Copy-Number

  • CTNND2—a candidate gene for reading problems and mild intellectual disability
    Wolfgang Hofmeister, Daniel Nilsson, Alexandra Topa, Britt-Marie Anderlid, Fahimeh Darki, Hans Matsson, Isabel Tapia Páez, Torkel Klingberg, Lena Samuelsson, Valtteri Wirta, Francesco Vezzi, Juha Kere, Magnus Nordenskjöld, Elisabeth Syk Lundberg, Anna Lindstrand
  • Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
    Morad Ansari, Gemma Poke, Quentin Ferry, Kathleen Williamson, Roland Aldridge, Alison M Meynert, Hemant Bengani, Cheng Yee Chan, Hülya Kayserili, Şahin Avci, Raoul C M Hennekam, Anne K Lampe, Egbert Redeker, Tessa Homfray, Alison Ross, Marie Falkenberg Smeland, Sahar Mansour, Michael J Parker, Jacqueline A Cook, Miranda Splitt, Richard B Fisher, Alan Fryer, Alex C Magee, Andrew Wilkie, Angela Barnicoat, Angela F Brady, Nicola S Cooper, Catherine Mercer, Charu Deshpande, Christopher P Bennett, Daniela T Pilz, Deborah Ruddy, Deirdre Cilliers, Diana S Johnson, Dragana Josifova, Elisabeth Rosser, Elizabeth M Thompson, Emma Wakeling, Esther Kinning, Fiona Stewart, Frances Flinter, Katta M Girisha, Helen Cox, Helen V Firth, Helen Kingston, Jamie S Wee, Jane A Hurst, Jill Clayton-Smith, John Tolmie, Julie Vogt, Katrina Tatton–Brown, Kate Chandler, Katrina Prescott, Louise Wilson, Mahdiyeh Behnam, Meriel McEntagart, Rosemarie Davidson, Sally-Ann Lynch, Sanjay Sisodiya, Sarju G Mehta, Shane A McKee, Shehla Mohammed, Simon Holden, Soo-Mi Park, Susan E Holder, Victoria Harrison, Vivienne McConnell, Wayne K Lam, Andrew J Green, Dian Donnai, Maria Bitner-Glindzicz, Deirdre E Donnelly, Christoffer Nellåker, Martin S Taylor, David R FitzPatrick
  • The clinical significance of small copy number variants in neurodevelopmental disorders
    Reza Asadollahi, Beatrice Oneda, Pascal Joset, Silvia Azzarello-Burri, Deborah Bartholdi, Katharina Steindl, Marie Vincent, Joana Cobilanschi, Heinrich Sticht, Rosa Baldinger, Regina Reissmann, Irene Sudholt, Christian T Thiel, Arif B Ekici, André Reis, Emilia K Bijlsma, Joris Andrieux, Anne Dieux, David FitzPatrick, Susanne Ritter, Alessandra Baumer, Beatrice Latal, Barbara Plecko, Oskar G Jenni, Anita Rauch
  • Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans
    Hana Lango Allen, Richard Caswell, Weijia Xie, Xiao Xu, Christopher Wragg, Peter D Turnpenny, Claire L S Turner, Michael N Weedon, Sian Ellard
  • A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus
    Ling Oei, Yi-Hsiang Hsu, Unnur Styrkarsdottir, Bert H Eussen, Annelies de Klein, Marjolein J Peters, Bjarni Halldorsson, Ching-Ti Liu, Nerea Alonso, Stephen K Kaptoge, Gudmar Thorleifsson, Göran Hallmans, Lynne J Hocking, Lise Bjerre Husted, Karen A Jameson, Marcin Kruk, Joshua R Lewis, Millan S Patel, Serena Scollen, Olle Svensson, Stella Trompet, Natasja M van Schoor, Kun Zhu, Brendan M Buckley, Cyrus Cooper, Ian Ford, David Goltzman, Jesús González-Macías, Bente Lomholt Langdahl, William D Leslie, Paul Lips, Roman S Lorenc, José M Olmos, Ulrika Pettersson-Kymmer, David M Reid, José A Riancho, P Eline Slagboom, Carmen Garcia-Ibarbia, Thorvaldur Ingvarsson, Hrefna Johannsdottir, Robert Luben, Carolina Medina-Gómez, Pascal Arp, Kannabiran Nandakumar, Stefan Th Palsson, Gunnar Sigurdsson, Joyce B J van Meurs, Yanhua Zhou, Albert Hofman, J Wouter Jukema, Huibert A P Pols, Richard L Prince, L Adrienne Cupples, Christian R Marshall, Dalila Pinto, Daisuke Sato, Stephen W Scherer, Jonathan Reeve, Unnur Thorsteinsdottir, David Karasik, J Brent Richards, Kari Stefansson, André G Uitterlinden, Stuart H Ralston, John P A Ioannidis, Douglas P Kiel, Fernando Rivadeneira, Karol Estrada
  • Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
    Anna Lindstrand, Giedre Grigelioniene, Daniel Nilsson, Maria Pettersson, Wolfgang Hofmeister, Britt-Marie Anderlid, Sarina G. Kant, Claudia A L Ruivenkamp, Peter Gustavsson, Helena Valta, Stefan Geiberger, Alexandra Topa, Kristina Lagerstedt-Robinson, Fulya Taylan, Josephine Wincent, Tobias Laurell, Minna Pekkinen, Magnus Nordenskjöld, Outi Mäkitie, Ann Nordgren
  • TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension
    Wilhelmina S Kerstjens-Frederikse, Ernie M H F Bongers, Marcus T R Roofthooft, Edward M Leter, J Menno Douwes, Arie Van Dijk, Anton Vonk-Noordegraaf, Krista K Dijk-Bos, Lies H Hoefsloot, Elke S Hoendermis, Johan J P Gille, Birgit Sikkema-Raddatz, Robert M W Hofstra, Rolf M F Berger
  • Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation
    Gregory Ryan Handrigan, David Chitayat, Anath C Lionel, Maury Pinsk, Andrea K Vaags, Christian R Marshall, Sarah Dyack, Luis F Escobar, Bridget A Fernandez, Joseph C Stegman, Jill A Rosenfeld, Lisa G Shaffer, McKinsey Goodenberger, Jennelle C Hodge, Jason E Cain, Riyana Babul-Hirji, Dimitri J Stavropoulos, Verna Yiu, Stephen W Scherer, Norman D Rosenblum
  • Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime
    Lars Anders Forsberg, Devin Absher, Jan Piotr Dumanski
  • IL12B SNPs and copy number variation in IL23R gene associated with susceptibility to leprosy
    Shafat Ali, Amit Kumar Srivastava, Rupali Chopra, Shweta Aggarwal, Vijay Kumar Garg, Sambit Nath Bhattacharya, Rameshwar Nath Koul Bamezai

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