genetics

  • The importance of genetic diagnosis for Duchenne muscular dystrophy
    Annemieke Aartsma-Rus, Ieke B Ginjaar, Kate Bushby
  • Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family
    Rafiullah Rafiullah, Muhammad Aslamkhan, Nagarajan Paramasivam, Christian Thiel, Ghulam Mustafa, Stefan Wiemann, Matthias Schlesner, Rebecca C Wade, Gudrun A Rappold, Simone Berkel
  • A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
    Megana K Prasad, Véronique Geoffroy, Serge Vicaire, Bernard Jost, Michael Dumas, Stéphanie Le Gras, Marzena Switala, Barbara Gasse, Virginie Laugel-Haushalter, Marie Paschaki, Bruno Leheup, Dominique Droz, Amelie Dalstein, Adeline Loing, Bruno Grollemund, Michèle Muller-Bolla, Séréna Lopez-Cazaux, Maryline Minoux, Sophie Jung, Frédéric Obry, Vincent Vogt, Jean-Luc Davideau, Tiphaine Davit-Beal, Anne-Sophie Kaiser, Ute Moog, Béatrice Richard, Jean-Jacques Morrier, Jean-Pierre Duprez, Sylvie Odent, Isabelle Bailleul-Forestier, Monique Marie Rousset, Laure Merametdijan, Annick Toutain, Clara Joseph, Fabienne Giuliano, Jean-Christophe Dahlet, Aymeric Courval, Mustapha El Alloussi, Samir Laouina, Sylvie Soskin, Nathalie Guffon, Anne Dieux, Bérénice Doray, Stephanie Feierabend, Emmanuelle Ginglinger, Benjamin Fournier, Muriel de la Dure Molla, Yves Alembik, Corinne Tardieu, François Clauss, Ariane Berdal, Corinne Stoetzel, Marie Cécile Manière, Hélène Dollfus, Agnès Bloch-Zupan
  • WGSA: an annotation pipeline for human genome sequencing studies
    Xiaoming Liu, Simon White, Bo Peng, Andrew D Johnson, Jennifer A Brody, Alexander H Li, Zhuoyi Huang, Andrew Carroll, Peng Wei, Richard Gibbs, Robert J Klein, Eric Boerwinkle
  • Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines
    Erin Conboy, Radhika Dhamija, Margaret Wang, Jing Xie, P James Dyck, Alina G Bridges, Robert J Spinner, Amy C Clayton, Robert E Watson, Ludwine Messiaen, Dusica Babovic-Vuksanovic
  • CRISPR-Cas9 for medical genetic screens: applications and future perspectives
    Hui-Ying Xue, Li-Juan Ji, Ai-Mei Gao, Ping Liu, Jing-Dong He, Xiao-Jie Lu
  • Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome
    Jennifer M Kalish, Kara E Boodhansingh, Tricia R Bhatti, Arupa Ganguly, Laura K Conlin, Susan A Becker, Stephanie Givler, Lindsey Mighion, Andrew A Palladino, N Scott Adzick, Diva D De León, Charles A Stanley, Matthew A Deardorff
  • High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome
    Leanne de Kock, Yu Chang Wang, Timothée Revil, Dunarel Badescu, Barbara Rivera, Nelly Sabbaghian, Mona Wu, Evan Weber, Claudio Sandoval, Saskia M J Hopman, Johannes H M Merks, Johanna M van Hagen, Antonia H M Bouts, David A Plager, Aparna Ramasubramanian, Linus Forsmark, Kristine L Doyle, Tonja Toler, Janine Callahan, Charlotte Engelenberg, Dorothée Bouron-Dal Soglio, John R Priest, Jiannis Ragoussis, William D Foulkes
  • MKS1 regulates ciliary INPP5E levels in Joubert syndrome
    Gisela G Slaats, Christine R Isabella, Hester Y Kroes, Jennifer C Dempsey, Hendrik Gremmels, Glen R Monroe, Ian G Phelps, Karen J Duran, Jonathan Adkins, Sairam A Kumar, Dana M Knutzen, Nine V Knoers, Nancy J Mendelsohn, David Neubauer, Sotiria D Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian A Glass, Melissa A Parisi, Edgar A Otto, Colin A Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H Giles, Dan Doherty
  • Genome-wide significant association with seven novel multiple sclerosis risk loci
    Christina M Lill, Felix Luessi, Antonio Alcina, Ekaterina A Sokolova, Nerea Ugidos, Belén de la Hera, Léna Guillot-Noël, Sunny Malhotra, Eva Reinthaler, Brit-Maren M Schjeide, Julia Y Mescheriakova, Andriy Mashychev, Inken Wohlers, Denis A Akkad, Orhan Aktas, Iraide Alloza, Alfredo Antigüedad, Rafa Arroyo, Ianire Astobiza, Paul Blaschke, Alexei N Boyko, Mathias Buttmann, Andrew Chan, Thomas Dörner, Joerg T Epplen, Olga O Favorova, Maria Fedetz, Oscar Fernández, Angel García-Martínez, Lisa-Ann Gerdes, Christiane Graetz, Hans-Peter Hartung, Sabine Hoffjan, Guillermo Izquierdo, Denis S Korobko, Antje Kroner, Christian Kubisch, Tania Kümpfel, Laura Leyva, Peter Lohse, Nadezhda A Malkova, Xavier Montalban, Ekaterina V Popova, Peter Rieckmann, Alexei S Rozhdestvenskii, Christiane Schmied, Inna V Smagina, Ekaterina Y Tsareva, Alexander Winkelmann, Uwe K Zettl, Harald Binder, Isabelle Cournu-Rebeix, Rogier Hintzen, Alexander Zimprich, Manuel Comabella, Bertrand Fontaine, Elena Urcelay, Koen Vandenbroeck, Maxim Filipenko, Fuencisla Matesanz, Frauke Zipp, Lars Bertram

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