M. Szynkiewicz

Most-cited papers

1. Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

   G. Rice, Paul R. Kasher, G. Forte, Niamh M. Mannion +50 more

   2012Nature Genetics880 citations Open access

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2. Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

   Y. Crow, D. Chase, Johanna L. Schmidt, M. Szynkiewicz +132 more

   2015American Journal of Medical Genetics. Part A562 citations Open access

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3. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

   G. Rice, G. Forte, M. Szynkiewicz, D. Chase +52 more

   2013Lancet Neurology423 citations Open access

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4. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

   B. Anderson, Paul R. Kasher, Joséphine Mayer, M. Szynkiewicz +60 more

   2012Nature Genetics276 citations Open access

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5. Tartrate resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

   T. Briggs, G. Rice, Sarah B. Daly, J. Urquhart +36 more

   2011Nature Genetics253 citations Open access

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6. Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell–Defective Apoptosis and Hyperproliferation

   A. Belot, Paul R. Kasher, Eleanor W. Trotter, A. Foray +31 more

   2013Arthritis & Rheumatism185 citations Open access

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7. A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1

   J. Livingston, Jean-Pierre Lin, R. Dale, Deepak Gill +12 more

   2013Journal of Medical Genetics152 citations

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8. Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

   J. Ravenscroft, M. Suri, Gillian I. Rice, M. Szynkiewicz +1 more

   2011American Journal of Medical Genetics. Part A115 citations Open access

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9. Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis

   V. Ramesh, B. Bernardi, A. Stafa, C. Garone +15 more

   2010Developmental Medicine & Child Neurology112 citations Open access

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10. Differential regulation of oestrogen receptor β isoforms by 5′ untranslated regions in cancer

    Laura Smith, R. Brannan, A. Hanby, A. Shaaban +7 more

    2009Journal of Cellular and Molecular Medicine37 citations Open access

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11. Chilblains as a diagnostic sign of aicardi-goutières syndrome.

    G. Abdel-Salam, Ghada El-Kamah, G. Rice, M. El-Darouti +7 more

    2010Neuropediatrics36 citations

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12. Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome

    G. Rice, Martin A. M. Reijns, Stephanie R. Coffin, G. Forte +15 more

    2013Human Mutation25 citations Open access

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13. Novel CE-Marked SARS-CoV-2 IVD Assay Solves the Problem for Genomic DNA Contamination

    Velislava Ilieva, E. M. Flynn, Jessica M. C. Marvin, M. Szynkiewicz +4 more

    2021Current Trends in Medical Diagnostic Methods0 citations Open access

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