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Author/Creator Sakamoto, Masamune

1. De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality. Issue 1 (4th August 2021)

Authors:
Sakamoto, Masamune; Sasaki, Kazunori; Sugie, Atsushi; Nitta, Yohei; Kimura, Tetsuaki; Gürsoy, Semra; Cinleti, Tayfun; Iai, Mizue; Sengoku, Toru; Ogata, Kazuhiro; Suzuki, Atsushi; Okamoto, Nobuhiko; Iwama, Kazuhiro; Tsuchida, Naomi; Uchiyama, Yuri; Koshimizu, Eriko; Fujita, Atsushi; Hamanaka, Kohe...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 1(2022)
Page Start:
69
Record Type:
Journal Article
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2. Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses. Issue 1 (11th November 2020)

Authors:
Uchiyama, Yuri; Yamaguchi, Daisuke; Iwama, Kazuhiro; Miyatake, Satoko; Hamanaka, Kohei; Tsuchida, Naomi; Aoi, Hiromi; Azuma, Yoshiteru; Itai, Toshiyuki; Saida, Ken; Fukuda, Hiromi; Sekiguchi, Futoshi; Sakaguchi, Tomohiro; Lei, Ming; Ohori, Sachiko; Sakamoto, Masamune; Kato, Mitsuhiro; Koike, Taka...
Journal:
Human mutation
Issue:
Volume 42:Issue 1(2021)
Page Start:
50
Record Type:
Journal Article
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3. Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy. Issue 6 (7th October 2021)

Authors:
Saida, Ken; Tamaoki, Junya; Sasaki, Masayuki; Haniffa, Muzhirah; Koshimizu, Eriko; Sengoku, Toru; Maeda, Hiroki; Kikuchi, Masahiro; Yokoyama, Haruna; Sakamoto, Masamune; Iwama, Kazuhiro; Sekiguchi, Futoshi; Hamanaka, Kohei; Fujita, Atsushi; Mizuguchi, Takeshi; Ogata, Kazuhiro; Miyake, Noriko; Miy...
Journal:
Clinical genetics
Issue:
Volume 100:Issue 6(2021)
Page Start:
722
Record Type:
Journal Article
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4. Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants. Issue 5 (7th January 2023)

Authors:
Inoue, Yuta; Tsuchida, Naomi; Okamoto, Nobuhiko; Shuichi, Shimakawa; Ohashi, Kei; Saitoh, Shinji; Ogawa, Atsushi; Hamada, Keisuke; Sakamoto, Masamune; Miyake, Noriko; Hamanaka, Kohei; Fujita, Atsushi; Koshimizu, Eriko; Miyatake, Satoko; Mizuguchi, Takeshi; Ogata, Kazuhiro; Uchiyama, Yuri; Matsumo...
Journal:
Clinical genetics
Issue:
Volume 103:Issue 5(2023)
Page Start:
590
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗