Clinical genetics

  • De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder
    Christian Babbs, Deborah Lloyd, Alistair T Pagnamenta, Stephen R F Twigg, Joanne Green, Simon J McGowan, Ghazala Mirza, Rebecca Naples, Vikram P Sharma, Emanuela V Volpi, Veronica J Buckle, Steven A Wall, Samantha J L Knight, International Molecular Genetic Study of Autism Consortium (IMGSAC), Jeremy R Parr, Andrew O M Wilkie
  • Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update
    Ana Beleza-Meireles, Jill Clayton-Smith, Jorge M Saraiva, May Tassabehji
  • Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
    Morad Ansari, Gemma Poke, Quentin Ferry, Kathleen Williamson, Roland Aldridge, Alison M Meynert, Hemant Bengani, Cheng Yee Chan, Hülya Kayserili, Şahin Avci, Raoul C M Hennekam, Anne K Lampe, Egbert Redeker, Tessa Homfray, Alison Ross, Marie Falkenberg Smeland, Sahar Mansour, Michael J Parker, Jacqueline A Cook, Miranda Splitt, Richard B Fisher, Alan Fryer, Alex C Magee, Andrew Wilkie, Angela Barnicoat, Angela F Brady, Nicola S Cooper, Catherine Mercer, Charu Deshpande, Christopher P Bennett, Daniela T Pilz, Deborah Ruddy, Deirdre Cilliers, Diana S Johnson, Dragana Josifova, Elisabeth Rosser, Elizabeth M Thompson, Emma Wakeling, Esther Kinning, Fiona Stewart, Frances Flinter, Katta M Girisha, Helen Cox, Helen V Firth, Helen Kingston, Jamie S Wee, Jane A Hurst, Jill Clayton-Smith, John Tolmie, Julie Vogt, Katrina Tatton–Brown, Kate Chandler, Katrina Prescott, Louise Wilson, Mahdiyeh Behnam, Meriel McEntagart, Rosemarie Davidson, Sally-Ann Lynch, Sanjay Sisodiya, Sarju G Mehta, Shane A McKee, Shehla Mohammed, Simon Holden, Soo-Mi Park, Susan E Holder, Victoria Harrison, Vivienne McConnell, Wayne K Lam, Andrew J Green, Dian Donnai, Maria Bitner-Glindzicz, Deirdre E Donnelly, Christoffer Nellåker, Martin S Taylor, David R FitzPatrick
  • Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy
    Francesca Brun, Carl V Barnes, Gianfranco Sinagra, Dobromir Slavov, Giulia Barbati, Xiao Zhu, Sharon L Graw, Anita Spezzacatene, Bruno Pinamonti, Marco Merlo, Ernesto E Salcedo, William H Sauer, Matthew R G Taylor, Luisa Mestroni
  • Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis
    Hongzhou Cui, Longnian Li, Wenjun Wang, Jie Shen, Zhen Yue, Xiaodong Zheng, Xianbo Zuo, Bo Liang, Min Gao, Xing Fan, Xianyong Yin, Changbing Shen, Chao Yang, Change Zhang, Xiaoguang Zhang, Yujun Sheng, Jinping Gao, Zhengwei Zhu, Da Lin, Anping Zhang, Zaixing Wang, Shengxiu Liu, Liangdan Sun, Sen Yang, Yong Cui, Xuejun Zhang
  • The clinical significance of small copy number variants in neurodevelopmental disorders
    Reza Asadollahi, Beatrice Oneda, Pascal Joset, Silvia Azzarello-Burri, Deborah Bartholdi, Katharina Steindl, Marie Vincent, Joana Cobilanschi, Heinrich Sticht, Rosa Baldinger, Regina Reissmann, Irene Sudholt, Christian T Thiel, Arif B Ekici, André Reis, Emilia K Bijlsma, Joris Andrieux, Anne Dieux, David FitzPatrick, Susanne Ritter, Alessandra Baumer, Beatrice Latal, Barbara Plecko, Oskar G Jenni, Anita Rauch
  • A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia
    Ho Tsoi, Allen C S Yu, Zhefan S Chen, Nelson K N Ng, Anne Y Y Chan, Liz Y P Yuen, Jill M Abrigo, Suk Ying Tsang, Stephen K W Tsui, Tony M F Tong, Ivan F M Lo, Stephen T S Lam, Vincent C T Mok, Lawrence K S Wong, Jacky C K Ngo, Kwok-Fai Lau, Ting-Fung Chan, H Y Edwin Chan
  • Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein
    Matthew F Pescosolido, Matthew Schwede, Ashley Johnson Harrison, Michael Schmidt, Ece D Gamsiz, Wendy S Chen, John P Donahue, Natasha Shur, Beth A Jerskey, Chanika Phornphutkul, Eric M Morrow
  • Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria
    Yaacov Frishberg, Avraham Zeharia, Roman Lyakhovetsky, Ruth Bargal, Ruth Belostotsky
  • Mutations in SETD2 cause a novel overgrowth condition
    Armelle Luscan, Ingrid Laurendeau, Valérie Malan, Christine Francannet, Sylvie Odent, Fabienne Giuliano, Didier Lacombe, Renaud Touraine, Michel Vidaud, Eric Pasmant, Valérie Cormier-Daire

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