Publications by authors named "Diana Baralle"

66Publications

Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.

Exp Eye Res 2020 Mar 31;192:107950. Epub 2020 Jan 31.

Department of Engineering, Design and Mathematics, University of the West of England, Bristol, UK.

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http://dx.doi.org/10.1016/j.exer.2020.107950DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7065041PMC
March 2020

Exploring the RNA Gap for Improving Diagnostic Yield in Primary Immunodeficiencies.

Front Genet 2019 11;10:1204. Epub 2019 Dec 11.

University of Southampton Medical School, University of Southampton, Southampton, United Kingdom.

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http://dx.doi.org/10.3389/fgene.2019.01204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917654PMC
December 2019

Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing.

Cells 2019 11 26;8(12). Epub 2019 Nov 26.

North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester M13 9WJ, UK.

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http://dx.doi.org/10.3390/cells8121513DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6953098PMC
November 2019

Splicing in the pathogenesis, diagnosis and treatment of ciliopathies.

Biochim Biophys Acta Gene Regul Mech 2019 Nov - Dec;1862(11-12):194433. Epub 2019 Nov 4.

Faculty of Medicine, University of Southampton, Human Development and Health, United Kingdom of Great Britain and Northern Ireland; University Hospital Southampton NHS Foundation Trust, United Kingdom of Great Britain and Northern Ireland. Electronic address:

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http://dx.doi.org/10.1016/j.bbagrm.2019.194433DOI Listing
February 2020

Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes.

Arch Dis Child 2020 04 3;105(4):384-389. Epub 2019 Sep 3.

Genetic Medicine, Central Manchester University Hospitals Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1136/archdischild-2018-316547DOI Listing
April 2020

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.

Am J Hum Genet 2019 04 14;104(4):596-610. Epub 2019 Mar 14.

Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H4A 3J1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451697PMC
April 2019

RNA splicing analysis in genomic medicine.

Int J Biochem Cell Biol 2019 03 27;108:61-71. Epub 2018 Dec 27.

Human Development and Health, Faculty of Medicine, University of Southampton, UK; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2018.12.009DOI Listing
March 2019

Gene-specific metrics to facilitate identification of disease genes for molecular diagnosis in patient genomes: a systematic review.

Brief Funct Genomics 2019 02;18(1):23-29

Genetic Epidemiology and Bioinformatics Research Group, Human Development and Health, Faculty of Medicine, University of Southampton, UK.

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http://dx.doi.org/10.1093/bfgp/ely033DOI Listing
February 2019

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

A study of splicing mutations in disorders of sex development.

Sci Rep 2017 11 24;7(1):16202. Epub 2017 Nov 24.

Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.

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http://dx.doi.org/10.1038/s41598-017-16296-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701223PMC
November 2017

RNA splicing in human disease and in the clinic.

Clin Sci (Lond) 2017 Mar;131(5):355-368

International Centre for Genetic Engineering and Biotechnology (ICGEB), 34149 Trieste, Italy

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http://dx.doi.org/10.1042/CS20160211DOI Listing
March 2017

Novel splice-switching oligonucleotide promotes BRCA1 aberrant splicing and susceptibility to PARP inhibitor action.

Int J Cancer 2017 04 30;140(7):1564-1570. Epub 2017 Jan 30.

Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.

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http://dx.doi.org/10.1002/ijc.30574DOI Listing
April 2017

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

Hum Mol Genet 2016 06 23;25(11):2256-2268. Epub 2016 Mar 23.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia

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http://hmg.oxfordjournals.org/content/early/2016/03/23/hmg.d
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http://www.hmg.oxfordjournals.org/lookup/doi/10.1093/hmg/ddw
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http://dx.doi.org/10.1093/hmg/ddw094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081057PMC
June 2016

Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.

Am J Med Genet A 2016 Apr 15;170A(4):1017-22. Epub 2016 Jan 15.

Department of Ophthalmology, Southampton General Hospital, Southampton, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37436DOI Listing
April 2016

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Pallister-Killian syndrome: a study of 22 British patients.

J Med Genet 2015 Jul 17;52(7):454-64. Epub 2015 Apr 17.

Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton, UK Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102877DOI Listing
July 2015

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

J Med Genet 2014 Dec 23;51(12):806-13. Epub 2014 Oct 23.

Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, Hampshire, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102798DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4251168PMC
December 2014

RBFOX2 protein domains and cellular activities.

Biochem Soc Trans 2014 Aug;42(4):1180-3

*Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Institute of Developmental Sciences Building, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, U.K.

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http://dx.doi.org/10.1042/BST20140050DOI Listing
August 2014

BRCA1 EXON 11, a CERES (composite regulatory element of splicing) element involved in splice regulation.

Int J Mol Sci 2014 Jul 23;15(7):13045-59. Epub 2014 Jul 23.

Human Development and Health, University of Southampton, Southampton SO16 6YD, UK.

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http://dx.doi.org/10.3390/ijms150713045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4139890PMC
July 2014

BRCA1 exon 11 a model of long exon splicing regulation.

RNA Biol 2014 18;11(4):351-9. Epub 2014 Mar 18.

University of Southampton; Southampton, United Kingdom.

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http://dx.doi.org/10.4161/rna.28458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4075520PMC
January 2015

Role of pseudoexons and pseudointrons in human cancer.

Int J Cell Biol 2013 24;2013:810572. Epub 2013 Sep 24.

Department of Life Sciences, University of Trieste, Via A. Valerio 28, 34127 Trieste, Italy.

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http://dx.doi.org/10.1155/2013/810572DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3800588PMC
June 2014

BRCA1 exon 11 alternative splicing, multiple functions and the association with cancer.

Biochem Soc Trans 2012 Aug;40(4):768-72

Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.

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http://dx.doi.org/10.1042/BST20120140DOI Listing
August 2012

Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11.

PLoS One 2012 16;7(5):e37255. Epub 2012 May 16.

Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0037255PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3353946PMC
September 2012

Exon skipping mutations in neurofibromatosis.

Methods Mol Biol 2012 ;867:65-76

Department of Molecular Pathology, ICGEB, Trieste, Italy.

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http://dx.doi.org/10.1007/978-1-61779-767-5_5DOI Listing
July 2012

King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Neuromuscul Disord 2011 Jun 22;21(6):420-7. Epub 2011 Apr 22.

Division of Pediatric Neurology, Pediatric Neuromuscular Clinic, 5328 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1016/j.nmd.2011.03.006DOI Listing
June 2011

Anophthalmia in fronto-facial-nasal dysplasia.

Clin Dysmorphol 2011 Apr;20(2):73-4

Wessex Clinical Genetics Service, Academic Unit of Genetic Medicine, University of Southampton, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328343515cDOI Listing
April 2011

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.

Hum Mutat 2011 Apr 8;32(4):436-44. Epub 2011 Mar 8.

University of Southampton School of Medicine, Southampton, United Kingdom.

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http://dx.doi.org/10.1002/humu.21458DOI Listing
April 2011

Novel roles of U1 snRNP in alternative splicing regulation.

RNA Biol 2010 Jul-Aug;7(4):412-9. Epub 2010 Jul 1.

International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.

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http://dx.doi.org/10.4161/rna.7.4.12153DOI Listing
January 2011

RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases.

Eur J Hum Genet 2010 Jun 24;18(6):737-8. Epub 2010 Feb 24.

Inserm U614, Faculty of Medicine, Rouen Institute for Biomedical Research, Rouen, France.

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http://dx.doi.org/10.1038/ejhg.2010.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987332PMC
June 2010

Novel aspects of alternative splicing.

Authors:
Diana Baralle

FEBS J 2010 Feb 15;277(4):835. Epub 2010 Jan 15.

Academic Unit of Genetic Medicine, Human Genetics Division, University of Southampton, Southampton General Hospital, UK.

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http://dx.doi.org/10.1111/j.1742-4658.2009.07518.xDOI Listing
February 2010

Missed threads. The impact of pre-mRNA splicing defects on clinical practice.

EMBO Rep 2009 Aug;10(8):810-6

Human Genetics Division, University of Southampton School of Medicine, Southampton, UK.

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http://dx.doi.org/10.1038/embor.2009.170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2726684PMC
August 2009

Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer.

Fam Cancer 2009 21;8(4):479-82. Epub 2009 Jul 21.

Wessex Clinical Genetics Service, Princess Anne Hospital, Level G, Southampton, Hampshire SO16 5YA, UK.

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http://dx.doi.org/10.1007/s10689-009-9270-8DOI Listing
January 2010

Low U1 snRNP dependence at the NF1 exon 29 donor splice site.

FEBS J 2009 Apr;276(7):2060-73

Department of Pathology, University of Cambridge, UK.

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http://dx.doi.org/10.1111/j.1742-4658.2009.06941.xDOI Listing
April 2009

Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1.

FEBS J 2008 Dec 1;275(24):6101-8. Epub 2008 Nov 1.

Human Genetics Division, University of Southampton, UK.

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http://dx.doi.org/10.1111/j.1742-4658.2008.06734.xDOI Listing
December 2008

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Can donor splice site recognition occur without the involvement of U1 snRNP?

Biochem Soc Trans 2008 Jun;36(Pt 3):548-50

Human Genetics Division, University of Southampton, Duthie Building (Mailpoint 808), Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK.

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http://dx.doi.org/10.1042/BST0360548DOI Listing
June 2008

NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region.

FEBS Lett 2006 Aug 14;580(18):4449-56. Epub 2006 Jul 14.

International Centre for Genetic Engineering and Biotechnology, ICGEB, Padriciano 99, 34012 Trieste, Italy.

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http://dx.doi.org/10.1016/j.febslet.2006.07.018DOI Listing
August 2006

PMS2 mutations in childhood cancer.

J Natl Cancer Inst 2006 Mar;98(5):358-61

University of Leeds, Yorkshire Regional Genetics Service, United Kingdom.

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http://dx.doi.org/10.1093/jnci/djj073DOI Listing
March 2006