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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
Dr 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
Dr Angela Pyle
Dr Helen Griffin
Dr Jennifer Duff
Shona Bennett
Dr Simon Zwolinski
et al.
Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization2013
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
Rachel Soemedi
Dr Ian Wilson
Dr Rebecca Darlay
Dr Ana Topf
Dr Simon Zwolinski
et al.
Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease2012
Dr Brian Wilson
Dr Simon Zwolinski
Dr Michael Wright
Interstitial microduplication 12q13.2-q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias: not a phenocopy of Wolf-Hirschhorn syndrome2012
Dr Marcin Jurga
Dr Nicolas Forraz
Christina Basford
Professor Andrew Trevelyan
Dr Saba Habibollah
et al.
Neurogenic Properties and a Clinical Relevance of Multipotent Stem Cells Derived from Cord Blood Samples Stored in the Biobanks2012
Dr Timothy Cheetham
Dr Jonathan Wyllie
Dr Sally Lynch
Dr Simon Zwolinski
Lynn Prescott
et al.
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH2008
Professor Andrew Gennery
Dr Simon Zwolinski
Case report of two siblings with ICF syndrome2008
Dr Barry Davies
Islay Steele
Professor Richard Edmondson
Dr Simon Zwolinski
Dr Gabriele Saretzki
et al.
Immortalisation of human ovarian surface epithelium with telomerase and temperature-senstitive SV40 large T antigen2003
Dr Elizabeth Jones
Dr Simon Zwolinski
Dr Sally Lynch
Dr Michael Wright
Characterisation of a family with an interstitial 11p duplication2002