Now showing items 1-2 of 2

    • 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 ...