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1971 1
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2019 1
2021 2
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2023 2
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Page 1
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L, Collins J, Sims MC, Barrio-Hernandez I, Sun L, Burren OS, Perfetto L, Bender I, Callahan TJ, Fleming K, Guerrero JA, Hermjakob H, Martin MJ, Stephenson J, Paneerselvam K, Petrovski S, Porras P, Robinson PN, Wang Q, Watkins X, Frontini M, Laskowski RA, Beltrao P, Di Angelantonio E, Gomez K, Laffan M, Ouwehand WH, Mumford AD, Freson K, Carss K, Downes K, Gleadall N, Megy K, Bruford E, Vuckovic D. Stefanucci L, et al. Blood. 2023 Dec 14;142(24):2055-2068. doi: 10.1182/blood.2023020118. Blood. 2023. PMID: 37647632 Free PMC article.
A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.
Akbari P, Vuckovic D, Stefanucci L, Jiang T, Kundu K, Kreuzhuber R, Bao EL, Collins JH, Downes K, Grassi L, Guerrero JA, Kaptoge S, Knight JC, Meacham S, Sambrook J, Seyres D, Stegle O, Verboon JM, Walter K, Watkins NA, Danesh J, Roberts DJ, Di Angelantonio E, Sankaran VG, Frontini M, Burgess S, Kuijpers T, Peters JE, Butterworth AS, Ouwehand WH, Soranzo N, Astle WJ. Akbari P, et al. Among authors: stefanucci l. Nat Commun. 2023 Aug 18;14(1):5023. doi: 10.1038/s41467-023-40679-y. Nat Commun. 2023. PMID: 37596262 Free PMC article.
Transcriptional, epigenetic and metabolic signatures in cardiometabolic syndrome defined by extreme phenotypes.
Seyres D, Cabassi A, Lambourne JJ, Burden F, Farrow S, McKinney H, Batista J, Kempster C, Pietzner M, Slingsby O, Cao TH, Quinn PA, Stefanucci L, Sims MC, Rehnstrom K, Adams CL, Frary A, Ergüener B, Kreuzhuber R, Mocciaro G, D'Amore S, Koulman A, Grassi L, Griffin JL, Ng LL, Park A, Savage DB, Langenberg C, Bock C, Downes K, Wareham NJ, Allison M, Vacca M, Kirk PDW, Frontini M. Seyres D, et al. Among authors: stefanucci l. Clin Epigenetics. 2022 Mar 12;14(1):39. doi: 10.1186/s13148-022-01257-z. Clin Epigenetics. 2022. PMID: 35279219 Free PMC article.
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
Lentaigne C, Greene D, Sivapalaratnam S, Favier R, Seyres D, Thys C, Grassi L, Mangles S, Sibson K, Stubbs M, Burden F, Bordet JC, Armari-Alla C, Erber W, Farrow S, Gleadall N, Gomez K, Megy K, Papadia S, Penkett CJ, Sims MC, Stefanucci L, Stephens JC, Read RJ, Stirrups KE, Ouwehand WH, Laffan MA; NIHR BioResource; Frontini M, Freson K, Turro E. Lentaigne C, et al. Among authors: stefanucci l. Blood. 2019 Dec 5;134(23):2070-2081. doi: 10.1182/blood.2019000782. Blood. 2019. PMID: 31217188 Free article.
Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency.
de la Morena-Barrio B, Stephens J, de la Morena-Barrio ME, Stefanucci L, Padilla J, Miñano A, Gleadall N, García JL, López-Fernández MF, Morange PE, Puurunen M, Undas A, Vidal F, Raymond FL, Vicente V, Ouwehand WH, Corral J, Sanchis-Juan A; NIHR BioResource. de la Morena-Barrio B, et al. Among authors: stefanucci l. Thromb Haemost. 2022 Aug;122(8):1369-1378. doi: 10.1055/s-0042-1749345. Epub 2022 Jun 28. Thromb Haemost. 2022. PMID: 35764313 Free PMC article.
A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant.
Morange PE, Peiretti F, Gourhant L, Proust C, Soukarieh O, Pulcrano-Nicolas AS, Saripella GV, Stefanucci L, Lacroix R, Ibrahim-Kosta M, Lemarié CA, Frontini M, Alessi MC, Trégouët DA, Couturaud F. Morange PE, et al. Among authors: stefanucci l. PLoS Genet. 2021 Jan 19;17(1):e1009284. doi: 10.1371/journal.pgen.1009284. eCollection 2021 Jan. PLoS Genet. 2021. PMID: 33465109 Free PMC article.
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
Sanchis-Juan A, Stephens J, French CE, Gleadall N, Mégy K, Penkett C, Shamardina O, Stirrups K, Delon I, Dewhurst E, Dolling H, Erwood M, Grozeva D, Stefanucci L, Arno G, Webster AR, Cole T, Austin T, Branco RG, Ouwehand WH, Raymond FL, Carss KJ. Sanchis-Juan A, et al. Among authors: stefanucci l. Genome Med. 2018 Dec 7;10(1):95. doi: 10.1186/s13073-018-0606-6. Genome Med. 2018. PMID: 30526634 Free PMC article.
Familial pseudohyperkalemia induces significantly higher levels of extracellular potassium in early storage of red cell concentrates without affecting other standard measures of quality: A case control and allele frequency study.
Meli A, McAndrew M, Frary A, Rehnstrom K, Stevens-Hernandez CJ, Flatt JF, Griffiths A, Stefanucci L, Astle W, Anand R, New HV, Bruce LJ, Cardigan R. Meli A, et al. Among authors: stefanucci l. Transfusion. 2021 Aug;61(8):2439-2449. doi: 10.1111/trf.16440. Epub 2021 May 7. Transfusion. 2021. PMID: 33960432
11 results