Publications by Dr Richard Fisher - ePrints

Browsing publications by Dr Richard Fisher.

Newcastle Authors	Title	Year
Dr Richard Fisher	Expanding the phenotype of TAB2 variants and literature review	2022
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 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 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
Dr Richard Fisher Dr Tara Montgomery	Clinical and Genetic Aspects of KBG Syndrome	2016
Dr Richard Fisher Michelle Moffat	Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome	2015
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
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
Dr Sally Lynch Professor Judith Goodship Dr Michael Wright Dr Richard Fisher	How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum	2012
Dr Richard Fisher Emerita Professor Helen Rodgers	A Consensus on Stroke Early Supported Discharge	2011
Dr Brian Wilson Dr C Harikumar Dr Richard Fisher	Agenesis of the corpus callosum in mosaic tetrasomy 8p.	2010
Dr Richard Fisher Professor Stephen Proctor	Follicular Lymphoma International Prognostic Index	2004