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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 17, 2008
Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18qJohn B Vincent, Abdul Noor, Christian Windpassinger, et al.Genomics|February 13, 2001
Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2S Hadano, Y Yanagisawa, J Skaug, et al.Plos Genetics|June 12, 2013
Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autismHyun Ji Noh, Chris P Ponting, Hannah C Boulding, et al.Plos Genetics|August 23, 2012
Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathwaysCandice K Silversides, Anath C Lionel, Gregory Costain, et al.Journal of Medical Genetics|April 1, 2025
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research studyThanuja Selvanayagam, Ny Hoang, Ege Sarikaya, et al.The Cochrane Database of Systematic Reviews|May 27, 2025
Yoga for fatigue in people with cancerSarah Messer, Annika Oeser, Carina Wagner, et al.NPJ Genomic Medicine|January 13, 2025
Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencingDaniele Merico, Nigel Sharfe, Harjit Dadi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 5, 2017
A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorderKate Tsiplova, Richard M Zur, Christian R Marshall, et al.Schizophrenia Research|July 24, 2007
Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong KongAlbert K Mensah, Vincenzo De Luca, Beata Stachowiak, et al.Computational and Structural Biotechnology Journal|January 29, 2024
Combining Off-flow, a Nextflow-coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCsCarole Shum, Sang Yeon Han, Bhooma Thiruvahindrapuram, et al.Pageof 88