Judith Goodship
University of Leicester(GB)NHS Tayside(GB)Newcastle upon Tyne Hospitals NHS Foundation Trust(GB)Ninewells Hospital(GB)Centre for Life(GB)
Publications by Year
Research Areas
Congenital heart defects research, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Cell Adhesion Molecules Research, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Most-Cited Works
- → Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis(2000)352 cited
- → Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus(2000)264 cited
- → Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse(1998)238 cited
- → A common region of 10p deleted in DiGeorge and velocardiofacial syndromes(1996)219 cited
- → How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum(2011)180 cited
- A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals.(1994)
- → Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome