Susan Gribble
Nottingham University Hospitals NHS Trust(GB)Wellcome Sanger Institute(GB)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Chromosomal and Genetic Variations, Genetics and Neurodevelopmental Disorders, Genomics and Chromatin Dynamics
Most-Cited Works
- → Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes(2008)806 cited
- → Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data(2014)787 cited
- → DNA sequence and analysis of human chromosome 9(2004)654 cited
- → Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations(2009)527 cited
- → Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants(2011)422 cited
- → Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability(2006)372 cited