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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.
Towards near-term quantum simulation of materials.
Clinton L, Cubitt T, Flynn B, Gambetta FM, Klassen J, Montanaro A, Piddock S, Santos RA, Sheridan E. Clinton L, et al. Among authors: sheridan e. Nat Commun. 2024 Jan 24;15(1):211. doi: 10.1038/s41467-023-43479-6. Nat Commun. 2024. PMID: 38267424 Free PMC article.
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.
Harris EL, Roy V, Montagne M, Rose AMS, Livesey H, Reijnders MRF, Hobson E, Sansbury FH, Willemsen MH, Pfundt R, Warren D, Long V, Carr IM, Brunner HG, Sheridan EG, Firth HV, Lavigne P, Poulter JA. Harris EL, et al. Among authors: sheridan eg. Am J Hum Genet. 2024 Jan 4;111(1):119-132. doi: 10.1016/j.ajhg.2023.11.010. Epub 2023 Dec 22. Am J Hum Genet. 2024. PMID: 38141607 Free PMC article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Virtual teaching kitchen classes and cardiovascular disease prevention counselling among medical trainees.
Razavi AC, Latoff A, Dyer A, Albin JL, Artz K, Babcock A, Cimino F, Daghigh F, Dollinger B, Fiellin M, Johnston EA, Jones GM, Karch RD, Keller ET, Nace H, Parekh NK, Petrosky SN, Robinson A, Rosen J, Sheridan EM, Warner SW, Willis JL, Harlan TS. Razavi AC, et al. Among authors: sheridan em. BMJ Nutr Prev Health. 2023 Feb 2;6(1):6-13. doi: 10.1136/bmjnph-2022-000477. eCollection 2023. BMJ Nutr Prev Health. 2023. PMID: 37559965 Free PMC article.
The Reach and Accuracy of Information on Autism on TikTok.
Aragon-Guevara D, Castle G, Sheridan E, Vivanti G. Aragon-Guevara D, et al. Among authors: sheridan e. J Autism Dev Disord. 2023 Aug 6. doi: 10.1007/s10803-023-06084-6. Online ahead of print. J Autism Dev Disord. 2023. PMID: 37544970
316 results