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American Journal of Human Genetics|January 3, 2012
Rare deletions at the neurexin 3 locus in autism spectrum disorderAndrea K Vaags, Anath C Lionel, Daisuke Sato, et al.Molecular Psychiatry|February 23, 2018
Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signalingMelanie Richter, Nadeem Murtaza, Robin Scharrenberg, et al.Nature Medicine|January 27, 2015
Whole-genome sequencing of quartet families with autism spectrum disorderRyan K C Yuen, Bhooma Thiruvahindrapuram, Daniele Merico, et al.Scientific Reports|July 2, 2016
Indexing Effects of Copy Number Variation on Genes Involved in Developmental DelayMohammed Uddin, Giovanna Pellecchia, Bhooma Thiruvahindrapuram, et al.Nature Medicine|January 10, 2024
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer ProgrammeAlona Sosinsky, John Ambrose, William Cross, et al.American Journal of Human Genetics|April 17, 2012
SHANK1 Deletions in Males with Autism Spectrum DisorderDaisuke Sato, Anath C Lionel, Claire S Leblond, et al.BMC Pregnancy and Childbirth|January 13, 2021
A multi-centre, open label, randomised, parallel-group, superiority Trial to compare the efficacy of URsodeoxycholic acid with RIFampicin in the management of women with severe early onset Intrahepatic Cholestasis of pregnancy: the TURRIFIC randomised trialWilliam M Hague, Leonie Callaway, Jennifer Chambers, et al.Clinical Genetics|April 9, 2026
Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion SyndromeAmber S E van Oirsouw, Tzung-Chien Hsieh, Martijn Koetsier, et al.Human Molecular Genetics|February 9, 2013
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizuresAnath C Lionel, Andrea K Vaags, Daisuke Sato, et al.Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research LibraryJenny Lord, Alistair T Pagnamenta, Letizia Vestito, et al.Pageof 23