Daniela Tiaki Uehara

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto et al. · PLoS ONE · 2017 · 63 citations · Full text

Neurological Disorder, Genetics, Micpch Patients +18

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

David B. Beck, Mohammed A. Basar, Anthony J. Asmar et al. · Science Advances · 2021 · 47 citations · Full text

Genomic copy number alterations in non‐syndromic hearing loss

Carla Rosenberg, Érika L. Freitas, Daniela Tiaki Uehara et al. · Clinical Genetics · 2015 · 33 citations

Genetics, Genetic Epidemiology, Genomics +16

A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family

Daniela Tiaki Uehara, Érika L. Freitas, Leandro Ucela Alves et al. · Human Genome Variation · 2015 · 14 citations · Full text

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements

Daniela Tiaki Uehara, Shin Hayashi, Nobuhiko Okamoto et al. · Journal of Human Genetics · 2016 · 11 citations · Full text

Allelic Variant, Genetic Disorder, Genetics +7