npj Genomic Medicine

Publisher:: Springer Nature
ISSN:: 2056-7944
Category:: GENETICS & HEREDITY
Impact factor:: 4.7

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Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery

2026-03-26

Li Fu, Chong Ae Kim, Masatoshi Tokita, Yohane Miyata, Nobuhiko Okamoto, Yoshio Makita, Hitoshi Osaka, Ayataka Fujimoto, Atsuro Daida, Jun Nirei, Noriko Udagawa, Seiichi Hayakawa, Kimiko Deguchi, Mitsumasa Fukuda, Hiroshi Matsumoto, Manami Akasaka, Junichiro Okada, Yohei Misumi, Jun Kido, Toshifumi Suzuki, Hiromi Aoi, Rie Seyama, Haruka Hamanoue, Satomi Mitsuhashi, Sachiko Ohori, Ken Saida, Yuta Inoue, Kohei Hamanaka, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Atsuo Itakura, Naoki Harada, Atsushi Fujita, Naomichi Matsumoto

npj Genomic Medicine, Published online: 26 March 2026; doi:10.1038/s41525-026-00561-4 Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery

Functional signatures of de novo <i>GABBR1</i> and <i>GABBR2</i> variants associated with neurodevelopmental disorders

2026-03-09

Michal Stawarski, Noa Bielopolski, Ilana Roitman, Karen Fridman, Shane Wald-Altman, Megan Eitel, Benedict Hui, Anneke Vulto-van Silfhout, Alexander P. A. Stegmann, Adela Chirita-Emandi, Jacqueline Eason, Kirsty Bradshaw, Lewis Darnell, Grażyna Kostrzewa, Rafal Ploski, Romane Meurs, Amandine Batté, Stylianos E. Antonarakis, Martin Gassmann, Bernhard Bettler

npj Genomic Medicine, Published online: 09 March 2026; doi:10.1038/s41525-026-00558-z Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders