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Page 1
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.
Am J Hum Genet. 2017 Mar 2;100(3):506-522. doi: 10.1016/j.ajhg.2017.01.034.
Am J Hum Genet. 2017.
PMID: 28257692
Free PMC article.
Ribosome profiling uncovers selective mRNA translation associated with eIF2 phosphorylation in erythroid progenitors.
Paolini NA, Moore KS, di Summa FM, Fokkema IFAC, 't Hoen PAC, von Lindern M.
Paolini NA, et al. Among authors: di summa fm.
PLoS One. 2018 Apr 10;13(4):e0193790. doi: 10.1371/journal.pone.0193790. eCollection 2018.
PLoS One. 2018.
PMID: 29634759
Free PMC article.
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Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.
Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainmann I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, Leblanc T, Niemeyer CM, Gleizes PE, MacInnes AW.
Wlodarski MW, et al. Among authors: di summa fm.
Haematologica. 2018 Jun;103(6):949-958. doi: 10.3324/haematol.2017.177980. Epub 2018 Mar 29.
Haematologica. 2018.
PMID: 29599205
Free PMC article.
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Production of recombinant H1 parvovirus stocks devoid of replication-competent viruses.
Brown CS, DiSumma FM, Rommelaere J, Dege AY, Cornelis JJ, Dinsart C, Spaan WJ.
Brown CS, et al.
Hum Gene Ther. 2002 Dec 10;13(18):2135-45. doi: 10.1089/104303402320987833.
Hum Gene Ther. 2002.
PMID: 12542845
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Evidence for at least eight Fanconi anemia genes.
Joenje H, Oostra AB, Wijker M, di Summa FM, van Berkel CG, Rooimans MA, Ebell W, van Weel M, Pronk JC, Buchwald M, Arwert F.
Joenje H, et al. Among authors: di summa fm.
Am J Hum Genet. 1997 Oct;61(4):940-4. doi: 10.1086/514881.
Am J Hum Genet. 1997.
PMID: 9382107
Free PMC article.
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Seroreactivity to epidermodysplasia verruciformis-related human papillomavirus types is associated with nonmelanoma skin cancer.
Feltkamp MC, Broer R, di Summa FM, Struijk L, van der Meijden E, Verlaan BP, Westendorp RG, ter Schegget J, Spaan WJ, Bouwes Bavinck JN.
Feltkamp MC, et al. Among authors: di summa fm.
Cancer Res. 2003 May 15;63(10):2695-700.
Cancer Res. 2003.
PMID: 12750299
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