Publications by Dr Miranda Splitt - ePrints

Browsing publications by Dr Miranda Splitt.

Newcastle Authors	Title	Year
Dr Miranda Splitt	Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families	2023
Dr Miranda Splitt	Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation	2023
Dr Miranda Splitt	The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder	2023
Dr Miranda Splitt	Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder	2021
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 disorders	2021
Dr Miranda Splitt	Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder	2020
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 data	2020
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 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 Professor 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
Dr Miranda Splitt	A case on the PIK₃CA-related overgrowth spectrum	2016
Dr Majid Arefi Dr Miranda Splitt Dr Suzy Leech Dr Sivakumar Natarajan Professor Neil Rajan et al.	Dry Skin and Blistering in Childhood	2016
Dr Miranda Splitt	Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome	2016
Dr Miranda Splitt	Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain	2016
Dr Miranda Splitt Professor Neil Rajan	Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation	2016
Dr Miranda Splitt	The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant	2016
Dr Miranda Splitt Dr Suzy Leech	Chromosome 3 partial triplication in association with pigmentary mosaicism	2015
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 disorders	2015
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 blindness	2015
Dr Suzy Leech Dr Aileen Taylor Dr Miranda Splitt Dr Sivakumar Natarajan Professor Neil Rajan et al.	A novel RASA1 mutation presenting with multiple cutaneous capillary malformations	2014
Dr Stamatina Verykiou Dr Aileen Taylor Dr Miranda Splitt Dr Suzy Leech	Atypical presentation of Rothmund-Thomson syndrome with cafe au lait patches	2014
Dr Miranda Splitt Dr Richard Fisher	Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism	2014
Dr Miranda Splitt	Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5	2014
Dr Sally Lynch Dr Miranda Splitt	Weaver Syndrome and EZH2 Mutations: Clarifying the Clinical Phenotype	2013
Professor Sir John Burn Dr Miranda Splitt	Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype	2013
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, ICR1	2012
Dr Miranda Splitt	Genotype-phenotype analysis of the branchio-oculo-facial syndrome	2011
Dr Miranda Splitt	Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height	2011
Dr Miranda Splitt Professor Judith Goodship	FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality	2008
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-hypopituitarism	2008
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) syndrome	2006
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 syndrome	2002
Dr Miranda Splitt Dr Alison Trainer	Clinical studies on submicroscopic subtelomeric rearrangements: a checklist	2001
Professor Judith Goodship Dr Miranda Splitt Professor Matthew Wright	Autozygosity mapping of a Seckel Syndrome Locus to chromosome 3q22.1-q24	2000
Dr Miranda Splitt Dr Christopher Wright Debbie Sen Professor Judith Goodship	Left-isomerism sequence and maternal type-1 diabetes	1999
Dr Miranda Splitt	Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes	1999