Showing 1 - 4 results of 4 for search 'Miguel Barroso-Gil', query time: 0.04s Refine Results
  1. 1
    Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies

    Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping thera... by Miguel Barroso‐Gil, Eric Olinger, Simon A. Ramsbottom, Elisa Molinari, Colin G. Miles, John A. Sayer

    Published 2021-12-01
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  2. 2
    The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients [version 2; peer review: 2 approved]

    The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients [version 2; peer review: 2 approved] by Intisar Al Alawi, Mohammed Al Riyami, Miguel Barroso-Gil, Laura Powell, Eric Olinger, Issa Al Salmi, John A. Sayer

    Published 2021-07-01
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  3. 3
    Integrative epigenomics in Sjögren´s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature

    Integrative epigenomics in Sjögren´s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature by María Teruel, Guillermo Barturen, Manuel Martínez-Bueno, Olivia Castellini-Pérez, Miguel Barroso-Gil, Elena Povedano, Martin Kerick, Francesc Català-Moll, Zuzanna Makowska, Anne Buttgereit, PRECISESADS Clinical Consortium, PRECISESADS Flow Cytometry Study Group, Jacques-Olivier Pers, Concepción Marañón, Esteban Ballestar, Javier Martin, Elena Carnero-Montoro, Marta E. Alarcón-Riquelme

    Published 2021-12-01
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  4. 4
    Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy

    Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene... by Eric Olinger, Ian J. Wilson, Sarah Orr, Miguel Barroso-Gil, Ruxandra Neatu, Denize Atan, John A. Sayer, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood

    Published 2024-01-01
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