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Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium; Lin YY, Muntoni F. Carss KJ, et al. Among authors: cirak s. Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13. Am J Hum Genet. 2013. PMID: 23768512 Free PMC article.
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nürnberg P; UK10K Consortium; Michele DE, Plagnol V, Hurles M, Moore SA, Sewry CA, Campbell KP, Voit T, Muntoni F. Cirak S, et al. Brain. 2013 Jan;136(Pt 1):269-81. doi: 10.1093/brain/aws312. Epub 2013 Jan 3. Brain. 2013. PMID: 23288328 Free PMC article.
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC; UK10K Consortium; Stemple D, Lin YY, Muntoni F. Stevens E, et al. Among authors: cirak s. Am J Hum Genet. 2013 Mar 7;92(3):354-65. doi: 10.1016/j.ajhg.2013.01.016. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453667 Free PMC article.
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP. Willer T, et al. Among authors: cirak s. Nat Genet. 2012 May;44(5):575-80. doi: 10.1038/ng.2252. Nat Genet. 2012. PMID: 22522420 Free PMC article.
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Hendricks AE, Bochukova EG, Marenne G, Keogh JM, Atanassova N, Bounds R, Wheeler E, Mistry V, Henning E, Körner A, Muddyman D, McCarthy S, Hinney A, Hebebrand J, Scott RA, Langenberg C, Wareham NJ, Surendran P, Howson JM, Butterworth AS, Danesh J, Nordestgaard BG, Nielsen SF, Afzal S, Papadia S, Ashford S, Garg S, Millhauser GL, Palomino RI, Kwasniewska A, Tachmazidou I, O'Rahilly S, Zeggini E, Barroso I, Farooqi IS; Understanding Society Scientific Group; EPIC-CVD Consortium; UK10K Consortium. Hendricks AE, et al. Sci Rep. 2017 Jun 29;7(1):4394. doi: 10.1038/s41598-017-03054-8. Sci Rep. 2017. PMID: 28663568 Free PMC article.
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Haworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C, Rivadeneira F, Wang C, Ahluwalia TS, Vrijheid M, Guxens M, Sunyer J, Tachmazidou I, Walter K, Iotchkova V, Jackson A, Cleal L, Huffmann J, Min JL, Sass L, Timmers PRHJ; UK10K consortium; Davey Smith G, Fisher SE, Wilson JF, Cole TJ, Fernandez-Orth D, Bønnelykke K, Bisgaard H, Pennell CE, Jaddoe VWV, Dedoussis G, Timpson N, Zeggini E, Vitart V, St Pourcain B. Haworth S, et al. Nat Commun. 2019 Jan 21;10(1):357. doi: 10.1038/s41467-018-07863-x. Nat Commun. 2019. PMID: 30664637 Free PMC article.
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.
Pitceathly RD, Taanman JW, Rahman S, Meunier B, Sadowski M, Cirak S, Hargreaves I, Land JM, Nanji T, Polke JM, Woodward CE, Sweeney MG, Solanki S, Foley AR, Hurles ME, Stalker J, Blake J, Holton JL, Phadke R, Muntoni F, Reilly MM, Hanna MG; UK10K Consortium. Pitceathly RD, et al. Among authors: cirak s. JAMA Neurol. 2013 Dec;70(12):1556-61. doi: 10.1001/jamaneurol.2013.3242. JAMA Neurol. 2013. PMID: 24100867
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