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CLINICAL

  • Functional and genetic epidemiological characterisation of the FFAR4 (GPR120) p.R270H variant in the Danish population
    Marie A Vestmar, Ehm A Andersson, Charlotte R Christensen, Maria Hauge, Charlotte Glümer, Allan Linneberg, Daniel R Witte, Marit E Jørgensen, Cramer Christensen, Ivan Brandslund, Torsten Lauritzen, Oluf Pedersen, Birgitte Holst, Niels Grarup, Thue W Schwartz, Torben Hansen
    Journal of Medical Genetics Sep 2016, 53 (9) 616-623; DOI: 10.1136/jmedgenet-2015-103728
  • A splicing mutation in VPS4B causes dentin dysplasia I
    Qi Yang, Dong Chen, Fu Xiong, Danna Chen, Cuixian Liu, Yanhui Liu, Qiuxia Yu, Jun Xiong, Jinzhong Liu, Kunyang Li, Lingfeng Zhao, Yuhua Ye, Hong Zhou, Lingling Hu, Zhihui Tian, Xuan Shang, Leitao Zhang, Xiaofeng Wei, Wanjun Zhou, Dongri Li, Wenqing Zhang, Xiangmin Xu
    Journal of Medical Genetics Sep 2016, 53 (9) 624-633; DOI: 10.1136/jmedgenet-2015-103619
  • A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
    Charlotte L Alston, Caoimhe Howard, Monika Oláhová, Steven A Hardy, Langping He, Philip G Murray, Siobhan O'Sullivan, Gary Doherty, Julian P H Shield, Iain P Hargreaves, Ardeshir A Monavari, Ina Knerr, Peter McCarthy, Andrew A M Morris, David R Thorburn, Holger Prokisch, Peter E Clayton, Robert McFarland, Joanne Hughes, Ellen Crushell, Robert W Taylor
    Journal of Medical Genetics Sep 2016, 53 (9) 634-641; DOI: 10.1136/jmedgenet-2015-103576
  • GATOR1 complex: the common genetic actor in focal epilepsies
    Sara Baldassari, Laura Licchetta, Paolo Tinuper, Francesca Bisulli, Tommaso Pippucci
    Journal of Medical Genetics Aug 2016, 53 (8) 503-510; DOI: 10.1136/jmedgenet-2016-103883
  • Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
    Cyril Mignot, Celina von Stülpnagel, Caroline Nava, Dorothée Ville, Damien Sanlaville, Gaetan Lesca, Agnès Rastetter, Benoit Gachet, Yannick Marie, G Christoph Korenke, Ingo Borggraefe, Dorota Hoffmann-Zacharska, Elżbieta Szczepanik, Mariola Rudzka-Dybała, Uluç Yiş, Hande Çağlayan, Arnaud Isapof, Isabelle Marey, Eleni Panagiotakaki, Christian Korff, Eva Rossier, Angelika Riess, Stefanie Beck-Woedl, Anita Rauch, Christiane Zweier, Juliane Hoyer, André Reis, Mikhail Mironov, Maria Bobylova, Konstantin Mukhin, Laura Hernandez-Hernandez, Bridget Maher, Sanjay Sisodiya, Marius Kuhn, Dieter Glaeser, Sarah Weckhuysen, Candace T Myers, Heather C Mefford, Konstanze Hörtnagel, Saskia Biskup, EuroEPINOMICS-RES MAE working group, Johannes R Lemke, Delphine Héron, Gerhard Kluger, Christel Depienne
    Journal of Medical Genetics Aug 2016, 53 (8) 511-522; DOI: 10.1136/jmedgenet-2015-103451
  • A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype
    Gea Beunders, Jiddeke van de Kamp, Pradeep Vasudevan, Jenny Morton, Katrien Smets, Tjitske Kleefstra, Sonja A de Munnik, Janneke Schuurs-Hoeijmakers, Berten Ceulemans, Marcella Zollino, Sabine Hoffjan, Stefan Wieczorek, Joyce So, Leanne Mercer, Tanya Walker, Lea Velsher, the DDD study, Michael J Parker, Alex C Magee, Bart Elffers, R Frank Kooy, Helger G Yntema, Elizabeth J Meijers-Heijboer, Erik A Sistermans
    Journal of Medical Genetics Aug 2016, 53 (8) 523-532; DOI: 10.1136/jmedgenet-2015-103601
  • Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions
    Maria Tropeano, Deirdre Howley, Matthew J Gazzellone, C Ellie Wilson, Joo Wook Ahn, Dimitri J Stavropoulos, Clodagh M Murphy, Peggy S Eis, Eli Hatchwell, Richard J B Dobson, Dene Robertson, Muriel Holder, Melita Irving, Dragana Josifova, Annelise Nehammer, Mina Ryten, Debbie Spain, Mark Pitts, Jessica Bramham, Philip Asherson, Sarah Curran, Evangelos Vassos, Gerome Breen, Frances Flinter, Caroline Mackie Ogilvie, David A Collier, Stephen W Scherer, Grainne M McAlonan, Declan G Murphy
    Journal of Medical Genetics Aug 2016, 53 (8) 536-547; DOI: 10.1136/jmedgenet-2015-103621
  • Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples
    James D Fackenthal, Toshio Yoshimatsu, Bifeng Zhang, Gorka R de Garibay, Mara Colombo, Giovanna De Vecchi, Samantha C Ayoub, Kumar Lal, Olufunmilayo I Olopade, Ana Vega, Marta Santamariña, Ana Blanco, Barbara Wappenschmidt, Alexandra Becker, Claude Houdayer, Logan C Walker, Irene López-Perolio, Mads Thomassen, Michael Parsons, Phillip Whiley, Marinus J Blok, Rita D Brandão, Demis Tserpelis, Diana Baralle, Gemma Montalban, Sara Gutiérrez-Enríquez, Orland Díez, Conxi Lazaro, kConFaB Investigators, Amanda B Spurdle, Paolo Radice, Miguel de la Hoya
    Journal of Medical Genetics Aug 2016, 53 (8) 548-558; DOI: 10.1136/jmedgenet-2015-103570
  • Evidence of mutations in RIC3 acetylcholine receptor chaperone as a novel cause of autosomal-dominant Parkinson's disease with non-motor phenotypes
    Sumedha Sudhaman, Uday B Muthane, Madhuri Behari, Shyla T Govindappa, Ramesh C Juyal, B K Thelma
    Journal of Medical Genetics Aug 2016, 53 (8) 559-566; DOI: 10.1136/jmedgenet-2015-103616
  • Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity
    Aritoshi Iida, Weirong Xing, Martine K F Docx, Tomoki Nakashima, Zheng Wang, Mamori Kimizuka, Wim Van Hul, Dietz Rating, Jürgen Spranger, Hirohumi Ohashi, Noriko Miyake, Naomichi Matsumoto, Subburaman Mohan, Gen Nishimura, Geert Mortier, Shiro Ikegawa
    Journal of Medical Genetics Aug 2016, 53 (8) 568-574; DOI: 10.1136/jmedgenet-2016-103756

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