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  • Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression

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Genotype-phenotype correlations
Original research
Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression

Authors

  • Betiana Michelle Ziegler Laboratorio de Genética Molecular de la Hemofilia, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina PubMed articlesGoogle scholar articles
  • Miguel Martin Abelleyro Laboratorio de Genética Molecular de la Hemofilia, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina PubMed articlesGoogle scholar articles
  • Vanina Daniela Marchione Laboratorio de Genética Molecular de la Hemofilia, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina PubMed articlesGoogle scholar articles
  • Nicolás Lazarte Unidad de Bioinformática, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina PubMed articlesGoogle scholar articles
  • Martín Manuel Ledesma Unidad de Bioinformática, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina PubMed articlesGoogle scholar articles
  • Ludmila Elhelou Hematology, Fundación de la Hemofilia, Buenos Aires, Argentina PubMed articlesGoogle scholar articles
  • Daniela Neme Hematology, Fundación de la Hemofilia, Buenos Aires, Argentina PubMed articlesGoogle scholar articles
  • Liliana Carmen Rossetti Laboratorio de Genética Molecular de la Hemofilia, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina PubMed articlesGoogle scholar articles
  • Enrique Medina-Acosta Center for Biosciences and Biotechnology, State University of North Fluminense Darcy Ribeiro, Campos dos Goytacazes, Brazil PubMed articlesGoogle scholar articles
  • Florencia Giliberto Laboratorio de Distrofinopatías, Facultad de Farmacia y Bioquímica, Cátedra de Genética, Universidad de Buenos Aires, Buenos Aires, Argentina Instituto de Inmunología, Genética y Metabolismo (INIGEM), CONICET-UBA, Buenos Aires, Argentina PubMed articlesGoogle scholar articles
  • Carlos De Brasi Laboratorio de Genética Molecular de la Hemofilia, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina PubMed articlesGoogle scholar articles
  • Claudia Pamela Radic Laboratorio de Genética Molecular de la Hemofilia, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Claudia Pamela Radic, Laboratorio de Genética Molecular de la Hemofilia, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires 3081, Argentina; yocpamelita{at}yahoo.com.ar
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Citation

Ziegler BM, Abelleyro MM, Marchione VD, et al
Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression
Journal of Medical Genetics 2024;61:769-776.

Publication history

  • Received January 23, 2024
  • Accepted April 22, 2024
  • First published May 6, 2024.
Online issue publication 
July 19, 2024

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© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.