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Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
Hempel A, Pagnamenta AT, Blyth M, Mansour S, McConnell V, Kou I, Ikegawa S, Tsurusaki Y, Matsumoto N, Lo-Castro A, Plessis G, Albrecht B, Battaglia A, Taylor JC, Howard MF, Keays D, Sohal AS; DDD Collaboration; Kühl SJ, Kini U, McNeill A. Hempel A, et al. Among authors: howard mf. J Med Genet. 2016 Mar;53(3):152-62. doi: 10.1136/jmedgenet-2015-103393. Epub 2015 Nov 5. J Med Genet. 2016. PMID: 26543203 Free PMC article.
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight JC, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco-Echeverry G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AO, Bentley D, Donnelly P, McVean G. Taylor JC, et al. Among authors: howard m. Nat Genet. 2015 Jul;47(7):717-726. doi: 10.1038/ng.3304. Epub 2015 May 18. Nat Genet. 2015. PMID: 25985138 Free PMC article.
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
Pagnamenta AT, Murakami Y, Taylor JM, Anzilotti C, Howard MF, Miller V, Johnson DS, Tadros S, Mansour S, Temple IK, Firth R, Rosser E, Harrison RE, Kerr B, Popitsch N; DDD Study; Kinoshita T, Taylor JC, Kini U. Pagnamenta AT, et al. Among authors: howard mf. Eur J Hum Genet. 2017 Jun;25(6):669-679. doi: 10.1038/ejhg.2017.32. Epub 2017 Mar 22. Eur J Hum Genet. 2017. PMID: 28327575 Free PMC article.
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM. Howard MF, et al. Am J Hum Genet. 2014 Feb 6;94(2):278-87. doi: 10.1016/j.ajhg.2013.12.012. Epub 2014 Jan 16. Am J Hum Genet. 2014. PMID: 24439110 Free PMC article.
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF. Ilkovski B, et al. Among authors: howard mf. Hum Mol Genet. 2015 Nov 1;24(21):6146-59. doi: 10.1093/hmg/ddv331. Epub 2015 Aug 20. Hum Mol Genet. 2015. PMID: 26293662 Free PMC article.
2,774 results