Publications by Dr Simon Zwolinski - ePrints

Browsing publications by Dr Simon Zwolinski.

Newcastle Authors	Title	Year
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 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 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 haploinsufficiency	2020
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 transmission	2019
Dr Sara Brown Dr Jannath Ahmed Dr Simon Zwolinski Dr Paul Brennan Professor Neil Rajan et al.	A novel link between keratoderma and cardiomyopathy: Contiguous gene deletion involving the desmoglein gene cluster	2018
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 pigmentosa	2018
Dr Jannath Ahmed Dr Simon Zwolinski Dr Paul Brennan Professor Neil Rajan	A novel contiguous heterozygous deletion involving the desmoglein 2 and desmocollin 2 genes is associated with arrhythmogenic right ventricular cardiomyopathy	2016
Dr Brian Wilson Dr Simon Zwolinski Dr Laura Yates Dr Sally Lynch	Microdeletion 1p35.2: A recognizable facial phenotype with developmental delay	2015
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 Hybridization	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
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 Disease	2012
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 syndrome	2012
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 Biobanks	2012
Professor 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 CGH	2008
Professor Andrew Gennery Dr Simon Zwolinski	Case report of two siblings with ICF syndrome	2008
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 antigen	2003
Dr Elizabeth Jones Dr Simon Zwolinski Dr Sally Lynch Dr Michael Wright	Characterisation of a family with an interstitial 11p duplication	2002