Journal of Medical Genetics: 51 (6)

Cancer genetics

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD) (15 April, 2014) Free
Katharina Wimmer, Christian P Kratz, Hans F A Vasen, Olivier Caron, Chrystelle Colas, Natacha Entz-Werle, Anne-Marie Gerdes, Yael Goldberg, Denisa Ilencikova, Martine Muleris, Alex Duval, Noémie Lavoine, Clara Ruiz-Ponte, Irene Slavc, Brigit Burkhardt, Laurence Brugieres, on behalf of the EU-Consortium Care for CMMRD (C4CMMRD)
Original article:
RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients
(31 March, 2014)
Charlotte J Dommering, Berber M Mol, Annette C Moll, Margaret Burton, Jacqueline Cloos, Josephine C Dorsman, Hanne Meijers-Heijboer, Annemarie H van der Hout

Original article: Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum (8 April, 2014)
Anne Thorwarth, Sarah Schnittert-Hübener, Pamela Schrumpf, Ines Müller, Sabine Jyrch, Christof Dame, Heike Biebermann, Gunnar Kleinau, Juri Katchanov, Markus Schuelke, Grit Ebert, Anne Steininger, Carsten Bönnemann, Knut Brockmann, Hans-Jürgen Christen, Patricia Crock, Francis deZegher, Matthias Griese, Jacqueline Hewitt, Sten Ivarsson, Christoph Hübner, Klaus Kapelari, Barbara Plecko, Dietz Rating, Iva Stoeva, Hans-Hilger Ropers, Annette Grüters, Reinhard Ullmann, Heiko Krude

Original article: HLA alleles as biomarkers of high-titre neutralising antibodies to interferon-β therapy in multiple sclerosis (19 April, 2014)
Concepción Núñez, Mª Carmen Cénit, Roberto Alvarez-Lafuente, Jordi Río, Miguel Fernández-Arquero, Rafael Arroyo, Xavier Montalbán, Oscar Fernández, Begoña Oliver-Martos, Laura Leyva, Manuel Comabella, Elena Urcelay
A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups
(10 April, 2014)
Douglas Londono, Ikuyo Kou, Todd A Johnson, Swarkar Sharma, Yoji Ogura, Tatsuhiko Tsunoda, Atsushi Takahashi, Morio Matsumoto, John A Herring, Tsz-Ping Lam, Xingyan Wang, Elisa M S Tam, You-Qiang Song, Yan-Hui Fan, Danny Chan, Kathryn S E Cheah, Xusheng Qiu, Hua Jiang, Dongsheng Huang, Japanese Scoliosis Clinical Research Group, TSRHC IS Clinical Group, the International Consortium for Scoliosis Genetics, Peiqiang Su, Pak Sham, Kenneth M C Cheung, Keith D K Luk, Derek Gordon, Yong Qiu, Jack Cheng, Nelson Tang, Shiro Ikegawa, Carol A Wise

Short report: A familial disorder of altered DNA-methylation (10 April, 2014)
Almuth Caliebe, Julia Richter, Ole Ammerpohl, Deniz Kanber, Jasmin Beygo, Susanne Bens, Andrea Haake, Eva Jüttner, Bernhard Korn, Deborah J G Mackay, José I Martin-Subero, Inga Nagel, Neil J Sebire, Larissa Seidmann, Inga Vater, Constantin Sylvius von Kaisenberg, I Karen Temple, Bernhard Horsthemke, Karin Buiting, Reiner Siebert
Original article:
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly
(17 April, 2014)
Kelly A Bear, Benjamin D Solomon, Sonir Antonini, Ivo J P Arnhold, Marcela M França, Erica H Gerkes, Dorothy K Grange, Donald W Hadley, Jarmo Jääskeläinen, Sabrina S Paulo, Patrick Rump, Constantine A Stratakis, Elizabeth M Thompson, Mary Willis, Thomas L Winder, Alexander A L Jorge, Erich Roessler, Maximilian Muenke

Original article:
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
(4 April, 2014)
Chizuru Akimoto, Alexander E Volk, Marka van Blitterswijk, Marleen Van den Broeck, Claire S Leblond, Serge Lumbroso, William Camu, Birgit Neitzel, Osamu Onodera, Wouter van Rheenen, Susana Pinto, Markus Weber, Bradley Smith, Melanie Proven, Kevin Talbot, Pamela Keagle, Alessandra Chesi, Antonia Ratti, Julie van der Zee, Helena Alstermark, Anna Birve, Daniela Calini, Angelica Nordin, Daniela C Tradowsky, Walter Just, Hussein Daoud, Sabrina Angerbauer, Mariely DeJesus-Hernandez, Takuya Konno, Anjali Lloyd-Jani, Mamede de Carvalho, Kevin Mouzat, John E Landers, Jan H Veldink, Vincenzo Silani, Aaron D Gitler, Christopher E Shaw, Guy A Rouleau, Leonard H van den Berg, Christine Van Broeckhoven, Rosa Rademakers, Peter M Andersen, Christian Kubisch

Correspondence: Expanding the clinical phenotype of COG6 deficiency (25 March, 2014)
Hanneke Haijes, Hubertus C M T Prinsen, Christian Thiel, Christian Koerner, Nanda M Verhoeven-Duif, Peter M van Hasselt
Correspondence: Variable phenotypic expression of COG6 mutations (25 March, 2014)
Fowzan S Alkuraya, Ranad Shaheen