Article
Molecular diagnosis of 405 individuals with autism spectrum disorder.
European journal of human genetics : EJHG - 1 Dec 2024
Miyake Noriko, Tsurusaki Yoshinori, Fukai Ryoko, Kushima Itaru, Okamoto Nobuhiko, Ohashi Kei, Nakamura Kazuhiko, Hashimoto Ryota, Hiraki Yoko, Son Shuraku, Kato Mitsuhiro, Sakai Yasunari, Osaka Hitoshi, Deguchi Kimiko, Matsuishi Toyojiro, Takeshita Saoko, Fattal-Valevski Aviva, Ekhilevitch Nina, Tohyama Jun, Yap Patrick, Keng Wee Teik, Kobayashi Hiroshi, Takubo Keiyo, Okada Takashi, Saitoh Shinji, Yasuda Yuka, Murai Toshiya, Nakamura Kazuyuki, Ohga Shouichi, Matsumoto Ayumi, Inoue Ken, Saikusa Tomoko, Hershkovitz Tova, Kobayashi Yu, Morikawa Mako, Ito Aiko, Hara Toshiro, Uno Yota, Seiwa Chizuru, Ishizuka Kanako, Shirahata Emi, Fujita Atsushi, Koshimizu Eriko, Miyatake Satoko, Takata Atsushi, Mizuguchi Takeshi, Ozaki Norio, Matsumoto Naomichi
Abstract excerpt
Autism spectrum disorder (ASD) is caused by combined genetic and environmental factors. Genetic heritability in ASD is estimated as 60-90%, and genetic investigations have revealed many monogenic factors. We analyzed 405 patients with ASD using family-based exome sequencing to detect disease-causing single-nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variations (CNVs) for...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.