Concepedia

Shirleny Cardoso

SC

7

Publications

627

Citations

7

H-Index

2015

Active since

Affiliations

Queen Mary University of London(Current)

University College London

Birmingham Children's Hospital

Barts Health NHS Trust

King's College Hospital

Shirleny Cardoso is an author at Queen Mary University of London specializing in medicine, molecular genetics, and genome instability.

ORCID

Top concepts

Publications per year

2015–2020

7

Publications

7

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

Hemanth Tummala, Amanda J. Walne, Laura C. Collopy et al. · Journal of Clinical Investigation · 2015 · 190 citations · Full text

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DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation

Hemanth Tummala, Amanda J. Walne, Mike Williams et al. · The American Journal of Human Genetics · 2016 · 117 citations · Full text

, , +7

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

Ana Rio‐Machín, Tom Vulliamy, Nele Hug et al. · Nature Communications · 2020 · 114 citations · Full text

Triallelic and epigenetic-like inheritance in human disorders of telomerase

Laura C. Collopy, Amanda J. Walne, Shirleny Cardoso et al. · Blood · 2015 · 59 citations · Full text

GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML

Ahad Al Seraihi, Ana Rio‐Machín, Kiran Tawana et al. · Leukemia · 2018 · 59 citations · Full text

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