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Browsing publications by Dr Miranda Splitt

Newcastle AuthorsTitleYearFull text
Dr Miranda Splitt
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families2023
Dr Miranda Splitt
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation2023
Dr Miranda Splitt
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder2023
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
Professor Neil Rajan
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
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