5 Result(s)
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Katrina Tatton-Brown
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Article
Open AccessEvaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce
The implementation of the National Genomic Medicine Service in the UK has increased patient access to germline genomic testing. Increased testing leads to more genetic diagnoses but does result in the identifi...
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Article
Open AccessClinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
Beckwith–Wiedemann syndrome is an overgrowth disorder characterized by variable clinical phenotypes and a complex molecular aetiology. This Consensus Statement summarizes recommendations for clinical indicatio...
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Article
Correction: Corrigendum: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
Nat. Genet. 46, 385–388 (2014); published online 9 March 2014; corrected after print 25 April 2014 In the version of this article initially published, the protein alterations for three cases (COG1770, COG1670 ...
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Article
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
Nazneen Rahman, Katrina Tatton-Brown and colleagues identify de novo mutations in the DNA methyltransferase gene DNMT3A as the cause of a new overgrowth syndrome. Shared features of this syndrome include a distin...
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Article
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth
17q11 microdeletions that encompass NF1 cause 5%–10% of cases of neurofibromatosis type 1, and individuals with microdeletions are typically taller than individuals with intragenic NF1 mutations, suggesting that ...
