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Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
McInerney-Leo AM, Marshall MS, Gardiner B, Coucke PJ, Van Laer L, Loeys BL, Summers KM, Symoens S, West JA, West MJ, Paul Wordsworth B, Zankl A, Leo PJ, Brown MA, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Bonekey Rep. 2013 Dec 4;2:456. doi: 10.1038/bonekey.2013.190. eCollection 2013. Bonekey Rep. 2013. PMID: 24501682 Free PMC article.
Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?
Seabrook AJ, Harris JE, Velosa SB, Kim E, McInerney-Leo AM, Dwight T, Hockings JI, Hockings NG, Kirk J, Leo PJ, Love AJ, Luxford C, Marshall M, Mete O, Pennisi DJ, Brown MA, Gill AJ, Hockings GI, Clifton-Bligh RJ, Duncan EL. Seabrook AJ, et al. Among authors: leo pj. J Clin Endocrinol Metab. 2021 Mar 25;106(4):1163-1182. doi: 10.1210/clinem/dgaa957. J Clin Endocrinol Metab. 2021. PMID: 33367756
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
McInerney-Leo AM, Schmidts M, Cortés CR, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M; UK10K Consortium; Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C. McInerney-Leo AM, et al. Among authors: leo pj. Am J Hum Genet. 2013 Sep 5;93(3):515-23. doi: 10.1016/j.ajhg.2013.06.022. Epub 2013 Aug 1. Am J Hum Genet. 2013. PMID: 23910462 Free PMC article.
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
McInerney-Leo AM, Harris JE, Gattas M, Peach EE, Sinnott S, Dudding-Byth T, Rajagopalan S, Barnett CP, Anderson LK, Wheeler L, Brown MA, Leo PJ, Wicking C, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Hum Mutat. 2016 Jul;37(7):695-702. doi: 10.1002/humu.22994. Epub 2016 May 6. Hum Mutat. 2016. PMID: 27038415
Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort.
Johnson SR, Ellis JJ, Leo PJ, Anderson LK, Ganti U, Harris JE, Curran JA, McInerney-Leo AM, Paramalingam N, Song X, Conwell LS, Harris M, Jones TW, Brown MA, Davis EA, Duncan EL. Johnson SR, et al. Among authors: leo pj. Pediatr Diabetes. 2019 Feb;20(1):57-64. doi: 10.1111/pedi.12766. Epub 2018 Nov 14. Pediatr Diabetes. 2019. PMID: 30191644
88 results