Research
Research groups
Member of:
Research interests
- RNA
- Splicing
- Genomics
- Transcriptomics
- Genetics
Research projects
Active projects
Researchers:
,
Sponsor: European Union
Sponsor: Medical Research Council
Researchers:
,
Sponsor: British Heart Foundation
Researchers:
,
Sponsor: National Institute of Health and Care Research
Completed projects
Researchers:
Sponsor: The Pura Syndrome Foundation
Researchers:
Sponsor: Newlife the Charity for Disabled Children
Researchers:
Sponsor: Newlife the Charity for Disabled Children
Researchers:
Sponsor: National Institute of Health and Care Research
Publications
130 publications
Page 1 of 13
Maxime Bonnet,
Fiona Roche,
Christine Fagotto-Kaufmann,
Gabriella Gazdagh,
Iona Truong,
Franck Comunale,
Sonia Barbosa,
Marion Bonhomme,
Nicholas Nafati,
David Hunt,
Monserrat Pons Rodriguez,
Ayeshah Chaudhry,
Deborah Shears,
Marcos Madruga,
Fleur Vansenne,
Aurore Curie,
Andry V Kajava,
Diana Baralle,
Coralie Fassier,
Anne Debant,
& Susanne Schmidt
, 2023
, Molecular Psychiatry
Type: article
Elisa Cali,
Mohnish Suri,
Marcello Scala,
Matteo P Ferla,
Shadryar Alavi,
Eissa Ali Faqeih,
Emilia K Bijlsma,
Kristen M Wigby,
Diana Baralle,
Mohammad Yahya Vahidi Mehrjardi,
Jennifer Schwab,
Konrad Platzer,
Katharina Steindl,
Mais Hashem,
Marilyn Jones,
Dmitriy M Niyazov,
Jennifer Jacober,
Rebecca O. Littlejohn,
Denisa Weis,
Neda Zadeh,
Lance Rodan,
Alice Goldenberg,
Francois Lecoquierre,
Marina Dutra-Clarke,
Gabriella Horvarth,
Dana Young,
Naama Orenstein,
Shahad Bawazeer,
A.T. Vulto-van Silfhout,
Yvan Herenger,
M. Dehghanian,
Seyed Mohammad Seyedhassani,
Amir Bahreini,
Mahya Ebrahimi Nasab,
A Gulhan Ercan-Sencicek,
Zahra Firoozfar,
Mojtaba Movahedinia,
Stephanie Efthymiou,
Pasquale Striano,
Ehsan Ghayoor Karimiani ,
Vincenzo Salpietro,
Jenny C. Taylor,
Melody Redman,
Alexander P.A. Stegmann,
Andrea Laner,
Ghada Abdel-Salam,
Megan Li,
Mario Bengala,
Amelie Johanna Muller,
Maria Cristina Digilio,
Anita Rauch,
Murat Gunel,
Hannah Titheradge,
Daniela N Schweitzer,
Alison Kraus,
Irene Valenzuela,
Scott D Mclean,
Chanika Phornphutkul,
Mustafa Salih,
Amber Begtrup,
Rhonda E Schnur,
Erin Torti,
Tobias B Haack,
Carlos E Prada,
Fowzan S Alkuraya,
Henry Houlden,
& Reza Maroofian
, 2023
, Genetics in Medicine
, 25 (1) , 135--142
Type: article
Alistair T. Pagnamenta,
Yu Jing,
Tracey A. Willis,
Mona Hashim,
Eleanor Grace Seaby,
Susan Walker,
Katrina Xian,
Emily W.Y. Cheng,
Ana Lisa Taylor Tavares,
Francesca Forzano,
Helen Cox,
Angela F Brady,
Tabib Dabir,
Neeti Ghali,
Santosh S. Antanur,
Sarah Ennis,
Jenny C. Taylor,
&
, 2023
, Human Mutation
Type: article
Rebekah Penrice-Randal,
Xiaofeng Dong,
Aaron Gardner,
Nicholas Harding,
Jelmer Legebeke,
Andres F Vallejo,
Stephen Poole,
Catherine Hartley,
Anthony P Williams,
Gabrielle Wheway,
Marta E Polak,
Fabio Strazzeri,
James P R Schofield,
Julian A Hiscox,
, 2022
, Frontiers in Immunology
, 13
Type: article
Mads Thomassen,
Romy LS Mesman,
Thomas V O Hansen,
Mireia Menendez,
Maria Rossing,
Ada Esteban-Sanchez,
Emma Tudini,
Therese Torngren,
Michael T. Parsons,
Inge Sokilde Pedersen,
Soo-Hwang Teo,
Torben A Kruse,
Pål Møller,
Ake Borg,
Uffe Birk Jensen,
Lise Lotte Christensen,
Christian F. Singer,
Daniela Muhr,
Marta Santamarina,
Rita Brandao,
Brage S Andresen,
Bing-Jian Feng,
Daffodil Canson,
Marcy E Richardson,
Rachid Karam,
Tina Pesaran,
Holly LaDuca,
Blair R Conner,
Nelly Abualkheir,
Lily Hoang,
Fabienne M G R Calleja,
Lesley Andrews,
Paul A. James,
David Bunyan,
Amanda Hamblett,
Paolo Radice,
David E Goldgar,
Logan C. Walker,
Christoph Engel,
Kathleen B.M. Claes,
Eva Machackova,
Diana Baralle,
Alessandra Viel,
Barbara Wappenschmidt,
Conxi Lazaro,
Ana Vega,
,
Maaike P. G. Vreeswijk,
Miguel de la Hoya,
& Amanda B Spurdle
, 2022
, Human Mutation
, 43 (12) , 1921--1944
DOI: 10.1002/humu.24449
Type: article
Eleanor G. Seaby,
N. Simon Thomas,
Amy Webb,
Helen Brittain,
Ana Lisa Taylor Tavares,
Heidi L. Rehm,
Anne O’Donnell-Luria,
, 2022
Type: other
Jelmer Legebeke,
Rebekah Penrice-Randal,
Stephen Poole,
Xiaofeng Dong,
Catherine Hartley,
Anthony Williams,
Gabrielle Wheway,
Fabio Strazzeri,
Aaron Gardner,
James P R Schofield,
Julian A. Hiscox,
Marta Polak,
, 2022
, Frontiers in Immunology
, 853265
Type: article
R. Richardson,
Diana Baralle,
C. Bennett,
T Briggs,
E.K. Bijlsma,
J. Clayton-Smith,
P. Constantinou,
Nicola Foulds,
J. Jarvis,
R. Jewell,
D.S. Johnson,
M. McEntagart,
M.J. Parker,
J.A. Radley,
L. Robertson,
C.A.L. Ruivenkamp,
J. Rutten,
J Tellez,
P. Turnpenny,
V Wilson,
M. Wright,
& M. Balasubramanian
, 2022
, American Journal of Medical Genetics: Part A
, 188 (3) , 867--877
DOI: 10.1002/ajmg.a.62595
Type: article
Yaron Strauch,
Diana Baralle,
& Alexander F. Palazzo
, 2022
, PLoS ONE
, 17 (6 June) , e0269159
Type: article
Temporal whole-transcriptomic analysis of characterized in vitro and ex vivo primary nasal epithelia
Jelmer Legebeke,
Janice Coles,
Amanda Harris,
Gabrielle Wheway,
Diana Baralle,
, 2022
, Frontiers in Cell and Developmental Biology
, 10 , 907511
Type: article
Supervision
Current PhD Students
Eleanor Grace Seaby
PhD Human Development & HlthPT
Jed Lye
PhD Human Development & Hlth
PhD Human Development & Hlth
PhD Human Genetics
Sophie Powell
PhD SoCoBio
Eliska Svobodova
PGR Visiting Research Medicine
PhD Infection Inflamm&Immunity
External roles and responsibilities
Name:
Archives of Disease in Childhood (Journal)
Role:
Reviewer
Year:
2017 - 2022
Name:
Frontiers in Genetics (Journal)
Role:
Reviewer
Year:
2018 - 2022
Name:
Clinical Genetics Society treasurer (External organisation)
Role:
Chair
Year:
2014 - 2022
Name:
Mutations in the Rac-GEDF and Spectrin repeat domains of TRIO produce clinically distinct neuro-behavioural syndromes.
Role:
Speaker
Year:
2018
Name:
RNA in genomic medicine
Role:
Speaker
Year:
2019
Name:
Bi-omics conference Southampton
Role:
Speaker
Year:
2019
Name:
British Society Genetic Medicine
Role:
Speaker
Year:
2019
Name:
Humanitas University, Milan
Role:
Speaker
Year:
2019
Name:
plenary 2nd International Caparica conference in splicing
Role:
Speaker
Year:
2018
Name:
NIHR SI day
Role:
Speaker
Year:
2018
Biography
Professor Baralle is Professor of Genomic Medicine and Associate Dean (Research) in the Faculty of Medicine at the University of Southampton.
She was also awarded the prestigious NIHR Research Professorship in 2017 and is the Vice President and President elect of the Clinical Genetics Society.
Having graduated in medicine from the University of London, she trained first in Paediatrics and then Clinical Genetics. She completed her MD and research training fellowship in the Department of Pathology, Cambridge University. She held an academic position in Cambridge before her current appointment in Southampton and combines her clinical work with research.
Professor Baralle leads a group that investigates the role of RNA and splicing in genetic disease, new methods for genetic diagnostic testing, and the causes of rare disease syndromes. She is clinical specialty lead for Genetics for the Wessex CRN. Her group comprises both clinical and non-clinical scientists and students.
She is a consultant in Clinical Genetics at University Hospital Southampton NHS Foundation Trust, and has general genetics clinics as well as a specialist oculogenetics clinic.
Prizes
- NIHR Research Professor (2016)