Alicia Ellison

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 · 121 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

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 · 116 citations · Full text

Life Sciences, Genetics, Hematology +17

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

Life Sciences, Genetics, Molecular Genetics +5

Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic <i>ERCC6L2</i> variants

Hemanth Tummala, Arran Dokal, Amanda J. Walne et al. · Proceedings of the National Academy of Sciences · 2018 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

A. J. Walne, Laura C. Collopy, Shirleny Cardoso et al. · Haematologica · 2016 · 45 citations · Full text

Life Sciences, Dermatology, Genetics +13