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Page 1
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. Johnston JJ, et al. Among authors: shealy a. Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328. Hum Mutat. 2010. PMID: 20672375 Free PMC article.
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M. Sukalo M, et al. Among authors: shealy ag. Hum Mutat. 2014 May;35(5):521-31. doi: 10.1002/humu.22538. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24599544 Review.
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG. Lamb AN, et al. Among authors: shealy a. Hum Mutat. 2012 Apr;33(4):728-40. doi: 10.1002/humu.22037. Hum Mutat. 2012. PMID: 22290657 Free PMC article.
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
Wagnon JL, Barker BS, Hounshell JA, Haaxma CA, Shealy A, Moss T, Parikh S, Messer RD, Patel MK, Meisler MH. Wagnon JL, et al. Among authors: shealy a. Ann Clin Transl Neurol. 2015 Dec 21;3(2):114-23. doi: 10.1002/acn3.276. eCollection 2016 Feb. Ann Clin Transl Neurol. 2015. PMID: 26900580 Free PMC article.
Assessment of clinical workload for general and specialty genetic counsellors at an academic medical center: a tool for evaluating genetic counselling practices.
Heald B, Rybicki L, Clements D, Marquard J, Mester J, Noss R, Nardini M, Polk J, Psensky B, Rigelsky C, Schreiber A, Shealy A, Smith M, Eng C. Heald B, et al. Among authors: shealy a. NPJ Genom Med. 2016 May 11;1:16010. doi: 10.1038/npjgenmed.2016.10. eCollection 2016. NPJ Genom Med. 2016. PMID: 29263811 Free PMC article.
A randomized trial to compare smooth monofilament suture vs. barbed suture using the three-layer continuous closure technique in canine ovariohysterectomy in a high-quality high-volume spay/neuter clinic.
Shivley JM, Brookshire WC, Shealy AP, Seyer CA, Bushby PA, Woodruff KA. Shivley JM, et al. Among authors: shealy ap. Front Vet Sci. 2024 Apr 12;11:1365213. doi: 10.3389/fvets.2024.1365213. eCollection 2024. Front Vet Sci. 2024. PMID: 38681851 Free PMC article.
21 results