Dr Miranda Splitt
| Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families | 2023 |
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Dr Miranda Splitt
| Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation | 2023 |
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Dr Miranda Splitt
| The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder | 2023 |
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Dr Miranda Splitt
| Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder | 2021 |
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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 |
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Dr Miranda Splitt
| Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder | 2020 |
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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 |
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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 |
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Dr Tara Montgomery Dr Miranda Splitt Dr Arjan De Brouwer
| De novo and biallelic DEAF1 variants cause a phenotypic spectrum | 2019 |
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Dr Gareth Waring Dr Miranda Splitt Professor Steve Robson
| Fetal hydrops: Diagnosis and prognosis | 2019 |
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Dr Miranda Splitt
| Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data | 2019 |
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Dr Miranda Splitt
| Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort | 2018 |
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Dr Miranda Splitt
| Extending the phenotype associated with the CSNK2A1-related Okur–Chung syndrome—A clinical study of 11 individuals | 2018 |
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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 |
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Dr Miranda Splitt Dr Michael Wright
| Quantifying the contribution of recessive coding variation to developmental disorders | 2018 |
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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 |
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Dr Miranda Splitt
| Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1 | 2017 |
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Dr Miranda Splitt
| A case on the PIK3CA-related overgrowth spectrum | 2016 |
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Dr Majid Arefi Dr Miranda Splitt Dr Suzy Leech Dr Sivakumar Natarajan Professor Neil Rajan et al. | Dry Skin and Blistering in Childhood | 2016 |
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Dr Miranda Splitt
| Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome | 2016 |
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Dr Miranda Splitt
| Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain | 2016 |
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Dr Miranda Splitt Professor Neil Rajan
| Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation | 2016 |
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Dr Miranda Splitt
| The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant | 2016 |
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Dr Miranda Splitt Dr Suzy Leech
| Chromosome 3 partial triplication in association with pigmentary mosaicism | 2015 |
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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 |
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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 |
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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 |
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Dr Stamatina Verykiou Dr Aileen Taylor Dr Miranda Splitt Dr Suzy Leech
| Atypical presentation of Rothmund-Thomson syndrome with cafe au lait patches | 2014 |
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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 |
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Dr Miranda Splitt
| Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 | 2014 |
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Dr Sally Lynch Dr Miranda Splitt
| Weaver Syndrome and EZH2 Mutations: Clarifying the Clinical Phenotype | 2013 |
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Professor Sir John Burn Dr Miranda Splitt
| Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype | 2013 |
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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 |
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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 |
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Dr Miranda Splitt
| Genotype-phenotype analysis of the branchio-oculo-facial syndrome | 2011 |
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Dr Miranda Splitt
| Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height | 2011 |
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Dr Miranda Splitt Professor Judith Goodship
| FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality | 2008 |
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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 |
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Dr Miranda Splitt
| Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: A new syndrome? | 2006 |
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Dr Miranda Splitt
| Neonatal teeth in X-linked Opitz (G/BBB) syndrome | 2006 |
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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 |
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Dr Miranda Splitt Dr Alison Trainer
| Clinical studies on submicroscopic subtelomeric rearrangements: a checklist | 2001 |
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Professor Judith Goodship Dr Miranda Splitt Professor Matthew Wright
| Autozygosity mapping of a Seckel Syndrome Locus to chromosome 3q22.1-q24 | 2000 |
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Dr Miranda Splitt Dr Christopher Wright Debbie Sen Professor Judith Goodship
| Left-isomerism sequence and maternal type-1 diabetes | 1999 |
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Dr Miranda Splitt
| Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes | 1999 |
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