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genetics

  • Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis
    Emma MM Burkitt Wright, Emma Sach, Saba Sharif, Oliver Quarrell, Thomas Carroll, Richard W Whitehouse, Meena Upadhyaya, Susan M Huson, D Gareth R Evans
    Journal of Medical Genetics Sep 2013, 50 (9) 606-613; DOI: 10.1136/jmedgenet-2013-101648
  • 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
    Journal of Medical Genetics Nov 2012, 49 (11) 721-726; DOI: 10.1136/jmedgenet-2012-101155
  • An X chromosome-wide association analysis identifies variants in GPR174 as a risk factor for Graves’ disease
    Xun Chu, Min Shen, Fang Xie, Xiao-Jing Miao, Wei-Hua Shou, Lin Liu, Peng-Peng Yang, Ya-Nan Bai, Kai-Yue Zhang, Lin Yang, Qi Hua, Wen-Dong Liu, Yan Dong, Hai-Feng Wang, Jin-Xiu Shi, Yi Wang, Huai-Dong Song, Sai-Juan Chen, Zhu Chen, Wei Huang
    Journal of Medical Genetics Jul 2013, 50 (7) 479-485; DOI: 10.1136/jmedgenet-2013-101595
  • 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
    Journal of Medical Genetics Apr 2013, 50 (4) 228-239; DOI: 10.1136/jmedgenet-2012-101270
  • Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime
    Lars Anders Forsberg, Devin Absher, Jan Piotr Dumanski
    Journal of Medical Genetics Jan 2013, 50 (1) 1-10; DOI: 10.1136/jmedgenet-2012-101322
  • 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
    Journal of Medical Genetics Oct 2012, 49 (10) 644-649; DOI: 10.1136/jmedgenet-2012-101189
  • FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly
    Nicolas Simonis, Isabelle Migeotte, Nelle Lambert, Camille Perazzolo, Deepthi C de Silva, Boyan Dimitrov, Claudine Heinrichs, Sandra Janssens, Bronwyn Kerr, Geert Mortier, Guy Van Vliet, Philippe Lepage, Georges Casimir, Marc Abramowicz, Guillaume Smits, Catheline Vilain
    Journal of Medical Genetics Sep 2013, 50 (9) 585-592; DOI: 10.1136/jmedgenet-2013-101603
  • Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia
    Mark E Samuels, Jacek Majewski, Najmeh Alirezaie, Isabel Fernandez, Ferran Casals, Natalie Patey, Hélène Decaluwe, Isabelle Gosselin, Elie Haddad, Alan Hodgkinson, Youssef Idaghdour, Valerie Marchand, Jacques L Michaud, Marc-André Rodrigue, Sylvie Desjardins, Stéphane Dubois, Francoise Le Deist, Philip Awadalla, Vincent Raymond, Bruno Maranda
    Journal of Medical Genetics May 2013, 50 (5) 324-329; DOI: 10.1136/jmedgenet-2012-101483
  • 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
    Journal of Medical Genetics Dec 2012, 49 (12) 747-752; DOI: 10.1136/jmedgenet-2012-101209
  • Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels
    Elisabeth M van Leeuwen, Aniko Sabo, Joshua C Bis, Jennifer E Huffman, Ani Manichaikul, Albert V Smith, Mary F Feitosa, Serkalem Demissie, Peter K Joshi, Qing Duan, Jonathan Marten, Jan B van Klinken, Ida Surakka, Ilja M Nolte, Weihua Zhang, Hamdi Mbarek, Ruifang Li-Gao, Stella Trompet, Niek Verweij, Evangelos Evangelou, Leo-Pekka Lyytikäinen, Bamidele O Tayo, Joris Deelen, Peter J van der Most, Sander W van der Laan, Dan E Arking, Alanna Morrison, Abbas Dehghan, Oscar H Franco, Albert Hofman, Fernando Rivadeneira, Eric J Sijbrands, Andre G Uitterlinden, Josyf C Mychaleckyj, Archie Campbell, Lynne J Hocking, Sandosh Padmanabhan, Jennifer A Brody, Kenneth M Rice, Charles C White, Tamara Harris, Aaron Isaacs, Harry Campbell, Leslie A Lange, Igor Rudan, Ivana Kolcic, Pau Navarro, Tatijana Zemunik, Veikko Salomaa, The LifeLines Cohort Study, Angad S Kooner, Jaspal S Kooner, Benjamin Lehne, William R Scott, Sian-Tsung Tan, Eco J de Geus, Yuri Milaneschi, Brenda W J H Penninx, Gonneke Willemsen, Renée de Mutsert, Ian Ford, Ron T Gansevoort, Marcelo P Segura-Lepe, Olli T Raitakari, Jorma S Viikari, Kjell Nikus, Terrence Forrester, Colin A McKenzie, Anton J M de Craen, Hester M de Ruijter, CHARGE Lipids Working Group, Gerard Pasterkamp, Harold Snieder, Albertine J Oldehinkel, P Eline Slagboom, Richard S Cooper, Mika Kähönen, Terho Lehtimäki, Paul Elliott, Pim van der Harst, J Wouter Jukema, Dennis O Mook-Kanamori, Dorret I Boomsma, John C Chambers, Morris Swertz, Samuli Ripatti, Ko Willems van Dijk, Veronique Vitart, Ozren Polasek, Caroline Hayward, James G Wilson, James F Wilson, Vilmundur Gudnason, Stephen S Rich, Bruce M Psaty, Ingrid B Borecki, Eric Boerwinkle, Jerome I Rotter, L Adrienne Cupples, Cornelia M van Duijn
    Journal of Medical Genetics Jul 2016, 53 (7) 441-449; DOI: 10.1136/jmedgenet-2015-103439

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