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CLOVES Syndrome.
Kanji A, Cobben J, Laguda B. Kanji A, et al. Among authors: cobben j. JAMA Dermatol. 2023 Jun 1;159(6):659-660. doi: 10.1001/jamadermatol.2022.6180. JAMA Dermatol. 2023. PMID: 37017999
An exemplary model of genetic counselling for highly specialised services.
Harris J, Bartlett M, Baker D, Berlin C, Bowen J, Cummings C, Fallows C, Green C, Griffin J, Julier K, Kammin T, Sehra R, Stacey C, Cobben J, Ghali N, Johnson D, Sobey G, van Dijk FS. Harris J, et al. Among authors: cobben j. J Community Genet. 2023 Apr;14(2):115-119. doi: 10.1007/s12687-023-00640-4. Epub 2023 Mar 9. J Community Genet. 2023. PMID: 36892793 Free PMC article. Review.
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.
Peter M, Mellis R, McInnes-Dean H, Daniel M, Walton H, Fisher J, Leeson-Beevers K, Allen S, Baple EL, Beleza-Meireles A, Bertoli M, Campbell J, Canham N, Cilliers D, Cobben J, Eason J, Harrison V, Holder-Espinasse M, Male A, Mansour S, McEwan A, Park SM, Smith A, Stewart A, Tapon D, Vasudevan P, Williams D, Wu WH, Chitty LS, Hill M. Peter M, et al. Among authors: cobben j. Front Genet. 2024 Jun 5;15:1401705. doi: 10.3389/fgene.2024.1401705. eCollection 2024. Front Genet. 2024. PMID: 38903755 Free PMC article.
Hypotension-Avoidance Versus Hypertension-Avoidance Strategies in Noncardiac Surgery : An International Randomized Controlled Trial.
Marcucci M, Painter TW, Conen D, Lomivorotov V, Sessler DI, Chan MTV, Borges FK, Leslie K, Duceppe E, Martínez-Zapata MJ, Wang CY, Xavier D, Ofori SN, Wang MK, Efremov S, Landoni G, Kleinlugtenbelt YV, Szczeklik W, Schmartz D, Garg AX, Short TG, Wittmann M, Meyhoff CS, Amir M, Torres D, Patel A, Ruetzler K, Parlow JL, Tandon V, Fleischmann E, Polanczyk CA, Lamy A, Jayaram R, Astrakov SV, Wu WKK, Cheong CC, Ayad S, Kirov M, de Nadal M, Likhvantsev VV, Paniagua P, Aguado HJ, Maheshwari K, Whitlock RP, McGillion MH, Vincent J, Copland I, Balasubramanian K, Biccard BM, Srinathan S, Ismoilov S, Pettit S, Stillo D, Kurz A, Belley-Côté EP, Spence J, McIntyre WF, Bangdiwala SI, Guyatt G, Yusuf S, Devereaux PJ; POISE-3 Trial Investigators and Study Groups. Marcucci M, et al. Ann Intern Med. 2023 May;176(5):605-614. doi: 10.7326/M22-3157. Epub 2023 Apr 25. Ann Intern Med. 2023. PMID: 37094336 Clinical Trial.
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.
SHORT syndrome with microcephaly and developmental delay.
Patel V, Cui W, Cobben JM. Patel V, et al. Among authors: cobben jm. Am J Med Genet A. 2023 Mar;191(3):850-854. doi: 10.1002/ajmg.a.63078. Epub 2022 Dec 14. Am J Med Genet A. 2023. PMID: 36515361 Review.
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Pérez-Dueñas B, Gorman K, Marcé-Grau A, Ortigoza-Escobar JD, Macaya A, Danti FR, Barwick K, Papandreou A, Ng J, Meyer E, Mohammad SS, Smith M, Muntoni F, Munot P, Uusimaa J, Vieira P, Sheridan E, Guerrini R, Cobben J, Yilmaz S, De Grandis E, Dale RC, Pons R, Peall KJ, Leuzzi V, Kurian MA. Pérez-Dueñas B, et al. Among authors: cobben j. Mov Disord. 2022 Nov;37(11):2197-2209. doi: 10.1002/mds.29182. Epub 2022 Aug 25. Mov Disord. 2022. PMID: 36054588 Free PMC article.
Sedaghatian spondylometaphyseal dysplasia in two siblings.
Peshimam N, Farah H, Caswell R, Ellard S, Jan W, Calder AD, Cobben J, Kariholu U, Leitch HG. Peshimam N, et al. Among authors: cobben j. Eur J Med Genet. 2022 Aug;65(8):104541. doi: 10.1016/j.ejmg.2022.104541. Epub 2022 Jun 16. Eur J Med Genet. 2022. PMID: 35718083 Free article.
151 results