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intellectual disability

  • 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
  • De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
    Daphné Lehalle, Pierre Vabres, Arthur Sorlin, Tatjana Bierhals, Magali Avila, Virginie Carmignac, Martin Chevarin, Erin Torti, Yuichi Abe, Tobias Bartolomaeus, Jill Clayton-Smith, Benjamin Cogné, Ivon Cusco, Laurence Duplomb, Eveline De Bont, Yannis Duffourd, Floor Duijkers, Orly Elpeleg, Aviva Fattal, David Geneviève, Maria J Guillen Sacoto, Anne Guimier, David J Harris, Maja Hempel, Bertrand Isidor, Thibaud Jouan, Paul Kuentz, Eriko Koshimizu, Klaske Lichtenbelt, Valerie Loik Ramey, Miriam Maik, Sakoto Miyakate, Yoshiko Murakami, Laurent Pasquier, Helio Pedro, Laurie Simone, Krista Sondergaard-Schatz, Judith St-Onge, Julien Thevenon, Irene Valenzuela, Rami Abou Jamra, Koen van Gassen, Mieke M van Haelst, Silvana van Koningsbruggen, Edgard Verdura, Christa Whelan Habela, Pia Zacher, Jean-Baptiste Rivière, Christel Thauvin-Robinet, Joerg Betschinger, Laurence Faivre
    Journal of Medical Genetics Dec 2020, 57 (12) 808-819; DOI: 10.1136/jmedgenet-2019-106508
  • Gene discoveries in autism are biased towards comorbidity with intellectual disability
    Matthew Jensen, Corrine Smolen, Santhosh Girirajan
    Journal of Medical Genetics Sep 2020, 57 (9) 647-652; DOI: 10.1136/jmedgenet-2019-106476
  • Impacts of genomics on the health and social costs of intellectual disability
    Brett Doble, Deborah Schofield, Carey-Anne Evans, Tudor Groza, John S Mattick, Mike Field, Tony Roscioli
    Journal of Medical Genetics Jul 2020, 57 (7) 479-486; DOI: 10.1136/jmedgenet-2019-106445
  • A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features
    Isaac Marin-Valencia, Gaia Novarino, Anide Johansen, Basak Rosti, Mahmoud Y Issa, Damir Musaev, Gifty Bhat, Eric Scott, Jennifer L Silhavy, Valentina Stanley, Rasim O Rosti, Jeremy W Gleeson, Farhad B Imam, Maha S Zaki, Joseph G Gleeson
    Journal of Medical Genetics Jan 2018, 55 (1) 48-54; DOI: 10.1136/jmedgenet-2017-104627
  • FOXP1-related intellectual disability syndrome: a recognisable entity
    Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A Rouleau, Fadi F Hamdan, Jacques L Michaud, Jenny Morton, Jessica Radley, Nicola Ragge, Sixto García-Miñaúr, Pablo Lapunzina, Maria Palomares Bralo, Maria Ángeles Mori, Stéphanie Moortgat, Valérie Benoit, Sandrine Mary, Nele Bockaert, Ann Oostra, Olivier Vanakker, Milen Velinov, Thomy JL de Ravel, Djalila Mekahli, Jonathan Sebat, Keith K Vaux, Nataliya DiDonato, Andrea K Hanson-Kahn, Louanne Hudgins, Bruno Dallapiccola, Antonio Novelli, Luigi Tarani, Joris Andrieux, Michael J Parker, Katherine Neas, Berten Ceulemans, An-Sofie Schoonjans, Darina Prchalova, Marketa Havlovicova, Miroslava Hancarova, Magdalena Budisteanu, Annelies Dheedene, Björn Menten, Patrick A Dion, Damien Lederer, Bert Callewaert
    Journal of Medical Genetics Sep 2017, 54 (9) 613-623; DOI: 10.1136/jmedgenet-2017-104579
  • CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
    Hala Nasser, Liza Vera, Monique Elmaleh-Bergès, Katharina Steindl, Pascaline Letard, Natacha Teissier, Anais Ernault, Fabien Guimiot, Alexandra Afenjar, Marie Laure Moutard, Delphine Héron, Yves Alembik, Martha Momtchilova, Paolo Milani, Nathalie Kubis, Nathalie Pouvreau, Marcella Zollino, Sophie Guilmin Crepon, Florentia Kaguelidou, Pierre Gressens, Alain Verloes, Anita Rauch, Vincent El Ghouzzi, Severine Drunat, Sandrine Passemard
    Journal of Medical Genetics Jun 2020, 57 (6) 389-399; DOI: 10.1136/jmedgenet-2019-106474
  • The clinical relevance of intragenic NRXN1 deletions
    Nele Cosemans, Laura Vandenhove, Annick Vogels, Koenraad Devriendt, Hilde Van Esch, Griet Van Buggenhout, Hilde Olivié, Thomy de Ravel, Els Ortibus, Eric Legius, Peter Aerssens, Jeroen Breckpot, Joris R. Vermeesch, Sanbing Shen, Jacqueline Fitzgerald, Louise Gallagher, Hilde Peeters
    Journal of Medical Genetics May 2020, 57 (5) 347-355; DOI: 10.1136/jmedgenet-2019-106448
  • Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review
    Yaser Rafiq Mir, Raja Amir Hassan Kuchay
    Journal of Medical Genetics Sep 2019, 56 (9) 567-573; DOI: 10.1136/jmedgenet-2018-105821
  • Contribution of spurious transcription to intellectual disability disorders
    Marilyn Scandaglia, Angel Barco
    Journal of Medical Genetics Aug 2019, 56 (8) 491-498; DOI: 10.1136/jmedgenet-2018-105668

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