Department of Computational Biology

Publications | Phd and Masters theses

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799 publications

... | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | ...
2018
Decline of genetic diversity in ancient domestic stallions in Europe.
Wutke S., Sandoval-Castellanos E., Benecke N., Döhle H.J., Friederich S., Gonzalez J., Hofreiter M., Lõugas L., Magnell O., Malaspinas A.S. et al., 2018. Science Advances, 4 (4) pp. eaap9691. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_BD64E7EF0115]
Developmental transcriptomics of the brittle star Amphiura filiformis reveals gene regulatory network rewiring in echinoderm larval skeleton evolution.
Dylus D.V., Czarkwiani A., Blowes L.M., Elphick M.R., Oliveri P., 2018. Genome Biology, 19 (1) p. 26. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_5D37F76F22D0]
Embracing polygenicity: a review of methods and tools for psychiatric genetics research.
Maier R.M., Visscher P.M., Robinson M.R., Wray N.R., 2018. Psychological Medicine, 48 (7) pp. 1055-1067. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_7E2AD99A9204]
 
Evolution of the sabertooth mandible: A deadly ecomorphological specialization
Piras P., Silvestro D., Carotenuto F., Castiglione S., Kotsakis A., Maiorino L., Melchionna M., Mondanaro A., Sansalone G., Serio C. et al., 2018. Palaeogeography, Palaeoclimatology, Palaeoecology, 496 pp. 166-174. Peer-reviewed.
[DOI][WoS][serval:BIB_0C070429A323]
First draft genome of an iconic clownfish species (Amphiprion frenatus).
Marcionetti A., Rossier V., Bertrand JAM, Litsios G., Salamin N., 2018. Molecular Ecology Resources, 18 (5) pp. 1092-1101. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_DAA95EEF7AB3]
Gearing up to handle the mosaic nature of life in the quest for orthologs.
Forslund K., Pereira C., Capella-Gutierrez S., Sousa da Silva A., Altenhoff A., Huerta-Cepas J., Muffato M., Patricio M., Vandepoele K., Ebersberger I. et al., 2018. Bioinformatics, 34 (2) pp. 323-329. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_D31584E0556C]
 
Genome-Wide Meta-Analysis Unravels Interactions between Magnesium Homeostasis and Metabolic Phenotypes.
Corre T., Arjona F.J., Hayward C., Youhanna S., de Baaij JHF, Belge H., Nägele N., Debaix H., Blanchard M.G., Traglia M. et al., 2018/01. Journal of the American Society of Nephrology, 29 (1) pp. 335-348. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E9CC84D13755]
Genomic insights into the origin and diversification of late maritime hunter-gatherers from the Chilean Patagonia.
de la Fuente C., Ávila-Arcos M.C., Galimany J., Carpenter M.L., Homburger J.R., Blanco A., Contreras P., Cruz Dávalos D., Reyes O., San Roman M. et al., 2018. Proceedings of the National Academy of Sciences of the United States of America, 115 (17) pp. E4006-E4012. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_603BEE9432CE]
GOATOOLS: A Python library for Gene Ontology analyses.
Klopfenstein D.V., Zhang L., Pedersen B.S., Ramírez F., Warwick Vesztrocy A., Naldi A., Mungall C.J., Yunes J.M., Botvinnik O., Weigel M. et al., 2018. Scientific Reports, 8 (1) p. 10872. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_179FA8832883]
 
Howling from the past: historical phylogeography and diversity losses in European grey wolves.
Dufresnes C., Miquel C., Remollino N., Biollaz F., Salamin N., Taberlet P., Fumagalli L., 2018. Proceedings of the Royal Society B. Biological Sciences, 285 (1884) p. 20181148. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_78512079E9C4]
Human bony labyrinth is an indicator of population history and dispersal from Africa.
Ponce de León M.S., Koesbardiati T., Weissmann J.D., Milella M., Reyna-Blanco C.S., Suwa G., Kondo O., Malaspinas A.S., White T.D., Zollikofer CPE, 2018. Proceedings of the National Academy of Sciences of the United States of America, 115 (16) pp. 4128-4133. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_00B4361FE936]
Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.
Astuti GDN, van den Born L.I., Khan M.I., Hamel C.P., Bocquet B., Manes G., Quinodoz M., Ali M., Toomes C., McKibbin M. et al., 2018. Genes, 9 (1) pp. E21. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_F1EC7A263AF1]
Improving spatial predictions of taxonomic, functional and phylogenetic diversity
D'Amen M., Mateo R.G., Pottier J., Thuiller W., Maiorano L., Pellissier L., Ndiribe C., Salamin N., Guisan A., 2018. Journal of Ecology, 106 (1) pp. 76-86. Peer-reviewed.
[URN][DOI][WoS][serval:BIB_574B39D33520]
Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.
Way G.P., Sanchez-Vega F., La K., Armenia J., Chatila W.K., Luna A., Sander C., Cherniack A.D., Mina M., Ciriello G. et al., 2018. Cell Reports, 23 (1) pp. 172-180.e3. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C45257D74D13]
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
Feitosa M.F., Kraja A.T., Chasman D.I., Sung Y.J., Winkler T.W., Ntalla I., Guo X., Franceschini N., Cheng C.Y., Sim X. et al., 2018. PloS one, 13 (6) pp. e0198166. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_FC7DB3103C3C]
 
Predation drives local adaptation of phenotypic plasticity.
Reger J., Lind M.I., Robinson M.R., Beckerman A.P., 2018/01. Nature ecology & evolution, 2 (1) pp. 100-107. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2AFB98100AAE]
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Turcot V., Lu Y., Highland H.M., Schurmann C., Justice A.E., Fine R.S., Bradfield J.P., Esko T., Giri A., Graff M. et al., 2018/01. Nature genetics, 50 (1) pp. 26-41. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_37FAA1DECECC]
Publisher Correction: The impact of endothermy on the climatic niche evolution and the distribution of vertebrate diversity.
Rolland J., Silvestro D., Schluter D., Guisan A., Broenniman O., Salamin N., 2018. Nature Ecology & Evolution, 2 (3) p. 578. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_5A2DADC0C319]
 
Sequence variation in melanocortin-1-receptor and tyrosinase-related protein 1 genes and their relationship with melanin-based plumage trait expression in Lesser Kestrel (Falco naumanni) males
Corti M., Podofillini S., Griggio M., Gianfranceschi L., Ducrest A.-L., Roulin A., Cecere J.G., Saino N., Rubolini D., 2018. Journal of Ornithology, 159 (2) pp. 587-591. Peer-reviewed.
[DOI][WoS][serval:BIB_B0D4650567C0]
Species divergence and maintenance of species cohesion of three closely related Primula species in the Qinghai-Tibet Plateau
Ren G., Mateo R.G., Guisan A., Conti E., Salamin N., 2018. Journal of Biogeography, 45 (11) pp. 2495-2507. Peer-reviewed.
[URN][DOI][WoS][serval:BIB_38EC30FD92E5]
Submit a Topic Page to PLOS Computational Biology and Wikipedia.
Mietchen D., Wodak S., Wasik S., Szostak N., Dessimoz C., 2018. PLoS Computational Biology, 14 (5) pp. e1006137. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_44F587EDD0AF]
 
The prehistoric peopling of Southeast Asia.
McColl H., Racimo F., Vinner L., Demeter F., Gakuhari T., Moreno-Mayar J.V., van Driem G., Gram Wilken U., Seguin-Orlando A., de la Fuente Castro C. et al., 2018. Science, 361 (6397) pp. 88-92. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_69332F683F70]
2017
Major histocompatibility complex-linked social signalling affects female fertility.
Burger D., Thomas S., Aepli H., Dreyer M., Fabre G., Marti E., Sieme H., Robinson M.R., Wedekind C., 2017/12/06. Proceedings. Biological sciences, 284 (1868) p. 20171824. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_30EE7C2B84F4]
Selection on the Major Color Gene Melanocortin-1-Receptor Shaped the Evolution of the Melanocortin System Genes.
Dib L., San-Jose L.M., Ducrest A.L., Salamin N., Roulin A., 2017/12/05. International journal of molecular sciences, 18 (12) pp. NA. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_05CA0CC7D793]
 
A genome-wide association study for shared risk across major psychiatric disorders in a nation-wide birth cohort implicates fetal neurodevelopment as a key mediator
Schork AJ, Won H, Appadurai V, Nudel R, Gandal M, Delaneau O, Hougaard DM, Bækved-Hansen M, Bybjerg-Grauholm J, Giørtz Pedersen M et al., 2017/12..
[DOI][serval:BIB_9AB0DFAF5FA4]
Leveraging logical rules for efficacious representation of large orthology datasets
Mendes de Farias Tarcisio, Chiba Hirokazu, Fernández-Breis Jesualdo T. (eds.), 2017/12/01..
[URN][serval:BIB_8D8E82340A71]
Metabomatching: Using genetic association to identify metabolites in proton NMR spectroscopy.
Rueedi R., Mallol R., Raffler J., Lamparter D., Friedrich N., Vollenweider P., Waeber G., Kastenmüller G., Kutalik Z., Bergmann S., 2017/12. PLoS computational biology, 13 (12) pp. e1005839. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C001C1DFA970]
Allele-Specific HLA Loss and Immune Escape in Lung Cancer Evolution.
McGranahan N., Rosenthal R., Hiley C.T., Rowan A.J., Watkins TBK, Wilson G.A., Birkbak N.J., Veeriah S., Van Loo P., Herrero J. et al., 2017/11/30. Cell, 171 (6) pp. 1259-1271.e11. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_FAC182E4CFA0]
 
Tolerance of high and low amounts of PLGA microspheres loaded with mineralocorticoid receptor antagonist in retinal target site.
Zhao M., Rodríguez-Villagra E., Kowalczuk L., Le Normand M., Berdugo M., Levy-Boukris R., El Zaoui I., Kaufmann B., Gurny R., Bravo-Osuna I. et al., 2017/11/28. Journal of controlled release, 266 pp. 187-197. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5E171AD9A5F4]
 
Getting Nervous: An Evolutionary Overhaul for Communication.
Varoqueaux F., Fasshauer D., 2017/11/27. Annual review of genetics, 51 pp. 455-476. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_562D42148454]
 
Germline determinants of the somatic mutation landscape in 2,642 cancer genomes
Waszak SM, Tiao G, Zhu B, Rausch T, Muyas F, Rodríguez-Martín B, Rabionet R, Yakneen S, Escaramis G, Li Y et al., 2017/11..
[DOI][serval:BIB_9DDAA597CB4F]
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.
Quinodoz M., Royer-Bertrand B., Cisarova K., Di Gioia S.A., Superti-Furga A., Rivolta C., 2017/10/05. American journal of human genetics, 101 (4) pp. 623-629. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_5037815084FE]
Co-expression networks reveal the tissue-specific regulation of transcription and splicing.
Saha A, Kim Y, Gewirtz ADH, Jo B, Gao C, McDowell IC, GTEx Consortium, Engelhardt BE, Battle A, 2017/10. Genome research.
[URN][DOI][Pmid][serval:BIB_15E0B1D42285]
 
Estimating the causal tissues for complex traits and diseases.
Ongen H, Brown AA, Delaneau O, Panousis NI, Nica AC, GTEx Consortium, Dermitzakis ET, 2017/10. Nature genetics.
[DOI][Pmid][serval:BIB_D07060724696]
Genetic effects on gene expression across human tissues.
GTEx Consortium, Laboratory, Data Analysis &Coordinating Center (LDACC)-Analysis Working Group, Statistical Methods groups-Analysis Working Group, Montgomery SB, 2017/10. Nature.
[URN][DOI][Pmid][serval:BIB_5FF3B6E2A7A9]
Hidden heritability due to heterogeneity across seven populations.
Robinson Matthew, 2017/10. Nature human behaviour.
[URN][DOI][Pmid][serval:BIB_8195CFB09558]
Identifying cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis.
Yang F, Wang J, GTEx Consortium, Pierce BL, Chen LS, 2017/10. Genome research.
[URN][DOI][Pmid][serval:BIB_5D04043BB3C1]
 
Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues.
Brown AA, Viñuela A, Delaneau O, Spector TD, Small KS, Dermitzakis ET, 2017/10. Nature genetics.
[DOI][Pmid][serval:BIB_17ADA1494CED]
The impact of rare variation on gene expression across tissues.
Li X, Kim Y, Tsang EK, Davis JR, Damani FN, Chiang C, Hess GT, Zappala Z, Strober BJ, Scott AJ et al., 2017/10. Nature.
[URN][DOI][Pmid][serval:BIB_C1954507B8A9]
Taxon sampling unequally affects individual nodes in a phylogenetic tree: consequences for model gene tree construction in SwissTree
Boeckmann Brigitte, Dylus David, Moretti Sebastien, Altenhoff Adrian, Train Clement-Marie, Kriventseva Evgenia, Bougueleret Lydie, Xenarios Ioannis, Privman Eyal, Gabaldon Toni et al., 2017/09/05..
[URN][DOI][serval:BIB_7579ACF1CAEA]
A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms.
Mack S., Coassin S., Rueedi R., Yousri N.A., Seppälä I., Gieger C., Schönherr S., Forer L., Erhart G., Marques-Vidal P. et al., 2017/09. Journal of lipid research, 58 (9) pp. 1834-1844. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_5A3A28A604C2]
 
Lessons Learned: Recommendations for Establishing Critical Periodic Scientific Benchmarking
Salvador Capella-Gutierrez, Diana de la Iglesia, Juergen Haas, Analia Lourenco, José María Fernández, Dmitry Repchevsky, Christophe Dessimoz, Torsten Schwede, Cedric Notredame, Josep Ll Gelpi et al., 2017/08/31..
[DOI][serval:BIB_80A8E1F89C47]
 
High Rate of Protein Coding Sequence Evolution and Species Diversification in the Lycaenids
Pellissier Loïc, Kostikova Anna, Litsios Glenn, Salamin Nicolas, Alvarez Nadir, 2017/08/23. Frontiers in Ecology and Evolution, 5.
[DOI][serval:BIB_786E9C9B2A12]
 
Conditional Selection of Genomic Alterations Dictates Cancer Evolution and Oncogenic Dependencies.
Mina M., Raynaud F., Tavernari D., Battistello E., Sungalee S., Saghafinia S., Laessle T., Sanchez-Vega F., Schultz N., Oricchio E. et al., 2017/08/14. Cancer cell, 32 (2) pp. 155-168.e6. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3E74CBFB8328]
 
Detection and quantification of inbreeding depression for complex traits from SNP data.
Yengo L., Zhu Z., Wray N.R., Weir B.S., Yang J., Robinson M.R., Visscher P.M., 2017/08/08. Proceedings of the National Academy of Sciences of the United States of America, 114 (32) pp. 8602-8607. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7865A5973F0A]
 
PD-L1 Is a Therapeutic Target of the Bromodomain Inhibitor JQ1 and, Combined with HLA Class I, a Promising Prognostic Biomarker in Neuroblastoma.
Melaiu O., Mina M., Chierici M., Boldrini R., Jurman G., Romania P., D'Alicandro V., Benedetti M.C., Castellano A., Liu T. et al., 2017/08/01. Clinical cancer research, 23 (15) pp. 4462-4472. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5ABCC0C44EDC]
 
The Pliocene marine megafauna extinction and its impact on functional diversity.
Pimiento C., Griffin J.N., Clements C.F., Silvestro D., Varela S., Uhen M.D., Jaramillo C., 2017/08. Nature ecology & evolution, 1 (8) pp. 1100-1106. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7AF0F8A936BB]
 
Causal associations between risk factors and common diseases inferred from GWAS summary data
Zhihong Zhu, Zhili Zheng, Futao Zhang, Yang Wu, Maciej Trzaskowski, Robert Maier, Matthew Robinson, John McGrath, Peter Visscher, Naomi Wray et al., 2017/07..
[DOI][serval:BIB_3AEF5F72C1C2]
Recent origin and rapid speciation of Neotropical orchids in the world's richest plant biodiversity hotspot.
Pérez-Escobar O.A., Chomicki G., Condamine F.L., Karremans A.P., Bogarín D., Matzke N.J., Silvestro D., Antonelli A., 2017/07. The New phytologist, 215 (2) pp. 891-905. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_9B0431F4A001]
 
Genetic and epigenetic inactivation of SESTRIN1 controls mTORC1 and response to EZH2 inhibition in follicular lymphoma.
Oricchio E., Katanayeva N., Donaldson M.C., Sungalee S., Pasion J.P., Béguelin W., Battistello E., Sanghvi V.R., Jiang M., Jiang Y. et al., 2017/06/28. Science translational medicine, 9 (396) pp. 1-10. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6C1BB5F656C6]
 
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.
Day F.R., Thompson D.J., Helgason H., Chasman D.I., Finucane H., Sulem P., Ruth K.S., Whalen S., Sarkar A.K., Albrecht E. et al., 2017/06. Nature genetics, 49 (6) pp. 834-841. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_B4D0ABB2E939]
 
MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets.
Fort A, Panousis NI, Garieri M, Antonarakis SE, Lappalainen T, Dermitzakis ET, Delaneau O, 2017/06. Bioinformatics (Oxford, England).
[DOI][Pmid][serval:BIB_EEA33F69680F]
One Year Genome Evolution of Lausannevirus in Allopatric versus Sympatric Conditions.
Mueller L., Bertelli C., Pillonel T., Salamin N., Greub G., 2017/06/01. Genome biology and evolution, 9 (6) pp. 1432-1449. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_BF5DFD01F732]
 
Tracking the Evolution of Non-Small-Cell Lung Cancer.
Jamal-Hanjani M., Wilson G.A., McGranahan N., Birkbak N.J., Watkins TBK, Veeriah S., Shafi S., Johnson D.H., Mitter R., Rosenthal R. et al., 2017/06/01. The New England journal of medicine, 376 (22) pp. 2109-2121. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_B5C92AE7BF35]
 
Widespread signatures of negative selection in the genetic architecture of human complex traits
Jian Zeng, Ronald de Vlaming, Yang Wu, Matthew Robinson, Luke Lloyd-Jones, Loic Yengo, Chloe Yap, Angli Xue, Julia Sidorenko, Allan McRae et al., 2017/06..
[DOI][serval:BIB_00DC3728CBCC]
Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution
Abbosh Christopher, Birkbak Nicolai J., Wilson Gareth A., Jamal-Hanjani Mariam, Constantin Tudor, Salari Raheleh, Le Quesne John, Moore David A., Veeriah Selvaraju, Rosenthal Rachel et al., 2017/05/25. Nature, 545 (7655) pp. 446-451.
[URN][DOI][WoS][Pmid][serval:BIB_379A4A21AFB4]
A complete tool set for molecular QTL discovery and analysis.
Delaneau O, Ongen H, Brown AA, Fort A, Panousis NI, Dermitzakis ET, 2017/05. Nature communications.
[URN][DOI][Pmid][serval:BIB_DAA3C0BF7500]
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
Justice A.E., Winkler T.W., Feitosa M.F., Graff M., Fisher V.A., Young K., Barata L., Deng X., Czajkowski J., Hadley D. et al., 2017/04/26. Nature communications, 8 p. 14977. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_EE9BC5C43371]
Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness.
Heilmann-Heimbach S., Herold C., Hochfeld L.M., Hillmer A.M., Nyholt D.R., Hecker J., Javed A., Chew E.G., Pechlivanis S., Drichel D. et al., 2017/03/08. Nature communications, 8 p. 14694. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_718B98CBA9DB]
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
Volpi S., Yamazaki Y., Brauer P.M., van Rooijen E., Hayashida A., Slavotinek A., Sun Kuehn H., Di Rocco M., Rivolta C., Bortolomai I. et al., 2017/03/06. The Journal of experimental medicine, 214 (3) pp. 623-637. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A5331400A820]
cis-Acting Complex-Trait-Associated lincRNA Expression Correlates with Modulation of Chromosomal Architecture.
Tan J.Y., Smith AAT, Ferreira da Silva M., Matthey-Doret C., Rueedi R., Sönmez R., Ding D., Kutalik Z., Bergmann S., Marques A.C., 2017/02/28. Cell reports, 18 (9) pp. 2280-2288. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_3FE7271DEEFD]
Rare and low-frequency coding variants alter human adult height.
Marouli E., Graff M., Medina-Gomez C., Lo K.S., Wood A.R., Kjaer T.R., Fine R.S., Lu Y., Schurmann C., Highland H.M. et al., 2017/02/09. Nature, 542 (7640) pp. 186-190. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_CB04B9543EC2]
 
The molecular basis of breast cancer pathological phenotypes.
Heng Y.J., Lester S.C., Tse G.M., Factor R.E., Allison K.H., Collins L.C., Chen Y.Y., Jensen K.C., Johnson N.B., Jeong J.C. et al., 2017/02. The Journal of pathology, 241 (3) pp. 375-391. Peer-reviewed.
[DOI][Pmid][serval:BIB_F7EC506788FE]
Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast.
Jeffares D.C., Jolly C., Hoti M., Speed D., Shaw L., Rallis C., Balloux F., Dessimoz C., Bähler J., Sedlazeck F.J., 2017/01/24. Nature communications, 8 p. 14061. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_0B9096E627F3]
 
Genetic evidence of assortative mating in humans
Robinson Matthew R., Kleinman Aaron, Graff Mariaelisa, Vinkhuyzen Anna A. E., Couper David, Miller Michael B., Peyrot Wouter J., Abdellaoui Abdel, Zietsch Brendan P., Nolte Ilja M. et al., 2017/01/09. Nature Human Behaviour, 1 (1) p. 0016.
[DOI][WoS][serval:BIB_32CC1B57FD81]
A transcribed enhancer dictates mesendoderm specification in pluripotency.
Alexanian M., Maric D., Jenkinson S.P., Mina M., Friedman C.E., Ting C.C., Micheletti R., Plaisance I., Nemir M., Maison D. et al., 2017. Nature Communications, 8 (1) p. 1806. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_BAC1BAF45834]
Fossils matter: improved estimates of divergence times in Pinus reveal older diversification.
Saladin B., Leslie A.B., Wüest R.O., Litsios G., Conti E., Salamin N., Zimmermann N.E., 2017. BMC Evolutionary Biology, 17 (1) p. 95. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_055928EC2337]
Genome-Wide Association between Transcription Factor Expression and Chromatin Accessibility Reveals Regulators of Chromatin Accessibility.
Lamparter D., Marbach D., Rueedi R., Bergmann S., Kutalik Z., 2017/01. PLoS computational biology, 13 (1) pp. e1005311. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_986A309B4E9D]
 
Genomics of coloration in natural animal populations.
San-Jose L.M., Roulin A., 2017. Philosophical Transactions of the Royal Society of London. Series B, Biological sciences, 372 (1724) pp. 1-13. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_B1A0EA8EF6B2]
 
Genotype-covariate interaction effects and the heritability of adult body mass index.
Robinson M.R., English G., Moser G., Lloyd-Jones L.R., Triplett M.A., Zhu Z., Nolte I.M., van Vliet-Ostaptchouk J.V., Snieder H., LifeLines Cohort Study et al., 2017. Nature Genetics, 49 (8) pp. 1174-1181. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_1A663429E340]
 
Hummingbird pollination and the diversification of angiosperms: an old and successful association in Gesneriaceae.
Serrano-Serrano M.L., Rolland J., Clark J.L., Salamin N., Perret M., 2017. Proceedings of the Royal Society B. Biological sciences, 284 (1852) p. 2016281. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9A6747041829]
 
Madjedbebe and genomic histories of Aboriginal Australia
Dortch J., Malaspinas A.S., 2017. Australian Archaeology, 83 (3) pp. 174-177. Peer-reviewed.
[DOI][WoS][serval:BIB_2065B92AC73D]
No evidence for the radiation time lag model after whole genome duplications in Teleostei.
Laurent S., Salamin N., Robinson-Rechavi M., 2017. PLoS One, 12 (4) pp. e0176384. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_6A5C276B250D]
 
Phylogenetic position of the rainbow sardine Dussumieria (Dussumieriidae) and its bearing on the early evolution of the Clupeoidei.
Lavoué S., Bertrand JAM, Chen W.J., Ho H.C., Motomura H., Sado T., Miya M., 2017. Gene, 623 pp. 41-47. Peer-reviewed.
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Phylogeography of the sergeants Abudefduf sexfasciatus and A. vaigiensis reveals complex introgression patterns between two widespread and sympatric Indo-West Pacific reef fishes.
Bertrand JAM, Borsa P., Chen W.J., 2017. Molecular Ecology, 26 (9) pp. 2527-2542. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0BCE9439934A]
 
The Gene Ontology Handbook
Dessimoz Christophe, Škunca Nives (eds.)Dessimoz Christophe, 2017., Springer New York.
[DOI][serval:BIB_1B968FF19D40]
Transcriptomic resources for an endemic Neotropical plant lineage (Gesneriaceae).
Serrano-Serrano M.L., Marcionetti A., Perret M., Salamin N., 2017. Applications in Plant Sciences, 5 (4) p. 0. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_B56B42C99A39]
2016
 
Genome-wide analysis identifies 12 loci influencing human reproductive behavior.
Barban N., Jansen R., de Vlaming R., Vaez A., Mandemakers J.J., Tropf F.C., Shen X., Wilson J.F., Chasman D.I., Nolte I.M. et al., 2016/12. Nature genetics, 48 (12) pp. 1462-1472. Peer-reviewed.
[DOI][Pmid][serval:BIB_1811EA937E1C]
 
OR2W3 sequence variants are unlikely to cause inherited retinal diseases.
Sharon D., Kimchi A., Rivolta C., 2016/12. Ophthalmic genetics, 37 (4) pp. 366-368. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2C2076D00973]
Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing.
Royer-Bertrand B., Torsello M., Rimoldi D., El Zaoui I., Cisarova K., Pescini-Gobert R., Raynaud F., Zografos L., Schalenbourg A., Speiser D. et al., 2016/11/03. American journal of human genetics, 99 (5) pp. 1190-1198. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_035A22A1A6AE]
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.
Chen L, Ge B, Casale FP, Vasquez L, Kwan T, Garrido-Martín D, Watt S, Yan Y, Kundu K, Ecker S et al., 2016/11. Cell.
[URN][DOI][Pmid][serval:BIB_7AB6EAA733A4]
 
Predicting causal variants affecting expression using whole genome sequence and RNA-seq from multiple human tissues
Anand Brown A, Viñuela A, Delaneau O, Spector T, Small K, Dermitzakis ET, 2016/11..
[DOI][serval:BIB_1BA17A658AE7]
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
Astle WJ, Elding H, Jiang T, Allen D, Ruklisa D, Mann AL, Mead D, Bouman H, Riveros-Mckay F, Kostadima MA et al., 2016/11. Cell.
[URN][DOI][Pmid][serval:BIB_8926A354043E]
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Bedoni N., Haer-Wigman L., Vaclavik V., Tran V.H., Farinelli P., Balzano S., Royer-Bertrand B., El-Asrag M.E., Bonny O., Ikonomidis C. et al., 2016/10/15. Human molecular genetics, 25 (20) pp. 4546-4555. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_800C2C1B5285]
 
Loss of the HVEM Tumor Suppressor in Lymphoma and Restoration by Modified CAR-T Cells.
Boice M., Salloum D., Mourcin F., Sanghvi V., Amin R., Oricchio E., Jiang M., Mottok A., Denis-Lagache N., Ciriello G. et al., 2016/10/06. Cell, 167 (2) pp. 405-418.e13. Peer-reviewed.
[DOI][Pmid][serval:BIB_EE618867D6F5]
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.
Ehret G.B., Ferreira T., Chasman D.I., Jackson A.U., Schmidt E.M., Johnson T., Thorleifsson G., Luan J., Donnelly L.A., Kanoni S. et al., 2016/10. Nature genetics, 48 (10) pp. 1171-1184. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C3107C8B0FD2]
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
Nikopoulos K., Farinelli P., Giangreco B., Tsika C., Royer-Bertrand B., Mbefo M.K., Bedoni N., Kjellström U., El Zaoui I., Di Gioia S.A. et al., 2016/09/01. American journal of human genetics, 99 (3) pp. 770-776. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_4A7C86DC11B4]
A genome-wide association meta-analysis on apolipoprotein A-IV concentrations.
Lamina C., Friedel S., Coassin S., Rueedi R., Yousri N.A., Seppälä I., Gieger C., Schönherr S., Forer L., Erhart G. et al., 2016/08/15. Human molecular genetics, 25 (16) pp. 3635-3646. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_323B694F448A]
Intercellular ultrafast Ca(2+) wave in vascular smooth muscle cells: numerical and experimental study.
Quijano J.C., Raynaud F., Nguyen D., Piacentini N., Meister J.J., 2016/08/10. Scientific reports, 6 p. 31271. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_D3A76CF5A229]
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
Coppieters F., Ascari G., Dannhausen K., Nikopoulos K., Peelman F., Karlstetter M., Xu M., Brachet C., Meunier I., Tsilimbaris M.K. et al., 2016/08/04. American journal of human genetics, 99 (2) pp. 470-480. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_D94870497C06]
 
A reference panel of 64,976 haplotypes for genotype imputation.
McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K et al., 2016/08. Nature genetics.
[DOI][Pmid][serval:BIB_A717821B34FC]
Phylo.io: Interactive Viewing and Comparison of Large Phylogenetic Trees on the Web.
Robinson O., Dylus D., Dessimoz C., 2016/08. Molecular biology and evolution, 33 (8) pp. 2163-2166. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_82CD43EFE497]
 
Likelihood-Free Inference in High-Dimensional Models.
Kousathanas A., Leuenberger C., Helfer J., Quinodoz M., Foll M., Wegmann D., 2016/06. Genetics, 203 (2) pp. 893-904. Peer-reviewed.
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Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma.
Zheng S., Cherniack A.D., Dewal N., Moffitt R.A., Danilova L., Murray B.A., Lerario A.M., Else T., Knijnenburg T.A., Ciriello G. et al., 2016/04/09. Cancer cell, 29 (5) pp. 723-736. Peer-reviewed.
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Transient structural variations alter gene expression and quantitative traits in Schizosaccharomyces pombe.
Daniel Charlton Jeffares, Clemency Jolly, Mimoza Hoti, Doug Speed, Charalampos Rallis, Christophe Dessimoz, Jurg Bahler, Fritz Sedlazeck, 2016/04., University College London.
[DOI][serval:BIB_5F60A6A86C3A]
UV light signature in conjunctival melanoma; not only skin should be protected from solar radiation.
Rivolta C., Royer-Bertrand B., Rimoldi D., Schalenbourg A., Zografos L., Leyvraz S., Moulin A., 2016/04. Journal of human genetics, 61 (4) pp. 361-362. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_AC5C5AF8BD65]
Phasing for medical sequencing using rare variants and large haplotype reference panels.
Sharp K, Kretzschmar W, Delaneau O, Marchini J, 2016/02. Bioinformatics (Oxford, England).
[URN][DOI][Pmid][serval:BIB_7339E9ECBB7D]
Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.
Rose A.M., Shah A.Z., Venturini G., Krishna A., Chakravarti A., Rivolta C., Bhattacharya S.S., 2016/01/19. Scientific reports, 6 p. 19450. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_5D1C3976F501]
A Variant of GJD2, Encoding for Connexin 36, Alters the Function of Insulin Producing β-Cells.
Cigliola V., Populaire C., Pierri C.L., Deutsch S., Haefliger J.A., Fadista J., Lyssenko V., Groop L., Rueedi R., Thorel F. et al., 2016. Plos One, 11 (3) pp. e0150880. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_093D5FE7BBC7]
 
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.
Simsek Kiper P.O., Saito H., Gori F., Unger S., Hesse E., Yamana K., Kiviranta R., Solban N., Liu J., Brommage R. et al., 2016. New England Journal of Medicine, 374 (26) pp. 2553-2562. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8239D3D6D9DF]
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
D'Angelo D., Lebon S., Chen Q., Martin-Brevet S., Snyder L.G., Hippolyte L., Hanson E., Maillard A.M., Faucett W.A., Macé A. et al., 2016. Jama Psychiatry, 73 (1) pp. 20-30. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_FA7E8A43283E]
Fast and Rigorous Computation of Gene and Pathway Scores from SNP-Based Summary Statistics.
Lamparter D., Marbach D., Rueedi R., Kutalik Z., Bergmann S., 2016. Plos Computational Biology, 12 (1) pp. e1004714.
[URN][DOI][WoS][Pmid][serval:BIB_50526236BCA7]
Genome-Wide Analysis Reveals Novel Regulators of Growth in Drosophila melanogaster.
Vonesch S.C., Lamparter D., Mackay T.F., Bergmann S., Hafen E., 2016. Plos Genetics, 12 (1) pp. e1005616. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_86B1471396C8]
 
Methods to characterize selective sweeps using time serial samples: an ancient DNA perspective
Malaspinas Anna-Sapfo, 2016/01. Mol Ecol, 25 (1) pp. 24-41.
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Molecular evolutionary rates are not correlated with temperature and latitude in Squamata: an exception to the metabolic theory of ecology?
Rolland J., Loiseau O., Romiguier J., Salamin N., 2016. BMC Evolutionary Biology, 16 p. 95. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_304D2DE39E55]
Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma.
Chen F., Zhang Y., Şenbabaoğlu Y., Ciriello G., Yang L., Reznik E., Shuch B., Micevic G., De Velasco G., Shinbrot E. et al., 2016. Cell Reports, 14 (10) pp. 2476-2489. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_AD9469DE8B52]
 
NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
van Karnebeek C.D., Bonafé L., Wen X.Y., Tarailo-Graovac M., Balzano S., Royer-Bertrand B., Ashikov A., Garavelli L., Mammi I., Turolla L. et al., 2016. Nature Genetics, 48 (7) pp. 777-784. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_71E97DD0E8A8]
RNAseq analysis of heart tissue from mice treated with atenolol and isoproterenol reveals a reciprocal transcriptional response.
Prunotto A., Stevenson B.J., Berthonneche C., Schüpfer F., Beckmann J.S., Maurer F., Bergmann S., 2016. BMC Genomics, 17 p. 717. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8B036F457643]
 
Tissue-specific regulatory circuits reveal variable modular perturbations across complex diseases.
Marbach D., Lamparter D., Quon G., Kellis M., Kutalik Z., Bergmann S., 2016. Nature Methods, 13 (4) pp. 366-370. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_AF2629708987]
2015
Fast and efficient QTL mapper for thousands of molecular phenotypes.
Ongen H, Buil A, Brown AA, Dermitzakis ET, Delaneau O, 2015/12. Bioinformatics (Oxford, England).
[URN][DOI][Pmid][serval:BIB_55C001C04967]
A global reference for human genetic variation.
1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA et al., 2015/10. Nature.
[URN][DOI][Pmid][serval:BIB_2D577D8C2D56]
Identification of Genes Whose Expression Profile Is Associated with Non-Progression towards AIDS Using eQTLs.
Spadoni JL, Rucart P, Le Clerc S, van Manen D, Coulonges C, Ulveling D, Laville V, Labib T, Taing L, Delaneau O et al., 2015/09. PloS one.
[URN][DOI][Pmid][serval:BIB_4D8F409664F4]
 
Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.
Wain LV, Shrine N, Miller S, Jackson VE, Ntalla I, Soler Artigas M, Billington CK, Kheirallah AK, Allen R, Cook JP et al., 2015/09. The Lancet. Respiratory medicine.
[DOI][Pmid][serval:BIB_607ADACFA7F0]
Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.
Venturini G., Koskiniemi-Kuendig H., Harper S., Berson E.L., Rivolta C., 2015/09. Genetics In Medicine : Official Journal of the American College of Medical Genetics, 17 (4) pp. 285-290. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_7177E3EE383F]
 
Genomic evidence for the Pleistocene and recent population history of Native Americans
Raghavan Maanasa, Steinrücken Matthias, Harris Kelley, Schiffels Stephan, Rasmussen Simon, DeGiorgio Michael, Albrechtsen Anders, Valdiosera Cristina, Ávila-Arcos María C., Malaspinas Anna-Sapfo et al., 2015/08. Science, 349 (6250) pp. aab3884.
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Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.
Cancer Genome Atlas Research Network, Brat D.J., Verhaak R.G., Aldape K.D., Yung W.K., Salama S.R., Cooper L.A., Rheinbay E., Miller C.R., Vitucci M. et al., 2015/06/25. The New England journal of medicine, 372 (26) pp. 2481-2498. Peer-reviewed.
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Comparative performance of two whole-genome capture methodologies on ancient DNA Illumina libraries
Ávila-Arcos María C., Sandoval-Velasco Marcela, Schroeder Hannes, Carpenter Meredith L., Malaspinas Anna-Sapfo, Wales Nathan, Peñaloza Fernando, Bustamante Carlos D., Gilbert M. Thomas P., 2015/06. Methods in Ecology and Evolution, 6 (6) pp. 725-734.
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Population genomics of Bronze Age Eurasia
Allentoft Morten E., Sikora Martin, Sjögren Karl-Göran, Rasmussen Simon, Rasmussen Morten, Stenderup Jesper, Damgaard Peter B., Schroeder Hannes, Ahlström Torbjörn, Vinner Lasse et al., 2015/06. Nature, 522 (7555) pp. 167-172.
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Systematic identification of cancer driving signaling pathways based on mutual exclusivity of genomic alterations.
Babur Ö., Gönen M., Aksoy B.A., Schultz N., Ciriello G., Sander C., Demir E., 2015/02/26. Genome biology, 16 p. 45. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_36F8DFAD1356]
 
A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family.
Nikopoulos K., Butt G.U., Farinelli P., Mudassar M., Domènech-Estévez E., Samara C., Kausar M., Masroor I., Chrast R., Rivolta C. et al., 2015. Clinical Genetics, 89 (4) pp. 510-511. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3BC6179470F4]
A New CRB1 Rat Mutation Links Müller Glial Cells to Retinal Telangiectasia.
Zhao M., Andrieu-Soler C., Kowalczuk L., Paz Cortés M., Berdugo M., Dernigoghossian M., Halili F., Jeanny J.C., Goldenberg B., Savoldelli M. et al., 2015. Journal of Neuroscience, 35 (15) pp. 6093-6106. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_4583A5612DA1]
Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.
Gioia S.A., Bedoni N., von Scheven-Gête A., Vanoni F., Superti-Furga A., Hofer M., Rivolta C., 2015. Scientific Reports, 5 p. 10200. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_7BCD00A04B55]
Comparative genome analysis of Pseudomonas knackmussii B13, the first bacterium known to degrade chloroaromatic compounds.
Miyazaki R., Bertelli C., Benaglio P., Canton J., De Coi N., Gharib W.H., Gjoksi B., Goesmann A., Greub G., Harshman K. et al., 2015. Environmental Microbiology, 17 (1) pp. 91-104.
[URN][DOI][WoS][Pmid][serval:BIB_EBE76C19261B]
 
Comprehensive Molecular Portraits of Invasive Lobular Breast Cancer.
Ciriello G., Gatza M.L., Beck A.H., Wilkerson M.D., Rhie S.K., Pastore A., Zhang H., McLellan M., Yau C., Kandoth C. et al., 2015. Cell, 163 (2) pp. 506-519. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E5BACAE80B12]
Copy number variations and cognitive phenotypes in unselected populations
Männik K., Mägi R., Macé A., Cole B., Guyatt A.L., Shihab H.A., Maillard A.M., Alavere H., Kolk A., Reigo A. et al., 2015. Journal of the American Medical Association, 313 (20) pp. 2044-2054. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C20E4A2E4D67]
Directional dominance on stature and cognition in diverse human populations.
Joshi P.K., Esko T., Mattsson H., Eklund N., Gandin I., Nutile T., Jackson A.U., Schurmann C., Smith A.V., Zhang W. et al., 2015. Nature, 523 (7561) pp. 459-462. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E6FE1E6B0AA3]
Distribution of monocarboxylate transporters in the peripheral nervous system suggests putative roles in lactate shuttling and myelination.
Domènech-Estévez E., Baloui H., Repond C., Rosafio K., Médard J.J., Tricaud N., Pellerin L., Chrast R., 2015. Journal of Neuroscience, 35 (10) pp. 4151-4156. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C03C96C7FAC4]
Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration.
Bernard-Marissal N., Médard J.J., Azzedine H., Chrast R., 2015. Brain, 138 (Pt 4) pp. 875-890. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_615322DD04FE]
 
Dysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to Synaptic Deficits in Fragile X Syndrome.
Pasciuto E., Ahmed T., Wahle T., Gardoni F., D'Andrea L., Pacini L., Jacquemont S., Tassone F., Balschun D., Dotti C.G. et al., 2015. Neuron, 87 (2) pp. 382-398. Peer-reviewed.
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Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study.
McGivern M.R., Best K.E., Rankin J., Wellesley D., Greenlees R., Addor M.C., Arriola L., de Walle H., Barisic I., Beres J. et al., 2015. Archives of Disease in Childhood. Fetal and Neonatal Edition, 100 (2) pp. F137-F144. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_CA281BB19188]
Genetic studies of body mass index yield new insights for obesity biology
Locke A.E., Kahali B., Berndt S.I., Justice A.E., Pers T.H., Day F.R., Powell C., Vedantam S., Buchkovich M.L., Yang J. et al., 2015. Nature, 518 (7538) pp. 197-206. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_F373E38AD760]
Genome-wide enrichment analysis between endometriosis and obesity-related traits reveals novel susceptibility loci.
Rahmioglu N., Macgregor S., Drong A.W., Hedman Å.K., Harris H.R., Randall J.C., Prokopenko I., International Endogene Consortium (IEC) The GIANT Consortium, Nyholt D.R., Nyholt D.R. et al., 2015. Human Molecular Genetics, 24 (4) pp. 1185-1199.
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Genomic classification of cutaneous melanoma
Network Cancer Genome Atlas, 2015. Cell, 161 (7) pp. 1681-1696.
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Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.
Saqib M.A., Nikopoulos K., Ullah E., Sher Khan F., Iqbal J., Bibi R., Jarral A., Sajid S., Nishiguchi K.M., Venturini G. et al., 2015. Scientific Reports, 5 p. 9965. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_98B9377D4E4A]
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.
Nikopoulos K., Avila-Fernandez A., Corton M., Lopez-Molina M.I., Perez-Carro R., Bontadelli L., Di Gioia S.A., Zurita O., Garcia-Sandoval B., Rivolta C. et al., 2015. Scientific Reports, 5 p. 13902. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E5B61BAA557D]
Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.
Di Gioia S.A., Farinelli P., Letteboer S.J., Arsenijevic Y., Sharon D., Roepman R., Rivolta C., 2015. Human Molecular Genetics, 24 (12) pp. 3359-3371. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_CA43B98E107E]
Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy.
Barneo-Muñoz M., Juárez P., Civera-Tregón A., Yndriago L., Pla-Martin D., Zenker J., Cuevas-Martín C., Estela A., Sánchez-Aragó M., Forteza-Vila J. et al., 2015. Plos Genetics, 11 (4) pp. e1005115. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_2AC8ED546B05]
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.
Day F.R., Ruth K.S., Thompson D.J., Lunetta K.L., Pervjakova N., Chasman D.I., Stolk L., Finucane H.K., Sulem P., Bulik-Sullivan B. et al., 2015. Nature Genetics, 47 (11) pp. 1294-1303. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_95D27766A246]
 
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.
Banka S., Cain S.A., Carim S., Daly S.B., Urquhart J.E., Erdem G., Harris J., Bottomley M., Donnai D., Kerr B. et al., 2015. Annals of the Rheumatic Diseases, 74 (6) pp. 1249-1256. Peer-reviewed.
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Liver-specific loss of lipin-1-mediated phosphatidic acid phosphatase activity does not mitigate intrahepatic TG accumulation in mice.
Schweitzer G.G., Chen Z., Gan C., McCommis K.S., Soufi N., Chrast R., Mitra M.S., Yang K., Gross R.W., Finck B.N., 2015. Journal of Lipid Research, 56 (4) pp. 848-858. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0019909F9C49]
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
Safka Brozkova D., Deconinck T., Beth Griffin L., Ferbert A., Haberlova J., Mazanec R., Lassuthova P., Roth C., Pilunthanakul T., Rautenstrauss B. et al., 2015. Brain, 138 (Pt 8) pp. 2161-2172. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_1D3129D43CF0]
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.
Hor H., Francescatto L., Bartesaghi L., Ortega-Cubero S., Kousi M., Lorenzo-Betancor O., Jiménez-Jiménez F.J., Gironell A., Clarimón J., Drechsel O. et al., 2015. Human Molecular Genetics, 24 (20) pp. 5677-5686. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_38FC7D72437D]
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
Royer-Bertrand B., Castillo-Taucher S., Moreno-Salinas R., Cho T.J., Chae J.H., Choi M., Kim O.H., Dikoglu E., Campos-Xavier B., Girardi E. et al., 2015. Scientific Reports, 5 p. 17154. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_825739ACCA7E]
 
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
Segarra N.G., Ballhausen D., Crawford H., Perreau M., Campos-Xavier B., van Spaendonck-Zwarts K., Vermeer C., Russo M., Zambelli P.Y., Stevenson B. et al., 2015. American Journal of Medical Genetics. Part A, 167A (12) pp. 2902-2912. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D06FCFC24F20]
New genetic loci link adipose and insulin biology to body fat distribution.
Shungin D., Winkler T.W., Croteau-Chonka D.C., Ferreira T., Locke A.E., Mägi R., Strawbridge R.J., Pers T.H., Fischer K., Justice A.E. et al., 2015. Nature, 518 (7538) pp. 187-196. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_10C25BFE14DB]
Pom1 gradient buffering through intermolecular auto-phosphorylation.
Hersch M., Hachet O., Dalessi S., Ullal P., Bhatia P., Bergmann S., Martin S.G., 2015. Molecular Systems Biology, 11 (7) p. 818. Peer-reviewed.
[URN][WoS][Pmid][serval:BIB_8A9B72AA03B4]
 
Population Variation and Genetic Control of Modular Chromatin Architecture in Humans.
Waszak S.M., Delaneau O., Gschwind A.R., Kilpinen H., Raghav S.K., Witwicki R.M., Orioli A., Wiederkehr M., Panousis N.I., Yurovsky A. et al., 2015. Cell, 162 (5) pp. 1039-1050. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_563E43FC3C7F]
 
Predicting recurrence after unprovoked venous thromboembolism: prospective validation of the updated Vienna Prediction Model.
Tritschler T., Méan M., Limacher A., Rodondi N., Aujesky D., 2015. Blood, 126 (16) pp. 1949-1951. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_053621095554]
 
Quality of life after pulmonary embolism: Prospective validation of the German version of the PEmb-QoL questionnaire.
Frey P.M., Méan M., Limacher A., Leiss W., Schwab N., Rochat M., Aujesky D., 2015. Thrombosis Research, 135 (6) pp. 1087-1092. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_B451F87A59E2]
Reply: Is SIGMAR1 a confirmed FTD/MND gene?
Bernard-Marissal N., Médard J.J., Azzedine H., Chrast R., 2015. Brain, 138 (Pt 11) pp. e394. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E2CD70BC5052]
Sequencing and characterizing the genome of Estrella lausannensis as an undergraduate project: training students and biological insights.
Bertelli C., Aeby S., Chassot B., Clulow J., Hilfiker O., Rappo S., Ritzmann S., Schumacher P., Terrettaz C., Benaglio P. et al., 2015. Frontiers in Microbiology, 6 (101) p. 101. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_5BB2A564D83D]
Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.
Genesio R., Mormile A., Licenziati M.R., De Brasi D., Leone G., Balzano S., Izzo A., Bonfiglio F., Conti A., Fioretti G. et al., 2015. Molecular Cytogenetics, 8 p. 50. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8350BFFBF1AD]
 
Sox4 participates in the modulation of Schwann cell myelination.
Bartesaghi L., Arnaud Gouttenoire E., Prunotto A., Médard J.J., Bergmann S., Chrast R., 2015. European Journal of Neuroscience, 42 (2) pp. 1788-1796. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DF6145E49C9F]
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
Winkler T.W., Justice A.E., Graff M., Barata L., Feitosa M.F., Chu S., Czajkowski J., Esko T., Fall T., Kilpeläinen T.O. et al., 2015. Plos Genetics, 11 (10) pp. e1005378. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_4635F40FBD19]
 
The Molecular Taxonomy of Primary Prostate Cancer
Network Cancer Genome Atlas Research, 2015. Cell, 163 (4) pp. 1011-1025.
[serval:BIB_D248E81FB966]
 
The OMA orthology database in 2015: function predictions, better plant support, synteny view and other improvements.
Altenhoff A.M., Škunca N., Glover N., Train C.M., Sueki A., Piližota I., Gori K., Tomiczek B., Müller S., Redestig H. et al., 2015/01. Nucleic acids research, 43 (Database issue) pp. D240-9. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0E374421DCD4]
 
TLR3-Mediated CD8+ Dendritic Cell Activation Is Coupled with Establishment of a Cell-Intrinsic Antiviral State.
Széles L., Meissner F., Dunand-Sauthier I., Thelemann C., Hersch M., Singovski S., Haller S., Gobet F., Fuertes Marraco S.A., Mann M. et al., 2015. Journal of Immunology, 195 (3) pp. 1025-1033. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D509593DF5F7]
 
Transcriptional regulator PRDM12 is essential for human pain perception.
Chen Y.C., Auer-Grumbach M., Matsukawa S., Zitzelsberger M., Themistocleous A.C., Strom T.M., Samara C., Moore A.W., Cho L.T., Young G.T. et al., 2015. Nature Genetics, 47 (7) pp. 803-808. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_63530D2DF2BB]
 
Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer.
Royer-Bertrand B., Rivolta C., 2015. Cellular and Molecular Life Sciences, 72 (8) pp. 1463-1471. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_F19963999657]
2014
Two ancient human genomes reveal Polynesian ancestry among the indigenous Botocudos of Brazil
Malaspinas Anna-Sapfo, Lao Oscar, Schroeder Hannes, Rasmussen Morten, Raghavan Maanasa, Moltke Ida, Campos Paula F., Sagredo Francisca Santana, Rasmussen Simon, Gonçalves Vanessa F. et al., 2014/11. Current Biology, 24 (21) pp. R1035–R1037.
[URN][DOI][serval:BIB_A15E08285B66]
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Perry J.R., Day F., Elks C.E., Sulem P., Thompson D.J., Ferreira T., He C., Chasman D.I., Esko T., Thorleifsson G. et al., 2014/10/02. Nature, 514 (7520) pp. 92-97. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_7816C9E4E3E5]
Comprehensive molecular profiling of lung adenocarcinoma.
Cancer Genome Atlas Research Network, 2014/07/31. Nature, 511 (7511) pp. 543-550. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_AD462EA7A7F2]
 
Impact of recurrent copy number alterations and cancer gene mutations on the predictive accuracy of prognostic models in clear cell renal cell carcinoma.
Hakimi A.A., Mano R., Ciriello G., Gonen M., Mikkilineni N., Sfakianos J.P., Kim P.H., Motzer R.J., Russo P., Reuter V.E. et al., 2014/07. The Journal of urology, 192 (1) pp. 24-29. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_BF35109D0586]
Frequent disruption of the RB pathway in indolent follicular lymphoma suggests a new combination therapy.
Oricchio E., Ciriello G., Jiang M., Boice M.H., Schatz J.H., Heguy A., Viale A., de Stanchina E., Teruya-Feldstein J., Bouska A. et al., 2014/06/30. The Journal of experimental medicine, 211 (7) pp. 1379-1391. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_48D4D91B5119]
 
Evidence after imputation for a role of MICA variants in nonprogression and elite control of HIV type 1 infection.
Le Clerc S, Delaneau O, Coulonges C, Spadoni JL, Labib T, Laville V, Ulveling D, Noirel J, Montes M, Schächter F et al., 2014/06. The Journal of infectious diseases.
[DOI][Pmid][serval:BIB_3FA527ADAFC1]
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel.
Delaneau O, Marchini J, 1000 Genomes Project Consortium, 1000 Genomes Project Consortium, 2014/06. Nature communications.
[URN][DOI][Pmid][serval:BIB_FAB25C17CFF9]
A general approach for haplotype phasing across the full spectrum of relatedness.
O'Connell J, Gurdasani D, Delaneau O, Pirastu N, Ulivi S, Cocca M, Traglia M, Huang J, Huffman JE, Rudan I et al., 2014/04. PLoS genetics.
[URN][DOI][Pmid][serval:BIB_C7B0BFD824A4]
 
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.
Jacquemont S., Coe B.P., Hersch M., Duyzend M.H., Krumm N., Bergmann S., Beckmann J.S., Rosenfeld J.A., Eichler E.E., 2014. American Journal of Human Genetics, 94 (3) pp. 415-425. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0ECCA4248136]
 
A role of peripheral myelin protein 2 in lipid homeostasis of myelinating Schwann cells.
Zenker J., Stettner M., Ruskamo S., Domènech-Estévez E., Baloui H., Médard J.J., Verheijen M.H., Brouwers J.F., Kursula P., Kieseier B.C. et al., 2014. Glia, 62 (9) pp. 1502-1512. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_4D5B5BC75F62]
 
Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.
Olden M., Corre T., Hayward C., Toniolo D., Ulivi S., Gasparini P., Pistis G., Hwang S.J., Bergmann S., Campbell H. et al., 2014. Journal of the American Society of Nephrology, 25 (8) pp. 1869-1882. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C1848CB96D59]
Distinct levels in Pom1 gradients limit Cdr2 activity and localization to time and position division.
Bhatia P., Hachet O., Hersch M., Rincon S.A., Berthelot-Grosjean M., Dalessi S., Basterra L., Bergmann S., Paoletti A., Martin S.G., 2014. Cell Cycle, 13 (4) pp. 538-552.
[URN][DOI][WoS][Pmid][serval:BIB_BA90E254E2C0]
DNA mismatch repair gene MSH6 implicated in determining age at natural menopause.
Perry J.R., Hsu Y.H., Chasman D.I., Johnson A.D., Elks C., Albrecht E., Andrulis I.L., Beesley J., Berenson G.S., Bergmann S. et al., 2014. Human Molecular Genetics, 23 (9) pp. 2490-2497.
[URN][DOI][WoS][Pmid][serval:BIB_92D295068C5A]
Dominant PRPF31 Mutations Are Hypostatic to a Recessive CNOT3 Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of "Linked Trans-Acting Epistasis".
Rose A.M., Shah A.Z., Venturini G., Rivolta C., Rose G.E., Bhattacharya S.S., 2014. Annals of Human Genetics, 78 (1) pp. 62-71. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_4A258571D166]
 
DQB1 locus alone explains most of the risk and protection in narcolepsy with cataplexy in Europe.
Tafti M., Hor H., Dauvilliers Y., Lammers G.J., Overeem S., Mayer G., Javidi S., Iranzo A., Santamaria J., Peraita-Adrados R. et al., 2014. Sleep, 37 (1) pp. 19-25.
[DOI][WoS][Pmid][serval:BIB_0828CCB5A667]
 
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
Nishiguchi K.M., Avila-Fernandez A., van Huet R.A., Corton M., Pérez-Carro R., Martín-Garrido E., López-Molina M.I., Blanco-Kelly F., Hoefsloot L.H., van Zelst-Stams W.A. et al., 2014. Ophthalmology, 121 (8) pp. 1620-1627. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0D4D332C1A75]
Fifteen years SIB Swiss Institute of Bioinformatics: life science databases, tools and support.
Stockinger H., Altenhoff A.M., Arnold K., Bairoch A., Bastian F., Bergmann S., Bougueleret L., Bucher P., Delorenzi M., Lane L. et al., 2014. Nucleic Acids Research, 42 (Web Server issue) pp. W436-W441. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_28A5775B7C38]
Functional chromatin features are associated with structural mutations in cancer.
Grzeda K.R., Royer-Bertrand B., Inaki K., Kim H., Hillmer A.M., Liu E.T., Chuang J.H., 2014. Bmc Genomics, 15 p. 1013. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_623AF785256E]
 
Gene-Age Interactions in Blood Pressure Regulation: A Large-Scale Investigation with the CHARGE, Global BPgen, and ICBP Consortia.
Simino J., Shi G., Bis J.C., Chasman D.I., Ehret G.B., Gu X., Guo X., Hwang S.J., Sijbrands E., Smith A.V. et al., 2014. American Journal of Human Genetics, 95 (1) pp. 24-38. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_86236798F95A]
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
Rueedi R., Ledda M., Nicholls A.W., Salek R.M., Marques-Vidal P., Morya E., Sameshima K., Montoliu I., Da Silva L., Collino S. et al., 2014. Plos Genetics, 10 (2) pp. e1004132. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_018C0E67910C]
GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics.
Ledda M., Kutalik Z., Souza Destito M.C., Souza M.M., Cirillo C.A., Zamboni A., Martin N., Morya E., Sameshima K., Beckmann J.S. et al., 2014. Human Molecular Genetics, 23 (1) pp. 259-267.
[URN][DOI][WoS][Pmid][serval:BIB_180FDCC647D0]
 
Integrated genomic characterization of papillary thyroid carcinoma
Network Cancer Genome Atlas Research, 2014. Cell, 159 (3) pp. 676-690.
[serval:BIB_30797FA5AC2D]
Light intensity modulates the regulatory network of the shade avoidance response in Arabidopsis.
Hersch M., Lorrain S., de Wit M., Trevisan M., Ljung K., Bergmann S., Fankhauser C., 2014. Proceedings of the National Academy of Sciences of the United States of America, 111 (17) pp. 6515-6520. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C2C0FA03AEFA]
Molecular Genetics of FAM161A in North American Patients with Early-Onset Retinitis Pigmentosa.
Venturini G., Di Gioia S.A., Harper S., Weigel-Difranco C., Rivolta C., Berson E.L., 2014. Plos One, 9 (3) pp. e92479. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_9D8FA761BBAD]
Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.
Benaglio P., San Jose P.F., Avila-Fernandez A., Ascari G., Harper S., Manes G., Ayuso C., Hamel C., Berson E.L., Rivolta C., 2014. Molecular Vision, 20 pp. 843-851. Peer-reviewed.
[URN][WoS][Pmid][serval:BIB_F4712C0BB6F7]
Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index.
Hoggart C.J., Venturini G., Mangino M., Gomez F., Ascari G., Zhao J.H., Teumer A., Winkler T.W., Ternikova N., Luan J. et al., 2014. PLoS Genetics, 10 (7) pp. e1004508.
[URN][DOI][WoS][Pmid][serval:BIB_B24DBE741EAD]
On estimation and identifiability issues of sex-linked inheritance with a case study of pigmentation in Swiss barn owl (Tyto alba)
Larsen C.T., Holland A.M., Jensen H., Steinsland I., Roulin A., 2014. Ecology and Evolution, 4 (9) pp. 1555-1566. Peer-reviewed.
[URN][DOI][WoS][serval:BIB_152C15ECA0C2]
Plasma membrane H⁺ -ATPase regulation is required for auxin gradient formation preceding phototropic growth.
Hohm T., Demarsy E., Quan C., Allenbach Petrolati L., Preuten T., Vernoux T., Bergmann S., Fankhauser C., 2014. Molecular Systems Biology, 10 (9) p. 751. Peer-reviewed.
[URN][WoS][Pmid][serval:BIB_8F7ADDBC432C]
Regulation of the JNK3 signaling pathway during islet isolation: JNK3 and c-fos as new markers of islet quality for transplantation.
Abdelli S., Papas K.K., Mueller K.R., Murtaugh M.P., Hering B.J., Bonny C., 2014. Plos One, 9 (7) pp. e99796. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_CB517678C4DE]
2013
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
Horikoshi M., Yaghootkar H., Mook-Kanamori D.O., Sovio U., Taal H.R., Hennig B.J., Bradfield J.P., St Pourcain B., Evans D.M., Charoen P. et al., 2013/12. Nature Genetics, 45 (1) pp. 76-82.
[URN][DOI][Pmid][serval:BIB_9BEFC7CAA18D]
 
Haplotype estimation using sequencing reads.
Delaneau O, Howie B, Cox AJ, Zagury JF, Marchini J, 2013/10. American journal of human genetics.
[DOI][Pmid][serval:BIB_AAC68C41B758]
A genome-wide association study of early menopause and the combined impact of identified variants.
Perry J.R., Corre T., Esko T., Chasman D.I., Fischer K., Franceschini N., He C., Kutalik Z., Mangino M., Rose L.M. et al., 2013. Human Molecular Genetics, 22 (7) pp. 1465-1472.
[URN][DOI][WoS][Pmid][serval:BIB_1B48C9EEEFB7]
 
Association of adiposity genetic variants with menarche timing in 92,105 women of European descent.
Fernández-Rhodes L., Demerath E.W., Cousminer D.L., Tao R., Dreyfus J.G., Esko T., Smith A.V., Gudnason V., Harris T.B., Launer L. et al., 2013. American Journal of Epidemiology, 178 (3) pp. 451-460. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2678C7F17716]
 
Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study.
Luca G., Haba-Rubio J., Dauvilliers Y., Lammers G.J., Overeem S., Donjacour C.E., Mayer G., Javidi S., Iranzo A., Santamaria J. et al., 2013. Journal of Sleep Research, 22 (5) pp. 482-495.
[DOI][WoS][Pmid][serval:BIB_6E69BB255E98]
Common variants associated with plasma triglycerides and risk for coronary artery disease.
Do R., Willer C.J., Schmidt E.M., Sengupta S., Gao C., Peloso G.M., Gustafsson S., Kanoni S., Ganna A., Chen J. et al., 2013. Nature Genetics, 45 (11) pp. 1345-1352.
[URN][DOI][WoS][Pmid][serval:BIB_5CA22C7D515E]
 
Common variants in mendelian kidney disease genes and their association with renal function.
Parsa A., Fuchsberger C., Köttgen A., O'Seaghdha C.M., Pattaro C., de Andrade M., Chasman D.I., Teumer A., Endlich K., Olden M. et al., 2013. Journal of the American Society of Nephrology, 24 (12) pp. 2105-2117.
[DOI][WoS][Pmid][serval:BIB_A6FEE2A2AE69]
 
Comparative genetic analyses point to HCP5 as susceptibility locus for HCV-associated hepatocellular carcinoma.
Lange C.M., Bibert S., Dufour J.F., Cellerai C., Cerny A., Heim M.H., Kaiser L., Malinverni R., Müllhaupt B., Negro F. et al., 2013. Journal of Hepatology, 59 (3) pp. 504-509.
[DOI][WoS][Pmid][serval:BIB_223719F6DDDB]
Defining the site of light perception and initiation of phototropism in Arabidopsis.
Preuten T., Hohm T., Bergmann S., Fankhauser C., 2013. Current Biology, 23 (19) pp. 1934-1938.
[URN][DOI][WoS][Pmid][serval:BIB_12E34D66EC26]
Erratum to: MGMT methylation analysis of glioblastoma on the Infinium methylation BeadChip identifies two distinct CpG regions associated with gene silencing and outcome, yielding a prediction model for comparisons across datasets, tumor grades, and CIMP-status.
Bady P., Sciuscio D., Diserens A.C., Bloch J., van den Bent M.J., Marosi C., Dietrich P.Y., Weller M., Mariani L., Heppner F.L. et al., 2013. Acta Neuropathologica, 126 (1) p. 159.
[URN][DOI][WoS][serval:BIB_0A8757112A5B]
 
Evaluation of two minimally invasive techniques for electroencephalogram recording in wild or freely behaving animals.
Scriba M.F., Harmening W.M., Mettke-Hofmann C., Vyssotski A.L., Roulin A., Wagner H., Rattenborg N.C., 2013. Journal of Comparative Physiology. A, Neuroethology, Sensory, Neural, and Behavioral Physiology, 199 (3) pp. 183-189. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_2235723E1E27]
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
Corton M., Nishiguchi K.M., Avila-Fernández A., Nikopoulos K., Riveiro-Alvarez R., Tatu S.D., Ayuso C., Rivolta C., 2013. Plos One, 8 (6) pp. e65574.
[URN][DOI][WoS][Pmid][serval:BIB_57605D5C7CCB]
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