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Genome Medicine|August 10, 2022
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeatsEgor Dolzhenko, Ben Weisburd, Kristina Ibañez, et al.Molecular Psychiatry|September 18, 2022
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain developmentAntony Kaspi, Michael S Hildebrand, Victoria E Jackson, et al.Journal of Neurology, Neurosurgery, and Psychiatry|July 29, 2022
Clinical impact of whole-genome sequencing in patients with early-onset dementiaAamira J Huq, Bryony Thompson, Mark F Bennett, et al.Human Mutation|August 28, 2022
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reportingZimeng Ye, Sufang Lin, Xia Zhao, et al.Brain : a Journal of Neurology|July 5, 2022
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsyLuca Gozzelino, Gaga Kochlamazashvili, Sara Baldassari, et al.American Journal of Human Genetics|December 9, 2022
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14Haloom Rafehi, Justin Read, David J Szmulewicz, et al.Orphanet Journal of Rare Diseases|August 2, 2024
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is agelessMathew Wallis, Simon D Bodek, Jacob Munro, et al.Neurology|December 14, 2018
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathyDanique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.American Journal of Human Genetics|June 25, 2019
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVASHaloom Rafehi, David J Szmulewicz, Mark F Bennett, et al.Brain : a Journal of Neurology|November 17, 2023
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40Angela T Morgan, Thomas S Scerri, Adam P Vogel, et al.Pageof 9