Concepedia

Marcin Szynkiewicz

MS

Statistics

Publications

13

Citations

3.2K

H-Index

13

Active since

2001

Affiliations

University of Manchester(Current)

Manchester Academic Health Science Centre

Université Paris Cité

Leeds General Infirmary

Inserm

Marcin Szynkiewicz is an author at University of Manchester specializing in genetics, life sciences, and medical genetics.

Publications per year

2001–2015

13

Publications

13

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

Gillian Rice, Paul R. Kasher, Gabriella Forte et al. · Nature Genetics · 2012 · 943 citations

, , +9

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 613 citations · Full text

, , +9

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

Gillian Rice, Gabriella Forte, Marcin Szynkiewicz et al. · The Lancet Neurology · 2013 · 438 citations

, , +16

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

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 291 citations · Full text

, , +13

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

Tracy A. Briggs, Gillian Rice, Sarah B. Daly et al. · Nature Genetics · 2011 · 259 citations · Full text

, , +14

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