Genetics

  • 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
  • Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum
    Mateja Smogavec, Alison Cleall, Juliane Hoyer, Damien Lederer, Marie-Cécile Nassogne, Elizabeth E Palmer, Marie Deprez, Valérie Benoit, Isabelle Maystadt, Charlotte Noakes, Alejandro Leal, Marie Shaw, Jozef Gecz, Lucy Raymond, André Reis, Deborah Shears, Knut Brockmann, Christiane Zweier
  • Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations
    Laetitia Goffinet, Abderrahim Oussalah, Rosa-Maria Guéant-Rodriguez, Céline Chery, Mirta Basha, Patrice Hodonou Avogbe, Thomas Josse, Elise Jeannesson, Pierre Rouyer, Justine Flayac, Philippe Gerard, Anne Le Touze, Béatrice Bonin-Goga, Dominique Goga, Etienne Simon, François Feillet, Miikka Vikkula, Jean-Louis Guéant
  • Meta-analysis of genome-wide association studies of HDL cholesterol response to statins
    Iris Postmus, Helen R Warren, Stella Trompet, Benoit J Arsenault, Christy L Avery, Joshua C Bis, Daniel I Chasman, Catherine E de Keyser, Harshal A Deshmukh, Daniel S Evans, QiPing Feng, Xiaohui Li, Roelof A J Smit, Albert V Smith, Fangui Sun, Kent D Taylor, Alice M Arnold, Michael R Barnes, Bryan J Barratt, John Betteridge, S Matthijs Boekholdt, Eric Boerwinkle, Brendan M Buckley, Y-D Ida Chen, Anton J M de Craen, Steven R Cummings, Joshua C Denny, Marie Pierre Dubé, Paul N Durrington, Gudny Eiriksdottir, Ian Ford, Xiuqing Guo, Tamara B Harris, Susan R Heckbert, Albert Hofman, G Kees Hovingh, John J P Kastelein, Leonore J Launer, Ching-Ti Liu, Yongmei Liu, Thomas Lumley, Paul M McKeigue, Patricia B Munroe, Andrew Neil, Deborah A Nickerson, Fredrik Nyberg, Eoin O'Brien, Christopher J O'Donnell, Wendy Post, Neil Poulter, Ramachandran S Vasan, Kenneth Rice, Stephen S Rich, Fernando Rivadeneira, Naveed Sattar, Peter Sever, Sue Shaw-Hawkins, Denis C Shields, P Eline Slagboom, Nicholas L Smith, Joshua D Smith, Nona Sotoodehnia, Alice Stanton, David J Stott, Bruno H Stricker, Til Stürmer, André G Uitterlinden, Wei-Qi Wei, Rudi G J Westendorp, Eric A Whitsel, Kerri L Wiggins, Russell A Wilke, Christie M Ballantyne, Helen M Colhoun, L Adrienne Cupples, Oscar H Franco, Vilmundur Gudnason, Graham Hitman, Colin N A Palmer, Bruce M Psaty, Paul M Ridker, Jeanette M Stafford, Charles M Stein, Jean-Claude Tardif, Mark J Caulfield, J Wouter Jukema, Jerome I Rotter, Ronald M Krauss
  • COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency
    Anabel Martinez Lyons, Anna Ardissone, Aurelio Reyes, Alan J Robinson, Isabella Moroni, Daniele Ghezzi, Erika Fernandez-Vizarra, Massimo Zeviani
  • De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
    Iris M de Lange, Katherine L Helbig, Sarah Weckhuysen, Rikke S Møller, Milen Velinov, Natalia Dolzhanskaya, Eric Marsh, Ingo Helbig, Orrin Devinsky, Sha Tang, Heather C Mefford, Candace T Myers, Wim van Paesschen, Pasquale Striano, Koen van Gassen, Marjan van Kempen, Carolien G F de Kovel, Juliette Piard, Berge A Minassian, Marjan M Nezarati, André Pessoa, Aurelia Jacquette, Bridget Maher, Simona Balestrini, Sanjay Sisodiya, Marie Therese Abi Warde, Anne De St Martin, Jamel Chelly, EuroEPINOMICS-RES MAE working group, Ruben van ‘t Slot, Lionel Van Maldergem, Eva H Brilstra, Bobby P C Koeleman
  • An interstitial deletion within 9p21.3 and extending beyond CDKN2A predisposes to melanoma, neural system tumours and possible haematological malignancies
    Maria J Baker, Alisa M Goldstein, Patricia L Gordon, Kimberly S Harbaugh, Heath B Mackley, Michael J Glantz, Joseph J Drabick
  • Germline RRAS2 mutations are not associated with Noonan syndrome
    John J Ceremsak, Ariel Yu, Emilio Esquivel, Christina Lissewski, Martin Zenker, Mignon L Loh, Elliot Stieglitz
  • New insights in the molecular signature of advanced medullary thyroid cancer: evidence of a bad outcome of cases with double RET mutations
    Cristina Romei, Francesca Casella, Alessia Tacito, Valeria Bottici, Laura Valerio, David Viola, Virginia Cappagli, Antonio Matrone, Raffaele Ciampi, Paolo Piaggi, Clara Ugolini, Liborio Torregrossa, Fulvio Basolo, Gabriele Materazzi, Paolo Vitti, Rossella Elisei
  • Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly
    Reuben J Pengelly, Stephanie Greville-Heygate, Susanne Schmidt, Eleanor G Seaby, M Reza Jabalameli, Sarju G Mehta, Michael J Parker, David Goudie, Christine Fagotto-Kaufmann, Catherine Mercer, the DDD Study, Anne Debant, Sarah Ennis, Diana Baralle

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