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Eriko Koshimizu · SciRah

Researcher profile · Semantic Scholar

Eriko Koshimizu

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Eriko Koshimizu — researcher profile on SciRah

h-index: 33
Works: 123
Citations: 3,570

Most-cited papers

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
F. Sekiguchi, Y. Tsurusaki, N. Okamoto, K. W. Teik +75 more
2019Journal of Human Genetics64 citations Open access
Semantic Scholar
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
S. Miyatake, Eriko Koshimizu, Atsushi Fujita, H. Doi +25 more
2022npj Genomic Medicine61 citations Open access
Semantic Scholar
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
A. Takata, M. Nakashima, H. Saitsu, T. Mizuguchi +61 more
2019Nature Communications61 citations Open access
Semantic Scholar
A Y-linked anti-Müllerian hormone type-II receptor is the sex-determining gene in ayu, Plecoglossus altivelis
M. Nakamoto, Tsubasa Uchino, Eriko Koshimizu, Yudai Kuchiishi +8 more
2021PLoS Genetics53 citations Open access
Semantic Scholar
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
Hiromi Aoi, T. Mizuguchi, J. Ceroni, V. Kim +18 more
2019Journal of Human Genetics52 citations
Semantic Scholar
Homozygous splicing mutation in NUP133 causes Galloway–Mowat syndrome
Atsushi Fujita, H. Tsukaguchi, Eriko Koshimizu, H. Nakazato +12 more
2018Annals of Neurology52 citations
Semantic Scholar
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Y. Murakami, T. Nguyen, N. Baratang, P. K. Raju +41 more
2019American Journal of Human Genetics51 citations Open access
Semantic Scholar
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.
K. Hamanaka, E. Imagawa, Eriko Koshimizu, S. Miyatake +20 more
2020American Journal of Human Genetics43 citations Open access
Semantic Scholar
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
T. Mizuguchi, T. Toyota, S. Miyatake, S. Mitsuhashi +18 more
2021Brain : a journal of neurology42 citations Open access
Semantic Scholar
Prenatal clinical manifestations in individuals with COL4A1/2 variants
T. Itai, S. Miyatake, M. Taguri, F. Nozaki +71 more
2020Journal of Medical Genetics40 citations
Semantic Scholar
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.
N. Miyake, Hidehisa Takahashi, Kazuyuki Nakamura, B. Isidor +19 more
2019American Journal of Human Genetics40 citations Open access
Semantic Scholar
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
K. Hamanaka, N. Miyake, T. Mizuguchi, S. Miyatake +23 more
2022Genome Medicine39 citations Open access
Semantic Scholar
Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing
Hiromi Fukuda, Daisuke Yamaguchi, Kristofor Nyquist, Y. Yabuki +20 more
2021Clinical Epigenetics37 citations Open access
Semantic Scholar
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy
K. Hamanaka, S. Miyatake, Eriko Koshimizu, Y. Tsurusaki +18 more
2018Genetics in Medicine37 citations Open access
Semantic Scholar
Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease
Laura Kytövuori, J. Sipilä, H. Doi, Anri Hurme-Niiranen +6 more
2022npj Parkinson's Disease35 citations Open access
Semantic Scholar
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.
S. Miyatake, Kunihiro Yoshida, Eriko Koshimizu, H. Doi +32 more
2022Brain : a journal of neurology33 citations Open access
Semantic Scholar
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
K. Hamanaka, A. Takata, Y. Uchiyama, S. Miyatake +19 more
2019Human Molecular Genetics33 citations
Semantic Scholar
Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans
K. Hamanaka, D. Yamauchi, Eriko Koshimizu, K. Watase +10 more
2023Genome Research30 citations Open access
Semantic Scholar
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses
Y. Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, S. Miyatake +60 more
2020Human Mutation30 citations Open access
Semantic Scholar
De novo ATP1A3 variants cause polymicrogyria
S. Miyatake, M. Kato, Takuma Kumamoto, Tomonori Hirose +45 more
2021Science Advances29 citations Open access
Semantic Scholar
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms
Rie Seyama, N. Tsuchida, Y. Okada, Sonoko Sakata +14 more
2021Journal of Human Genetics25 citations
Semantic Scholar
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy
T. Itai, K. Hamanaka, K. Sasaki, M. Wagner +29 more
2020Human Mutation25 citations
Semantic Scholar
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy
M. Sakamoto, Kazuhiro Iwama, F. Sekiguchi, H. Mashimo +13 more
2020Journal of Human Genetics24 citations
Semantic Scholar
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy
Ken Saida, J. Tamaoki, M. Sasaki, M. Haniffa +16 more
2021Clinical Genetics23 citations
Semantic Scholar
Association of biallelic RFC1 expansion with early‐onset Parkinson's disease
P. Ylikotila, J. Sipilä, T. Alapirtti, Riitta Ahmasalo +9 more
2023European Journal of Neurology22 citations Open access
Semantic Scholar
Molecular diagnosis of 405 individuals with autism spectrum disorder
N. Miyake, Y. Tsurusaki, R. Fukai, I. Kushima +44 more
2023European Journal of Human Genetics22 citations Open access
Semantic Scholar
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.
M. Sakamoto, K. Sasaki, A. Sugie, Yohei Nitta +21 more
2021Human Molecular Genetics21 citations Open access
Semantic Scholar
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
Ambrin Fatima, Jan Hoeber, J. Schuster, Eriko Koshimizu +22 more
2021American Journal of Human Genetics19 citations Open access
Semantic Scholar
Whole exome sequencing of fetal structural anomalies detected by ultrasonography
Hiromi Aoi, T. Mizuguchi, Toshifumi Suzuki, S. Makino +17 more
2020Journal of Human Genetics19 citations
Semantic Scholar
A homozygous NOP14 variant is likely to cause recurrent pregnancy loss
Toshifumi Suzuki, M. Behnam, F. Ronasian, Mansoor Salehi +11 more
2018Journal of Human Genetics19 citations
Semantic Scholar
Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy
S. Ohori, A. Miyauchi, H. Osaka, C. Lourenço +18 more
2023Life Science Alliance18 citations Open access
Semantic Scholar
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese
S. Miyatake, Hiroshi Doi, Hiroaki Yaguchi, Eriko Koshimizu +31 more
2024Journal of Neurology Neurosurgery & Psychiatry16 citations Open access
Semantic Scholar
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
D. Lehalle, Pierre Vabres, A. Sorlin, T. Bierhals +47 more
2020Journal of Medical Genetics16 citations Open access
Semantic Scholar
A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in Japan.
Miyuki Hoshi, Eriko Koshimizu, S. Miyatake, N. Matsumoto +1 more
2019Brain & development (Tokyo. 1979)14 citations
Semantic Scholar
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
Yasuhiro Utsuno, Keisuke Hamada, K. Hamanaka, Keita Miyoshi +15 more
2023Journal of Human Genetics13 citations
Semantic Scholar
Novel CLTC variants cause new brain and kidney phenotypes
T. Itai, S. Miyatake, N. Tsuchida, Ken Saida +11 more
2021Journal of Human Genetics13 citations
Semantic Scholar
A familial case of PDE10A‐associated childhood‐onset chorea with bilateral striatal lesions
S. Miyatake, Eriko Koshimizu, Ikuko Shirai, S. Kumada +7 more
2018Movement Disorders13 citations
Semantic Scholar
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia
Y. Nakamura, I. S. Shimada, R. Maroofian, M. Falabella +59 more
2024Brain : a journal of neurology12 citations Open access
Semantic Scholar
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features
Shinichi Kameyama, T. Mizuguchi, Hiromi Fukuda, L. Moey +9 more
2021Journal of Human Genetics12 citations
Semantic Scholar
RNA Foci in Two bi‐Allelic RFC1 Expansion Carriers
Taishi Wada, Hiroshi Doi, Masaki Okubo, Mikiko Tada +21 more
2023Annals of Neurology11 citations
Semantic Scholar
SOFT syndrome in a patient from Chile
Ken Saida, Sebastián Silva, Benjamín Solar, Atsushi Fujita +8 more
2019American Journal of Medical Genetics. Part A11 citations Open access
Semantic Scholar
A novel NONO variant that causes developmental delay and cardiac phenotypes
T. Itai, A. Sugie, Yohei Nitta, Ryuto Maki +17 more
2023Scientific Reports9 citations Open access
Semantic Scholar
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability
Yuta Inoue, N. Tsuchida, C. A. Kim, Bruno de Oliveira Stephan +11 more
2024Journal of Human Genetics8 citations
Semantic Scholar
A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association
Rie Seyama, M. Nishikawa, Y. Uchiyama, K. Hamada +19 more
2023Scientific Reports8 citations Open access
Semantic Scholar
A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria
M. Ogasawara, Takashi Saito, Eriko Koshimizu, Noriyuki Akasaka +1 more
2019Neuropediatrics8 citations
Semantic Scholar
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.
Rie Seyama, Y. Uchiyama, J. Ceroni, V. Kim +18 more
2022Genomics7 citations Open access
Semantic Scholar
Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype.
Shinichi Kameyama, T. Mizuguchi, H. Doi, S. Koyano +14 more
2022Genomics7 citations Open access
Semantic Scholar
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay
K. Hamanaka, Atsushi Fujita, S. Miyatake, K. Misawa +63 more
2025npj Genomic Medicine6 citations Open access
Semantic Scholar
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias
Hiromi Fukuda, T. Mizuguchi, H. Doi, Shinichi Kameyama +16 more
2023Journal of Human Genetics6 citations
Semantic Scholar
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities
M. Sakamoto, K. Kurosawa, K. Tanoue, Kazuhiro Iwama +11 more
2023Journal of Human Genetics6 citations
Semantic Scholar

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