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Browsing publications by
Dr Miranda Splitt
Newcastle Authors
Title
Year
Full text
Dr Miranda Splitt
Correction:
GATAD2B
-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
2020
Dr Tara Montgomery
Dr Miranda Splitt
Dr Arjan De Brouwer
De novo and biallelic DEAF1 variants cause a phenotypic spectrum
2019
Dr Gareth Waring
Dr Miranda Splitt
Professor Steve Robson
Fetal hydrops: Diagnosis and prognosis
2019
Dr Miranda Splitt
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
2019
Dr Miranda Splitt
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
2018
Dr Miranda Splitt
Extending the phenotype associated with the
CSNK2A1
-related Okur–Chung syndrome—A clinical study of 11 individuals
2018
Dr Ruairidh Martin
Dr Majid Arefi
Dr Miranda Splitt
Lisa Redford
Dr Neil Rajan
et al.
Phacomatosis pigmentokeratotica and precocious puberty associated with
HRAS
mutation
2018
Dr Miranda Splitt
Dr Michael Wright
Quantifying the contribution of recessive coding variation to developmental disorders
2018
Dr David Bourn
Professor Sir John Burn
Dr Richard Fisher
Professor Judith Goodship
Alexander Henderson
et al.
Prevalence and architecture of
de novo
mutations in developmental disorders
2017
Dr Miranda Splitt
Protein structure and phenotypic analysis of pathogenic and population missense variants in
STXBP1
2017
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