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Last Posted: May 31, 2023

• Misunderstood terms and concepts identified through user testing of educational materials for fragile X premutation: "Not weak or fragile?".
  Beth Lincoln-Boyea et al. J Genet Couns 2023
• The incidence and clinical characteristics of fragile X syndrome in China.
  Lianni Mei et al. Frontiers in pediatrics 2023 111064104
• Economic evaluation of population-based expanded reproductive carrier screening for genetic diseases in Australia.
  Deborah Schofield et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100813
• [Clinical practice guidelines for Fragile X syndrome].
  Clinical Genetics Group Of Medical Geneticist Branch Of Chinese Medical Doctor Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 39(11) 1181-1186
• Research Gaps in Fragile X Syndrome: An Updated Literature Review to Inform Clinical and Public Health Practice.
  Raspa Melissa et al. Journal of developmental and behavioral pediatrics : JDBP 2022
• Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program.
  Leibowitz Ruth et al. Australian journal of primary health 2022
• Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.
  Liang Qiaowei et al. Clinical chemistry 2022
• Screening for Fragile X Syndrome Among Filipino Children with Autism Spectrum Disorder.
  Dy Angel Belle C et al. Journal of autism and developmental disorders 2022
• The second-tier status of fragile X syndrome testing for unexplained intellectual disability/global developmental delay in the era of next-generation sequencing.
  Zhang Wen et al. Frontiers in pediatrics 2022 10911805
• Fragile X syndrome: Learning what families need, one person at a time.
  CDC, July 2022
• Advancing artificial intelligence-assisted pre-screening for fragile X syndrome.
  Movaghar Arezoo et al. BMC medical informatics and decision making 2022 22(1) 152
• Maternal FMR1 alleles expansion in newborns during transmission: a prospective cohort study.
  Shahid Rabia et al. Pediatric research 2022
• Fragile X Mental Retardation Protein and Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome: A Pilot Study.
  Brašic James Robert et al. Brain sciences 2022 12(3)
• Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.
  Tekendo-Ngongang Cedrik et al. Genes 2021 12(11)
• FMR1 allele frequencies in 51,000 newborns: a large-scale population study in China.
  Zhang Jin-Yu et al. World journal of pediatrics : WJP 2021
• Mechanisms of Genome Instability in the Fragile X-Related Disorders.
  Hayward Bruce E et al. Genes 2021 12(10)
• What is the threshold of mature oocytes to obtain at least one healthy transferable cleavage-stage embryo after preimplantation genetic testing for fragile X syndrome?
  Sonigo C et al. Human reproduction (Oxford, England) 2021
• Family as a Context for Child Development: Mothers with the FMR1 Premutation and Their Children with Fragile X Syndrome.
  Bangert Katherine et al. Seminars in speech and language 2021 42(4) 277-286
• Parent clinical trial priorities for fragile X syndrome: a best–worst scaling
  E. Turbitt et al, EJHG, June 24, 2021
• Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population.
  Capalbo A et al. Human reproduction (Oxford, England) 2021
• The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
  Zacher Pia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
• Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size
  EG Allen et al, Genetics in Medicine, April 29, 2021
• Artificial intelligence-assisted phenotype discovery of fragile X syndrome in a population-based sample.
  Movaghar Arezoo et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
• Clinical Characteristics of Fragile X Syndrome Patients in Japan.
  Okazaki Tetsuya et al. Yonago acta medica 2021 64(1) 30-33
• Surveillance and prevalence of fragile X syndrome in Indonesia.
  Sihombing Nydia Rena Benita et al. Intractable & rare diseases research 2021 10(1) 11-16
• Now Open for Applications for CDC Funding Opportunity: Characterizing the Natural History of Fragile X Syndrome to Inform the Development of Intervention Outcome Measures
  
• Attitudes toward population screening among people living with fragile X syndrome in the UK: 'I wouldn't wish him away, I'd just wish his fragile X syndrome away'.
  Boardman Felicity K et al. Journal of genetic counseling 2020 Nov
• Are We Ready for Fragile X Newborn Screening Testing?-Lessons Learnt from a Feasibility Study.
  Wotton Tiffany et al. International journal of neonatal screening 2018 Mar 4(1) 9
• A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments.
  Budimirovic Dejan B et al. Brain sciences 2020 Sep 10(10)
• Chromosomal Microarray Analysis in Turkish Patients with Unexplained Developmental Delay and Intellectual Developmental Disorders.
  Gürkan Hakan et al. Noro psikiyatri arsivi 2020 Sep 57(3) 177-191

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