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Page 1
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
Bone WP, Washington NL, Buske OJ, Adams DR, Davis J, Draper D, Flynn ED, Girdea M, Godfrey R, Golas G, Groden C, Jacobsen J, Köhler S, Lee EM, Links AE, Markello TC, Mungall CJ, Nehrebecky M, Robinson PN, Sincan M, Soldatos AG, Tifft CJ, Toro C, Trang H, Valkanas E, Vasilevsky N, Wahl C, Wolfe LA, Boerkoel CF, Brudno M, Haendel MA, Gahl WA, Smedley D. Bone WP, et al. Among authors: wolfe la. Genet Med. 2016 Jun;18(6):608-17. doi: 10.1038/gim.2015.137. Epub 2015 Nov 12. Genet Med. 2016. PMID: 26562225 Free PMC article.
Kearns-Sayre syndrome presenting as isolated growth failure.
Holloman CM, Wolfe LA, Gahl WA, Boerkoel CF. Holloman CM, et al. Among authors: wolfe la. BMJ Case Rep. 2013 Feb 18;2013:bcr2012007272. doi: 10.1136/bcr-2012-007272. BMJ Case Rep. 2013. PMID: 23420719 Free PMC article.
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, Traynelis SF, Kerr DS, Gahl WA. Adams DR, et al. Among authors: wolfe la. Mol Genet Metab. 2014 Nov;113(3):161-70. doi: 10.1016/j.ymgme.2014.04.001. Epub 2014 Apr 13. Mol Genet Metab. 2014. PMID: 24863970 Free PMC article.
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MCV, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, Gahl WA, Wolfe LA. Lam C, et al. Among authors: wolfe la. Mol Genet Metab. 2015 Jun-Jul;115(2-3):128-140. doi: 10.1016/j.ymgme.2015.04.007. Epub 2015 May 1. Mol Genet Metab. 2015. PMID: 25943031 Free PMC article.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC. Marchegiani S, et al. Among authors: wolfe la. Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25. Am J Hum Genet. 2015. PMID: 26119818 Free PMC article.
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bönnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK. Berko ER, et al. Among authors: wolfe la. J Med Genet. 2017 Feb;54(2):84-86. doi: 10.1136/jmedgenet-2016-103943. Epub 2016 Jul 7. J Med Genet. 2017. PMID: 27389779 Free PMC article.
240 results