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Last Posted: Apr 11, 2024

• Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population.
  Li Tan et al. Mol Genet Genomic Med 2024 12(4) e2425
• Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation.
  Allyson Corbo et al. Res Dev Disabil 2024 148104719
• De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam.
  Hoa Thi Phuong Bui et al. PLoS One 2024 19(3) e0290936
• A holistic approach to fragile X syndrome integrated guidance for person-centred care.
  Kirsten Johnson et al. J Appl Res Intellect Disabil 2024 37(3) e13214
• "We are not a typical family anymore": Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia.
  Jacintha Luermans et al. Am J Med Genet A 2023
• Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.
  et al. Ont Health Technol Assess Ser 2023 23(4) 1-398
• Underdiagnosis of autism in children with fragile X syndrome reveals need for better education, early screening
  E Bluvas, Medical Xpress, August 2023
• Social and physical predictors of mental health impact in adult women who have an FMR1 premutation
  C Kraan et al, Genetics in Med Open, August 26, 2023
• Fragile X Syndrome – Moving Research FORWARD
  CDC, July 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

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