Browsing by Author "Banka, Siddharth"

Now showing items 1-3 of 3

    • A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population 
      Faundes, Víctor; Malone, Geraldine; Newman, William G.; Banka, Siddharth (Nature Publishing Group, 2019)
      Determining the clinical significance of germline and somatic KMT2D missense variants (MVs) in Kabuki syndrome (KS) and cancers can be challenging. We analysed 1920 distinct KMT2D MVs that included 1535 germline MVs in ...
    • Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants ... 
      Faúndes Gómez, Víctor Manuel; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T.; Bradley, Lisa; Brady, Angela F.; Brischoux Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, María Lisa; Digilio, María Cristina; Elmslie, Frances; Fry, Andrew E.; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; Lachlan, Katherine; Lebel, Robert Roger; Byler, Melissa; Gershon, Eric; Lemire, Edmond; Gnazzo, María; Lepri, Francesca Romana; Marchese, Antonia; McEntagart, Meriel; McGaughran, Julie; Mizuno, Seiji; Okamoto, Nobuhiko; Rieubland, Claudine; Rodgers, Jonathan; Sasaki, Erina; Scalais, Emmanuel; Scurr, Ingrid; Suri, Mohnish; van der Burgt, Ineke; Matsumoto, Naomichi; Miyake, Noriko; Benoit, Valérie; Lederer, Damien; Banka, Siddharth (Nature, 2021)
      PURPOSE: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood. METHODS: Genetic and clinical details of new and published individuals with pathogenic KDM6A variants were ...
    • Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine 
      Faúndes Gómez, Víctor Manuel; Jennings, Martin D.; Crilly, Siobhan; Legraie, Sarah; Withers, Sarah E.; Cuvertino, Sara; Davies, Sally J.; Douglas L., Andrew G.; Fry, Andrew E.; Harrison, Victoria; Amiel, Jeanne; Lehalle, Daphné; Newman, William G.; Newkirk, Patricia; Ranells, Judith; Splitt, Miranda; Cross, Laura A.; Saunders, Carol J.; Sullivan, Bonnie R.; Granadillo, Jorge L.; Gordon, Christopher T.; Kasher, Paul R.; Pavitt, Graham D.; Banka, Siddharth (Nature, 2021)
      The structure of proline prevents it from adopting an optimal position for rapid protein synthesis. Poly-proline-tract (PPT) associated ribosomal stalling is resolved by highly conserved eIF5A, the only protein to contain ...