Volume 134; Issue 1

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Human Genetics
Volume 134; Issue 1

Human Genetics

Volume 134; Issue 1

1

Using drug response data to identify molecular effectors, and molecular “omic” data to identify candidate drugs in cancer

Reinhold, William C., Varma, Sudhir, Rajapakse, Vinodh N., Luna, Augustin, Sousa, Fabricio Garmus, Kohn, Kurt W., Pommier, Yves G.

Journal:

Year:

2015

Language:

english

File:

PDF, 291 KB

english, 2015

2

Bayesian variable selection for hierarchical gene–environment and gene–gene interactions

Liu, Changlu, Ma, Jianzhong, Amos, Christopher I.

Journal:

Year:

2015

Language:

english

File:

PDF, 898 KB

english, 2015

3

De novo mutations inbeta-catenin (CTNNB1)appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

Kuechler, Alma, Willemsen, Marjolein H., Albrecht, Beate, Bacino, Carlos A., Bartholomew, Dennis W., van Bokhoven, Hans, van den Boogaard, Marie Jose H., Bramswig, Nuria, Büttner, Christian, Cremer, K

Journal:

Year:

2015

Language:

english

File:

PDF, 698 KB

english, 2015

4

A single codon insertion in thePICALMgene is not associated with subvalvular aortic stenosis in Newfoundland dogs

Drögemüller, Michaela, Jagannathan, Vidhya, Dolf, Gaudenz, Butenhoff, Karin, Kottmann-Berger, Suzanne, Wess, Gerhard, Leeb, Tosso

Journal:

Year:

2015

Language:

english

File:

PDF, 186 KB

english, 2015

5

Refinement of schizophrenia GWAS loci using methylome-wide association data

Kumar, Gaurav, Clark, Shaunna L., McClay, Joseph L., Shabalin, Andrey A., Adkins, Daniel E., Xie, Linying, Chan, Robin, Nerella, Srilaxmi, Kim, Yunjung, Sullivan, Patrick F., Hultman, Christina M., Ma

Journal:

Year:

2015

Language:

english

File:

PDF, 3.22 MB

english, 2015

6

DUF1220 copy number is linearly associated with increased cognitive function as measured by total IQ and mathematical aptitude scores

Davis, Jonathon M., Searles, Veronica B., Anderson, Nathan, Keeney, Jonathon, Raznahan, Armin, Horwood, L. John, Fergusson, David M., Kennedy, Martin A., Giedd, Jay, Sikela, James M.

Journal:

Year:

2015

Language:

english

File:

PDF, 276 KB

english, 2015

7

G-quadruplex formation enhances splicing efficiency ofPAX9intron 1

Ribeiro, Mariana Martins, Teixeira, Gleidson Silva, Martins, Luciane, Marques, Marcelo Rocha, de Souza, Ana Paula, Line, Sergio Roberto Peres

Journal:

Year:

2015

Language:

english

File:

PDF, 1.03 MB

english, 2015

8

Mitochondrial dysfunction in schizophrenia: an evolutionary perspective

Gonçalves, Vanessa F., Andreazza, Ana C., Kennedy, James L.

Journal:

Year:

2015

Language:

english

File:

PDF, 349 KB

english, 2015

9

Oral-facial-digital syndrome type VI: isC5orf42really the major gene?

Romani, Marta, Mancini, Francesca, Micalizzi, Alessia, Poretti, Andrea, Miccinilli, Elide, Accorsi, Patrizia, Avola, Emanuela, Bertini, Enrico, Borgatti, Renato, Romaniello, Romina, Ceylaner, Serdar,

Journal:

Year:

2015

Language:

english

File:

PDF, 354 KB

english, 2015

10

Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt)

Sikora, Jacquelyn L., Logue, Mark W., Chan, Gloria G., Spencer, Brian H., Prokaeva, Tatiana B., Baldwin, Clinton T., Seldin, David C., Connors, Lawreen H.

Journal:

Year:

2015

Language:

english

File:

PDF, 1.02 MB

english, 2015

11

The role of linkage disequilibrium in case-only studies of gene–environment interactions

Yadav, Pankaj, Freitag-Wolf, Sandra, Lieb, Wolfgang, Krawczak, Michael

Journal:

Year:

2015

Language:

english

File:

PDF, 392 KB

english, 2015

12

Detection ofSQSTM1/P392Lpost-zygotic mutations in Paget’s disease of bone

Guay-Bélanger, Sabrina, Picard, Sylvain, Gagnon, Edith, Morissette, Jean, Siris, Ethel S., Orcel, Philippe, Brown, Jacques P., Michou, Laëtitia

Journal:

Year:

2015

Language:

english

File:

PDF, 782 KB

english, 2015

13

STILmutation causes autosomal recessive microcephalic lobar holoprosencephaly

Kakar, Naseebullah, Ahmad, Jamil, Morris-Rosendahl, Deborah J., Altmüller, Janine, Friedrich, Katrin, Barbi, Gotthold, Nürnberg, Peter, Kubisch, Christian, Dobyns, William B., Borck, Guntram

Journal:

Year:

2015

Language:

english

File:

PDF, 2.32 MB

english, 2015

14

A Changing of the Guard atHuman Genetics

Journal:

Year:

2015

Language:

english

File:

PDF, 100 KB

english, 2015

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