Published Papers & Misc - MITSUHASHI Satomi

Division display  1 - 20 of about 114 ／  All the affair displays >>

  1. Ohori S, Tsuburaya RS, Kinoshita M, Miyagi E, Mizuguchi T, Mitsuhashi S, Frith MC, Matsumoto N. Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder. Journal of human genetics. 2021.07; 66 (7): 697-705. ( PubMed, DOI )

  2. Matsuzawa Ayumi, Lee Jiyoung, Nakagawa So, Itoh Johbu, Takahashi Ueda Mahoko, Mitsuhashi Satomi, Kochi Yuta, Kaneko-Ishino Tomoko, Ishino Fumitoshi. HERV-Derived Ervpb1 Is Conserved in Simiiformes, Exhibiting Expression in Hematopoietic Cell Lineages Including Macrophages INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2021.05; 22 (9): ( PubMed, DOI )

  3. Mizuguchi Takeshi, Toyota Tomoko, Miyatake Satoko, Mitsuhashi Satomi, Doi Hiroshi, Kudo Yosuke, Kishida Hitaru, Hayashi Noriko, Tsuburaya Rie S., Kinoshita Masako, Fukuyama Tetsuhiro, Fukuda Hiromi, Koshimizu Eriko, Tsuchida Naomi, Uchiyama Yuri, Fujita Atsushi, Takata Atsushi, Miyake Noriko, Kato Mitsuhiro, Tanaka Fumiaki, Adachi Hiroaki, Matsumoto Naomichi. Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment BRAIN. 2021.04; 144 (4): 1103-1117. ( PubMed, DOI )

  4. Mitsuhashi Satomi, Nakagawa So, Sasaki-Honda Mitsuru, Sakurai Hidetoshi, Frith Martin C., Mitsuhashi Hiroaki. Nanopore direct RNA sequencing detects DUX4-activated repeats and isoforms in human muscle cells HUMAN MOLECULAR GENETICS. 2021.04; 30 (7): 552-563. ( PubMed, DOI )

  5. Mitsuhashi S, Frith MC, Matsumoto N. Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population. BMC medical genomics. 2021.01; 14 (1): 17. ( PubMed, DOI )

  6. Frith MC, Mitsuhashi S, Katoh K. lamassemble: Multiple Alignment and Consensus Sequence of Long Reads. Methods in molecular biology (Clifton, N.J.). 2021; 2231 135-145. ( PubMed, DOI )

  7. Hirabayashi A, Yahara K, Mitsuhashi S, Nakagawa S, Imanishi T, Ha VTT, Nguyen AV, Nguyen ST, Shibayama K, Suzuki M. Plasmid analysis of NDM metallo-β-lactamase-producing Enterobacterales isolated in Vietnam. PloS one. 2021; 16 (7): e0231119. ( PubMed, DOI )

  8. Hiromoto Y, Azuma Y, Suzuki Y, Hoshina M, Uchiyama Y, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kato M, Matsumoto N. Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia. Human genome variation. 2020.12; 7 (1): 43. ( PubMed, DOI )

  9. Aoi H, Mizuguchi T, Suzuki T, Makino S, Yamamoto Y, Takeda J, Maruyama Y, Seyama R, Takeuchi S, Uchiyama Y, Azuma Y, Hamanaka K, Fujita A, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A, Matsumoto N. Whole exome sequencing of fetal structural anomalies detected by ultrasonography. Journal of human genetics. 2020.11; ( PubMed, DOI )

  10. Sakamoto M, Iwama K, Sekiguchi F, Mashimo H, Kumada S, Ishigaki K, Okamoto N, Behnam M, Ghadami M, Koshimizu E, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Saitsu H, Miyake N, Matsumoto N. Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy. Journal of human genetics. 2020.10; ( PubMed, DOI )

  11. Sakamoto M, Kouhei D, Haniffa M, Silva S, Troncoso M, Santander P, Schonstedt V, Stecher X, Okamoto N, Hamanaka K, Mizuguchi T, Mitsuhashi S, Miyake N, Matsumoto N. A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction. Journal of human genetics. 2020.09; 65 (9): 751-757. ( PubMed, DOI )

  12. Nakashima M, Kato M, Matsukura M, Kira R, Ngu LH, Lichtenbelt KD, van Gassen KLI, Mitsuhashi S, Saitsu H, Matsumoto N. De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms. Journal of human genetics. 2020.09; 65 (9): 727-734. ( PubMed, DOI )

  13. Ueda Mahoko Takahashi, Kryukov Kirill, Mitsuhashi Satomi, Mitsuhashi Hiroaki, Imanishi Tadashi, Nakagawa So. Comprehensive genomic analysis reveals dynamic evolution of endogenous retroviruses that code for retroviral-like protein domains MOBILE DNA. 2020.09; 11 (1): 29. ( PubMed, DOI )

  14. Doi H, Okubo M, Fukai R, Fujita A, Mitsuhashi S, Takahashi K, Kunii M, Tada M, Fukuda H, Mizuguchi T, Miyatake S, Miyake N, Sone J, Sobue G, Takeuchi H, Matsumoto N, Tanaka F. Reply to "GGC Repeat Expansion of NOTCH2NLC is Rare in European Leukoencephalopathy". Annals of neurology. 2020.09; 88 (3): 642-643. ( PubMed, DOI )

  15. Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T, Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S, Matsumoto N. Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes. Journal of human genetics. 2020.09; 65 (9): 811. ( PubMed, DOI )

  16. Lei M, Liang D, Yang Y, Mitsuhashi S, Katoh K, Miyake N, Frith MC, Wu L, Matsumoto N. Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4. Journal of human genetics. 2020.08; 65 (8): 667-674. ( PubMed, DOI )

  17. Mitsuhashi S, Ohori S, Katoh K, Frith MC, Matsumoto N. A pipeline for complete characterization of complex germline rearrangements from long DNA reads. Genome medicine. 2020.07; 12 (1): 67. ( PubMed, DOI )

  18. Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N. Prenatal clinical manifestations in individuals with <i>COL4A1/2</i> variants. Journal of medical genetics. 2020.07; ( PubMed, DOI )

  19. Hamanaka K, Šikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Kuwabara S, Balog J, Nishino I, van der Maarel SM. Homozygous nonsense variant in <i>LRIF1</i> associated with facioscapulohumeral muscular dystrophy. Neurology. 2020.06; 94 (23): e2441-e2447. ( PubMed, DOI )

  20. Ohori S, Mitsuhashi S, Ben-Haim R, Heyman E, Sengoku T, Ogata K, Matsumoto N. A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly. Journal of human genetics. 2020.05; 65 (5): 481-485. ( PubMed, DOI )

< PREV - NEXT >

To the head of this page.▲