Sue Kenwrick
Addenbrooke's Hospital(GB)
Publications by Year
Research Areas
Genetic and rare skin diseases., RNA Research and Splicing, Neurogenesis and neuroplasticity mechanisms, Connective tissue disorders research, Genetic factors in colorectal cancer
Most-Cited Works
- → X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling(2001)817 cited
- → Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype(2019)170 cited
- → X linked hydrocephalus and MASA syndrome.(1996)94 cited
- → Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals(2009)85 cited
- → A missense mutation confirms the L1 defect in X–linked hydrocephalus (HSAS)(1993)79 cited
- → Neural cell adhesion molecule L1: relating disease to function(1998)56 cited
- → Pilot morpholino screen in Xenopus tropicalis identifies a novel gene involved in head development(2003)52 cited
- → A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti(2004)50 cited
- → The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and Counsellors(2017)43 cited
- → Exon 2 of the gene for neural cell adhesion molecule Ll is alternatively spliced in B cells(1995)39 cited