Article
An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.
Nature - 1 Jul 2026
Bradley Clarrisa A, Ko Sangyoon Y, Tian Meng, Ralph Liam T, D'Abate Lia, Lee Jinyeol, Liu Tianyi, Wang Junhui, Tidball Patrick, Mendes Marla, Fan Xiaolian, Howe Jennifer L, Alexandrova Roumiana, Pellecchia Giovanna, Casallo Guillermo, Paton Tara, Wybenga-Groot Leanne E, Engchuan Worrawat, Thiruvahindrapuram Bhooma, Trost Brett, de Rijke Jill, Kadia Ashish, Jin Fuzi, Salazar Nelson Bautista, Diaz-Mejia J Javier, MacDonald Jeffrey R, Deneault Eric, Ross P Joel, Ellis James, Shum Carole, Georgiou John, Rennie Olivia, Reuter Miriam S, Hoang Ny, Sarikaya Ege, Selvanayagam Thanuja, Amini Aeen Ebrahim, Rutherford Annabel, Rivera-Alfaro Natalia, Marshall Christian R, Scala Marcello, Runke Cassandra K, Kearney Hutton M, Christodoulou John, Francis David I, Chung Brian H Y, Pluciniczak Jill, Iaboni Alana, Wigby Kristen M, Nordahl Christine W, Amaral David G, Hudson Melissa L, Sjaarda Calvin P, Guerin Andrea, Elsabbagh Mayada, Landa Rebecca, Mital Seema, Lesurf Robert, Jain Anjali, Wilson Michael D, Ellegood Jacob, Lerch Jason P, Lee Leo J, Frey Brendan J, Salter Michael W, Vorstman Jacob A S, Anagnostou Evdokia, Frankland Paul W, Collingridge Graham L, Scherer Stephen W
Abstract excerpt
There are around 100 genes or copy-number variations used in genetic testing for autism spectrum disorder (ASD)1,2. The established genes are protein coding, and the associated phenotypes usually extend beyond sociobehavioural traits seen in autism, including cognitive/medical complexities and attention deficit hyperactivity disorder (ADHD)3,4. We examined whole-genome sequencing data in cases of ASD (9,349) and...
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