European Journal of Human Genetics AOP

A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

European Journal of Human Genetics advance online publication, May 25 2016. doi:10.1038/ejhg.2016.46

Authors: Raman Kumar, Thuong Ha, Duyen Pham, Marie Shaw, Marie Mangelsdorf, Kathryn L Friend, Lynne Hobson, Gillian Turner, Jackie Boyle, Michael Field, Anna Hackett, Mark Corbett & Jozef Gecz

The risk of re-identification versus the need to identify individuals in rare disease research

The risk of re-identification versus the need to identify individuals in rare disease research

European Journal of Human Genetics advance online publication, May 25 2016. doi:10.1038/ejhg.2016.52

Authors: Mats G Hansson, Lochmüller Hanns, Riess Olaf, Schaefer Franz, Orth Michael, Rubinstein Yaffa, Molster Caron, Hugh Dawkins, Taruscio Domenica, Posada Manuel & Woods Simon

The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing: a randomised controlled trial

The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing: a randomised controlled trial

European Journal of Human Genetics advance online publication, May 18 2016. doi:10.1038/ejhg.2016.39

Authors: Lean Beulen, Michelle van den Berg, Brigitte HW Faas, Ilse Feenstra, Michiel Hageman, John MG van Vugt & Mireille N Bekker

A splice variant in the ACSL5 gene relates migraine with fatty acid activation in mitochondria

A splice variant in the ACSL5 gene relates migraine with fatty acid activation in mitochondria

European Journal of Human Genetics advance online publication, May 18 2016. doi:10.1038/ejhg.2016.54

Authors: Fuencisla Matesanz, María Fedetz, Cristina Barrionuevo, Mohamad Karaky, Antonio Catalá-Rabasa, Victor Potenciano, Raquel Bello-Morales, Jose-Antonio López-Guerrero & Antonio Alcina

22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium

22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium

European Journal of Human Genetics advance online publication, May 11 2016. doi:10.1038/ejhg.2016.36

Authors: Sheharyar S Baig, Mark Strong, Elisabeth Rosser, Nicola V Taverner, Ruth Glew, Zosia Miedzybrodzka, Angus Clarke, David Craufurd, UK Huntington’s Disease Prediction Consortium & Oliver W Quarrell

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

European Journal of Human Genetics advance online publication, May 11 2016. doi:10.1038/ejhg.2016.42

Authors: Bart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl AAP Willemsen, Hans Scheffer & Erik-Jan Kamsteeg

Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases

Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases

European Journal of Human Genetics advance online publication, May 11 2016. doi:10.1038/ejhg.2016.43

Authors: Mirjam Plantinga, Erwin Birnie, Kristin M Abbott, Richard J Sinke, Anneke M Lucassen, Juliette Schuurmans, Seyma Kaplan, Marian A Verkerk, Adelita V Ranchor & Irene M van Langen

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer

European Journal of Human Genetics advance online publication, May 11 2016. doi:10.1038/ejhg.2016.44

Authors: Clara Esteban-Jurado, Sebastià Franch-Expósito, Jenifer Muñoz, Teresa Ocaña, Sabela Carballal, Maria López-Cerón, Miriam Cuatrecasas, Maria Vila-Casadesús, Juan José Lozano, Enric Serra, Sergi Beltran, Alejandro Brea-Fernández, Clara Ruiz-Ponte, Antoni Castells, Luis Bujanda, Pilar Garre, Trinidad Caldés, Joaquín Cubiella, Francesc Balaguer & Sergi Castellví-Bel

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

European Journal of Human Genetics advance online publication, May 11 2016. doi:10.1038/ejhg.2016.45

Authors: Katja Eggermann, Jet Bliek, Frédéric Brioude, Elizabeth Algar, Karin Buiting, Silvia Russo, Zeynep Tümer, David Monk, Gudrun Moore, Thalia Antoniadi, Fiona Macdonald, Irène Netchine, Paolo Lombardi, Lukas Soellner, Matthias Begemann, Dirk Prawitt, Eamonn R Maher, Marcel Mannens, Andrea Riccio, Rosanna Weksberg, Pablo Lapunzina, Karen Grønskov, Deborah JG Mackay & Thomas Eggermann

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

European Journal of Human Genetics advance online publication, May 11 2016. doi:10.1038/ejhg.2016.47

Authors: Johannes G Dauwerse, Martine van Belzen, Arie van Haeringen, Gijs van Santen, Christian van de Lans, Elisa Rahikkala, Livia Garavelli, Martijn Breuning, Raoul Hennekam & Dorien Peters

Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease

Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease

European Journal of Human Genetics advance online publication, May 11 2016. doi:10.1038/ejhg.2016.48

Authors: Amali C Mallawaarachchi, Yvonne Hort, Mark J Cowley, Mark J McCabe, André Minoche, Marcel E Dinger, John Shine & Timothy J Furlong

Genetic variants in RBFOX3 are associated with sleep latency

Genetic variants in RBFOX3 are associated with sleep latency

European Journal of Human Genetics advance online publication, May 4 2016. doi:10.1038/ejhg.2016.31

Authors: Najaf Amin, Karla V Allebrandt, Ashley van der Spek, Bertram Müller-Myhsok, Karin Hek, Maris Teder-Laving, Caroline Hayward, Tõnu Esko, Josine G van Mill, Hamdi Mbarek, Nathaniel F Watson, Scott A Melville, Fabiola M Del Greco, Enda M Byrne, Edwin Oole, Ivana Kolcic, Ting-hsu Chen, Daniel S Evans, Josef Coresh, Nicole Vogelzangs, Juha Karjalainen, Gonneke Willemsen, Sina A Gharib, Lina Zgaga, Evelin Mihailov, Katie L Stone, Harry Campbell, Rutger WW Brouwer, Ayse Demirkan, Aaron Isaacs, Zoran Dogas, Kristin D Marciante, Susan Campbell, Fran Borovecki, Annemarie I Luik, Man Li, Jouke Jan Hottenga, Jennifer E Huffman, Mirjam CGN van den Hout, Steven R Cummings, Yurii S Aulchenko, Philip R Gehrman, André G Uitterlinden, Heinz-Erich Wichmann, Martina Müller-Nurasyid, Rudolf SN Fehrmann, Grant W Montgomery, Albert Hofman, Wen Hong Linda Kao, Ben A Oostra, Alan F Wright, Jacqueline M Vink, James F Wilson, Peter P Pramstaller, Andrew A Hicks, Ozren Polasek, Naresh M Punjabi, Susan Redline, Bruce M Psaty, Andrew C Heath, Martha Merrow, Gregory J Tranah, Daniel J Gottlieb, Dorret I Boomsma, Nicholas G Martin, Igor Rudan, Henning Tiemeier, Wilfred FJ van IJcken, Brenda W Penninx, Andres Metspalu, Thomas Meitinger, Lude Franke, Till Roenneberg & Cornelia M van Duijn

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

European Journal of Human Genetics advance online publication, May 4 2016. doi:10.1038/ejhg.2016.37

Authors: Luca Trotta, Timo Hautala, Sari Hämäläinen, Jaana Syrjänen, Hanna Viskari, Henrikki Almusa, Maija Lepisto, Meri Kaustio, Kimmo Porkka, Aarno Palotie, Mikko Seppänen & Janna Saarela