Jenny Morton

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Irene A. Aligianis, Colin A. Johnson, Paul Gissen et al. · Nature Genetics · 2005 · 224 citations

Mendelian Disorder, Genetic Disorder, Natural Sciences +7

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 203 citations · Full text

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Kristien Hoornaert, Inge Vereecke, Chantal Dewinter et al. · European Journal of Human Genetics · 2010 · 147 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +11

Fragile X syndrome is less common than previously estimated.

Jenny Morton, Sarah Bundey, T. Webb et al. · Journal of Medical Genetics · 1997 · 90 citations · Full text

Down Syndrome, Fragile X Syndrome, Severe Mental Retardation +15

Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome

Chirag Patel, Lisa Cooper‐Charles, Dominic McMullan et al. · European Journal of Human Genetics · 2011 · 78 citations · Full text

Signal Transduction, Tourette Syndrome, Genetics +6