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Browsing publications by Dr Miranda Splitt.

Newcastle AuthorsTitleYearFull text
Dr Miranda Splitt
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder2021
Dr David Bourn
Professor Sir John Burn
Dr Richard Fisher
Alexander Henderson
Dr Tara Montgomery
et al.
The contribution of X-linked coding variation to severe developmental disorders2021
Dr Miranda Splitt
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder2020
Dr David Bourn
Dr Richard Fisher
Alexander Henderson
Dr Miranda Splitt
Professor Volker Straub
et al.
Evidence for 28 genetic disorders discovered by combining healthcare and research data2020
Dr David Bourn
Dr Richard Fisher
Professor Judith Goodship
Dr Tara Montgomery
Linda Sneddon
et al.
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (Nature Communications, (2018), 9, 1, (4619), 10.1038/s41467-018-06014-6)2019
Dr Tara Montgomery
Dr Miranda Splitt
Dr Arjan De Brouwer
De novo and biallelic DEAF1 variants cause a phenotypic spectrum2019
Dr Gareth Waring
Dr Miranda Splitt
Professor Steve Robson
Fetal hydrops: Diagnosis and prognosis2019
Dr Miranda Splitt
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data2019
Dr Miranda Splitt
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort2018
Dr Miranda Splitt
Extending the phenotype associated with the CSNK2A1-related Okur–Chung syndrome—A clinical study of 11 individuals2018
Dr Ruairidh Martin
Dr Majid Arefi
Dr Miranda Splitt
Lisa Redford
Dr Neil Rajan
et al.
Phacomatosis pigmentokeratotica and precocious puberty associated with HRAS mutation2018
Dr Miranda Splitt
Dr Michael Wright
Quantifying the contribution of recessive coding variation to developmental disorders2018
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 disorders2017
Dr Miranda Splitt
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP12017
Dr Miranda Splitt
A case on the PIK3CA-related overgrowth spectrum2016
Dr Majid Arefi
Dr Miranda Splitt
Dr Suzy Leech
Dr Sivakumar Natarajan
Dr Neil Rajan
et al.
Dry Skin and Blistering in Childhood2016
Dr Miranda Splitt
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome2016
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 Miranda Splitt
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant2016
Dr Miranda Splitt
Dr Suzy Leech
Chromosome 3 partial triplication in association with pigmentary mosaicism2015
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
Professor Sir John Burn
Dr Miranda Splitt
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype2013
Dr Brian Wilson
Dr Simon Zwolinski
Dr Miranda Splitt
A case of mosaic trisomy 19q12-q13.2 with high BMI, macrocephaly, and speech delay: does USF2 determine size in the 19q phenotypes?2012
Dr Miranda Splitt
Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR12012
Dr Miranda Splitt
Genotype-phenotype analysis of the branchio-oculo-facial syndrome2011
Dr Miranda Splitt
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height2011
Dr Miranda Splitt
Professor Judith Goodship
FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality2008
Dr Rob Forsyth
Dr Debbie Matthews
Michael Clarke
Dr Miranda Splitt
Oliver-McFarlane syndrome (chorioretinopathy-pituitary dysfunction) with prominent early pituitary dysfunction: differentiation from choroideremia-hypopituitarism2008
Dr Miranda Splitt
Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: A new syndrome?2006
Dr Miranda Splitt
Neonatal teeth in X-linked Opitz (G/BBB) syndrome2006
Emerita Professor Susan Lindsay
Dr Miranda Splitt
Professor Sir John Burn
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome2002
Dr Miranda Splitt
Dr Alison Trainer
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist2001
Professor Judith Goodship
Dr Miranda Splitt
Professor Matthew Wright
Autozygosity mapping of a Seckel Syndrome Locus to chromosome 3q22.1-q242000
Dr Miranda Splitt
Dr Christopher Wright
Debbie Sen
Professor Judith Goodship
Left-isomerism sequence and maternal type-1 diabetes1999
Dr Miranda Splitt
Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes1999