Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders
Year: 2025
Type: article
Language: en
Topic: RNA Research and Splicing
Authors and affiliations:
raw_author_name: Yukina Hayashi
raw_affiliation_strings: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
raw_author_name: Kenta Kajiwara
raw_affiliation_strings: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
raw_author_name: Seiji Mizuno
raw_affiliation_strings: Department of Pediatrics and Genetics, Aichi Developmental Disability Center Central Hospital, Kasugai, Aichi, Japan
raw_author_name: Nobuhiko Okamoto
raw_affiliation_strings: Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan
raw_author_name: Mei Yan Chan
raw_affiliation_strings: Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia
raw_author_name: Tomohide Goto
raw_affiliation_strings: Department of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan
raw_author_name: Seiichi Hayakawa
raw_affiliation_strings: Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan
raw_author_name: Mitsuhiro Kato
raw_affiliation_strings: Department of Pediatrics, Showa Medical University School of Medicine, Tokyo, Japan
raw_author_name: Chong Ae Kim
raw_affiliation_strings: Genetics Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil
raw_author_name: Dorit Lev
raw_affiliation_strings: Wolfson Medical Center, Holon, Israel
raw_author_name: Lip Hen Moey
raw_affiliation_strings: Department of Clinical Genetics, Penang Hospital, Pulau Pinang, Malaysia
raw_author_name: Juliet Taylor
raw_affiliation_strings: Genetic Health Service NZ, Northern Hub, Auckland City Hospital, Auckland, New Zealand
raw_author_name: Nerine Gregersen
raw_affiliation_strings: Genetic Health Service NZ, Northern Hub, Auckland City Hospital, Auckland, New Zealand
raw_author_name: Ifat Nezer-Kaner
raw_affiliation_strings: Wolfson Medical Center, Holon, Israel
raw_author_name: Wee Teik Keng
raw_affiliation_strings: Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia
raw_author_name: Satoshi Okada
raw_affiliation_strings: Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan
raw_author_name: Hitoshi Osaka
raw_affiliation_strings: Department of Pediatrics, Jichi Medical School, Shimotsuke, Tochigi, Japan
raw_author_name: Tally Sagie
raw_affiliation_strings: Wolfson Medical Center, Holon, Israel
raw_author_name: Yasunari Sakai
raw_affiliation_strings: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
raw_author_name: Katsuya Tashiro
raw_affiliation_strings: Department of Pediatrics, Japanese Red Cross Karatsu Hospital, Karatsu, Saga, Japan
raw_author_name: Patrick Yap
raw_affiliation_strings: Genetic Health Service NZ, Northern Hub, Auckland City Hospital, Auckland, New Zealand
raw_author_name: Li Fu
raw_affiliation_strings: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan
raw_author_name: Kazuhiro Iwama
raw_affiliation_strings: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
raw_author_name: Qiaowei Liang
raw_affiliation_strings: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
raw_author_name: Naoto Nishimura
raw_affiliation_strings: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
raw_author_name: Suzuran Saito
raw_affiliation_strings: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
raw_author_name: Masamune Sakamoto
raw_affiliation_strings: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
raw_author_name: Yasuhiro Utsuno
raw_affiliation_strings: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Department of Obstetrics and Gynecology, Asahikawa Medical University, Asahikawa, Hokkaido, Japan
raw_author_name: Naomi Tsuchida
raw_affiliation_strings: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan
raw_author_name: Yuri Uchiyama
raw_affiliation_strings: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan
raw_author_name: Eriko Koshimizu
raw_affiliation_strings: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
raw_author_name: Kohei Hamanaka
raw_affiliation_strings: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
raw_author_name: Satoko Miyatake
raw_affiliation_strings: Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Department of Neurogenetics, Molecular Neuroscience Research Center, Shiga University of Medical Science, Otsu, Shiga, Japan
raw_author_name: Takeshi Mizuguchi
raw_affiliation_strings: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
raw_author_name: Atsushi Fujita
raw_affiliation_strings: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
raw_author_name: Naomichi Matsumoto
raw_affiliation_strings: Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan. naomat@yokohama-cu.ac.jp
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. naomat@yokohama-cu.ac.jp
Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan. naomat@yokohama-cu.ac.jp
Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira, Japan. naomat@yokohama-cu.ac.jp
Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira, Japan