All Stories

  1. A homozygous missense variant in PTPN2 with early-onset Crohn’s disease, growth failure and dysmorphic features in an infant: a case report

    Article • Journal of Genetics, July 2023, Springer Science + Business Media

    Mirna Souaid

  2. Novel SCN9A variant associated with congenital insensitivity to pain

    Article • Molecular Biology Reports, May 2023, Springer Science + Business Media

    Mirna Souaid

  3. Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features

    Article • Clinical Dysmorphology, February 2023, Wolters Kluwer Health

    Mirna Souaid

  4. Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants

    Article • Molecular Genetics & Genomic Medicine, January 2023, Wiley

    Mirna Souaid

  5. PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy

    Article • Annals of Clinical and Translational Neurology, July 2022, Wiley

    Mirna Souaid

  6. CFTR mutational screening by next‐generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population

    Article • Annals of Human Genetics, December 2021, Wiley

    Mirna Souaid

  7. Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy

    Article • Ophthalmic Genetics, July 2021, Taylor & Francis

    Mirna Souaid

  8. The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study

    Article • Hemoglobin, May 2021, Taylor & Francis

    Mirna Souaid

  9. Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin–Lowry syndrome in a family with variable features and diabetes 2

    Article • Clinical Dysmorphology, August 2020, Wolters Kluwer Health

    Mirna Souaid

  10. 17p13.3 Microduplication Syndrome: Further Delineating the Clinical Spectrum

    Article • Journal of Pediatric Genetics, July 2020, Thieme Publishing Group

    Mirna Souaid

  11. BACs-on-Beads™ assay, a rapid aneuploidy test, improves the diagnostic yield of conventional karyotyping

    Article • Molecular Biology Reports, October 2019, Springer Science + Business Media

    Mirna Souaid

  12. Molecular Characteristics of Duchenne Muscular Dystrophy in a Lebanese Cohort

    Article • Journal of Molecular and Genetic Medicine, January 2018, OMICS Publishing Group

    Mirna Souaid

  13. Genetics of autoimmune thyroid disease in the Lebanese population

    Article • Journal of Community Genetics, March 2012, Springer Science + Business Media

    Mirna Souaid

  14. Acceptance of preimplantation genetic diagnosis for β-thalassemia in Lebanese women with previously affected children

    Article • Prenatal Diagnosis, September 2008, Wiley

    Professor Pascale Salameh, Mirna Souaid

  15. Cystic fibrosis: A new mutation in the Lebanese population

    Article • Journal of Cystic Fibrosis, September 2008, Elsevier

    Mirna Souaid

  16. Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study

    Article • European Journal of Medical Genetics, March 2006, Elsevier

    Andre Megarbane, Mirna Souaid