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Author Details

Helen Brittain
Queen Mary University of London
2015
15
9
PMIDPaper TitleJournal TitlePublished Year
34716235Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.J Med Genet2022
35532742A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes.Genet Med2022
36178483The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.Genet Med2022
34329581Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.Am J Hum Genet2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
31091003Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report.Am J Med Genet A2019
31676867PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.Nat Genet2019
28819573An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly.Case Rep Genet2017
29100083High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.Am J Hum Genet2017
29196356The rise of the genome and personalised medicine.Clin Med (Lond)2017
28747166Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.BMC Med Genet2017
26993267Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.J Med Genet2016
27257098Achondroplasia: Really rhizomelic?Am J Med Genet A2016
25564957Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome.JAMA Dermatol2015
25459971Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG study.Brain Dev2015
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Collaborators

Augusto Rendon
Genomics England Ltd
Co-authored papers 3
Rebecca E Foulger
Queen Mary University of London
Co-authored papers 3
Ellen M McDonagh
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 3
Ivone U S Leong
Queen Mary University of London
Co-authored papers 3
Louise C Daugherty
Queen Mary University of London, United Kingdom Healx Ltd
Co-authored papers 3
Mark J Caulfield
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 3
Antonio Rueda Martin
Queen Mary University of London
Co-authored papers 2
Andrew O M Wilkie
NIHR Oxford Biomedical Research Centre
Co-authored papers 2
Jamie M Ellingford
University of Manchester
Co-authored papers 2
Richard Quinton
Newcastle-upon-Tyne Hospitals NHS Trust.
Co-authored papers 2
Emma L Baple
University of Exeter Medical School, Royal Devon & Exeter Hospital
Co-authored papers 2
Dalia Kasperaviciute
Genomics England Ltd.
Co-authored papers 2
Catherine Snow
Queen Mary University of London
Co-authored papers 2
Richard H Scott
Great Ormond Street Hospital
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William Harvey Research Institute, Queen Mary University of London
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University of Southampton
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Leema Robert
Guys and St Thomas' NHS Trust
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Jane A Hurst
Great Ormond Street Hospital NHS Foundation Trust
Co-authored papers 2
Damian Smedley
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
Anna de Burca
Oxford University Hospitals NHS Foundation Trust
Co-authored papers 2
Katherine R Smith
Walter and Eliza Hall Institute of Medical Research
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Zornitza Stark
Murdoch Children's Research Institute
Co-authored papers 1
Ingrid E Scheffer
Co-authored papers 1
Dragana Josifova
Guy's and St Thomas' Hospital
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Douglass M Turnbull
Newcastle University
Co-authored papers 1
Weimin Bi
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Valentina Cipriani
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