Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic functionMarjolein H Willemsen, Wei Ba, Willemijn M Wissink-Lindhout, Arjan P M de Brouwer, Stefan A Haas, Melanie Bienek, Hao Hu, Lisenka E L M Vissers, Hans van Bokhoven, Vera Kalscheuer, Nael Nadif Kasri, Tjitske Kleefstra
8 May 2014
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)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
See the full list of authors15 April 2014
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)H F A Vasen, Z Ghorbanoghli, F Bourdeaut, O Cabaret, O Caron, A Duval, N Entz-Werle, Y Goldberg, D Ilencikova, C P Kratz, N Lavoine, J Loeffen, F H Menko, M Muleris, G Sebille
See the full list of authors20 February 2014
Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermiaÖzgecan Ayhan, Mahmut Balkan, Ayse Guven, Renin Hazan, Murat Atar, Atalay Tok, Aslıhan Tolun
15 January 2014
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndromeVishnu Anand Cuddapah, Rajesh B Pillai, Kiran V Shekar, Jane B Lane, Kathleen J Motil, Steven A Skinner, Daniel Charles Tarquinio, Daniel G Glaze, Gerald McGwin, Walter E Kaufmann, Alan K Percy, Jeffrey L Neul, Michelle L Olsen
7 January 2014
Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counsellingStefan Meyer, Marc Tischkowitz, Kate Chandler, Alan Gillespie, Jillian M Birch, D Gareth Evans
20 November 2013
Autism traits in the RASopathiesBrigid Adviento, Iris L Corbin, Felicia Widjaja, Guillaume Desachy, Nicole Enrique, Tena Rosser, Susan Risi, Elysa J Marco, Robert L Hendren, Carrie E Bearden, Katherine A Rauen, Lauren A Weiss
7 October 2013
Criteria and prediction models for mismatch repair gene mutations: a reviewAung Ko Win, Robert J MacInnis, James G Dowty, Mark A Jenkins
16 August 2013
Support of the histaminergic hypothesis in Tourette Syndrome: association of the histamine decarboxylase gene in a large sample of familiesIordanis Karagiannidis, Sandra Dehning, Paul Sandor, Zsanett Tarnok, Renata Rizzo, Tomasz Wolanczyk, Marcos Madruga-Garrido, Johannes Hebebrand, Markus M Nöthen, Gerd Lehmkuhl, Luca Farkas, Peter Nagy, Urszula Szymanska, Zachos Anastasiou, Vasileios Stathias
See the full list of authors3 July 2013
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencingXia Wang, Hui Wang, Vincent Sun, Han-Fang Tuan, Vafa Keser, Keqing Wang, Huanan Ren, Irma Lopez, Jacques E Zaneveld, Sorath Siddiqui, Stephanie Bowles, Ayesha Khan, Jason Salvo, Samuel G Jacobson, Alessandro Iannaccone
See the full list of authors11 July 2013