Keiko Wakui

Shinshu University — Japan

Biochemistry, Genetics and Molecular Biology · Life Sciences

38h-index5.1kcitations132works6.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(37), Chromosomal and Genetic Variations(14), Prenatal Screening and Diagnostics(13), Congenital heart defects research(11), Epigenetics and DNA Methylation(10)

Publications132 total

Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome
Genetics in Medicine Open·2024· 6 citedOpen Access
DNA methylation signature in <i>NSD2</i> loss-of-function variants appeared similar to that in Wolf-Hirschhorn syndrome
2023· 1 citedOpen Access
Supplementary Material for: Reanalysis of chromosomal microarray data using a smaller copy number variant call threshold identifies four cases with heterozygous multiexon deletions of ARID1B, EHMT1, and FOXP1 genes
Figshare·2023Open Access
Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes
Molecular Syndromology·2023Open Access
Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system
American Journal of Medical Genetics Part A·2022· 10 citedOpen Access
Neuropsychological and neurophysiological features of WAGR syndrome: Detailed comprehensive evaluation of a patient with severe intellectual disability and autism spectrum disorder
Brain and Development·2021· 1 citedOpen Access
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
Journal of Human Genetics·2021· 6 cited
Heterozygous missense variant in <scp><i>TRPC6</i></scp> in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis
American Journal of Medical Genetics Part A·2021· 7 cited
Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss
Genes·2019· 39 citedOpen Access
Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome
Journal of Human Genetics·2019· 20 cited
PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review
American Journal of Medical Genetics Part A·2019· 21 cited
Frequency and clinical features of hearing loss caused by STRC deletions
Scientific Reports·2019· 86 citedOpen Access
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Six Patients
57th Annual ESPE·2018
Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter
Human Genome Variation·2018Open Access
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients
The Journal of Clinical Endocrinology & Metabolism·2018· 40 citedOpen Access
A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8
Human Genome Variation·2017· 18 citedOpen Access
Clinical and molecular analyses on two Japanese families with spinocerebellar ataxia type 23
Journal of the Neurological Sciences·2017
<i>CTCF</i> deletion syndrome: clinical features and epigenetic delineation
Journal of Medical Genetics·2017· 26 citedOpen Access
Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration
European Journal of Medical Genetics·2017· 16 cited
Detection and Confirmation of Deafness-Causing Copy Number Variations in the <i>STRC</i> Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization
Annals of Otology Rhinology & Laryngology·2016· 40 citedOpen Access
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Frequent Co-authors

Yoshimitsu Fukushima(38), Tomoki Kosho(16), Hirofumi Ohashi(11), Norio Niikawa(10), Naomichi Matsumoto(7), Toshiro Nagai(6), Noriko Miyake(6), Lisa G. Shaffer(6), Tsutomu Ogata(6), Nobuhiko Okamoto(5), Takeo Kubota(5), Yoko Narumi(5), Yoshihiro Onouchi(4), Mayumi Yashiro(4), Yoshikazu Nakamura(4), Tomisaku Kawasaki(4), Akira Hata(4), Yoshinori Tsurusaki(4), Kenji Naritomi(4), Hiroshi Kawame(4)