Jacqueline Ramsay
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Ocular Disorders and Treatments, Chromosomal and Genetic Variations, Genomics and Rare Diseases
Most-Cited Works
- → Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence(2009)434 cited
- → 3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome(2005)296 cited
- → CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1(2007)129 cited
- → Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice(2011)93 cited
- → FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality(2008)81 cited
- → Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies(2010)36 cited
- → Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3(2004)27 cited
- → Using BAC clones to characterize unbalanced chromosome abnormalities in interphase cells(2005)3 cited
- → Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice(2018)2 cited