Genome-wide

A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss
Ghulam Mujtaba, Julie M Schultz, Ayesha Imtiaz, Robert J Morell, Thomas B Friedman, Sadaf Naz

Journal of Medical Genetics Aug 2015, 52 (8) 548-552; DOI: 10.1136/jmedgenet-2015-103023
Potential research participants support the return of raw sequence data
Anna Middleton, Caroline F Wright, Katherine I Morley, Eugene Bragin, Helen V Firth, Matthew E Hurles, Michael Parker

Journal of Medical Genetics Aug 2015, 52 (8) 571-574; DOI: 10.1136/jmedgenet-2015-103119
Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus
Janet A Buchanan, David Chitayat, Elena Kolomietz, Hin C Lee, Stephen W Scherer, Marsha D Speevak, Hana Sroka, Dimitri J Stavropoulos

Journal of Medical Genetics Sep 2015, 52 (9) 585-586; DOI: 10.1136/jmedgenet-2015-103223
Haplotype-based approach to known MS-associated regions increases the amount of explained risk
Pouya Khankhanian, Pierre-Antoine Gourraud, Antoine Lizee, Douglas S Goodin

Journal of Medical Genetics Sep 2015, 52 (9) 587-594; DOI: 10.1136/jmedgenet-2015-103071
Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance
Yolande F M Ramos, Sarah Metrustry, Nigel Arden, Anne C Bay-Jensen, Marian Beekman, Anton J M de Craen, L Adrienne Cupples, Tõnu Esko, Evangelos Evangelou, David T Felson, Deborah J Hart, John P A Ioannidis, Morten Karsdal, Margreet Kloppenburg, Floris Lafeber, Andres Metspalu, Kalliope Panoutsopoulou, P Eline Slagboom, Tim D Spector, Erwin W E van Spil, Andre G Uitterlinden, Yanyan Zhu, arcOGEN consortium, TreatOA collaborators, Ana M Valdes, Joyce B J van Meurs, Ingrid Meulenbelt

Journal of Medical Genetics Sep 2014, 51 (9) 596-604; DOI: 10.1136/jmedgenet-2014-102478
Genetic architectures of ADME genes in five Eurasian admixed populations and implications for drug safety and efficacy
Jing Li, Haiyi Lou, Xiong Yang, Dongsheng Lu, Shilin Li, Li Jin, Xinwei Pan, Wenjun Yang, Manshu Song, Dolikun Mamatyusupu, Shuhua Xu

Journal of Medical Genetics Sep 2014, 51 (9) 614-622; DOI: 10.1136/jmedgenet-2014-102530
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

Journal of Medical Genetics Oct 2012, 49 (10) 621-629; DOI: 10.1136/jmedgenet-2012-100977
De novo copy number variants are associated with congenital diaphragmatic hernia
Lan Yu, Julia Wynn, Lijiang Ma, Saurav Guha, George B Mychaliska, Timothy M Crombleholme, Kenneth S Azarow, Foong Yen Lim, Dai H Chung, Douglas Potoka, Brad W Warner, Brian Bucher, Charles A LeDuc, Katherine Costa, Charles Stolar, Gudrun Aspelund, Marc S Arkovitz, Wendy K Chung

Journal of Medical Genetics Oct 2012, 49 (10) 650-659; DOI: 10.1136/jmedgenet-2012-101135
Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size
Jingmei Li, Jia Nee Foo, Nils Schoof, Jajini S Varghese, Pablo Fernandez-Navarro, Gretchen L Gierach, Swee Tian Quek, Mikael Hartman, Silje Nord, Vessela N Kristensen, Marina Pollán, Jonine D Figueroa, Deborah J Thompson, Yi Li, Chiea Chuen Khor, Keith Humphreys, Jianjun Liu, Kamila Czene, Per Hall

Journal of Medical Genetics Oct 2013, 50 (10) 666-673; DOI: 10.1136/jmedgenet-2013-101708
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

Journal of Medical Genetics Oct 2014, 51 (10) 677-688; DOI: 10.1136/jmedgenet-2014-102588

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