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Developmental Delay

  • Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
    Natalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, Jonathan Gadian, Brian HY Chung, Marcus CY Chan, Jasmine LF Fung, Edwin Cook, Stephen Guter, Felix Boschann, Andre Heinen, Jens Schallner, Cyril Mignot, Boris Keren, Sandra Whalen, Catherine Sarret, Dana Mittag, Laurie Demmer, Rachel Stapleton, Ken Saida, Naomichi Matsumoto, Noriko Miyake, Ruth Sheffer, Hagar Mor-Shaked, Christopher P Barnett, Alicia B Byrne, Hamish S Scott, Alison Kraus, Gerarda Cappuccio, Nicola Brunetti-Pierri, Raffaele Iorio, Fabiola Di Dato, Lynn S Pais, Alison Yeung, Tiong Y Tan, Jenny C Taylor, John Christodoulou, Susan M White
    Journal of Medical Genetics May 2022, 59 (5) 511-516; DOI: 10.1136/jmedgenet-2020-107462
  • Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
    Jorge Luis Granadillo, Alexander P.A. Stegmann, Hui Guo, Kun Xia, Brad Angle, Kelly Bontempo, Judith D Ranells, Patricia Newkirk, Carrie Costin, Joleen Viront, Constanze T Stumpel, Margje Sinnema, Bianca Panis, Rolph Pfundt, Ingrid P C Krapels, Merel Klaassens, Joost Nicolai, Jinliang Li, Yuwu Jiang, Elysa Marco, Ana Canton, Ana Claudia Latronico, Luciana Montenegro, Bruno Leheup, Celine Bonnet, Shivarajan M. Amudhavalli, Caitlin E Lawson, Kirsty McWalter, Aida Telegrafi, Richard Pearson, Malin Kvarnung, Xia Wang, Weimin Bi, Jill Anne Rosenfeld, Marwan Shinawi
    Journal of Medical Genetics Oct 2020, 57 (10) 717-724; DOI: 10.1136/jmedgenet-2019-106470
  • ATR-16 syndrome: mechanisms linking monosomy to phenotype
    Christian Babbs, Jill Brown, Sharon W Horsley, Joanne Slater, Evie Maifoshie, Shiwangini Kumar, Paul Ooijevaar, Marjolein Kriek, Amanda Dixon-McIver, Cornelis L Harteveld, Jan Traeger-Synodinos, Andrew O M Wilkie, Douglas R Higgs, Veronica J Buckle
    Journal of Medical Genetics Jun 2020, 57 (6) 414-421; DOI: 10.1136/jmedgenet-2019-106528
  • FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum
    Miriam S Reuter, Angelika Riess, Ute Moog, Tracy A Briggs, Kate E Chandler, Anita Rauch, Miriam Stampfer, Katharina Steindl, Dieter Gläser, Pascal Joset, DDD Study, Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Peter Bauer, Stefanie Beck-Wödl, Jürgen Kohlhase, André Reis, Christiane Zweier
    Journal of Medical Genetics Jan 2017, 54 (1) 64-72; DOI: 10.1136/jmedgenet-2016-104094
  • Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay
    Hussein Daoud, Dong Zhang, Fiona McMurray, Andrea Yu, Stephanie M Luco, Jason Vanstone, Olga Jarinova, Nancy Carson, James Wickens, Shifali Shishodia, Hwanho Choi, Michael A McDonough, Christopher J Schofield, Mary-Ellen Harper, David A Dyment, Christine M Armour
    Journal of Medical Genetics Mar 2016, 53 (3) 200-207; DOI: 10.1136/jmedgenet-2015-103399