@article {:2012:0964-6906:C1, title = "Contents Page", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "C1-C1", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00001", doi = "doi:10.1093/hmg/dds150" } @article {:2012:0964-6906:C1, title = "Cover Page", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "C1-C1", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00002", doi = "doi:10.1093/hmg/dds151" } @article {:2012:0964-6906:C1, title = "Editorial Board", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "C1-C1", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00003", doi = "doi:10.1093/hmg/dds152" } @article {:2012:0964-6906:C1, title = "Subscription Page", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "C1-C1", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00004", doi = "doi:10.1093/hmg/dds153" } @article {Fernandez Alanis:2012:0964-6906:2389, author = "Fernandez Alanis, Eugenio and Pinotti, Mirko and Dal Mas, Andrea and Balestra, Dario and Cavallari, Nicola and Rogalska, Malgorzata E. and Bernardi, Francesco and Pagani, Franco", title = "An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2389-2398", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00005", doi = "doi:10.1093/hmg/dds045" } @article {Woods:2012:0964-6906:2399, author = "Woods, Rima and Vallero, Roxanne O. and Golub, Mari S. and Suarez, Joanne K. and Ta, Tram Anh and Yasui, Dag H. and Chi, Lai-Har and Kostyniak, Paul J. and Pessah, Isaac N. and Berman, Robert F. and LaSalle, Janine M.", title = "Long-lived epigenetic interactions between perinatal PBDE exposure and Mecp2308 mutation", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2399-2411", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00006", doi = "doi:10.1093/hmg/dds046" } @article {Herdewyn:2012:0964-6906:2412, author = "Herdewyn, Sarah and Zhao, Hui and Moisse, Matthieu and Race, Valerie and Matthijs, Gert and Reumers, Joke and Kusters, Benno and Schelhaas, Helenius J. and van den Berg, Leonard H. and Goris, An and Robberecht, Wim and Lambrechts, Diether and Van Damme, Philip", title = "Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2412-2419", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00007", doi = "doi:10.1093/hmg/dds055" } @article {Daher:2012:0964-6906:2420, author = "Daher, Joao Paulo L. and Pletnikova, Olga and Biskup, Saskia and Musso, Alessandra and Gellhaar, Sandra and Galter, Dagmar and Troncoso, Juan C. and Lee, Michael K. and Dawson, Ted M. and Dawson, Valina L. and Moore, Darren J.", title = "Neurodegenerative phenotypes in an A53T -synuclein transgenic mouse model are independent of LRRK2", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2420-2431", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00008", doi = "doi:10.1093/hmg/dds057" } @article {Sancenon:2012:0964-6906:2432, author = "Sancenon, Vicente and Lee, Sue-Ann and Patrick, Christina and Griffith, Janice and Paulino, Amy and Outeiro, Tiago F. and Reggiori, Fulvio and Masliah, Eliezer and Muchowski, Paul J.", title = "Suppression of -synuclein toxicity and vesicle trafficking defects by phosphorylation at S129 in yeast depends on genetic context", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2432-2449", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00009", doi = "doi:10.1093/hmg/dds058" } @article {Higham:2012:0964-6906:2450, author = "Higham, Catherine F. and Morales, Fernando and Cobbold, Christina A. and Haydon, Daniel T. and Monckton, Darren G.", title = "High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2450-2463", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00010", doi = "doi:10.1093/hmg/dds059" } @article {Brison:2012:0964-6906:2464, author = "Brison, Nathalie and Debeer, Philippe and Fantini, Sebastian and Oley, Christine and Zappavigna, Vincenzo and Luyten, Frank P. and Tylzanowski, Przemko", title = "An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2464-2475", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00011", doi = "doi:10.1093/hmg/dds060" } @article {Adhikari:2012:0964-6906:2476, author = "Adhikari, Deepak and Zheng, Wenjing and Shen, Yan and Gorre, Nagaraju and Ning, Yao and Halet, Guillaume and Kaldis, Philipp and Liu, Kui", title = "Cdk1, but not Cdk2, is the sole Cdk that is essential and sufficient to drive resumption of meiosis in mouse oocytes", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2476-2484", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00012", doi = "doi:10.1093/hmg/dds061" } @article {Pane:2012:0964-6906:2485, author = "Pane, Luna Simona and Zhang, Zhen and Ferrentino, Rosa and Huynh, Tuong and Cutillo, Luisa and Baldini, Antonio", title = "Tbx1 is a negative modulator of Mef2c", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2485-2496", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00013", doi = "doi:10.1093/hmg/dds063" } @article {Blauw:2012:0964-6906:2497, author = "Blauw, Hylke M. and van Rheenen, Wouter and Koppers, Max and Van Damme, Philip and Waibel, Stefan and Lemmens, Robin and van Vught, Paul W. J. and Meyer, Thomas and Schulte, Claudia and Gasser, Thomas and Cuppen, Edwin and Pasterkamp, R. Jeroen and Robberecht, Wim and Ludolph, Albert C. and Veldink, Jan H. and van den Berg, Leonard H.", title = "NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2497-2502", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00014", doi = "doi:10.1093/hmg/dds064" } @article {Mugniery:2012:0964-6906:2503, author = "Mugniery, Emilie and Dacquin, Romain and Marty, Caroline and Benoist-Lasselin, Catherine and de Vernejoul, Marie-Christine and Jurdic, Pierre and Munnich, Arnold and Geoffroy, Valerie and Legeai-Mallet, Laurence", title = "An activating Fgfr3 mutation affects trabecular bone formation via a paracrine mechanism during growth", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2503-2513", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00015", doi = "doi:10.1093/hmg/dds065" } @article {Choo:2012:0964-6906:2514, author = "Choo, Yeun Su and Vogler, Georg and Wang, Danling and Kalvakuri, Sreehari and Iliuk, Anton and Tao, W. Andy and Bodmer, Rolf and Zhang, Zhuohua", title = "Regulation of parkin and PINK1 by neddylation", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2514-2523", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00016", doi = "doi:10.1093/hmg/dds070" } @article {Funato:2012:0964-6906:2524, author = "Funato, Noriko and Nakamura, Masataka and Richardson, James A. and Srivastava, Deepak and Yanagisawa, Hiromi", title = "Tbx1 regulates oral epithelial adhesion and palatal development", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2524-2537", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00017", doi = "doi:10.1093/hmg/dds071" } @article {Manczak:2012:0964-6906:2538, author = "Manczak, Maria and Reddy, P. Hemachandra", title = "Abnormal interaction between the mitochondrial fission protein Drp1 and hyperphosphorylated tau in Alzheimer's disease neurons: implications for mitochondrial dysfunction and neuronal damage", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2538-2547", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00018", doi = "doi:10.1093/hmg/dds072" } @article {Nasim:2012:0964-6906:2548, author = "Nasim, Md Talat and Ogo, Takeshi and Chowdhury, Hasnin M. and Zhao, Lan and Chen, Chien-nien and Rhodes, Christopher and Trembath, Richard C.", title = "BMPR-II deficiency elicits pro-proliferative and anti-apoptotic responses through the activation of TGF-TAK1-MAPK pathways in PAH", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2548-2558", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00019", doi = "doi:10.1093/hmg/dds073" } @article {Goyenvalle:2012:0964-6906:2559, author = "Goyenvalle, Aurelie and Babbs, Arran and Wright, Jordan and Wilkins, Vivienne and Powell, Dave and Garcia, Luis and Davies, Kay E.", title = "Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2559-2571", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00020", doi = "doi:10.1093/hmg/dds082" } @article {Baradaran-Heravi:2012:0964-6906:2572, author = "Baradaran-Heravi, Alireza and Cho, Kyoung Sang and Tolhuis, Bas and Sanyal, Mrinmoy and Morozova, Olena and Morimoto, Marie and Elizondo, Leah I. and Bridgewater, Darren and Lubieniecka, Joanna and Beirnes, Kimberly and Myung, Clara and Leung, Danny and Fam, Hok Khim and Choi, Kunho and Huang, Yan and Dionis, Kira Y. and Zonana, Jonathan and Keller, Kory and Stenzel, Peter and Mayfield, Christy and Lucke, Thomas and Bokenkamp, Arend and Marra, Marco A. and van Lohuizen, Maarten and Lewis, David B. and Shaw, Chad and Boerkoel, Cornelius F.", title = "Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2572-2587", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00021", doi = "doi:10.1093/hmg/dds083" } @article {Zheng:2012:0964-6906:2588, author = "Zheng, Qing Yin and Scarborough, John D. and Zheng, Ye and Yu, Heping and Choi, Dongseok and Gillespie, Peter G.", title = "Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2588-2598", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00022", doi = "doi:10.1093/hmg/dds084" } @article {Matthes:2012:0964-6906:2599, author = "Matthes, Frank and Stroobants, Stijn and Gerlach, Debora and Wohlenberg, Claudia and Wessig, Carsten and Fogh, Jens and Gieselmann, Volkmar and Eckhardt, Matthias and D'Hooge, Rudi and Matzner, Ulrich", title = "Efficacy of enzyme replacement therapy in an aggravated mouse model of metachromatic leukodystrophy declines with age", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2599-2609", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00023", doi = "doi:10.1093/hmg/dds086" } @article {Lin:2012:0964-6906:2610, author = "Lin, Xiaoling and Lu, Daru and Gao, Yong and Tao, Sha and Yang, Xiaobo and Feng, Junjie and Tan, Aihua and Zhang, Haiying and Hu, Yanling and Qin, Xue and Kim, Seong-Tae and Peng, Tao and Li, Li and Mo, Linjian and Zhang, Shijun and Trent, Jeffrey M. and Mo, Zengnan and Zheng, S. Lilly and Xu, Jianfeng and Sun, Jielin", title = "Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2610-2617", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00024", doi = "doi:10.1093/hmg/dds062" } @article {Huang:2012:0964-6906:2618, author = "Huang, Hsiang-Po and Chen, Pin-Hsun and Hwu, Wuh-Liang and Chuang, Ching-Yu and Chien, Yin-Hsiu and Stone, Lee and Chien, Chung-Liang and Li, Li-Tzu and Chiang, Shu-Chuan and Chen, Hsin-Fu and Ho, Hong-Nerng and Chen, Chung-Hsuan and Kuo, Hung-Chih", title = "Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification", journal = "Human Molecular Genetics", volume = "21", number = "11", year = "2012", pages = "2618-2618", url = "http://www.ingentaconnect.com/content/oup/hmg/2012/00000021/00000011/art00025", doi = "doi:10.1093/hmg/dds085" }