Evidence map›Paper›PMID 42129557›Full record

ArticleNature2026

An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.

Clarrisa A Bradley, Sangyoon Y Ko, Meng Tian, Liam T Ralph, Lia D'Abate, Jinyeol Lee, Tianyi Liu, Junhui Wang, Patrick Tidball, Marla Mendes and 60 more

Abstract read
In one paragraph

Article in Nature, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

70 authors.

Clarrisa A BradleyThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. lisa.bradley@sickkids.ca.ORCID http://orcid.org/0000-0002-3117-5263
Sangyoon Y KoThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-8845-8723
Meng Tian *Tanz Centre for Research in Neurodegenerative Diseases, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Liam T Ralph *Tanz Centre for Research in Neurodegenerative Diseases, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Lia D'AbateThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Jinyeol LeeLunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.
Tianyi LiuThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Junhui WangLunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-0892-9909
Patrick TidballTanz Centre for Research in Neurodegenerative Diseases, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-8983-1905
Marla MendesThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-6114-7482
Xiaolian FanThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Jennifer L HoweThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Roumiana AlexandrovaThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Giovanna PellecchiaThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-4747-3473
Guillermo CasalloThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Tara PatonThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Leanne E Wybenga-GrootSPARC BioCentre, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-7073-9041
Worrawat EngchuanThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0001-6138-1925
Bhooma ThiruvahindrapuramThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-1128-008X
Brett TrostThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Jill de RijkeThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0009-0009-4712-6034
Ashish KadiaLunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.
Fuzi JinLunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-3401-8511
Nelson Bautista SalazarThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
J Javier Diaz-MejiaPhenomic AI, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-2475-3077
Jeffrey R MacDonaldThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0001-5058-2393
Eric DeneaultRegulatory Research Division, Centre for Oncology, Radiopharmaceuticals and Research, Biologic and Radiopharmaceutical Drugs Directorate, Health Products and Food Branch, Health Canada, Ottawa, Ontario, Canada.
P Joel RossDepartment of Biology, University of Prince Edward Island, Charlottetown, Prince Edward Island, Canada.
James EllisDepartment of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-4400-0091
Carole ShumThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
John GeorgiouTanz Centre for Research in Neurodegenerative Diseases, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-4503-6384
Olivia RennieThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Miriam S ReuterThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Ny HoangThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Ege SarikayaThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0009-0006-8433-1190
Thanuja SelvanayagamThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Aeen Ebrahim AminiLunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.
Annabel RutherfordThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Natalia Rivera-AlfaroThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Christian R MarshallGenome Diagnostics, Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-4003-7671
Marcello ScalaThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-2194-7239
Cassandra K RunkeDivision of Laboratory Genetics & Genomics-Hereditary Section, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0001-6825-6385
Hutton M KearneyDivision of Laboratory Genetics & Genomics-Hereditary Section, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0002-6002-6494
John ChristodoulouBrain and Mitochondrial Research Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia and Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.ORCID http://orcid.org/0000-0002-8431-0641
David I FrancisVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Brian H Y ChungPaediatrics & Adolescent Medicine, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong, China.
Jill PluciniczakDivision of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Alana IaboniHolland Bloorview Kids Rehabilitation Hospital, Bloorview Research Institute, Toronto, Ontario, Canada.
Kristen M WigbyDepartment of Psychiatry and Behavioral Sciences, The MIND Institute University of California, Davis, CA, USA.
Christine W NordahlDepartment of Psychiatry and Behavioral Sciences, The MIND Institute University of California, Davis, CA, USA.
David G AmaralDepartment of Psychiatry and Behavioral Sciences, The MIND Institute University of California, Davis, CA, USA.
Melissa L HudsonQueen's Genomics Lab at Ongwanada (QGLO), Ongwanada Resource Center and Department of Psychiatry, Queen's University, Kingston, Ontario, Canada.
Calvin P SjaardaQueen's Genomics Lab at Ongwanada (QGLO), Ongwanada Resource Center and Department of Psychiatry, Queen's University, Kingston, Ontario, Canada.ORCID http://orcid.org/0000-0002-9787-1915
Andrea GuerinDivision of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, Ontario, Canada.
Mayada ElsabbaghAzrieli Centre for Autism Research, Montreal Neurological Institute-Hospital, McGill University, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0002-7311-9059
Rebecca LandaCenter for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, MD, USA.
Seema MitalProgram in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-7643-4484
Robert LesurfProgram in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0001-7095-1491
Anjali JainThe Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0001-6865-8632
Michael D WilsonProgram in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-4015-3066
Jacob EllegoodHolland Bloorview Kids Rehabilitation Hospital, Bloorview Research Institute, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-1504-3321
Jason P LerchMouse Imaging Centre, Hospital for Sick Children, Toronto, Ontario, Canada.
Leo J LeeDepartment of Electrical & Computer Engineering, University of Toronto, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-1829-1187
Brendan J FreyDepartment of Electrical & Computer Engineering, University of Toronto, Toronto, Ontario, Canada.
Michael W SalterProgram in Neurosciences & Mental Health, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0001-6897-6585
Jacob A S VorstmanThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-1677-3126
Evdokia AnagnostouHolland Bloorview Kids Rehabilitation Hospital, Bloorview Research Institute, Toronto, Ontario, Canada.
Paul W FranklandProgram in Neurosciences & Mental Health, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-1395-3586
Graham L CollingridgeTanz Centre for Research in Neurodegenerative Diseases, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-9572-5359
Stephen W SchererThe Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. stephen.scherer@sickkids.ca.ORCID http://orcid.org/0000-0002-8326-1999

Funding

Sleep and Circadian Dysfunction, Brain and Neurobehavioral Development in AutismP50HD103538 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI Stewart H Mostofsky · 2020 to 2026
$9.9M
NICHD NIH HHS P50 HD103538
6 · The paper itself

Abstract

There are around 100 genes or copy-number variations used in genetic testing for autism spectrum disorder (ASD)

Indexed as

Autism Spectrum DisorderGenes, X-LinkedGenetic Predisposition to DiseaseMembrane ProteinsRNA, Long NoncodingAnimalsAutistic DisorderChromosome DeletionDisease Models, AnimalExonsFemaleHippocampusHumansMaleMiceMice, KnockoutMembrane ProteinsPTCHD1 protein, humanRNA, Long Noncoding

Identifiers

PMID42129557
PMCPMC13345903

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.