Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.

Marie Coutelier, Iulia Blesneac, Arnaud Monteil, Marie-Lorraine Monin, Kunie Ando, Emeline Mundwiller, Alfredo Brusco, Isabelle Le Ber, Mathieu Anheim, Anna Castrioto, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Philippe Lory, Giovanni Stevanin, A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia American Journal of Human Genetics. ,vol. 97, pp. 726- 737 ,(2015) , 10.1016/J.AJHG.2015.09.007

Steven K. Hanks, Tony Hunter, Protein kinases 6. The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification. The FASEB Journal. ,vol. 9, pp. 576- 596 ,(1995) , 10.1096/FASEBJ.9.8.7768349

Martin Reincke, Silviu Sbiera, Akira Hayakawa, Marily Theodoropoulou, Andrea Osswald, Felix Beuschlein, Thomas Meitinger, Emi Mizuno-Yamasaki, Kohei Kawaguchi, Yasushi Saeki, Keiji Tanaka, Thomas Wieland, Elisabeth Graf, Wolfgang Saeger, Cristina L Ronchi, Bruno Allolio, Michael Buchfelder, Tim M Strom, Martin Fassnacht, Masayuki Komada, Mutations in the deubiquitinase gene USP8 cause Cushing's disease Nature Genetics. ,vol. 47, pp. 31- 38 ,(2015) , 10.1038/NG.3166

Hirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu, Hirofumi Kodera, Satoko Kumada, Kenji Sugai, Emi Kasai-Yoshida, Noriko Sawaura, Hiroya Nishida, Ai Hoshino, Fukiko Ryujin, Seiichiro Yoshioka, Kiyomi Nishiyama, Yukiko Kondo, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Hirokazu Arakawa, Mitsuhiro Kato, Noboru Mizushima, Naomichi Matsumoto, De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood Nature Genetics. ,vol. 45, pp. 445- 449 ,(2013) , 10.1038/NG.2562

David Warde-Farley, Sylva L. Donaldson, Ovi Comes, Khalid Zuberi, Rashad Badrawi, Pauline Chao, Max Franz, Chris Grouios, Farzana Kazi, Christian Tannus Lopes, Anson Maitland, Sara Mostafavi, Jason Montojo, Quentin Shao, George Wright, Gary D. Bader, Quaid Morris, The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function. Nucleic Acids Research. ,vol. 38, pp. 214- 220 ,(2010) , 10.1093/NAR/GKQ537

G McMichael, M N Bainbridge, E Haan, M Corbett, A Gardner, S Thompson, B W M van Bon, C L van Eyk, J Broadbent, C Reynolds, M E O'Callaghan, L S Nguyen, D L Adelson, R Russo, S Jhangiani, H Doddapaneni, D M Muzny, R A Gibbs, J Gecz, A H MacLennan, Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy Molecular Psychiatry. ,vol. 20, pp. 176- 182 ,(2015) , 10.1038/MP.2014.189

Jennifer Kachergus, Ignacio F Mata, Mary Hulihan, Julie P Taylor, Sarah Lincoln, Jan Aasly, J Mark Gibson, Owen A Ross, Timothy Lynch, Joseph Wiley, Haydeh Payami, John Nutt, Demetrius M Maraganore, Krzysztof Czyzewski, Maria Styczynska, Zbigniew K Wszolek, Matthew J Farrer, Mathias Toft, None, Identification of a Novel LRRK2 Mutation Linked to Autosomal Dominant Parkinsonism: Evidence of a Common Founder across European Populations American Journal of Human Genetics. ,vol. 76, pp. 672- 680 ,(2005) , 10.1086/429256

Martin Renatus, Shirley Gil Parrado, Allan D'Arcy, Ulf Eidhoff, Bernd Gerhartz, Ulrich Hassiepen, Benoit Pierrat, Ralph Riedl, Daniela Vinzenz, Susanne Worpenberg, Markus Kroemer, Structural Basis of Ubiquitin Recognition by the Deubiquitinating Protease USP2 Structure. ,vol. 14, pp. 1293- 1302 ,(2006) , 10.1016/J.STR.2006.06.012

Maartje van de Vorst, Bregje W. M. van Bon, Marjolein H. Willemsen, Michael Kwint, Irene M. Janssen, Alexander Hoischen, Annette Schenck, Richard Leach, Robert Klein, Rick Tearle, Tan Bo, Rolph Pfundt, Helger G. Yntema, Bert B. A. de Vries, Tjitske Kleefstra, Han G. Brunner, Lisenka E. L. M. Vissers, Joris A. Veltman, Christian Gilissen, Jayne Y. Hehir-Kwa, Djie Tjwan Thung, Genome sequencing identifies major causes of severe intellectual disability Nature. ,vol. 511, pp. 344- 347 ,(2014) , 10.1038/NATURE13394

Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Ryoko Fukai, Eri Imagawa, Chihiro Ohba, Ichiro Kuki, Megumi Nukui, Atsushi Araki, Yoshio Makita, Tsutomu Ogata, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto, Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach. Journal of Human Genetics. ,vol. 60, pp. 175- 182 ,(2015) , 10.1038/JHG.2014.124