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  • Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach
    Sunayna Best, Jing Yu, Jenny Lord, Matthew Roche, Christopher Mark Watson, Roel P J Bevers, Alex Stuckey, Savita Madhusudhan, Rosalyn Jewell, Sanjay M Sisodiya, Siying Lin, Stephen Turner, Hannah Robinson, Joseph S Leslie, Emma Baple, Genomics England Research Consortium, Carmel Toomes, Chris Inglehearn, Gabrielle Wheway, Colin A Johnson
    Journal of Medical Genetics Jun 2022, jmedgenet-2022-108476; DOI: 10.1136/jmedgenet-2022-108476
  • Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing
    Yusuke Sano, Yoshito Koyanagi, Jing Hao Wong, Yusuke Murakami, Kohta Fujiwara, Mikiko Endo, Tomomi Aoi, Kazuki Hashimoto, Toru Nakazawa, Yuko Wada, Shinji Ueno, Dan Gao, Akira Murakami, Yoshihiro Hotta, Yasuhiro Ikeda, Koji M Nishiguchi, Yukihide Momozawa, Koh-Hei Sonoda, Masato Akiyama, Akihiro Fujimoto
    Journal of Medical Genetics Jun 2022, jmedgenet-2022-108428; DOI: 10.1136/jmedgenet-2022-108428
  • The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness
    David Hessl, Hilary Rosselot, Robert Miller, Glenda Espinal, Jessica Famula, Stephanie L Sherman, Peter K Todd, Ana Maria Cabal Herrera, Karen Lipworth, Jonathan Cohen, Deborah A Hall, Maureen Leehey, Jim Grigsby, Jayne Dixon Weber, Sundus Alusi, Anne Wheeler, Melissa Raspa, Tamaro Hudson, Sonya K Sobrian
    Journal of Medical Genetics Jun 2022, jmedgenet-2022-108568; DOI: 10.1136/jmedgenet-2022-108568
  • Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state
    Gökhan Yigit, Ruth Sheffer, Muhannad Daana, Yun Li, Emrah Kaygusuz, Hagar Mor-Shakad, Janine Altmüller, Peter Nürnberg, Liza Douiev, Silke Kaulfuss, Peter Burfeind, Bernd Wollnik, Knut Brockmann
    Journal of Medical Genetics Jun 2022, 59 (6) 549-553; DOI: 10.1136/jmedgenet-2021-107769
  • Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
    Annie Laquerriere, Dana Jaber, Emanuela Abiusi, Jérome Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loic Quevarec, Flora Nolent, Valerie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloes, Bettina Bessieres, Laurence Loeuillet, Tania Attie-Bitach, Jelena Martinovic, Sophie Blesson, Florence Petit, Claire Beneteau, Sandra Whalen, Florent Marguet, Jerome Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Faivre, Pierre-Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne-Lise Delezoide, Alice Goldenberg, Marie-Line Jacquemont, Laetitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Munnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, Pierre Landrieu, Pascaline Letard, Fanny Pelluard, Laurence Perrin, Marie-Hélène Saint-Frison, Haluk Topaloglu, Laetitia Trestard, Catherine Vincent-Delorme, Helge Amthor, Christine Barnerias, Alexandra Benachi, Eric Bieth, Elise Boucher, Valerie Cormier-Daire, Andrée Delahaye-Duriez, Isabelle Desguerre, Bruno Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin-Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quélin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Helene Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet-Bianco, Michèle Granier, Romulus Grigorescu, Julien Saada, Marie Gonzales, Anne Guiochon-Mantel, Jean-Louis Bessereau, Marcel Tawk, Ivo Gut, Cyril Gitiaux, Judith Melki
    Journal of Medical Genetics Jun 2022, 59 (6) 559-567; DOI: 10.1136/jmedgenet-2020-107595
  • Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability
    Ethiraj Ravindran, Cynthia Gutierrez de Velazco, Ali Ghazanfar, Nadine Kraemer, Sami Zaqout, Abdul Waheed, Mohsan Hanif, Sadia Mughal, Alessandro Prigione, Na Li, Xiang Fang, Hao Hu, Angela M Kaindl
    Journal of Medical Genetics May 2022, 59 (5) 453-461; DOI: 10.1136/jmedgenet-2020-107518
  • Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore
    Pei Sze Ng, Rick ACM Boonen, Eldarina Wijaya, Chan Eng Chong, Milan Sharma, Sabine Knaup, Shivaani Mariapun, Weang Kee Ho, Joanna Lim, Sook-Yee Yoon, Nur Aishah Mohd Taib, Mee Hoong See, Jingmei Li, Swee Ho Lim, Ern Yu Tan, Benita Kiat-Tee Tan, Su-Ming Tan, Veronique Kiat-Mien Tan, Rob Martinus van Dam, Kartini Rahmat, Cheng Har Yip, Sara Carvalho, Craig Luccarini, Caroline Baynes, Alison M Dunning, Antonis Antoniou, Haico van Attikum, Douglas F Easton, Mikael Hartman, Soo Hwang Teo
    Journal of Medical Genetics May 2022, 59 (5) 481-491; DOI: 10.1136/jmedgenet-2020-107471
  • GLRA2 gene mutations cause high myopia in humans and mice
    Qi Tian, Ping Tong, Gong Chen, Meichun Deng, Tian'e Cai, Runyi Tian, Zimin Zhang, Kun Xia, Zhengmao Hu
    Journal of Medical Genetics Apr 2022, jmedgenet-2022-108425; DOI: 10.1136/jmedgenet-2022-108425
  • Practice guidelines for BRCA1/2 tumour testing in ovarian cancer
    Daria Grafodatskaya, Darren D O’Rielly, Karine Bedard, Darci T Butcher, Christopher J Howlett, Alice Lytwyn, Elizabeth McCready, Jillian Parboosingh, Elizabeth L Spriggs, Andrea K Vaags, Tracy L Stockley
    Journal of Medical Genetics Apr 2022, jmedgenet-2021-108238; DOI: 10.1136/jmedgenet-2021-108238
  • Identifying the psychosocial predictors of ultraviolet exposure to the face in patients with xeroderma pigmentosum: a study of the behavioural factors affecting clinical outcomes in this genetic disease
    Robert Sarkany, Sam Norton, Martha Canfield, Myfanwy Morgan, Lesley Foster, Kirby Sainsbury, Vera Araujo-Soares, Hans Christian Wulf, John Weinman, Jessica Walburn
    Journal of Medical Genetics Apr 2022, jmedgenet-2021-108323; DOI: 10.1136/jmedgenet-2021-108323

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