Mutations in the chromatin-associated protein ATRX
2008 · Human Mutation · 184 citations
https://doi.org/10.1002/humu.20734
T
Takahito Wada
Kyoto University(JP)
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Takahito Wada is an academic researcher from Kyoto University. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Epigenetics and DNA Methylation & Prenatal Screening and Diagnostics. The author has an h-index of 24, co-authored 101 publications.
ORCID: 0000-0002-9540-1354Papers by this author
worksTargeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome
2018 · Nature Medicine · 92 citations
https://doi.org/10.1038/s41591-018-0018-6
Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked α-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X
2005 · American Journal of Medical Genetics Part A · 25 citations
https://doi.org/10.1002/ajmg.a.30901
Pharmacological prospects of G-quadruplexes for neurological diseases using porphyrins
2020 · Biochemical and Biophysical Research Communications · 21 citations
https://doi.org/10.1016/j.bbrc.2020.01.054
A new detection method for <i>ATRX</i> gene mutations using a mismatch‐specific endonuclease
2006 · American Journal of Medical Genetics Part A · 16 citations
https://doi.org/10.1002/ajmg.a.31310
Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8
2013 · Brain and Development · 16 citations
https://doi.org/10.1016/j.braindev.2013.08.004
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