Browsing publications by Dr Miranda Splitt

Newcastle AuthorsTitleYearFull text
Dr Miranda Splitt
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain2016
Dr Miranda Splitt
Dr Neil Rajan
Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation2016
Dr Majid Arefi
Dr Miranda Splitt
Dr Suzy Leech
Dr Sivakumar Natarajan
Dr Neil Rajan
et al.
Dry Skin and Blistering in Childhood2015
Dr David Bourn
Professor Sir John Burn
Dr Richard Fisher
Professor Judith Goodship
Dr Alistair Henderson
et al.
Large-scale discovery of novel genetic causes of developmental disorders2015
Dr Angela Pyle
Dr Helen Griffin
Dr Miranda Splitt
Professor Patrick Chinnery
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness2015
Dr Suzy Leech
Dr Aileen Taylor
Dr Miranda Splitt
Dr Sivakumar Natarajan
Dr Neil Rajan
et al.
A novel RASA1 mutation presenting with multiple cutaneous capillary malformations2014
Dr Stamatina Verykiou
Dr Aileen Taylor
Dr Miranda Splitt
Dr Suzy Leech
Atypical presentation of Rothmund-Thomson syndrome with cafe au lait patches2014
Dr Miranda Splitt
Dr Richard Fisher
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism2014
Dr Miranda Splitt
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 52014
Dr Sally Lynch
Dr Miranda Splitt
Weaver Syndrome and EZH2 Mutations: Clarifying the Clinical Phenotype2013
123