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Page 1
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis.
Kiss RS, Chicoine J, Khalil Y, Sladek R, Chen H, Pisaturo A, Martin C, Dale JD, Brudenell TA, Kamath A, Kyei-Boahen J, Hafiane A, Daliah G, Alecki C, Hopes TS, Heier M, Aligianis IA, Lebrun JJ, Aspden J, Paci E, Kerksiek A, Lütjohann D, Clayton P, Wills JC, von Kriegsheim A, Nilsson T, Sheridan E, Handley MT. Kiss RS, et al. Among authors: sheridan e. J Biol Chem. 2023 Nov;299(11):105295. doi: 10.1016/j.jbc.2023.105295. Epub 2023 Sep 28. J Biol Chem. 2023. PMID: 37774976 Free PMC article.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
Examining the role of common variants in rare neurodevelopmental conditions.
Huang QQ, Wigdor EM, Malawsky DS, Campbell P, Samocha KE, Chundru VK, Danecek P, Lindsay S, Marchant T, Koko M, Amanat S, Bonfanti D, Sheridan E, Radford EJ, Barrett JC, Wright CF, Firth HV, Warrier V, Strudwick Young A, Hurles ME, Martin HC. Huang QQ, et al. Among authors: sheridan e. Nature. 2024 Nov 20. doi: 10.1038/s41586-024-08217-y. Online ahead of print. Nature. 2024. PMID: 39567701
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.
Ellard S, Morgan S, Wynn SL, Walker S, Parrish A, Mein R, Juett A, Ahn JW, Berry I, Cassidy EJ, Durkie M, Fish L, Hall R, Howard E, Rankin J, Wright CF, Deans ZC, Scott RH, Hill SL, Baple EL, Taylor RW; Association for Clinical Genomic Science Rare Disease Position Statement Working Group. Ellard S, et al. J Med Genet. 2024 Nov 25;61(12):1103-1112. doi: 10.1136/jmg-2024-110228. J Med Genet. 2024. PMID: 39327040 Free article.
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.
Chundru VK, Zhang Z, Walter K, Lindsay SJ, Danecek P, Eberhardt RY, Gardner EJ, Malawsky DS, Wigdor EM, Torene R, Retterer K, Wright CF, Ólafsdóttir H, Guillen Sacoto MJ, Ayaz A, Akbeyaz IH, Türkdoğan D, Al Balushi AI, Bertoli-Avella A, Bauer P, Szenker-Ravi E, Reversade B, McWalter K, Sheridan E, Firth HV, Hurles ME, Samocha KE, Ustach VD, Martin HC. Chundru VK, et al. Among authors: sheridan e. Nat Genet. 2024 Oct;56(10):2046-2053. doi: 10.1038/s41588-024-01910-8. Epub 2024 Sep 23. Nat Genet. 2024. PMID: 39313616 Free PMC article.
Reported Barriers and Facilitators for Autistic Individuals, Persons with Other Intellectual and Developmental Disabilities, and Their Caregivers to Receive the COVID-19 Vaccine: A Pilot Study.
Resnikoff AW, Colantuono V, Wieckowski AT, Chernak E, Plumb J, Baynard M, Sheridan E, Robins DL. Resnikoff AW, et al. Among authors: sheridan e. J Autism Dev Disord. 2024 Aug 16. doi: 10.1007/s10803-024-06506-z. Online ahead of print. J Autism Dev Disord. 2024. PMID: 39150481
Timing of emergency medical services activations for falls.
Sheridan E, Wiseman JM, Quatman CE. Sheridan E, et al. Arch Gerontol Geriatr Plus. 2024 Jun;1(2):100020. doi: 10.1016/j.aggp.2024.100020. Epub 2024 Mar 29. Arch Gerontol Geriatr Plus. 2024. PMID: 39104783 Free PMC article.
Temperature dependence of the mutation rate towards antibiotic resistance.
Van Eldijk TJB, Sheridan EA, Martin G, Weissing FJ, Kuipers OP, Van Doorn GS. Van Eldijk TJB, et al. Among authors: sheridan ea. JAC Antimicrob Resist. 2024 Jun 6;6(3):dlae085. doi: 10.1093/jacamr/dlae085. eCollection 2024 Jun. JAC Antimicrob Resist. 2024. PMID: 38847007 Free PMC article.
Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice.
Tsoulaki O, Tischkowitz M, Antoniou AC, Musgrave H, Rea G, Gandhi A, Cox K, Irvine T, Holcombe S, Eccles D, Turnbull C, Cutress R; Meeting Attendees; Archer S, Hanson H. Tsoulaki O, et al. Br J Cancer. 2024 Jun;130(12):2027-2036. doi: 10.1038/s41416-024-02733-4. Epub 2024 Jun 4. Br J Cancer. 2024. PMID: 38834743 Free PMC article. Review.
326 results