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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. Among authors: stephenson j. Blood. 2023 Dec 14;142(24):2055-2068. doi: 10.1182/blood.2023020118. Blood. 2023. PMID: 37647632 Free PMC article.
VarSite: Disease variants and protein structure.
Laskowski RA, Stephenson JD, Sillitoe I, Orengo CA, Thornton JM. Laskowski RA, et al. Protein Sci. 2020 Jan;29(1):111-119. doi: 10.1002/pro.3746. Epub 2019 Oct 27. Protein Sci. 2020. PMID: 31606900 Free PMC article.
Quantifying the contribution of recessive coding variation to developmental disorders.
Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study. Martin HC, et al. Among authors: stephenson jd. Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8. Science. 2018. PMID: 30409806 Free PMC article.
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.
Radford EJ, Tan HK, Andersson MHL, Stephenson JD, Gardner EJ, Ironfield H, Waters AJ, Gitterman D, Lindsay S, Abascal F, Martincorena I, Kolesnik-Taylor A, Ng-Cordell E, Firth HV, Baker K, Perry JRB, Adams DJ, Gerety SS, Hurles ME. Radford EJ, et al. Among authors: stephenson jd. Nat Commun. 2023 Dec 6;14(1):7702. doi: 10.1038/s41467-023-43041-4. Nat Commun. 2023. PMID: 38057330 Free PMC article.
EMBL's European Bioinformatics Institute (EMBL-EBI) in 2023.
Thakur M, Buniello A, Brooksbank C, Gurwitz KT, Hall M, Hartley M, Hulcoop DG, Leach AR, Marques D, Martin M, Mithani A, McDonagh EM, Mutasa-Gottgens E, Ochoa D, Perez-Riverol Y, Stephenson J, Varadi M, Velankar S, Vizcaino JA, Witham R, McEntyre J. Thakur M, et al. Among authors: stephenson j. Nucleic Acids Res. 2024 Jan 5;52(D1):D10-D17. doi: 10.1093/nar/gkad1088. Nucleic Acids Res. 2024. PMID: 38015445 Free PMC article. Review.
National Emergency Tele-Critical Care in a Pandemic: Barriers and Solutions.
Pamplin JC, Gray B, Quinn MT, Little JR, Colombo CJ, Subramanian S, Farmer JC, Ries M, Scott B; Governance Stakeholder Working Group and National Emergency Tele-Critical Care Network Team Participants. Pamplin JC, et al. Crit Care Explor. 2024 May 13;6(5):e1091. doi: 10.1097/CCE.0000000000001091. eCollection 2024 May. Crit Care Explor. 2024. PMID: 38746740 Free PMC article.
2,131 results