Doi, Jun Mitsui, +20

JAMA Neurology

Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing

Koichiro Doi, Taku Monjo, Pham Huy Hoang, +9

Bioinformatics