human genetics

  • 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
  • Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository
    Chloe Mighton, Amanda C Smith, Justin Mayers, Robert Tomaszewski, Sherryl Taylor, Stacey Hume, Ron Agatep, Elizabeth Spriggs, Harriet E Feilotter, Laura Semenuk, Henry Wong, Lorena Lazo de la Vega, Christian R Marshall, Michelle M Axford, Talia Silver, George S Charames, Vanessa Di Gioacchino, Nicholas Watkins, William D Foulkes, Marcos Clavier, Nancy Hamel, George Chong, Ryan E Lamont, Jillian Parboosingh, Aly Karsan, Ian Bosdet, Sean S Young, Tracy Tucker, Mohammad Reza Akbari, Marsha D Speevak, Andrea K Vaags, Matthew S Lebo, Jordan Lerner-Ellis
  • Analysis of 200 000 exome-sequenced UK Biobank subjects illustrates the contribution of rare genetic variants to hyperlipidaemia
    David Curtis
  • Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice
    Wensheng Liu, Xiaoli Wei, Xiaoyan Liu, Gaowen Chen, Xiaoya Zhang, Xiaomei Liang, Vladimir Isachenko, Yanwei Sha, Yifeng Wang
  • New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements
    Vanessa Luiza Romanelli Tavares, Sofia Ligia Guimarães-Ramos, Yan Zhou, Cibele Masotti, Suzana Ezquina, Danielle de Paula Moreira, Henk Buermans, Renato S Freitas, Johan T Den Dunnen, Stephen R F Twigg, Maria Rita Passos-Bueno
  • Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest
    Wei Zheng, Qian-Qian Sha, Huiling Hu, Fei Meng, Qinwei Zhou, Xueqin Chen, Shuoping Zhang, Yifan Gu, Xian Yan, Lei Zhao, Yurong Zong, Liang Hu, Fei Gong, Guangxiu Lu, Heng-Yu Fan, Ge Lin
  • Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease
    Angèle Tingaud-Sequeira, Aurélien Trimouille, Thomas Sagardoy, Didier Lacombe, Caroline Rooryck
  • BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
    Zeinab Fadaie, Laura Whelan, Adrian Dockery, Catherina H Z Li, L Ingeborgh van den Born, Carel B Hoyng, Christian Gilissen, Jordi Corominas, Charlie Rowlands, Roly Megaw, Anne K Lampe, Frans P M Cremers, Gwyneth Jane Farrar, Jamie M Ellingford, Paul F. Kenna, Susanne Roosing
  • Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s
    Bong Jik Kim, Hyoung Won Jeon, Woosung Jeon, Jin Hee Han, Jayoung Oh, Nayoung Yi, Min Young Kim, Minah Kim, Justin Namju Kim, Bo Hye Kim, Joon Young Hyon, Dongsup Kim, Ja-Won Koo, Doo-Yi Oh, Byung Yoon Choi
  • Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant
    Christopher Mark Watson, Lucy Jackson, Laura A Crinnion, David T Bonthron, Eamonn Sheridan

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