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Stem Cell Research|July 14, 2022
Establishment of a human induced pluripotent stem cell line, KMUGMCi002-A, from a patient bearing a heterozygous c.6362_6364del mutation in the NIPBL gene leading Cornelia de Lange syndrome (CdLS)Hiroki Ura, Sumihito Togi, Yumiko Iwata, et al.
Cureus|September 26, 2024
Progressive Polycystic Kidney Disease in an Infant Girl With TSC2/PKD1 Contiguous Gene SyndromeKazuhiko Hashimoto, Takuya Hayashida, Yoshikazu Otsubo, et al.
Cytogenetic and Genome Research|April 16, 2018
Classification of Uniparental Isodisomy Patterns That Cause Autosomal Recessive Disorders: Proposed Mechanisms of Different Proportions and Parental Origin in Each PatternYo Niida, Mamoru Ozaki, Masaki Shimizu, et al.
Genes|November 25, 2023
SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group CFumie Nomura, Akira Shimizu, Sumihito Togi, et al.
Stem Cell Research|March 13, 2022
Establishment of a human induced pluripotent stem cell line, KMUGMCi001-A, from a patient bearing a heterozygous c.772 + 3_772 + 4dup mutation in the ACVRL1 gene leading Telangiectasia, hereditary hemorrhagic, type 2 (HHT2)Hiroki Ura, Sumihito Togi, Yumiko Iwata, et al.
Stem Cell Research|June 4, 2023
Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) geneHiroki Ura, Sumihito Togi, Mamoru Ozaki, et al.
Journal of Human Genetics|August 3, 2012
Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophyYo Niida, Mondo Kuroda, Yusuke Mitani, et al.
Stem Cell Research|April 6, 2023
Establishment of a human induced pluripotent stem cell line, KMUGMCi007-A, from a patient with prolidase deficiency (PD) bearing homozygous in-frame mutation in the PEPD geneHiroki Ura, Sumihito Togi, Mamoru Ozaki, et al.
Cytogenetic and Genome Research|October 25, 2016
Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the LiteratureYo Niida, Hitoshi Sato, Mamoru Ozaki, et al.
Congenital Anomalies|October 4, 2016
A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndromeYo Niida, Yusuke Mitani, Mondo Kuroda, et al.
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