Browsing by Author "Gill, Harinder"

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    • 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 ...
    • Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders 
      Faundes, Víctor; Newman, William G.; Bernardini, Laura; Canham, Natalie; Clayton-Smith, Jill; Dallapiccola, Bruno; Davies, Sally J.; Demos, Michelle K.; Goldman, Amy; Gill, Harinder; Horton, Rachel; Kerr, Bronwyn; Kumar, Dhavendra; Lehman, Anna; McKee, Shane; Morton, Jenny; Parker, Michael J.; Rankin, Julia; Robertson, Lisa; Temple, Karen (Cell Press, 2018)
      Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are frequently encountered in individuals with ...