The European Human Genetics Conference 2014

Content

• 

  Disease gene identification strategies for exome sequencing

  • Christian Gilissen
  • Alexander Hoischen
  • Joris A Veltman

  Review18 Jan 2012 European Journal of Human Genetics
• 

  The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

  • Bradley N Smith
  • Stephen Newhouse
  • Christopher E Shaw

  Article13 Jun 2012 European Journal of Human Genetics
• 

  1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data

  • Jie Huang
  • David Ellinghaus
  • Yun Li

  Short Report1 Feb 2012 European Journal of Human Genetics

• High prevalence of genetic variants previously associated with LQT syndrome in new exome data

  • Lena Refsgaard
  • Anders G Holst
  • Morten S Olesen

  Short ReportOpen Access29 Feb 2012 European Journal of Human Genetics
• 

  Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisation

  • Alan H Handyside
  • Markus Montag
  • Joep Geraedts

  Article8 Feb 2012 European Journal of Human Genetics
• 

  Genome-wide association study of coronary artery disease in the Japanese

  • Fumihiko Takeuchi
  • Mitsuhiro Yokota
  • Norihiro Kato

  Article5 Oct 2011 European Journal of Human Genetics

• Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

  • Elaine A Sugarman
  • Narasimhan Nagan
  • Bernice A Allitto

  ArticleOpen Access3 Aug 2011 European Journal of Human Genetics
• 

  Advances in Alport syndrome diagnosis using next-generation sequencing

  • Rosangela Artuso
  • Chiara Fallerini
  • Mirella Bruttini

  Article7 Sep 2011 European Journal of Human Genetics
• 

  To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts

  • Gabrielle M Christenhusz
  • Koenraad Devriendt
  • Kris Dierickx

  Review27 Jun 2012 European Journal of Human Genetics

• Legislation on direct-to-consumer genetic testing in seven European countries

  • Pascal Borry
  • Rachel E van Hellemondt
  • Heidi Howard

  Policy25 Jan 2012 European Journal of Human Genetics

• Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

  • Carola Hedberg
  • Atle Melberg
  • Anders Oldfors

  Short Report7 Mar 2012 European Journal of Human Genetics
• 

  Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

  • Morag E Shanks
  • Susan M Downes
  • Andrea H Németh

  Article12 Sep 2012 European Journal of Human Genetics
• 

  MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study

  • Mireia Gausachs
  • Pilar Mur
  • Gabriel Capellá

  Article25 Jan 2012 European Journal of Human Genetics