Clinical genetics

  • The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
    Jean-Benoît Courcet, Laurence Faivre, Perrine Malzac, Alice Masurel-Paulet, Estelle Lopez, Patrick Callier, Laetitia Lambert, Martine Lemesle, Julien Thevenon, Nadège Gigot, Laurence Duplomb, Clémence Ragon, Nathalie Marle, Anne-Laure Mosca-Boidron, Frédéric Huet, Christophe Philippe, Anne Moncla, Christel Thauvin-Robinet
  • A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
    Haruo Shimazaki, Yoshihisa Takiyama, Hiroyuki Ishiura, Chika Sakai, Yuichi Matsushima, Hideyuki Hatakeyama, Junko Honda, Kumi Sakoe, Tametou Naoi, Michito Namekawa, Yoko Fukuda, Yuji Takahashi, Jun Goto, Shoji Tsuji, Yu-ichi Goto, Imaharu Nakano, and Japan Spastic Paraplegia Research Consortium (JASPAC)
  • Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events
    Weimin Bi, Frank J Probst, Joanna Wiszniewska, Katie Plunkett, Erin K Roney, Brian S Carter, Misti D Williams, Pawel Stankiewicz, Ankita Patel, Cathy A Stevens, James R Lupski, Sau Wai Cheung
  • Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome
    Audrey Putoux, Sheela Nampoothiri, Nicole Laurent, Valérie Cormier-Daire, Philip L Beales, Albert Schinzel, Deborah Bartholdi, Caroline Alby, Sophie Thomas, Nadia Elkhartoufi, Amale Ichkou, Julie Litzler, Arnold Munnich, Férechté Encha-Razavi, Rajesh Kannan, Laurence Faivre, Nathalie Boddaert, Anita Rauch, Michel Vekemans, Tania Attié-Bitach
  • Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations
    Marine Legendre, Marie Gonzales, Géraldine Goudefroye, Frédéric Bilan, Pauline Parisot, Marie-José Perez, Maryse Bonnière, Bettina Bessières, Jelena Martinovic, Anne-Lise Delezoide, Frédérique Jossic, Catherine Fallet-Bianco, Martine Bucourt, Julia Tantau, Philippe Loget, Laurence Loeuillet, Nicole Laurent, Brigitte Leroy, Houria Salhi, Nicole Bigi, Caroline Rouleau, Fabien Guimiot, Chloé Quélin, Anne Bazin, Caroline Alby, Amale Ichkou, Roselyne Gesny, Alain Kitzis, Yves Ville, Stanislas Lyonnet, Ferechte Razavi, Brigitte Gilbert-Dussardier, Michel Vekemans, Tania Attié-Bitach
  • A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm
    Tiia M Luukkonen, Minna Pöyhönen, Aarno Palotie, Pekka Ellonen, Sonja Lagström, Joseph H Lee, Joseph D Terwilliger, Riitta Salonen, Teppo Varilo
  • Mutations in TMEM231 cause Joubert syndrome in French Canadians
    Myriam Srour, Fadi F Hamdan, Jeremy A Schwartzentruber, Lysanne Patry, Luis H Ospina, Michael I Shevell, Valérie Désilets, Sylvia Dobrzeniecka, Géraldine Mathonnet, Emmanuelle Lemyre, Christine Massicotte, Damian Labuda, Dina Amrom, Eva Andermann, Guillaume Sébire, Bruno Maranda, FORGE Canada Consortium, Guy A Rouleau, Jacek Majewski, Jacques L Michaud
  • Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
    Marta Futema, Vincent Plagnol, Ros A Whittall, H Andrew W Neil, Steve Eric Humphries
  • A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
    Flore Zufferey, Elliott H Sherr, Noam D Beckmann, Ellen Hanson, Anne M Maillard, Loyse Hippolyte, Aurélien Macé, Carina Ferrari, Zoltán Kutalik, Joris Andrieux, Elizabeth Aylward, Mandy Barker, Raphael Bernier, Sonia Bouquillon, Philippe Conus, Bruno Delobel, W Andrew Faucett, Robin P Goin-Kochel, Ellen Grant, Louise Harewood, Jill V Hunter, Sébastien Lebon, David H Ledbetter, Christa Lese Martin, Katrin Männik, Danielle Martinet, Pratik Mukherjee, Melissa B Ramocki, Sarah J Spence, Kyle J Steinman, Jennifer Tjernagel, John E Spiro, Alexandre Reymond, Jacques S Beckmann, Wendy K Chung, Sébastien Jacquemont, on behalf of the Simons VIP Consortium, on behalf of the 16p11.2 European Consortium
  • Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
    Polona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, Heather B Steele-Stallard, John Ambrose, Alison Coffey, Jenny Emmerson, Elene Haralambous, Yasmin Hughes, Karen P Steel, Linda M Luxon, Andrew R Webster, Maria Bitner-Glindzicz

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