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  • Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples

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Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples

Authors

  • Anna Abulí Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain PubMed articlesGoogle scholar articles
  • Mar Costa-Roger Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain PubMed articlesGoogle scholar articles
  • Marta Codina-Solà Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain PubMed articlesGoogle scholar articles
  • Irene Valenzuela Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain PubMed articlesGoogle scholar articles
  • Jordi Leno-Colorado Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain PubMed articlesGoogle scholar articles
  • Eulàlia Rovira-Moreno Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain PubMed articlesGoogle scholar articles
  • Anna Cueto-González Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain PubMed articlesGoogle scholar articles
  • Paula Fernández-Álvarez Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain PubMed articlesGoogle scholar articles
  • Elena García-Arumí Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Ivon Cuscó Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Eduardo F Tizzano Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Anna Abulí, Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain; anna.abuli{at}vallhebron.cat
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Citation

Abulí A, Costa-Roger M, Codina-Solà M, et al
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples
Journal of Medical Genetics 2023;60:540-546.

Publication history

  • Received March 30, 2022
  • Accepted October 5, 2022
  • First published December 8, 2022.
Online issue publication 
May 22, 2023

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© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.