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Page 1
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG. Lardelli RM, et al. Among authors: davies jh. Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16. Nat Genet. 2017. PMID: 28092684 Free PMC article.
Further defining the phenotypic spectrum of B4GALT7 mutations.
Salter CG, Davies JH, Moon RJ, Fairhurst J, Bunyan D; DDD Study; Foulds N. Salter CG, et al. Among authors: davies jh. Am J Med Genet A. 2016 Jun;170(6):1556-63. doi: 10.1002/ajmg.a.37604. Epub 2016 Mar 4. Am J Med Genet A. 2016. PMID: 26940150
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.
Turner CL, Mackay DM, Callaway JL, Docherty LE, Poole RL, Bullman H, Lever M, Castle BM, Kivuva EC, Turnpenny PD, Mehta SG, Mansour S, Wakeling EL, Mathew V, Madden J, Davies JH, Temple IK. Turner CL, et al. Among authors: davies jh. Eur J Hum Genet. 2010 Jun;18(6):648-55. doi: 10.1038/ejhg.2009.246. Epub 2010 Jan 27. Eur J Hum Genet. 2010. PMID: 20104244 Free PMC article.
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.
Lokulo-Sodipe O, Ballard L, Child J, Inskip HM, Byrne CD, Ishida M, Moore GE, Wakeling EL, Fenwick A, Mackay DJG, Davies JH, Temple IK. Lokulo-Sodipe O, et al. Among authors: davies jh. J Med Genet. 2020 Oct;57(10):683-691. doi: 10.1136/jmedgenet-2019-106561. Epub 2020 Feb 13. J Med Genet. 2020. PMID: 32054688 Free PMC article.
230 results