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Diana Baralle on Muck Rack

Diana Baralle

As seen in: Nature, Archives of Disease in Childhood, Journal of Medical Genetics (JMG), MDPI, Genome Medicine, Science Magazine, The American Journal of Human Genetics
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Articles

Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing

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By Ki Baek Lee, Anne Maguire, Joshua Levitt, Julia Carrasco-Zanini, JORGE ANDRADE, Maik Pietzner, Athanasios Kousathanas, Julius O. B. Jacobsen, Jenny Lord, Narasimha Swamy Telugu, Sebastian Diecke, Michael Mülleder, Letizia Vestito, Peter Robinson Verified, Markus Ralser, Diana Baralle, Nicholas J Wareham, Greg Elgar, Michael Potente, Matthew Brown Verified, Mark Caulfield, Damian Smedley, Claudia Langenberg, Dominik Bierbaum
| Science Magazine Verified
Abstract Supplementary Materials REFERENCES AND NOTES Information & Authors Metrics & Citations Check Access References Figures Tables Media Share This article has 0 eLetter . Abstract Despite the introduction of genome sequencing (GS) for rare disease diagnostics, a genetic cause is not identified in most patients. Here, we explored the potential of proteomics to improve the diagnostic yield in 424 patients with rare diseases from the 100,000 Genomes Project (100kGP) without a genetic diagnosis.
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RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium

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By Joanna Domènech-Vivó, Hélène Tubeuf, Romy L.S. Mesman, Aurelie Drouet, María Concepción Alonso-Cerezo, Diana Baralle, David Bunyan, Helen Byers, Sandrine M. Caputo, Kathleen Claes, D. Gareth Evans, Laure Fresard, Conxi Lázaro, Mélanie Leone, Marcy E. Richardson, Jamie D. Weyandt, Judith Balmaña, Amanda B. Spurdle, Orland Díez, Maaike P.G. Vreeswijk, Alexandra Martins, Sara Gutiérrez-Enríquez, Mélanie Girardi, Nadia Boutry-Kryza, Miguel De la Hoya, Mireia Menéndez, Alejandro Moles-Fernández, Gemma Montalban, Erin Mundt, Elke M. Van Veen
| The American Journal of Human Genetics Verified
Keywords BRCA1 exon 18 mRNA splicing profile variant classification BP7_strong(RNA)weights ENIGMA BRCA1/2 VCEP guidelines Get full text access Log in, subscribe or purchase for full access. References 1. Kuchenbaecker, K.B. ∙ Hopper, J.L. ∙ Barnes, D.R. ... Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers JAMA. 2017; 317:2402-2416 2. Domchek, S.M. ∙ Weber, B.L. Clinical management of BRCA1 and BRCA2 mutation carriers Oncogene. 2006; 25:5825-5831 3.
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Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression

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By Jacob Sampson, Ayellet V. Segrè, Kinga M. Bujakowska, Simon Clark, Paul Bishop, Diana Baralle, Stacey Holden, Beverley Anderson, Andrew Hayes, Huw Thomas Verified, Raymond T. O’Keefe, Siddharth Banka, Graeme Black, Panagiotis I. Sergouniotis, Jamie M. Ellingford, Jospin Al-Deek, Rahmat A. Kemal
| Nature Verified
Abstract Genetic disorders impacting vision affect millions of individuals worldwide, including age-related macular degeneration (common) and inherited retinal disorders (rare). There is an incomplete understanding of the impact of genetic variation on gene expression in the human retina and its role in genetic disorders.
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