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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2018
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohortsClaudine M Kraan, Quang M Bui, Mike Field, et al.
Scientific 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.
Scientific Reports|February 28, 2018
Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile XMarta Arpone, Emma K Baker, Lesley Bretherton, et al.
Scientific Reports|July 18, 2020
FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndromeEmma K Baker, Marta Arpone, Claudine Kraan, et al.
American Journal of Medical Genetics. Part A|November 9, 2022
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndromeEmma K Baker, Marta Arpone, Minh Bui, et al.
JAMA Network Open|January 4, 2022
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic WorkflowDavid E Godler, Ling Ling, Dinusha Gamage, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 13, 2012
Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation studyYoshimi Inaba, Amy S Herlihy, Charles E Schwartz, et al.
Journal of Neurodevelopmental Disorders|December 28, 2019
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndromeEmma K Baker, Marta Arpone, Solange Aliaga Vera, et al.
Molecular Autism|May 11, 2019
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic featuresEmma K Baker, Marta Arpone, Solange M Aliaga, et al.
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