Now showing items 1-4 of 4

    • Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 

      Tatton-Brown, K; Loveday, C; Yost, S; Clarke, M; Ramsay, E; Zachariou, A; Elliott, A; Wylie, H; Ardissone, A; Rittinger, O; Stewart, F; Temple, IK; Cole, T; Childhood Overgrowth Collaboration; Mahamdallie, S; Seal, S; Ruark, E; Rahman, N (2017-05)
      To explore the genetic architecture of human overgrowth syndromes and human growth control, we performed experimental and bioinformatic analyses of 710 individuals with overgrowth (height and/or head circumference ≥+2 SD) ...
    • Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. 

      Lee, Y-R; Khan, K; Armfield-Uhas, K; Srikanth, S; Thompson, NA; Pardo, M; Yu, L; Norris, JW; Peng, Y; Gripp, KW; Aleck, KA; Li, C; Spence, E; Choi, T-I; Kwon, SJ; Park, H-M; Yu, D; Do Heo, W; Mooney, MR; Baig, SM; Wentzensen, IM; Telegrafi, A; McWalter, K; Moreland, T; Roadhouse, C; Ramsey, K; Lyons, MJ; Skinner, C; Alexov, E; Katsanis, N; Stevenson, RE; Choudhary, JS; Adams, DJ; Kim, C-H; Davis, EE; Schwartz, CE (2020-07-23)
      Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome ...
    • De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. 

      Calpena, E; Hervieu, A; Kaserer, T; Swagemakers, SMA; Goos, JAC; Popoola, O; Ortiz-Ruiz, MJ; Barbaro-Dieber, T; Bownass, L; Brilstra, EH; Brimble, E; Foulds, N; Grebe, TA; Harder, AVE; Lees, MM; Monaghan, KG; Newbury-Ecob, RA; Ong, K-R; Osio, D; Reynoso Santos, FJ; Ruzhnikov, MRZ; Telegrafi, A; van Binsbergen, E; van Dooren, MF; Deciphering Developmental Disorders Study; van der Spek, PJ; Blagg, J; Twigg, SRF; Mathijssen, IMJ; Clarke, PA; Wilkie, AOM (2019-04)
      The Mediator is an evolutionarily conserved, multi-subunit complex that regulates multiple steps of transcription. Mediator activity is regulated by the reversible association of a four-subunit module comprising CDK8 or ...
    • De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. 

      Jansen, S; Geuer, S; Pfundt, R; Brough, R; Ghongane, P; Herkert, JC; Marco, EJ; Willemsen, MH; Kleefstra, T; Hannibal, M; Shieh, JT; Lynch, SA; Flinter, F; FitzPatrick, DR; Gardham, A; Bernhard, B; Ragge, N; Newbury-Ecob, R; Bernier, R; Kvarnung, M; Magnusson, EAH; Wessels, MW; van Slegtenhorst, MA; Monaghan, KG; de Vries, P; Veltman, JA; Deciphering Developmental Disorders Study; Lord, CJ; Vissers, LELM; de Vries, BBA (2017-04)
      Intellectual disability (ID) is a highly heterogeneous disorder involving at least 600 genes, yet a genetic diagnosis remains elusive in ∼35%-40% of individuals with moderate to severe ID. Recent meta-analyses statistically ...