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Angus John Clarke
Researcher at Cardiff University
Publications - 297
Citations - 11975
Angus John Clarke is an academic researcher from Cardiff University. The author has contributed to research in topics: Genetic testing & Rett syndrome. The author has an hindex of 53, co-authored 275 publications receiving 10846 citations. Previous affiliations of Angus John Clarke include University Hospital of Wales & Newcastle University.
Papers
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Journal ArticleDOI
Rett syndrome: Revised diagnostic criteria and nomenclature
Jeffrey L. Neul,Walter E. Kaufmann,Daniel G. Glaze,John Christodoulou,Angus John Clarke,Nadia Bahi-Buisson,Helen Leonard,Mark E.S. Bailey,N. Carolyn Schanen,Michele Zappella,Alessandra Renieri,Peter Huppke,Alan K. Percy +12 more
TL;DR: The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.
Journal ArticleDOI
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.
Juha Kere,Anand Srivastava,Outi Montonen,Jonathan Zonana,Nicholas Stuart Tudor Thomas,Betsy Ferguson,Felix Munoz,Delyth Morgan,Angus John Clarke,Primo Baybayan,Ellson Y. Chen,Sini Ezer,Ulpu Saarialho-Kere,Ulpu Saarialho-Kere,Albert de la Chapelle,David Schlessinger +15 more
TL;DR: The positional cloning of the gene mutated in EDA is described, which encode a predicted 135–residue transmembrane protein that may belong to a novel class with a role in epithelial–mesenchymal signalling.
Journal ArticleDOI
Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation
Linda S. Weaving,John Christodoulou,John Christodoulou,Sarah L. Williamson,Sarah L. Williamson,Kathie L. Friend,Olivia L. D. McKenzie,Hayley Archer,Julie Evans,Angus John Clarke,Gregory J. Pelka,Gregory J. Pelka,Gregory J. Pelka,Patrick P.L. Tam,Catherine M. Watson,Hooshang Lahooti,Carolyn Ellaway,Carolyn Ellaway,Bruce Bennetts,Bruce Bennetts,Helen Leonard,Jozef Gecz,Jozef Gecz +22 more
TL;DR: CDKL5 is confirmed as another locus associated with epilepsy and X-linked mental retardation and suggested that mutations in CDKL 5 can lead to a clinical phenotype that overlaps RTT, however, it remains to be determined whether CDkL5 mutations are more prevalent in specific clinical subgroups of RTT or in other clinical presentations.
Book
The Genetic Testing of Children
TL;DR: The importance of genetic diseases in childhood has grown over the course of this century as that of infectious diseases and malnutrition has diminished, at least in developed countries and many of the children now requiring medical attention are recognised as suffering from genetic conditions.
Journal ArticleDOI
Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis
Sian Taylor-Phillips,Karoline Freeman,Julia Geppert,Adeola Agbebiyi,Olalekan A. Uthman,Jason Madan,Angus John Clarke,Siobhan Quenby,Aileen Clarke +8 more
TL;DR: NIPT using cell-free fetal DNA has very high sensitivity and specificity for Down syndrome, with slightly lower sensitivity for Edwards and Patau syndrome, however, it is not 100% accurate and should not be used as a final diagnosis for positive cases.