Exome Sequencing

  • Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
    Martin Chevarin, Yannis Duffourd, Rebecca A. Barnard, Sébastien Moutton, François Lecoquierre, Fatma Daoud, Paul Kuentz, Caroline Cabret, Julien Thevenon, Elodie Gautier, Patrick Callier, Judith St-Onge, Thibaud Jouan, Didier Lacombe, Marie Ange Delrue, Cyril Goizet, Fanny Morice-Picard, Julien Van-Gils, Arnold Munnich, Stanislas Lyonnet, Valérie Cormier-Daire, Geneviève Baujat, Muriel Holder, Florence Petit, Bruno Leheup, Sylvie Odent, Pierre-Simon Jouk, Gipsy Lopez, David Geneviève, Patrick Collignon, Dominique Martin-Coignard, Aurélia Jacquette, Laurence Perrin, Audrey Putoux, Elisabeth Sarrazin, Khadija Amarof, Isabelle Missotte, Christine Coubes, Sujatha Jagadeesh, Elisabetta Lapi, Florence Demurger, Alice Goldenberg, Martine Doco-Fenzy, Cyril Mignot, Delphine Héron, Nolwenn Jean-Marçais, Alice Masurel, Salima El Chehadeh, Nathalie Marle, Frédéric Huet, Christine Binquet, Gwenaëlle Collod-Beroud, Pauline Arnaud, Nadine Hanna, Catherine Boileau, Guillaume Jondeau, Robert Olaso, Doris Lechner, Charlotte Poe, Mirna Assoum, Virginie Carmignac, Laurence Duplomb, Frédéric Tran Mau-Them, Christophe Philippe, Antonio Vitobello, Ange-Line Bruel, Anne Boland, Jean-François Deleuze, Christel Thauvin-Robinet, Jean-Baptiste Rivière, Brian J O'Roak, Laurence Faivre
  • Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis
    Heng Jiang, Shulun Liang, Kai He, Jinghua Hu, Enjie Xu, Tao Lin, Yichen Meng, Jianquan Zhao, Jun Ma, Rui Gao, Ce Wang, Fu Yang, Xuhui Zhou
  • De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features
    Julien Buratti, Lei Ji, Boris Keren, Youngha Lee, Stephanie Booke, Serkan Erdin, Soo Yeon Kim, Timothy Blake Palculict, Vardiella Meiner, Jong Hee Chae, Christopher Geoffrey Woods, Allison Tam, Delphine Héron, Feng Cong, Tamar Harel
  • Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice
    Weiyu Li, Huan Wu, Fuping Li, Shixiong Tian, Zine-Eddine Kherraf, Jintao Zhang, Xiaoqing Ni, Mingrong Lv, Chunyu Liu, Qing Tan, Ying Shen, Amir Amiri-Yekta, Caroline Cazin, Jingjing Zhang, Wangjie Liu, Yan Zheng, Huiru Cheng, Yingbi Wu, Jiajia Wang, Yang Gao, Yujie Chen, Xiaomin Zha, Li Jin, Mingxi Liu, Xiaojin He, Pierre F Ray, Yunxia Cao, Feng Zhang
  • Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome
    Marta Codina-Sola, Mar Costa-Roger, Debora Pérez-García, Raquel Flores, Maria Gabriela Palacios-Verdú, Ivon Cusco, Luis Alberto Pérez-Jurado
  • Familial bilateral cryptorchidism is caused by recessive variants in RXFP2
    Katie Ayers, Rakesh Kumar, Gorjana Robevska, Shoni Bruell, Katrina Bell, Muneer A Malik, Ross A Bathgate, Andrew Sinclair
  • Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
    Mark J Hamilton, Richard C Caswell, Natalie Canham, Trevor Cole, Helen V Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury-Ecob, Soo-Mi Park, Leema Robert, Cecilie F Rustad, Emma Wakeling, Andrew O M Wilkie, The Deciphering Developmental Disorders Study, Stephen R F Twigg, Mohnish Suri
  • Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa
    Thanh-Minh T Nguyen, Sarah Hull, Ronald Roepman, L Ingeborgh van den Born, Machteld M Oud, Erik de Vrieze, Lisette Hetterschijt, Stef J F Letteboer, Sylvia E C van Beersum, Ellen A Blokland, Helger G Yntema, Frans P M Cremers, Paul A van der Zwaag, Gavin Arno, Erwin van Wijk, Andrew R Webster, Lonneke Haer-Wigman
  • Mutations in HECW2 are associated with intellectual disability and epilepsy
    Jonatan Halvardson, Jin J Zhao, Ammar Zaghlool, Christian Wentzel, Patrik Georgii-Hemming, Else Månsson, Helena Ederth Sävmarker, Göran Brandberg, Cecilia Soussi Zander, Ann-Charlotte Thuresson, Lars Feuk
  • Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia
    Christopher M Watson, Laura A Crinnion, Helen Murphy, Melanie Newbould, Sally M Harrison, Carolina Lascelles, Agne Antanaviciute, Ian M Carr, Eamonn Sheridan, David T Bonthron, Audrey Smith

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