Diana Baralle

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 18

Top Venues

Archives of disease in childhood

Healthcare (Basel, Switzerland)

Scientific reports

NPJ genomic medicine

University of Southampton

University of London (BSC)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Southampton

United Kingdom

Professor of Genomic Medicine / Honorary Consultant in Clinical Genetics :: Faculty of Medicine

Southampton University Hospitals NHS Trust

United Kingdom

Consultant :: Wessex Clinical Genetics Department

Addenbrooke's Hospital

United Kingdom

Locum University Lecturer / Honorary Consultant :: Department of Medical Genetics

University of Cambridge

United Kingdom

Research Fellow / Honorary Specialist Registrar :: Department of Medical Genetics

Addenbrooke's Hospital

United Kingdom

Locum Consultant :: Clinical Genetics

Addenbrooke's Hospital

United Kingdom

Specialist Registrar :: Clinical Genetics

Great Ormond Street Hospital For Children NHS Trust

United Kingdom

Specialist Registrar :: Clinical Genetics and Dysmorphology

Great Ormond Street Hospital For Children NHS Trust

United Kingdom

Senior House Officer :: Paediatrics

Wycombe Hospital

United Kingdom

House Officer :: General Surgery and E.N.T.

University College London Hospitals

United Kingdom

House Officer :: General/Metabolic Medicine and Diabetes

Education History

University of London

United Kingdom

BSC

University of London

United Kingdom

BSC

Publications

Giles Atton, Diana Baralle
Epidemiology of Robin sequence: geographical variation in the UK/Ireland. Archives of disease in childhood 109 (3) (2024)
Giles Atton, Diana Baralle
Epidemiology of Robin sequence: geographical variation in the UK/Ireland. Archives of disease in childhood 109 (3) (2024)
Giles Atton, Diana Baralle
Epidemiology of Robin sequence: geographical variation in the UK/Ireland. Archives of disease in childhood (2024)
Carolina Jaramillo Oquendo, Htoo A Wai, Wil I Rich, David J Bunyan, N Simon Thomas, David Hunt, Jenny Lord, Andrew G L Douglas, Diana Baralle
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach. Genome medicine 16 (1) (2024)
Giles Atton, Diana Baralle
Epidemiology of Robin sequence: geographical variation in the UK/Ireland. Archives of disease in childhood 109 (3) (2024)
Eleanor G Seaby, N Simon Thomas, David Hunt, Diana Baralle, Heidi L Rehm, Anne O'Donnell-Luria, Sarah Ennis
A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service. Healthcare (Basel, Switzerland) 11 (24) (2023)
Eleanor G Seaby, N Simon Thomas, David Hunt, Diana Baralle, Heidi L Rehm, Anne O'Donnell-Luria, Sarah Ennis
A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service. Healthcare (Basel, Switzerland) 11 (24) (2023)
Eleanor G Seaby, N Simon Thomas, David Hunt, Diana Baralle, Heidi L Rehm, Anne O'Donnell-Luria, Sarah Ennis
A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service. Healthcare (Basel, Switzerland) 11 (24) (2023)
Eleanor G Seaby, N Simon Thomas, David Hunt, Diana Baralle, Heidi L Rehm, Anne O'Donnell-Luria, Sarah Ennis
A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service. Healthcare (Basel, Switzerland) 11 (24) (2023)
Htoo Aung Wai, Matthew Constable, Cosima Drewes, Ian C Davies, Eliska Svobodova, Esther Dempsey, Anand Saggar, Tessa Homfray, Sahar Mansour, Sofia Douzgou, Kate Barr, Catherine Mercer, David Hunt, Andrew G L Douglas, Diana Baralle
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis. Human mutation 43 (7) (2022)
Siying Lin, Aida Sanchez-Bretaño, Joseph S Leslie, Katie B Williams, Helena Lee, N Simon Thomas, Jonathan Callaway, James Deline, J Arjuna Ratnayaka, Diana Baralle, Melanie A Schmitt, Chelsea S Norman, Sheri Hammond, Gaurav V Harlalka, Sarah Ennis, Harold E Cross, Olivia Wenger, Andrew H Crosby, Andrew H Crosby, James E Self
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B). NPJ genomic medicine 7 (1) (2022)
Htoo A Wai, Jenny Lord, Matthew Lyon, Adam Gunning, Hugh Kelly, Penelope Cibin, Eleanor G Seaby, Kerry Spiers-Fitzgerald, Jed Lye, Sian Ellard, N Simon Thomas, David J Bunyan, Andrew G L Douglas, Diana Baralle, null null
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance. Genetics in medicine : official journal of the American College of Medical Genetics 22 (6) (2020)
Diana Baralle, Vardha Ismail
'Next Generation Sequencing' as a diagnostic tool in paediatrics. Archives of disease in childhood 106 (1) (2020)
Charlie F Rowlands, Diana Baralle, Jamie M Ellingford
Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing. Cells 8 (12) (2019)
Luke O'Gorman, Chelsea S Norman, Luke Michaels, Tutte Newall, Andrew H Crosby, Christopher Mattocks, Angela Jane Cree, Andrew John Lotery, Emma L Baple, J Arjuna Ratnayaka, Diana Baralle, Helena Lee, Daniel C Osborne, Fatima Shawkat, Jane Gibson, Sarah Ennis, Jay E Self
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping. Scientific reports 9 (1) (2019)
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Q C M Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I Karen Temple, Peter D Turnpenny, Lionel Van Maldergem, Vinod Varghese, Hermine E Veenstra-Knol, Naomi Yachelevich, Laura Yates, null null, null null, Nazneen Rahman
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. Wellcome open research 3 (2018)
Flavia Leme de Calais, Lindsay D Smith, Michela Raponi, Andréa Trevas Maciel-Guerra, Gil Guerra-Junior, Maricilda Palandi de Mello, Diana Baralle
A study of splicing mutations in disorders of sex development. Scientific reports 7 (1) (2017)
Chelsea S Norman, Luke O'Gorman, Jane Gibson, Reuben J Pengelly, Diana Baralle, J Arjuna Ratnayaka, Helen Griffiths, Matthew Rose-Zerilli, Megan Ranger, David Bunyan, Helena Lee, Rhiannon Page, Tutte Newall, Fatima Shawkat, Christopher Mattocks, Daniel Ward, Sarah Ennis, James E Self
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). Scientific reports 7 (1) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Diana Baralle