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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B. Pottie L, et al. Among authors: newman wg. Am J Hum Genet. 2021 Jun 3;108(6):1095-1114. doi: 10.1016/j.ajhg.2021.04.016. Epub 2021 May 14. Am J Hum Genet. 2021. PMID: 33991472 Free PMC article.
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24.
Newman WG, Clayton-Smith J, Metcalfe K, Cole R, Tartaglia M, Brancati F, Morara S, Novelli A, Liu X, Siminovitch KA, Mundlos S, Tassabehji M, Black GC. Newman WG, et al. Am J Med Genet A. 2008 Dec 1;146A(23):3034-7. doi: 10.1002/ajmg.a.32564. Am J Med Genet A. 2008. PMID: 19006212
Mutations in HPSE2 cause urofacial syndrome.
Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG. Daly SB, et al. Among authors: newman wg. Am J Hum Genet. 2010 Jun 11;86(6):963-9. doi: 10.1016/j.ajhg.2010.05.006. Am J Hum Genet. 2010. PMID: 20560210 Free PMC article.
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG. Banka S, et al. Among authors: newman wg. Am J Hum Genet. 2011 Feb 11;88(2):216-25. doi: 10.1016/j.ajhg.2011.01.004. Am J Hum Genet. 2011. PMID: 21310276 Free PMC article.
LRIG2 mutations cause urofacial syndrome.
Stuart HM, Roberts NA, Burgu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson JE, Mermerkaya M, Silay MS, Lewis MA, Olondriz MB, Gener B, Beetz C, Varga RE, Gülpınar O, Süer E, Soygür T, Ozçakar ZB, Yalçınkaya F, Kavaz A, Bulum B, Gücük A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG. Stuart HM, et al. Among authors: newman wg. Am J Hum Genet. 2013 Feb 7;92(2):259-64. doi: 10.1016/j.ajhg.2012.12.002. Epub 2013 Jan 11. Am J Hum Genet. 2013. PMID: 23313374 Free PMC article.
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT; University of Washington Center for Mendelian Genomics; Black GC, Trump D, Davis JR, Ahmad W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG. Jenkinson EM, et al. Among authors: newman wg. Am J Hum Genet. 2013 Apr 4;92(4):605-13. doi: 10.1016/j.ajhg.2013.02.013. Epub 2013 Mar 28. Am J Hum Genet. 2013. PMID: 23541340 Free PMC article.
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.
Banka S, Cain SA, Carim S, Daly SB, Urquhart JE, Erdem G, Harris J, Bottomley M, Donnai D, Kerr B, Kingston H, Superti-Furga A, Unger S, Ennis H, Worthington J, Herrick AL, Merry CL, Yue WW, Kielty CM, Newman WG. Banka S, et al. Among authors: newman wg. Ann Rheum Dis. 2015 Jun;74(6):1249-56. doi: 10.1136/annrheumdis-2013-204309. Epub 2014 Jan 17. Ann Rheum Dis. 2015. PMID: 24442880
325 results