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Volume 23; Issue 19
Main
Human Molecular Genetics
Volume 23; Issue 19
Human Molecular Genetics
Volume 23; Issue 19
1
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis
Buchan, J. G.
,
Alvarado, D. M.
,
Haller, G. E.
,
Cruchaga, C.
,
Harms, M. B.
,
Zhang, T.
,
Willing, M. C.
,
Grange, D. K.
,
Braverman, A. C.
,
Miller, N. H.
,
Morcuende, J. A.
,
Tang, N. L.-S.
,
Lam, T.-P.
,
Ng,
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 553 KB
Your tags:
english, 2014
2
Wide-scale alterations in interchromosomal organization in breast cancer cells: defining a network of interacting chromosomes
Fritz, A. J.
,
Stojkovic, B.
,
Ding, H.
,
Xu, J.
,
Bhattacharya, S.
,
Gaile, D.
,
Berezney, R.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 1.14 MB
Your tags:
english, 2014
3
The deubiquitinase USP15 antagonizes Parkin-mediated mitochondrial ubiquitination and mitophagy
Cornelissen, T.
,
Haddad, D.
,
Wauters, F.
,
Van Humbeeck, C.
,
Mandemakers, W.
,
Koentjoro, B.
,
Sue, C.
,
Gevaert, K.
,
De Strooper, B.
,
Verstreken, P.
,
Vandenberghe, W.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 1.11 MB
Your tags:
english, 2014
4
Expression QTL-based analyses reveal candidate causal genes and loci across five tumor types
Li, Q.
,
Stram, A.
,
Chen, C.
,
Kar, S.
,
Gayther, S.
,
Pharoah, P.
,
Haiman, C.
,
Stranger, B.
,
Kraft, P.
,
Freedman, M. L.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 310 KB
Your tags:
english, 2014
5
Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration
Yu, Y.
,
Triebwasser, M. P.
,
Wong, E. K. S.
,
Schramm, E. C.
,
Thomas, B.
,
Reynolds, R.
,
Mardis, E. R.
,
Atkinson, J. P.
,
Daly, M.
,
Raychaudhuri, S.
,
Kavanagh, D.
,
Seddon, J. M.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 641 KB
Your tags:
english, 2014
6
The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis
Zurita Rendon, O.
,
Silva Neiva, L.
,
Sasarman, F.
,
Shoubridge, E. A.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 857 KB
Your tags:
english, 2014
7
A genome-wide RNAi screen identifies potential drug targets in a C. elegans model of 1-antitrypsin deficiency
O'Reilly, L. P.
,
Long, O. S.
,
Cobanoglu, M. C.
,
Benson, J. A.
,
Luke, C. J.
,
Miedel, M. T.
,
Hale, P.
,
Perlmutter, D. H.
,
Bahar, I.
,
Silverman, G. A.
,
Pak, S. C.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 12.47 MB
Your tags:
english, 2014
8
Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration
Karlstetter, M.
,
Sorusch, N.
,
Caramoy, A.
,
Dannhausen, K.
,
Aslanidis, A.
,
Fauser, S.
,
Boesl, M. R.
,
Nagel-Wolfrum, K.
,
Tamm, E. R.
,
Jagle, H.
,
Stoehr, H.
,
Wolfrum, U.
,
Langmann, T.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 3.20 MB
Your tags:
english, 2014
9
Genome-wide interaction studies reveal sex-specific asthma risk alleles
Myers, R. A.
,
Scott, N. M.
,
Gauderman, W. J.
,
Qiu, W.
,
Mathias, R. A.
,
Romieu, I.
,
Levin, A. M.
,
Pino-Yanes, M.
,
Graves, P. E.
,
Villarreal, A. B.
,
Beaty, T. H.
,
Carey, V. J.
,
Croteau-Chonka, D. C.
,
de
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 225 KB
Your tags:
english, 2014
10
Post-GWAS gene-environment interplay in breast cancer: results from the Breast and Prostate Cancer Cohort Consortium and a meta-analysis on 79 000 women
Barrdahl, M.
,
Canzian, F.
,
Joshi, A. D.
,
Travis, R. C.
,
Chang-Claude, J.
,
Auer, P. L.
,
Gapstur, S. M.
,
Gaudet, M.
,
Diver, W. R.
,
Henderson, B. E.
,
Haiman, C. A.
,
Schumacher, F. R.
,
Le Marchand, L.
,
Be
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 310 KB
Your tags:
english, 2014
11
TDP-43 suppresses CGG repeat-induced neurotoxicity through interactions with HnRNP A2/B1
He, F.
,
Krans, A.
,
Freibaum, B. D.
,
Taylor, J. P.
,
Todd, P. K.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 2.06 MB
Your tags:
english, 2014
12
Impaired degradation of WNK1 and WNK4 kinases causes PHAII in mutant KLHL3 knock-in mice
Susa, K.
,
Sohara, E.
,
Rai, T.
,
Zeniya, M.
,
Mori, Y.
,
Mori, T.
,
Chiga, M.
,
Nomura, N.
,
Nishida, H.
,
Takahashi, D.
,
Isobe, K.
,
Inoue, Y.
,
Takeishi, K.
,
Takeda, N.
,
Sasaki, S.
,
Uchida, S.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 691 KB
Your tags:
english, 2014
13
Prdm1 functions in the mesoderm of the second heart field, where it interacts genetically with Tbx1, during outflow tract morphogenesis in the mouse embryo
Vincent, S. D.
,
Mayeuf-Louchart, A.
,
Watanabe, Y.
,
Brzezinski, J. A.
,
Miyagawa-Tomita, S.
,
Kelly, R. G.
,
Buckingham, M.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 1.83 MB
Your tags:
english, 2014
14
Disruption of myocardial Gata4 and Tbx5 results in defects in cardiomyocyte proliferation and atrioventricular septation
Misra, C.
,
Chang, S.-W.
,
Basu, M.
,
Huang, N.
,
Garg, V.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 2.17 MB
Your tags:
english, 2014
15
Abundant local interactions in the 4p16.1 region suggest functional mechanisms underlying SLC2A9 associations with human serum uric acid
Wei, W.-H.
,
Guo, Y.
,
Kindt, A. S. D.
,
Merriman, T. R.
,
Semple, C. A.
,
Wang, K.
,
Haley, C. S.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 300 KB
Your tags:
english, 2014
16
In vitro screen of prion disease susceptibility genes using the scrapie cell assay
Brown, C. A.
,
Schmidt, C.
,
Poulter, M.
,
Hummerich, H.
,
Klohn, P.-C.
,
Jat, P.
,
Mead, S.
,
Collinge, J.
,
Lloyd, S. E.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 115 KB
Your tags:
english, 2014
17
Cover Page
Journal:
Human Molecular Genetics
Year:
2014
File:
PDF, 349 KB
Your tags:
2014
18
A feed-forward mechanism involving Drosophila fragile X mental retardation protein triggers a replication stress-induced DNA damage response
Zhang, W.
,
Cheng, Y.
,
Li, Y.
,
Chen, Z.
,
Jin, P.
,
Chen, D.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 1.12 MB
Your tags:
english, 2014
19
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans
Sirisi, S.
,
Folgueira, M.
,
Lopez-Hernandez, T.
,
Minieri, L.
,
Perez-Rius, C.
,
Gaitan-Penas, H.
,
Zang, J.
,
Martinez, A.
,
Capdevila-Nortes, X.
,
De La Villa, P.
,
Roy, U.
,
Alia, A.
,
Neuhauss, S.
,
Ferroni,
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 2.60 MB
Your tags:
english, 2014
20
The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion
Dehainault, C.
,
Garancher, A.
,
Castera, L.
,
Cassoux, N.
,
Aerts, I.
,
Doz, F.
,
Desjardins, L.
,
Lumbroso, L.
,
Montes de Oca, R.
,
Almouzni, G.
,
Stoppa-Lyonnet, D.
,
Pouponnot, C.
,
Gauthier-Villars, M.
,
Hou
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 393 KB
Your tags:
english, 2014
21
Multistep process of FUS aggregation in the cell cytoplasm involves RNA-dependent and RNA-independent mechanisms
Shelkovnikova, T. A.
,
Robinson, H. K.
,
Southcombe, J. A.
,
Ninkina, N.
,
Buchman, V. L.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 2.62 MB
Your tags:
english, 2014
22
Subscription Page
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 31 KB
Your tags:
english, 2014
23
Contents Page
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 38 KB
Your tags:
english, 2014
24
Editorial Board
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 23 KB
Your tags:
english, 2014
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