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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, The American Journal of Human Genetics
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Articles

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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HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders

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By Carolina Jaramillo Oquendo, Federico Ferraro, Htoo A. Wai, Sam Holt, David Bunyan, Laura Donker Kaat, Jeff J. Zhou, Sarah Ennis, John Holloway, Diana Baralle, Heather Ferrao, Herma van der Linde, Evita Karelioti, Liz Tseng, Harsharan Dhillon, Marieke van Dooren, Tjakko J. van Ham
| Nature Verified
Abstract Splice-disrupting variants are estimated to account for one-third of disease-causing variants, yet many remain underrepresented in clinical databases due to limitations in detecting splicing changes beyond canonical splice sites. Short-read RNA sequencing (RNA-seq) has proved to be a valuable complement in clinical practice to address this gap, however, the added value of long-read RNA-seq is unclear.
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