Alison Ross
Aberdeen Royal Infirmary(GB)NHS Grampian(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genetic Syndromes and Imprinting, Genetic and Kidney Cyst Diseases
Most-Cited Works
- → Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome(2003)687 cited
- → Evidence for 28 genetic disorders discovered by combining healthcare and research data(2020)646 cited
- → Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates(2005)549 cited
- → The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression(2004)394 cited
- → Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome(2004)333 cited
- → Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling(2015)330 cited
- → A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis(1998)291 cited
- → Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome(2003)259 cited
- → Mutations in the pre-replication complex cause Meier-Gorlin syndrome(2011)250 cited
- → Dominant missense mutations in ABCC9 cause Cantú syndrome(2012)199 cited