genetics

  • Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
    Luis R Lopes, Anna Zekavati, Petros Syrris, Mike Hubank, Claudia Giambartolomei, Chrysoula Dalageorgou, Sharon Jenkins, William McKenna, Uk10k Consortium Consortium, Vincent Plagnol, Perry M Elliott
  • Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis
    Vincent José Soler, Khanh-Nhat Tran-Viet, Stéphane D Galiacy, Vachiranee Limviphuvadh, Thomas Patrick Klemm, Elizabeth St Germain, Pierre R Fournié, Céline Guillaud, Sebastian Maurer-Stroh, Felicia Hawthorne, Cyrielle Suarez, Bernadette Kantelip, Natalie A Afshari, Isabelle Creveaux, Xiaoyan Luo, Weihua Meng, Patrick Calvas, Myriam Cassagne, Jean-Louis Arné, Steven G Rozen, François Malecaze, Terri L Young
  • TBC1D24 truncating mutation resulting in severe neurodegeneration
    Ayse Guven, Aslıhan Tolun
  • Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
    Geneviève Baujat, Céline Huber, Joyce El Hokayem, Roseline Caumes, Claire Do Ngoc Thanh, Albert David, Anne-Lise Delezoide, Anne Dieux-Coeslier, Brigitte Estournet, Christine Francannet, Honorine Kayirangwa, Florence Lacaille, Muriel Le Bourgeois, Jelena Martinovic, Rémi Salomon, Sabine Sigaudy, Valérie Malan, Arnold Munnich, Martine Le Merrer, Kim Hanh Le Quan Sang, Valérie Cormier-Daire
  • Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime
    Lars Anders Forsberg, Devin Absher, Jan Piotr Dumanski
  • Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population
    Hansoo Park, Seungbok Lee, Hyun-Jin Kim, Young Seok Ju, Jong-Yeon Shin, Dongwan Hong, Marcin von Grotthuss, Dong-Sung Lee, Changho Park, Jennifer Hayeon Kim, Boram Kim, Yun Joo Yoo, Sung-Il Cho, Joohon Sung, Charles Lee, Jong-Il Kim, Jeong-Sun Seo
  • Epigenetic state and expression of imprinted genes in umbilical cord correlates with growth parameters in human pregnancy
    Ai Lin Lim, Shilen Ng, Suet Ching Pamela Leow, Robin Choo, Mitsuteru Ito, Yiong Huak Chan, Siew Kheng Goh, Emilia Tng, Kenneth Kwek, Yap Seng Chong, Peter D Gluckman, Anne C Ferguson-Smith
  • Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus
    Anais Drielsma, Chaim Jalas, Nicolas Simonis, Julie Désir, Natalia Simanovsky, Isabelle Pirson, Orly Elpeleg, Marc Abramowicz, Simon Edvardson
  • A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
    Manu Sharma, John P A Ioannidis, Jan O Aasly, Grazia Annesi, Alexis Brice, Lars Bertram, Maria Bozi, Maria Barcikowska, David Crosiers, Carl E Clarke, Maurizio F Facheris, Matthew Farrer, Gaetan Garraux, Suzana Gispert, Georg Auburger, Carles Vilariño-Güell, Georgios M Hadjigeorgiou, Andrew A Hicks, Nobutaka Hattori, Beom S Jeon, Zygmunt Jamrozik, Anna Krygowska-Wajs, Suzanne Lesage, Christina M Lill, Juei-Jueng Lin, Timothy Lynch, Peter Lichtner, Anthony E Lang, Cecile Libioulle, Miho Murata, Vincent Mok, Barbara Jasinska-Myga, George D Mellick, Karen E Morrison, Thomas Meitnger, Alexander Zimprich, Grzegorz Opala, Peter P Pramstaller, Irene Pichler, Sung Sup Park, Aldo Quattrone, Ekaterina Rogaeva, Owen A. Ross, Leonidas Stefanis, Joanne D Stockton, Wataru Satake, Peter A Silburn, Tim M Strom, Jessie Theuns, Eng- King Tan, Tatsushi Toda, Hiroyuki Tomiyama, Ryan J Uitti, Christine Van Broeckhoven, Karin Wirdefeldt, Zbigniew Wszolek, Georgia Xiromerisiou, Harumi S Yomono, Kuo-Chu Yueh, Yi Zhao, Thomas Gasser, Demetrius Maraganore, Rejko Krüger, on behalf of GEOPD consortium
  • Rare variants in XRCC2 as breast cancer susceptibility alleles
    Florentine S Hilbers, Juul T Wijnen, Nicoline Hoogerbrugge, Jan C Oosterwijk, Margriet J Collee, Paolo Peterlongo, Paolo Radice, Siranoush Manoukian, Irene Feroce, Fabio Capra, Fergus J Couch, Xianshu Wang, Lucia Guidugli, Kenneth Offit, Sohela Shah, Ian G Campbell, Ella R Thompson, Paul A James, Alison H Trainer, Javier Gracia, Javier Benitez, Christi J van Asperen, Peter Devilee

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