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2017

This folder holds the following references to publications, sorted by year and author.

There are 14 references in this bibliography folder.

Borisov, O, Kulemin, N, Ahmetov, I, and Generozov, E (2018).
A Novel Multilocus Genetic Model Can Predict Muscle Fibers Composition
In: Advances in Intelligent Systems and Computing, vol. 663, pp. 164–168, Springer (ISBN: 9783319678450).

Beretta, S, Maj, C, and Merelli, I (2017).
Rank miRNA: A web tool for identifying polymorphisms altering miRNA target sites
Procedia Computer Science, 108(C):1125–1134.

Borisov, O and Generozov, E (2017).
An analysis of six pharmacogenomic association studies revealed significant correlation between allele frequency and corresponding odds ratios
Clinical Therapeutics, 39 (8 Supp(8):e89.

Ehmke, N, Graul-Neumann, L, Smorag, L, Koenig, R, Segebrecht, L, Magoulas, P, Scaglia, F, Kilic, E, Hennig, AF, Adolphs, N, Saha, N, Fauler, B, Kalscheuer, VM, Hennig, F, Altmüller, J, Netzer, C, Thiele, H, Nürnberg, P, Yigit, G, Jäger, M, Hecht, J, Krüger, U, Mielke, T, Krawitz, PM, Horn, D, Schuelke, M, Mundlos, S, Bacino, CA, Bonnen, PE, Wollnik, B, Fischer-Zirnsak, B, and Kornak, U (2017).
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
American Journal of Human Genetics, 101(5):833–843.

Heinrich, V, Kamphans, T, Mundlos, S, Robinson, PN, and Krawitz, PM (2017).
A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data
Bioinformatics, 33(1):72–78.

Maffioletti, E, Congiu, C, Bonvicini, C, Maj, C, Minelli, A, Bortolomasi, M, Maina, G, Bocchio-Chiavetto, L, and Gennarelli, M (2017).
Study of Microrna-Related Single-Nucleotide Polymorphisms in Major Depressive Disorder
In: European Neuropsychopharmacology, vol. 27, pp. S212—-S213, ELSEVIER SCIENCE BV PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS.

Maffioletti, E, Salvi, A, Conde, I, Maj, C, Gennarelli, M, De Petro, G, and Bocchio-Chiavetto, L (2017).
Study of the in vitro modulation exerted by the antidepressant drug escitalopram on the expression of candidate microRNAs and their target genes.
Molecular and cellular neurosciences, 85:220–225.

Milanesi, E, Voinsky, I, Hadar, A, Maj, C, Kelsoe, JR, Shekhtman, T, Zandi, P, Goes, F, Potash, JB, Greshovits, M, Gilad, S, Gennarelli, M, Schulze, TG, and Gurwitz, D (2017).
RNA-Sequencing of Bipolar Disorder Patients Lymphoblastoid Cell Lines Implicates A Novel Neurotrophic Factor In The Efficacy of Lithium As Mood Stabilizing Drug
European Neuropsychopharmacology, 27:S391–S392.

Milanesi, E, Voinsky, I, Hadar, A, Srouji, A, Maj, C, Shekhtman, T, Gershovits, M, Gilad, S, Chillotti, C, Squassina, A, Potash, JB, Schulze, TG, Goes, FS, Zandi, P, Kelsoe, JR, and Gurwitz, D (2017).
RNA sequencing of bipolar disorder lymphoblastoid cell lines implicates the neurotrophic factor HRP-3 in lithium's clinical efficacy
World Journal of Biological Psychiatry:1–13.

Spielmann, M, Hernandez-Miranda, LR, Ceccherini, I, Weese-Mayer, DE, Kragesteen, BK, Harabula, I, Krawitz, P, Birchmeier, C, Leonard, N, and Mundlos, S (2017).
Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction
Journal of Medical Genetics, 54(11):754–761.

Türkmen, S, Spielmann, M, Güneş, N, Knaus, A, Flöttmann, R, Mundlos, S, and Tüysüz, B (2017).
A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia
Molecular Syndromology, 8(6):318–324.

Witzel, M, Petersheim, D, Fan, Y, Bahrami, E, Racek, T, Rohlfs, M, Puchałka, J, Mertes, C, Gagneur, J, Ziegenhain, C, Enard, W, Stray-Pedersen, A, Arkwright, PD, Abboud, MR, Pazhakh, V, Lieschke, GJ, Krawitz, PM, Dahlhoff, M, Schneider, MR, Wolf, E, Horny, HP, Schmidt, H, Schäffer, AA, and Klein, C (2017).
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes
Nature Genetics, 49(5):742–752.

Zhao, JJ, Halvardson, J, Knaus, A, Georgii-Hemming, P, Baeck, P, Krawitz, PM, Thuresson, AC, and Feuk, L (2017).
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function
Human Mutation, 38(10):1394–1401.

Borisov, O, Babalyan, K, Kulemin, N, and Generozov, E ().
Estimating the correlation between the accuracy of simulation-based genetic risk modelling and its principal prediction parameters interrelationship
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