Toggle Main Menu Toggle Search

Open Access padlockePrints

Browsing publications by Dr Richard Fisher

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 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 disorders2017
Dr Richard Fisher
Dr Tara Montgomery
Clinical and Genetic Aspects of KBG Syndrome2016
Dr Richard Fisher
Michelle Moffat
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome2015
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 disorders2015
Dr Miranda Splitt
Dr Richard Fisher
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism2014
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 spectrum2012
Dr Richard Fisher
Emerita Professor Helen Rodgers
A Consensus on Stroke Early Supported Discharge2011
12