Franca M. di Summa

Evidence for at Least Eight Fanconi Anemia Genes

Hans Joenje, Anneke B. Oostra, Mario Wijker et al. · The American Journal of Human Genetics · 1997 · 284 citations · Full text

Biology, Genetic Disorder, Medicine +5

Seroreactivity to epidermodysplasia verruciformis-related human papillomavirus types is associated with nonmelanoma skin cancer.

Mariet C.W. Feltkamp, R. Broer, Franca M. di Summa et al. · PubMed · 2003 · 133 citations

Pathology, Hpv Infection, Dermatology +16

A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism

Nahuel A. Paolini, Martin Attwood, Samuel B. Sondalle et al. · The American Journal of Human Genetics · 2017 · 87 citations · Full text

Genetic Disorder, Genetics, Molecular Genetics +2

Recurring mutations in <i>RPL15</i> are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia

Marcin W. Włodarski, Lydie Da Costa, Marie-Françoise O’Donohue et al. · Haematologica · 2018 · 39 citations · Full text

Ribosome profiling uncovers selective mRNA translation associated with eIF2 phosphorylation in erythroid progenitors

Nahuel A. Paolini, Kat Moore, Franca M. di Summa et al. · PLoS ONE · 2018 · 19 citations · Full text

Reductive Stress, Transcriptional Regulation, Systems Biology +12