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Journal of Medical Genetics|July 29, 2021
Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS)Ellenore M Martin, Ying Zhu, Claudine M Kraan, et al.Prenatal Diagnosis|April 26, 2022
ISPD 2021 debate - All in vitro fertilization cycles should involve pre-implantation genetic testing to improve fetal health and pregnancy outcomesLouise Wilkins-Haug, David J Amor, Julian SavulescuScientific Reports|December 24, 2025
Transcriptomic signatures in brain and blood related to cognitive and psychiatric phenotypes of Prader-Willi syndromeShokouh Shahrokhi, Emma K Baker, Michael See, et al.Genes|June 2, 2021
Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXXAlison Pandelache, David Francis, Ralph Oertel, et al.European Journal of Medical Genetics|February 26, 2022
Methylation analysis and developmental profile of two individuals with Angelman syndrome due to mosaic imprinting defectsEmma K Baker, Catherine F Merton, Wen-Hann Tan, et al.Plos One|February 24, 2018
β-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRNA toxicity studiesClaudine M Kraan, Kim M Cornish, Quang M Bui, et al.Behavioural Brain Research|January 17, 2015
Delineation of the working memory profile in female FMR1 premutation carriers: the effect of cognitive load on ocular motor responsesAnnie L Shelton, Kim M Cornish, David E Godler, et al.American Journal of Medical Genetics. Part A|July 27, 2022
Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndromeMiya St John, David J Amor, Angela T MorganJournal of Paediatrics and Child Health|December 31, 2013
Implementation of written consent for newborn screening in Victoria, AustraliaTaryn Charles, James Pitt, Jane Halliday, et al.JAMA Network Open|July 20, 2021
Principles of Genomic Newborn Screening Programs: A Systematic ReviewLilian Downie, Jane Halliday, Sharon Lewis, et al.Pageof 27