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Browsing publications by Dr Simon Zwolinski

Newcastle AuthorsTitleYearFull text
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 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 Marta Bertoli
Dr Simon Zwolinski
Dr Rhys Thomas
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency2020
Dr Majid Arefi
Dr Valerie Wilson
Dr Siobhan Muthiah
Dr Simon Zwolinski
Dr Dalvir Bajwa
et al.
Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission2019
Dr Sara Brown
Dr Jannath Ahmed
Dr Simon Zwolinski
Dr Paul Brennan
Dr Neil Rajan
et al.
A novel link between keratoderma and cardiomyopathy: Contiguous gene deletion involving the desmoglein gene cluster2018
Adriana Buskin
Dr Lili Zhu
Dr Valeria Chichagova
Dr David Dolan
Dr Gerrit Hilgen
et al.
Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa2018
Adriana Buskin
Dr Lili Zhu
Dr Valeria Chichagova
Dr David Dolan
Dr Joseph Collin
et al.
Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa2018
Dr Jannath Ahmed
Dr Simon Zwolinski
Dr Paul Brennan
Dr Neil Rajan
A novel contiguous heterozygous deletion involving the desmoglein 2 and desmocollin 2 genes is associated with arrhythmogenic right ventricular cardiomyopathy2016
Dr Brian Wilson
Dr Simon Zwolinski
Dr Laura Yates
Dr Sally Lynch
Microdeletion 1p35.2: A recognizable facial phenotype with developmental delay2015
Dr Simon Zwolinski
Dr Michael Wright
3q26.33-3q27.2 microdeletion: A new microdeletion syndrome?2013
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