Department of Computational Biology

Publications | Phd and Masters theses

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799 publications

... | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2003 | 2001 |
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
Köttgen A., Albrecht E., Teumer A., Vitart V., Krumsiek J., Hundertmark C., Pistis G., Ruggiero D., O'Seaghdha C.M., Haller T. et al., 2013. Nature Genetics, 45 (2) pp. 145-154. Peer-reviewed.
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
Berndt S.I., Gustafsson S., Mägi R., Ganna A., Wheeler E., Feitosa M.F., Justice A.E., Monda K.L., Croteau-Chonka D.C., Day F.R. et al., 2013. Nature Genetics, 45 (5) pp. 501-512. Peer-reviewed.
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
Rietveld C.A., Medland S.E., Derringer J., Yang J., Esko T., Martin N.W., Westra H.J., Shakhbazov K., Abdellaoui A., Agrawal A. et al., 2013. Science, 340 (6139) pp. 1467-1471. Peer-reviewed.
Hepatic-specific lipin-1 deficiency exacerbates experimental alcohol-induced steatohepatitis in mice.
Hu M., Yin H., Mitra M.S., Liang X., Ajmo J.M., Nadra K., Chrast R., Finck B.N., You M., 2013. Hepatology, 58 (6) pp. 1953-1963. Peer-reviewed.
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
den Hoed M., Eijgelsheim M., Esko T., Brundel B.J., Peal D.S., Evans D.M., Nolte I.M., Segrè A.V., Holm H., Handsaker R.E. et al., 2013. Nature Genetics, 45 (6) pp. 621-631. Peer-reviewed.
 
Improved whole-chromosome phasing for disease and population genetic studies.
Delaneau O, Zagury JF, Marchini J, 2013/01. Nature methods.
Influence of CRTC1 Polymorphisms on Body Mass Index and Fat Mass in Psychiatric Patients and the General Adult Population.
Choong E., Quteineh L., Cardinaux J.R., Gholam-Rezaee M., Vandenberghe F., Dobrinas M., Bondolfi G., Etter M., Holzer L., Magistretti P. et al., 2013. JAMA Psychiatry, 70 (10) pp. 1011-1019. Peer-reviewed.
Manipulating the sensitivity of signal-induced repression: quantification and consequences of altered brinker gradients.
Gafner L., Dalessi S., Escher E., Pyrowolakis G., Bergmann S., Basler K., 2013. Plos One, 8 (8) pp. e71224.
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
O'Seaghdha C.M., Wu H., Yang Q., Kapur K., Guessous I., Zuber A.M., Köttgen A., Stoudmann C., Teumer A., Kutalik Z. et al., 2013. Plos Genetics, 9 (9) pp. e1003796.
 
Mice with an adipocyte-specific lipin 1 separation-of-function allele reveal unexpected roles for phosphatidic acid in metabolic regulation.
Mitra M.S., Chen Z., Ren H., Harris T.E., Chambers K.T., Hall A.M., Nadra K., Klein S., Chrast R., Su X. et al., 2013. Proceedings of the National Academy of Sciences of the United States of America, 110 (2) pp. 642-647.
Neuronal activity in the hub of extrasynaptic Schwann cell-axon interactions.
Samara C., Poirot O., Domènech-Estévez E., Chrast R., 2013. Frontiers in Cellular Neuroscience, 7 p. 228. Peer-reviewed.
New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations.
Salih M.A., Mundwiller E., Khan A.O., Aldrees A., Elmalik S.A., Hassan H.H., Al-Owain M., Alkhalidi H.M., Katona I., Kabiraj M.M. et al., 2013. Plos One, 8 (10) pp. e76831.
 
Novel pathogenic pathways in diabetic neuropathy.
Zenker J., Ziegler D., Chrast R., 2013. Trends in Neurosciences, 36 (8) pp. 439-449.
Phototropism: Translating light into directional growth.
Hohm T., Preuten T., Fankhauser C., 2013. American Journal of Botany, 100 (1) pp. 47-59. Peer-reviewed.
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
Azzedine H., Zavadakova P., Planté-Bordeneuve V., Vaz Pato M., Pinto N., Bartesaghi L., Zenker J., Poirot O., Bernard-Marissal N., Arnaud Gouttenoire E. et al., 2013. Human Molecular Genetics, 22 (20) pp. 4224-4232.
 
Rapid detection of bacterial resistance to antibiotics using AFM cantilevers as nanomechanical sensors.
Longo G., Alonso-Sarduy L., Rio L.M., Bizzini A., Trampuz A., Notz J., Dietler G., Kasas S., 2013. Nature Nanotechnology, 8 (7) pp. 522-526. Peer-reviewed.
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
Randall J.C., Winkler T.W., Kutalik Z., Berndt S.I., Jackson A.U., Monda K.L., Kilpeläinen T.O., Esko T., Mägi R., Li S. et al., 2013. Plos Genetics, 9 (6) pp. e1003500.
 
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.
Gouttenoire E.A., Lupo V., Calpena E., Bartesaghi L., Schüpfer F., Médard J.J., Maurer F., Beckmann J.S., Senderek J., Palau F. et al., 2013. Glia, 61 (7) pp. 1041-1051. Peer-reviewed.
 
Target sequencing, cell experiments, and a population study establish endothelial nitric oxide synthase (eNOS) gene as hypertension susceptibility gene.
Salvi E., Kuznetsova T., Thijs L., Lupoli S., Stolarz-Skrzypek K., D'Avila F., Tikhonoff V., De Astis S., Barcella M., Seidlerová J. et al., 2013. Hypertension, 62 (5) pp. 844-852.
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.
Sailani M.R., Makrythanasis P., Valsesia A., Santoni F.A., Deutsch S., Popadin K., Borel C., Migliavacca E., Sharp A.J., Duriaux Sail G. et al., 2013. Genome Research, 23 (9) pp. 1410-1421.
The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation.
Valsesia A., Macé A., Jacquemont S., Beckmann J.S., Kutalik Z., 2013. Frontiers in Genetics, 4 p. 92. Peer-reviewed.
The hourglass and the early conservation models--co-existing patterns of developmental constraints in vertebrates.
Piasecka B., Lichocki P., Moretti S., Bergmann S., Robinson-Rechavi M., 2013. Plos Genetics, 9 (4) pp. e1003476. Peer-reviewed.
 
The protective effect of the obesity-associated rs9939609 A variant in fat mass- and obesity-associated gene on depression.
Samaan Z., Anand S., Zhang X., Desai D., Rivera M., Pare G., Thabane L., Xie C., Gerstein H., Engert J.C. et al., 2013. Molecular Psychiatry, 18 (12) pp. 1281-1286. Peer-reviewed.
 
The shared allelic architecture of adiponectin levels and coronary artery disease.
Dastani Z., Johnson T., Kronenberg F., Nelson C.P., Assimes T.L., März W., CARDIoGRAM Consortium, ADIPOGen Consortium, Brent Richards J., Brent Richards J., 2013. Atherosclerosis, 229 (1) pp. 145-148.
 
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
Nishiguchi K.M., Tearle R.G., Liu Y.P., Oh E.C., Miyake N., Benaglio P., Harper S., Koskiniemi-Kuendig H., Venturini G., Sharon D. et al., 2013. Proceedings of the National Academy of Sciences of the United States of America, 110 (40) pp. 16139-16144. Peer-reviewed.
 
A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging.
Le Clerc S, Taing L, Ezzedine K, Latreille J, Delaneau O, Labib T, Coulonges C, Bernard A, Melak S, Carpentier W et al., 2012/12. The Journal of investigative dermatology.
Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.
Patin E., Kutalik Z., Guergnon J., Bibert S., Nalpas B., Jouanguy E., Munteanu M., Bousquet L., Argiro L., Halfon P. et al., 2012/11. Gastroenterology, 143 (5) pp. 1244-52.e1-12. Peer-reviewed.
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
Manning A.K., Hivert M.F., Scott R.A., Grimsby J.L., Bouatia-Naji N., Chen H., Rybin D., Liu C.T., Bielak L.F., Prokopenko I. et al., 2012/05/13. Nature genetics, 44 (6) pp. 659-669. Peer-reviewed.
Iterative Estimation of Rigid-Body Transformations
Hersch Micha, Billard Aude, Bergmann Sven, 2012/04. Journal of Mathematical Imaging and Vision, 43 (1) pp. 1-9. Peer-reviewed.
 
Multicohort genomewide association study reveals a new signal of protection against HIV-1 acquisition.
Limou S, Delaneau O, van Manen D, An P, Sezgin E, Le Clerc S, Coulonges C, Troyer JL, Veldink JH, van den Berg LH et al., 2012/02. The Journal of infectious diseases.
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Zufferey F., Sherr E.H., Beckmann N.D., Hanson E., Maillard A.M., Hippolyte L., Macé A., Ferrari C., Kutalik Z., Andrieux J. et al., 2012. Journal of Medical Genetics, 49 (10) pp. 660-668. Peer-reviewed.
A Genetic Validation Study Reveals a Role of Vitamin D Metabolism in the Response to Interferon-Alfa-Based Therapy of Chronic Hepatitis C.
Lange C.M., Bibert S., Kutalik Z., Burgisser P., Cerny A., Dufour J.F., Geier A., Gerlach T.J., Heim M.H., Malinverni R. et al., 2012. Plos One, 7 (7) pp. e40159.
 
A Multi-SNP Locus-Association Method Reveals a Substantial Fraction of the Missing Heritability.
Ehret G.B., Lamparter D., Hoggart C.J., Genetic Investigation of Anthropometric Traits Consortium, Whittaker J.C., Whittaker J.C., Beckmann J.S., Kutalik Z., 2012. American Journal of Human Genetics, 91 (5) pp. 863-871.
 
Aging of myelinating glial cells predominantly affects lipid metabolism and immune response pathways.
Verdier V., Csárdi G., de Preux-Charles A.S., Médard J.J., Smit A.B., Verheijen M.H., Bergmann S., Chrast R., 2012. Glia, 60 (5) pp. 751-760. Peer-reviewed.
Altered distribution of juxtaparanodal kv1.2 subunits mediates peripheral nerve hyperexcitability in type 2 diabetes mellitus.
Zenker J., Poirot O., de Preux Charles A.S., Arnaud E., Médard J.J., Lacroix C., Kuntzer T., Chrast R., 2012. Journal of Neuroscience, 32 (22) pp. 7493-7498. Peer-reviewed.
 
Caffeine intake and CYP1A2 variants associated with high caffeine intake protect non-smokers from hypertension.
Guessous I., Dobrinas M., Kutalik Z., Pruijm M., Ehret G., Maillard M., Bergmann S., Beckmann J.S., Cusi D., Rizzi F. et al., 2012. Human Molecular Genetics, 21 (14) pp. 3283-3292. Peer-reviewed.
Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10.
Marek D., Papin S., Ellefsen K., Niederhauser J., Isidor N., Ransijn A., Poupon L., Spertini F., Pantaleo G., Bergmann S. et al., 2012. Journal of Neuroinflammation, 9 p. 238. Peer-reviewed.
 
Cell autonomous lipin 1 function is essential for development and maintenance of white and brown adipose tissue.
Nadra K., Médard J.J., Mul J.D., Han G.S., Grès S., Pende M., Metzger D., Chambon P., Cuppen E., Saulnier-Blache J.S. et al., 2012. Molecular and Cellular Biology, 32 (23) pp. 4794-4810. Peer-reviewed.
CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.
Venturini G., Rose A.M., Shah A.Z., Bhattacharya S.S., Rivolta C., 2012. PLOS Genetics, 8 (11) pp. e1003040.
Comparative modular analysis of gene expression in vertebrate organs.
Piasecka B., Kutalik Z., Roux J., Bergmann S., Robinson-Rechavi M., 2012. Bmc Genomics, 13 p. 124. Peer-reviewed.
Correcting for the bias due to expression specificity improves the estimation of constrained evolution of expression between mouse and human.
Piasecka B., Robinson-Rechavi M., Bergmann S., 2012. Bioinformatics, 28 (14) pp. 1865-1872. Peer-reviewed.
 
Depressive disorder moderates the effect of the FTO gene on body mass index.
Rivera M., Cohen-Woods S., Kapur K., Breen G., Ng M.Y., Butler A.W., Craddock N., Gill M., Korszun A., Maier W. et al., 2012. Molecular Psychiatry, 17 (6) pp. 604-611. Peer-reviewed.
Development of mental disorders one year after exposure to psychosocial stressors; a cohort study in primary care patients with a physical complaint.
Herzig L., Mühlemann N., Burnand B., Favrat B., Haftgoli N., Verdon F., Bischoff T., Vaucher P., 2012. BMC Psychiatry, 12 (1) p. 120. Peer-reviewed.
Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
Franceschini N., van Rooij F.J., Prins B.P., Feitosa M.F., Karakas M., Eckfeldt J.H., Folsom A.R., Kopp J., Vaez A., Andrews J.S. et al., 2012. American Journal of Human Genetics, 91 (4) pp. 744-753. Peer-reviewed.
 
Epineurial adipocytes are dispensable for Schwann cell myelination.
Nadra K., Médard J.J., Quignodon L., Verheijen M.H., Desvergne B., Chrast R., 2012. Journal of Neurochemistry, 123 (5) pp. 662-667.
 
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.
Nikolaev S.I., Rimoldi D., Iseli C., Valsesia A., Robyr D., Gehrig C., Harshman K., Guipponi M., Bukach O., Zoete V. et al., 2012. Nature Genetics, 44 (2) pp. 133-139.
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
Di Gioia S.A., Letteboer S.J., Kostic C., Bandah-Rozenfeld D., Hetterschijt L., Sharon D., Arsenijevic Y., Roepman R., Rivolta C., 2012. Human Molecular Genetics, 21 (23) pp. 5174-5184. Peer-reviewed.
 
FTO genotype is associated with phenotypic variability of body mass index.
Yang J., Loos R.J., Powell J.E., Medland S.E., Speliotes E.K., Chasman D.I., Rose L.M., Thorleifsson G., Steinthorsdottir V., Mägi R. et al., 2012. Nature, 490 (7419) pp. 267-272.
 
Genetic association analyses reveal a role for vitamin D insufficiency in hepatitis C virus-associated hepatocellular carcinoma development
Lange C.M., Miki D., Ochi H., Nischalke H.D., Bojunga J., Bibert S., Morikawa K., Gouttenoire J., Cerny A., Dufour J.F. et al., 2012., Congrès annuel de la SGG pp. 4S dans Annual Meeting of the Swiss Society of Gastroenterology, Swiss Society of Visceral Surgery, Swiss Association of the Study of the Liver and Swiss Society of Clinical Nutrition, Swiss Medical Weekly.
Genetic polymorphisms of the main transcription factors for adiponectin gene promoter in regulation of adiponectin levels: association analysis in three European cohorts.
Kedenko L., Lamina C., Kiesslich T., Kapur K., Bergmann S., Waterworth D., Heid I.M., Wichmann H.E., Kedenko I., Kronenberg F. et al., 2012. Plos One, 7 (12) pp. e52497. Peer-reviewed.
Genome-wide association and functional follow-up reveals new loci for kidney function.
Pattaro C., Köttgen A., Teumer A., Garnaas M., Böger C.A., Fuchsberger C., Olden M., Chen M.H., Tin A., Taliun D. et al., 2012. Plos Genetics, 8 (3) pp. e1002584. Peer-reviewed.
 
Genome-wide association study identifies variants associated with liver fibrosis progression in HCV-infected patients
Patin E., Kutalik Z., Guergnon J., Bibert S., Nalpas B., Jouanguy E., Munteanu M., Bousquet L., Argiro I., Halfon P. et al., 2012. pp. S551 dans 47th Annual Meeting of the European Association for the Study of the Liver, Journal of Hepatology.
Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts.
Boraska V., Day-Williams A., Franklin C.S., Elliott K.S., Panoutsopoulou K., Tachmazidou I., Albrecht E., Bandinelli S., Beilin L.J., Bochud M. et al., 2012. Plos One, 7 (3) pp. e31369 [10 p.]. Peer-reviewed.
 
Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase.
Salvi E., Kutalik Z., Glorioso N., Benaglio P., Frau F., Kuznetsova T., Arima H., Hoggart C., Tichet J., Nikitin Y.P. et al., 2012. Hypertension, 59 (2) pp. 248-255. Peer-reviewed.
Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort.
Valsesia A., Stevenson B.J., Waterworth D., Mooser V., Vollenweider P., Waeber G., Jongeneel C.V., Beckmann J.S., Kutalik Z., Bergmann S., 2012. Bmc Genomics, 13 (241) p. 241. Peer-reviewed.
 
Identification of an RP1 Prevalent Founder Mutation and Related Phenotype in Spanish Patients with Early-Onset Autosomal Recessive Retinitis.
Avila-Fernandez A., Corton M., Nishiguchi K.M., Muñoz-Sanz N., Benavides-Mori B., Blanco-Kelly F., Riveiro-Alvarez R., Garcia-Sandoval B., Rivolta C., Ayuso C., 2012. Ophthalmology, 119 (12) pp. 2616-2621. Peer-reviewed.
 
IL28B alleles associated with poor hepatitis C virus (HCV) clearance protect against inflammation and fibrosis in patients infected with non-1 HCV genotypes.
Bochud P.Y., Bibert S., Kutalik Z., Patin E., Guergnon J., Nalpas B., Goossens N., Kuske L., Müllhaupt B., Gerlach T. et al., 2012. Hepatology, 55 (2) pp. 384-394.
 
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function.
Chasman D.I., Fuchsberger C., Pattaro C., Teumer A., Böger C.A., Endlich K., Olden M., Chen M.H., Tin A., Taliun D. et al., 2012. Human Molecular Genetics, 21 (24) pp. 5329-5343. Peer-reviewed.
 
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.
Scott R.A., Lagou V., Welch R.P., Wheeler E., Montasser M.E., Luan J., Mägi R., Strawbridge R.J., Rehnberg E., Gustafsson S. et al., 2012. Nature Genetics, 44 (9) pp. 991-1005.
Mapping genetic variants associated with beta-adrenergic responses in inbred mice.
Hersch M., Peter B., Kang H.M., Schüpfer F., Abriel H., Pedrazzini T., Eskin E., Beckmann J.S., Bergmann S., Maurer F., 2012. Plos One, 7 (7) pp. e41032.
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
Stolk L., Perry J.R., Chasman D.I., He C., Mangino M., Sulem P., Barbalic M., Broer L., Byrne E.M., Ernst F. et al., 2012. Nature Genetics, 44 (3) pp. 260-268.
 
Modeling morphogen gradient formation from arbitrary realistically shaped sources.
Dalessi S., Neves A., Bergmann S., 2012. Journal of Theoretical Biology, 294 pp. 130-138.
 
Molecular genetics of charcot-marie-tooth disease: from genes to genomes.
Azzedine H., Senderek J., Rivolta C., Chrast R., 2012. Molecular Syndromology, 3 (5) pp. 204-214. Peer-reviewed.
 
No interactions between previously associated 2-hour glucose gene variants and physical activity or BMI on 2-hour glucose levels.
Scott R.A., Chu A.Y., Grarup N., Manning A.K., Hivert M.F., Shungin D., Tönjes A., Yesupriya A., Barnes D., Bouatia-Naji N. et al., 2012. Diabetes, 61 (5) pp. 1291-1296. Peer-reviewed.
Nuclear phytochrome a signaling promotes phototropism in Arabidopsis.
Kami C., Hersch M., Trevisan M., Genoud T., Hiltbrunner A., Bergmann S., Fankhauser C., 2012. Plant Cell, 24 (2) pp. 566-576.
Phytochrome Kinase Substrate 4 is phosphorylated by the phototropin 1 photoreceptor.
Demarsy E., Schepens I., Okajima K., Hersch M., Bergmann S., Christie J., Shimazaki K., Tokutomi S., Fankhauser C., 2012. EMBO Journal, 31 (16) pp. 3457-3467.
 
Recurrent mutations in the CDKL5 gene: Genotype-phenotype relationships.
Bahi-Buisson N., Villeneuve N., Caietta E., Jacquette A., Maurey H., Matthijs G., Van Esch H., Delahaye A., Moncla A., Milh M. et al., 2012. American Journal of Medical Genetics. Part A, 158A (7) pp. 1612-1619.
 
Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.
Lange C.M., Kutalik Z., Morikawa K., Bibert S., Cerny A., Dollenmaier G., Dufour J.F., Gerlach T.J., Heim M.H., Malinverni R. et al., 2012. Hepatology, 55 (4) pp. 1038-1047. Peer-reviewed.
Seventy-five genetic loci influencing the human red blood cell.
van der Harst P., Zhang W., Mateo Leach I., Rendon A., Verweij N., Sehmi J., Paul D.S., Elling U., Allayee H., Li X. et al., 2012. Nature, 492 (7429) pp. 369-375. Peer-reviewed.
The glucocorticoid-induced leucine zipper (gilz/tsc22d3-2) gene locus plays a crucial role in male fertility.
Suarez P.E., Rodriguez E.G., Soundararajan R., Mérillat A.M., Stehle J.C., Rotman S., Roger T., Voirol M.J., Wang J., Gross O. et al., 2012. Molecular Endocrinology, 26 (6) pp. 1000-1013.
 
A linear complexity phasing method for thousands of genomes.
Delaneau O, Marchini J, Zagury JF, 2011/12. Nature methods.
 
Understanding intrasexual competition and sexual selection requires an evolutionary ecology framework
Robinson Matthew R., 2011/11/01. Behavioral Ecology, 22 (6) pp. 1143-1144.
 
Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.
Kutalik Z., Benyamin B., Bergmann S., Mooser V., Waeber G., Montgomery G.W., Martin N.G., Madden P.A., Heath A.C., Beckmann J.S. et al., 2011/09/15. Human molecular genetics, 20 (18) pp. 3710-3717. Peer-reviewed.
CD39/adenosine pathway is involved in AIDS progression.
Nikolova M, Carriere M, Jenabian MA, Limou S, Younas M, Kök A, Huë S, Seddiki N, Hulin A, Delaneau O et al., 2011/07. PLoS pathogens.
Genome-wide association scan in HIV-1-infected individuals identifying variants influencing disease course.
van Manen D, Delaneau O, Kootstra NA, Boeser-Nunnink BD, Limou S, Bol SM, Burger JA, Zwinderman AH, Moerland PD, van 't Slot R et al., 2011/07. PloS one.
 
Genome-wide association study implicates PARD3B-based AIDS restriction.
Troyer JL, Nelson GW, Lautenberger JA, Chinn L, McIntosh C, Johnson RC, Sezgin E, Kessing B, Malasky M, Hendrickson SL et al., 2011/05. The Journal of infectious diseases.
 
Screening low-frequency SNPS from genome-wide association study reveals a new risk allele for progression to AIDS.
Le Clerc S, Coulonges C, Delaneau O, Van Manen D, Herbeck JT, Limou S, An P, Martinson JJ, Spadoni JL, Therwath A et al., 2011/03. Journal of acquired immune deficiency syndromes (1999).
A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol.
Surakka I., Isaacs A., Karssen L.C., Laurila P.P., Middelberg R.P., Tikkanen E., Ried J.S., Lamina C., Mangino M., Igl W. et al., 2011. PLoS Genetics, 7 (10) pp. e1002333. Peer-reviewed.
 
A hypomorphic mutation in lpin1 induces progressively improving neuropathy and lipodystrophy in the rat.
Mul J.D., Nadra K., Jagalur N.B., Nijman I.J., Toonen P.W., Médard J.J., Grès S., de Bruin A., Han G.S., Brouwers J.F. et al., 2011. Journal of Biological Chemistry, 286 (30) pp. 26781-93.
 
A hypomorphic mutation in lpin1 induces progressively improving peripheral neuropathy in the rat
Nadra K., Mul J. D., Jagalur N. B., Nijman I. J., Toonen P. W., Medard J.-.J., Gres S., de Bruin A., Han G.-.S., Carman G. M. et al., 2011. pp. S95 dans Meeting of the Peripheral Nerve Society, Journal of the Peripheral Nervous System. Peer-reviewed.
 
A large-scale genetic validation study coupled with in vitro analyses reveal a role for vitamin Dsignaling in the pathogenesis and response to treatment of hepatitis C virus infection
Lange C.M., Bibert S., Kutalik Z., Morikawa K., Cerny A., Dufour J.F., Gerlach T.J., Heim M.H., Malinverni R., Muellhaupt B. et al., 2011. pp. S537 dans 46th Annual Meeting of the European Association for the Study of the Liver (EASL), Journal of Hepatology. Peer-reviewed.
 
A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy.
Hor H., Bartesaghi L., Kutalik Z., Vicário J.L., de Andrés C., Pfister C., Lammers G.J., Guex N., Chrast R., Tafti M. et al., 2011. American Journal of Human Genetics, 89 (3) pp. 474-479.
 
A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa.
Tanackovic G., Ransijn A., Ayuso C., Harper S., Berson E.L., Rivolta C., 2011. American Journal of Human Genetics, 88 (5) pp. 643-649. Peer-reviewed.
 
Aging preferentially affects molecular pathways implicated in development and disease of myelinating glial cells
Verdier V., Csardi G., Charles de Preux A.S., Medard J.J., Verheijen M., Bergmann S., Chrast R., 2011. pp. S64 dans 10th European meeting on Glial Cells in Health and Disease, GLIA. Peer-reviewed.
 
Aging preferentially affects molecular pathways implicated in development and disease of myelinating glial cells
Verdier V., Csardi G., de Preux-Charles A.-.S., Medard J.-.J., Bergmann S., Verheijen M., Charst R., 2011. pp. S143-S143 dans Meeting of the Peripheral Nerve Society, Journal of the Peripheral Nervous System. Peer-reviewed.
Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD.
Böger C.A., Gorski M., Li M., Hoffmann M.M., Huang C., Yang Q., Teumer A., Krane V., O'Seaghdha C.M., Kutalik Z. et al., 2011. Plos Genetics, 7 (9) pp. e1002292. Peer-reviewed.
Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study.
Fox E.R., Young J.H., Li Y., Dreisbach A.W., Keating B.J., Musani S.K., Liu K., Morrison A.C., Ganesh S., Kutlar A. et al., 2011. Human Molecular Genetics, 20 (11) pp. 2273-2284. Peer-reviewed.
 
Brain energy consumption induced by electrical stimulation promotes systemic glucose uptake.
Binkofski F., Loebig M., Jauch-Chara K., Bergmann S., Melchert U.H., Scholand-Engler H.G., Schweiger U., Pellerin L., Oltmanns K.M., 2011. Biological Psychiatry, 70 (7) pp. 690-695.
Comparison of Strategies to Detect Epistasis from eQTL Data.
Kapur K., Schüpbach T., Xenarios I., Kutalik Z., Bergmann S., 2011. PLoS One, 6 (12) pp. e28415.
 
CUBN is a gene locus for albuminuria.
Böger C.A., Chen M.H., Tin A., Olden M., Köttgen A., de Boer I.H., Fuchsberger C., O'Seaghdha C.M., Pattaro C., Teumer A. et al., 2011. Journal of the American Society of Nephrology, 22 (3) pp. 555-570. Peer-reviewed.
Dpp signaling activity requires Pentagone to scale with tissue size in the growing Drosophila wing imaginal disc.
Hamaratoglu F., de Lachapelle A.M., Pyrowolakis G., Bergmann S., Affolter M., 2011. PLoS Biology, 9 (10) pp. e1001182.
 
Elevated serum f erritin is an independent predictor of severe liver fibrosis, steatosis, and treatment failure in chronic hepatitis C
Lange C.M., Kutalik Z., Morikawa K., Bibert S., Cerny A., Dufour J.F., Gerlach T.J., Heim M.H., Malinverni R., Müllhaupt B. et al., 2011. pp. 17S dans Annual Meeting of the Swiss Society of Gastroenterology, Swiss Society for Visceral Surgery, Swiss Association for the Study of the Liver, Swiss Medical Weekly. Peer-reviewed.
Formation of the long range Dpp morphogen gradient.
Schwank G., Dalessi S., Yang S.F., Yagi R., de Lachapelle A.M., Affolter M., Bergmann S., Basler K., 2011. Plos Biology, 9 (7) pp. e1001111. Peer-reviewed.
 
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
Wain L.V., Verwoert G.C., O'Reilly P.F., Shi G., Johnson T., Johnson A.D., Bochud M., Rice K.M., Henneman P., Smith A.V. et al., 2011. Nature Genetics, 43 (10) pp. 1005-1011. Peer-reviewed.
 
IL28B alleles associated with poor HCV clearance are protective against liver necroinflammatory activity and fibrosis progression in patients infected with non-1 HCV genotypes
Bochud P.Y., Bibert S., Kutalik Z., Patin E., Guergnon J., Nalpas B., Goossens N., Kuske L., Mullhaupt B., Gerlach T. et al., 2011. pp. 404A dans 62nd Annual Meeting of the American Association for the Study of Liver Diseases, Hepatology. Peer-reviewed.
 
IL28B polymorphisms leading to poor response to treatment are associated with low necroinflammatory activity and slow fibrosis progression in HCV genotype non-1-infected patients
Bochud P.Y., Bibert S., Kutalik Z., Goossens N., Muellhaupt B..., Gerlach T..., Heim M., Moradpour D., Cerny A., Malinverni R. et al., 2011. pp. S539 dans 46th Annual Meeting of the European Association for the Study of the Liver (EASL), Journal of Hepatology. Peer-reviewed.
 
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
Heid I.M., Jackson A.U., Randall J.C., Winkler T.W., Qi L., Steinthorsdottir V., Thorleifsson G., Zillikens M.C., Speliotes E.K., Mägi R. et al., 2011..
 
Methods for testing association between uncertain genotypes and quantitative traits.
Kutalik Z., Johnson T., Bochud M., Mooser V., Vollenweider P., Waeber G., Waterworth D., Beckmann J.S., Bergmann S., 2011. Biostatistics, 12 (1) pp. 1-17. Peer-reviewed.
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Jacquemont S., Reymond A., Zufferey F., Harewood L., Walters R.G., Kutalik Z., Martinet D., Shen Y., Valsesia A., Beckmann N.D. et al., 2011. Nature, 478 (7367) pp. 97-102.
Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma.
Valsesia A., Rimoldi D., Martinet D., Ibberson M., Benaglio P., Quadroni M., Waridel P., Gaillard M., Pidoux M., Rapin B. et al., 2011. PLoS One, 6 (4) pp. e18369. Peer-reviewed.
New gene functions in megakaryopoiesis and platelet formation.
Gieger C., Radhakrishnan A., Cvejic A., Tang W., Porcu E., Pistis G., Serbanovic-Canic J., Elling U., Goodall A.H., Labrune Y. et al., 2011. Nature, 480 (7376) pp. 201-208.
 
Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.
Benaglio P., McGee T.L., Capelli L.P., Harper S., Berson E.L., Rivolta C., 2011. Human Mutation, 32 (6) pp. E2246-E2258. Peer-reviewed.
 
Novel method to estimate the phenotypic variation explained by genome-wide association studies reveals large fraction of the missing heritability.
Kutalik Z., Whittaker J., Waterworth D., GIANT consortium, Beckmann J.S., Bergmann S., 2011. Genetic Epidemiology, 35 (5) pp. 341-349.
Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children.
Kilpeläinen T.O., Qi L., Brage S., Sharp S.J., Sonestedt E., Demerath E., Ahmad T., Mora S., Kaakinen M., Sandholt C.H. et al., 2011. PLoS Medicine, 8 (11) pp. e1001116. Peer-reviewed.
 
Potassium channel alterations mediate peripheral nerve hyperexcitability in a mouse model of type 2 diabetes mellitus
Zenker J., Poirot O., de Preux Charles A.-S., Arnaud E., Medard J.-.J., Chrast R., 2011. pp. S157 dans Meeting of the Peripheral Nerve Society, Journal of the Peripheral Nervous System. Peer-reviewed.
PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.
Tanackovic G., Ransijn A., Thibault P., Abou Elela S., Klinck R., Berson E.L., Chabot B., Rivolta C., 2011. Human Molecular Genetics, 20 (11) pp. 2116-2130. Peer-reviewed.
 
Role of the transcription factor sox4 in schwann cell development
Bartesaghi L., Arnaud E., Chrast R., 2011. pp. S54 dans 10th European Meeting on Glial Cells in Health and Disease, GLIA. Peer-reviewed.
Sensitivity of genome-wide-association signals to phenotyping strategy: the PROP-TAS2R38 taste association as a benchmark.
Genick U.K., Kutalik Z., Ledda M., Destito M.C., Souza M.M., Cirillo C.A., Godinot N., Martin N., Morya E., Sameshima K. et al., 2011. PLoS One, 6 (11) pp. e27745.
 
SIRT1 Activates MAO-A in the Brain to Mediate Anxiety and Exploratory Drive.
Libert S., Pointer K., Bell E.L., Das A., Cohen D.E., Asara J.M., Kapur K., Bergmann S., Preisig M., Otowa T. et al., 2011. Cell, 147 (7) pp. 1459-1472. Peer-reviewed.
 
The evolution of gene expression levels in mammalian organs.
Brawand D., Soumillon M., Necsulea A., Julien P., Csárdi G., Harrigan P., Weier M., Liechti A., Aximu-Petri A., Kircher M. et al., 2011. Nature, 478 (7369) pp. 343-348.
 
The role of matrix metalloproteinase mmp-9 in peripheral neural system regeneration
Pelsoczi P., Monin A., Nadra K., Medard J.J., Chrast R., 2011. pp. S53 dans 10th European meeting on Glial Cells in Health and Disease, GLIA. Peer-reviewed.
Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome.
Henrichsen C.N., Csárdi G., Zabot M.T., Fusco C., Bergmann S., Merla G., Reymond A., 2011. PLoS Computational Biology, 7 (1) pp. e1001054. Peer-reviewed.
 
Variant within the promoter region of the CHRNA3 gene associated with FTN dependence is not related to self-reported willingness to quit smoking.
Marques-Vidal P., Kutalik Z., Paccaud F., Bergmann S., Waeber G., Vollenweider P., Cornuz J., 2011. Nicotine and Tobacco Research, 13 (9) pp. 833-839. Peer-reviewed.
 
Variant within the promoter region of the CHRNA3 gene associated with nicotine dependance is not related to willingness to quit smoking.
Marques-Vidal Pedro Manuel, Kutalik Zoltan, Paccaud Fred, Bergmann Sven, Waeber Gérard, Vollenweider Peter, Cornuz Jacques, 2011. pp. S40 dans EuroPRevent Congress, Geneva, Switzerland, 14-16 April 2011, European Journal of Cardiovascular Prevention and Rehabilitation. Peer-reviewed.
Variant within the promoter region of the CHRNA3 gene associated with nicotine dependence is not related to willingness to quit smoking.
Marques-Vidal Pedro Manuel, Kutalik Zoltan, Paccaud Fred, Bergmann Sven, Waeber Gérard, Vollenweider Peter, Cornuz Jacques, 2011. p. 19 dans Cardiovascular and Metabolic Disorders, FBM Research Day, January 27, 2011, FBM Research Day, Université de Lausanne, Faculté de biologie et de médecine.
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
Speliotes E.K., Willer C.J., Berndt S.I., Monda K.L., Thorleifsson G., Jackson A.U., Lango Allen H., Lindgren C.M., Luan J., Mägi R. et al., 2010/11. Nature genetics, 42 (11) pp. 937-948. Peer-reviewed.
 
Multiple-cohort genetic association study reveals CXCR6 as a new chemokine receptor involved in long-term nonprogression to AIDS.
Limou S, Coulonges C, Herbeck JT, van Manen D, An P, Le Clerc S, Delaneau O, Diop G, Taing L, Montes M et al., 2010/09. The Journal of infectious diseases.
 
Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa.
Langmann T., Di Gioia S.A., Rau I., Stöhr H., Maksimovic N.S., Corbo J.C., Renner A.B., Zrenner E., Kumaramanickavel G., Karlstetter M. et al., 2010/09. American Journal of Human Genetics, 87 (3) pp. 376-381. Peer-reviewed.
 
Fine mapping of AHI1 as a schizophrenia susceptibility gene: from association to evolutionary evidence.
Torri F., Akelai A., Lupoli S., Sironi M., Amann-Zalcenstein D., Fumagalli M., Dal Fiume C., Ben-Asher E., Kanyas K., Cagliani R. et al., 2010/08. FASEB journal, 24 (8) pp. 3066-3082. Peer-reviewed.
Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.
Kapur K., Johnson T., Beckmann N.D., Sehmi J., Tanaka T., Kutalik Z., Styrkarsdottir U., Zhang W., Marek D., Gudbjartsson D.F. et al., 2010/07/22. PLoS genetics, 6 (7) pp. e1001035. Peer-reviewed.
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
Walters R.G., Jacquemont S., Valsesia A., de Smith A.J., Martinet D., Andersson J., Falchi M., Chen F., Andrieux J., Lobbens S. et al., 2010/02/04. Nature, 463 (7281) pp. 671-675. Peer-reviewed.
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
Dupuis J., Langenberg C., Prokopenko I., Saxena R., Soranzo N., Jackson A.U., Wheeler E., Glazer N.L., Bouatia-Naji N., Gloyn A.L. et al., 2010/02. Nature genetics, 42 (2) pp. 105-116. Peer-reviewed.
A dynamic model for stem cell homeostasis and patterning in Arabidopsis meristems.
Hohm Tim, Zitzler Eckart, Simon Ruediger, 2010. Plos One, 5 (2) p. 9189.
 
A hierarchical approach to model parameter optimization for developmental systems.
Hohm T., Zitzler E., 2010. Bio Systems, 102 (2-3) pp. 157-167.
EuroDia: a beta-cell gene expression resource.
Liechti R., Csárdi G., Bergmann S., Schütz F., Sengstag T., Boj S.F., Servitja J.M., Ferrer J., Van Lommel L., Schuit F. et al., 2010. Database, 2010 pp. baq024.
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A.
Cartoni R., Arnaud E., Médard J.J., Poirot O., Courvoisier D.S., Chrast R., Martinou J.C., 2010. Brain, 133 (Pt 5) pp. 1460-1469.
FastEpistasis: a high performance computing solution for quantitative trait epistasis.
Schüpbach T., Xenarios I., Bergmann S., Kapur K., 2010. Bioinformatics, 26 (11) pp. 1468-1469.
 
Genetic loci influencing kidney function and chronic kidney disease.
Chambers J.C., Zhang W., Lord G.M., van der Harst P., Lawlor D.A., Sehmi J.S., Gale D.P., Wass M.N., Ahmadi K.R., Bakker S.J. et al., 2010. Nature Genetics, 42 (5) pp. 373-375. Peer-reviewed.
 
Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association study.
Rauch A., Kutalik Z., Descombes P., Cai T., Di Iulio J., Mueller T., Bochud M., Battegay M., Bernasconi E., Borovicka J. et al., 2010. Gastroenterology, 138 (4) pp. 1338-45, 1345.e1-7. Peer-reviewed.
 
Genetic variation within adiponutrin is associated with lipoprotein metabolism and liver function
Kollerits B., Coassin S., Beckmann N. D., Teumer A., Kiechl S., Doering A., Kavousi M., Hunt S. C., Lamina C., Paulweber B. et al., 2010. p. 11 dans 78th Congress of the European-Atherosclerosis-Society, Atherosclerosis Supplements. Peer-reviewed.
 
Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.
Hor H., Kutalik Z., Dauvilliers Y., Valsesia A., Lammers G.J., Donjacour C.E., Iranzo A., Santamaria J., Peraita Adrados R., Vicario J.L. et al., 2010. Nature Genetics, 42 (9) pp. 786-789.
Global transcriptional programs in peripheral nerve endoneurium and DRG are resistant to the onset of type 1 diabetic neuropathy in Ins2 mice.
de Preux Charles A.S., Verdier V., Zenker J., Peter B., Médard J.J., Kuntzer T., Beckmann J.S., Bergmann S., Chrast R., 2010. Plos One, 5 (5) pp. e10832. Peer-reviewed.
 
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Lango Allen H., Estrada K., Lettre G., Berndt S.I., Weedon M.N., Rivadeneira F., Willer C.J., Jackson A.U., Vedantam S., Raychaudhuri S. et al., 2010. Nature, 467 (7317) pp. 832-838. Peer-reviewed.
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
Heid I.M., Jackson A.U., Randall J.C., Winkler T.W., Qi L., Steinthorsdottir V., Thorleifsson G., Zillikens M.C., Speliotes E.K., Mägi R. et al., 2010. Nature Genetics, 42 (11) pp. 949-960. Peer-reviewed.
Modular analysis of gene expression data with R.
Csárdi G., Kutalik Z., Bergmann S., 2010. Bioinformatics, 26 (10) pp. 1376-1377.
 
No interaction between alcohol consumption and HDL-related genes on HDL cholesterol levels.
Marques-Vidal Pedro, Bochud Murielle, Paccaud Fred, Waterworth Dawn, Bergmann Sven, Preisig Martin, Waeber Gérard, Vollenweider Peter, 2010. Atherosclerosis, 211 (1) pp. 551-557. Peer-reviewed.
 
No interaction between alcohol consumption and selected HDL-related genes on HDL levels
Marques-Vidal Pedro Manuel, Bochud Murielle, Paccaud Fred, Waterworth Dawn M., Bergmann Sven, Preisig Martin, Waeber Gérard, Vollenweider Peter, 2010. pp. S30 dans EuroPRrevent Congress, Prague, Czech Republic, 5-7 May 2010, European Journal of Cardiovascular Prevention and Rehabilitation.
 
Peroxisomal and microsomal lipid pathways associated with resistance to hepatic steatosis and reduced pro-inflammatory state.
Hall D., Poussin C., Velagapudi V.R., Empsen C., Joffraud M., Beckmann J.S., Geerts A.E., Ravussin Y., Ibberson M., Oresic M. et al., 2010. Journal of Biological Chemistry, 285 (40) pp. 31011-31023.
 
PPARgamma in placental angiogenesis.
Nadra K., Quignodon L., Sardella C., Joye E., Mucciolo A., Chrast R., Desvergne B., 2010. Endocrinology, 151 (10) pp. 4969-4981. Peer-reviewed.
Precision and scaling in morphogen gradient read-out.
de Lachapelle Aitana Morton, Bergmann Sven, 2010. Molecular Systems Biology, 6 p. 351.
SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling
Stendel Claudia, Roos Andreas, Kleine Henning, Arnaud Estelle, Oezcelik Murat, Sidiropoulos Paris N. M., Zenker Jennifer, Schuepfer Fanny, Lehmann Ute, Sobota Radoslaw M. et al., 2010. Brain, 133 (8) pp. 2462-2474. Peer-reviewed.
Ultra high throughput sequencing in human DNA variation detection: a comparative study on the NDUFA3-PRPF31 region.
Benaglio P., Rivolta C., 2010. PLoS One, 5 (9) pp. e13071. Peer-reviewed.
 
Genomewide association study of a rapid progression cohort identifies new susceptibility alleles for AIDS (ANRS Genomewide Association Study 03).
Le Clerc S, Limou S, Coulonges C, Carpentier W, Dina C, Taing L, Delaneau O, Labib T, Sladek R, ANRS Genomic Group et al., 2009/10. The Journal of infectious diseases.
Cardiovascular response to beta-adrenergic blockade or activation in 23 inbred mouse strains.
Berthonneche C., Peter B., Schüpfer F., Hayoz P., Kutalik Z., Abriel H., Pedrazzini T., Beckmann J.S., Bergmann S., Maurer F., 2009/08/12. PloS one, 4 (8) pp. e6610. Peer-reviewed.
 
Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).
Limou S, Le Clerc S, Coulonges C, Carpentier W, Dina C, Delaneau O, Labib T, Taing L, Sladek R, Deveau C et al., 2009/02. The Journal of infectious diseases.
A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.
Frio T.R., McGee T.L., Wade N.M., Iseli C., Beckmann J.S., Berson E.L., Rivolta C., 2009. Human Mutation, 30 (9) pp. 1340-1347. Peer-reviewed.
 
Association between C-reactive protein and adiposity in women.
Bochud M., Marquant F., Marques-Vidal P.M., Vollenweider P., Beckmann J.S., Mooser V., Paccaud F., Rousson V., 2009. Journal of Clinical Endocrinology and Metabolism, 94 (10) pp. 3969-3977. Peer-reviewed.
 
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
Senderek J., Garvey S.M., Krieger M., Guergueltcheva V., Urtizberea A., Roos A., Elbracht M., Stendel C., Tournev I., Mihailova V. et al., 2009. American Journal of Human Genetics, 84 (4) pp. 511-518. Peer-reviewed.
 
Characterization of the Morphological and Molecular Changes Associated with Diabetic Peripheral Neuropathy in Type 2 Diabetes
Zenker J., Charles A.S. de Preux , Arnaud E., Medard J.J., Chrast R., 2009. p. 31 dans 9th European Meeting on Glial Cells in Health and Disease, Glia. Peer-reviewed.
 
Development and Characterization of a Mouse Model of Charcot-Marie-Tooth Disease 4C
Arnaud E., Zenker J., Charles A.P. de Preux , Stendel C., Medard J.J., Tricaud N., Suter U., Senderek J., Chrast R., 2009. p. 112 dans 9th European Meeting on Glial Cells in Health and Disease, Glia. Peer-reviewed.
 
Erratum: Algorithm of OMA for large-scale orthology inference (BMC Bioinformatics (2008) vol. 9 (518))
Dessimoz Christophe, 2009. BMC Bioinformatics.
Evidence of a causal association between C-reactive protein and adiposity in women
Bochud Murielle, Marquant F., Marques-Vidal Pedro Manuel, Vollenweider Peter, Beckmann Jacques S., Mooser Vincent, Paccaud Fred, Rousson Valentin, 2009. pp. GEN-6, p. 37 dans Genes and Diseases, CHUV Research Day, January 29, 2009, Université de Lausanne, Faculté de biologie et de médecine.
 
Exploring Parallels Between Molecular Changes Induced in PNS by Aging and Demyelinating Neuropathies
Verdier V., de Preux-Charles A.S., Verheijen M., Chrast R., 2009. p. 117 dans 9th European Meeting on Glial Cells in Health and Disease, Glia. Peer-reviewed.
 
Generation and phenotypic analysis of protein s-deficient mice : OC-WE-037
Saller F., Brisset A.C., Azevedo M., Chrast R., Schapira M., Angelillo-Scherrer A., 2009. p. 216 dans 22nd Congress of the International Society on Thrombosis and Haemostasis, Journal of Thrombosis and Haemostasis.
Genetic evidence for a role of adiponutrin in the metabolism of apolipoprotein B-containing lipoproteins.
Kollerits B., Coassin S., Beckmann N.D., Teumer A., Kiechl S., Döring A., Kavousi M., Hunt S.C., Lamina C., Paulweber B. et al., 2009. Human Molecular Genetics, 18 (23) pp. 4669-4676.
Genome-wide association study identifies eight loci associated with blood pressure.
Newton-Cheh C., Johnson T., Gateva V., Tobin M.D., Bochud M., Coin L., Najjar S.S., Zhao J.H., Heath S.C., Eyheramendy S. et al., 2009. Nature Genetics, 41 (6) pp. 666-676. Peer-reviewed.
 
Hypomyelination Caused by Scap Deletion is Slowly Rescued by Extracellular Lipids that Alter Myelin Structure
Verheijen M., Camargo N., Verdier V., Nadra K., Luoma A., Brouwers J., Feltri M., Wrabetz L., Kirschner D., Chrast R. et al., 2009. p. 112 dans 9th European Meeting on Glial Cells in Health and Disease, Glia. Peer-reviewed.
 
KIAA1985, a Protein Mutant in Charcot-Marie-Tooth Neuropathy, Links Peripheral Nerve Myelination to Endosomal Recycling Pathways
Stendel C., Roos A., Arnaud E., Zenker J., Oezcelik M., Schuchlautz H., Weis J., Lehmann U., Sobota R., Tricaud N. et al., 2009. p. 95 dans 9th European Meeting on Glial Cells in Health and Disease, Glia. Peer-reviewed.
 
La surveillance active dans la prise en charge du cancer de la prostate précoce. [Active surveillance for early-stage prostate cancer]
Jichlinski P., Berthold D. R., Zouhair A., Griesser A. C., Meuwly J. Y., Prior J. O., Lhermitte B., Doerfler A., Treuthardt C., Praz V. et al., 2009. Revue médicale suisse, 5 (228) pp. 2442-4, 2446-7.
 
Limb-girdle Muscular Dystrophy Type 2A Can Result from Accelerated Autoproteolytic Inactivation of Calpain 3.
Garnham C., Hanna R., Chou J., Low K., Gourlay K., Campbell R., Beckmann J., Davies P., 2009. Biochemistry, 48 (15) pp. 3457-3467. Peer-reviewed.
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
Kolz M., Johnson T., Sanna S., Teumer A., Vitart V., Perola M., Mangino M., Albrecht E., Wallace C., Farrall M. et al., 2009. PLoS genetics, 5 (6) pp. e1000504. Peer-reviewed.
Molecular autopsy in sudden cardiac death and its implication for families: discussion of the practical, legal and ethical aspects of the multidisciplinary collaboration.
Michaud K., Fellmann F., Abriel H., Beckmann J.S., Mangin P., Elger B.S., 2009. Swiss Medical Weekly, 139 (49-50) pp. 712-8.
 
Mutation screening of the glutamate cysteine ligase modifier (GCLM) gene in patients with schizophrenia.
Butticaz C., Werge T., Beckmann J.S., Cuénod M., Do K.Q., Rivolta C., 2009. Psychiatric genetics, 19 (4) pp. 201-8. Peer-reviewed.
 
Parameter estimation for the distribution of single cell lag times.
Baranyi J., George S.M., Kutalik Z., 2009. Journal of Theoretical Biology, 259 (1) pp. 24-30.
 
PRPF31 alternative splicing and expression in human retina
Tanackovic G., Rivolta C., 2009. Ophthalmic Genetics, 30 (2) pp. 76-83. Peer-reviewed.
 
Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score--the CoLaus Study.
Lin X., Song K., Lim N., Yuan X., Johnson T., Abderrahmani A., Vollenweider P., Stirnadel H., Sundseth S.S., Lai E. et al., 2009. Diabetologia, 52 (4) pp. 600-608.
 
SCAP is required for timely and proper myelin membrane synthesis.
Verheijen Mark H. G., Camargo Nutabi, Verdier Valerie, Nadra Karim, Charles Anne-Sophie de Preux, Medard Jean-Jacques, Luoma Adrienne, Crowther Michelle, Inouye Hideyo, Shimano Hitoshi et al., 2009. Proceedings of the National Academy of Sciences of the United States of America, 106 (50) pp. 21383-21388.
 
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
Arnaud E., Zenker J., de Preux Charles A.S., Stendel C., Roos A., Médard J.J., Tricaud N., Weis J., Suter U., Senderek J. et al., 2009. Proceedings of the National Academy of Sciences of the United States of America, 106 (41) pp. 17528-17533.
Sharing data between LSDBs and central repositories.
den Dunnen J.T., Sijmons R.H., Andersen P.S., Vihinen M., Beckmann J.S., Rossetti S., Talbot C.C., Hardison R.C., Povey S., Cotton R.G., 2009. Human Mutation, 30 (4) pp. 493-495. Peer-reviewed.
The Microbe browser for comparative genomics.
Gattiker A., Dessimoz C., Schneider A., Xenarios I., Pagni M., Rougemont J., 2009. Nucleic Acids Research, 37 (Web Server issue) pp. W296-W299.
Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.
Rio Frio T., Panek S., Iseli C., Di Gioia S.A., Kumar A., Gal A., Rivolta C., 2009. Molecular Vision, 15 pp. 2627-2633. Peer-reviewed.
Variants in MTNR1B influence fasting glucose levels.
Prokopenko I., Langenberg C., Florez J.C., Saxena R., Soranzo N., Thorleifsson G., Loos R.J., Manning A.K., Jackson A.U., Aulchenko Y. et al., 2009. Nature Genetics, 41 (1) pp. 77-81. Peer-reviewed.
Shape-IT: new rapid and accurate algorithm for haplotype inference.
Delaneau O, Coulonges C, Zagury JF, 2008/12. BMC bioinformatics.
 
Alignments with non-overlapping moves, inversions and tandem duplications in O(n 4) time
Ledergerber Christian, Dessimoz Christophe, 2008/10., 16 3, Springer Science and Business Media LLC.
Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.
Beckmann J.S., Spencer M., 2008. Neuromuscular Disorders, 18 (12) pp. 913-921. Peer-reviewed.
 
CNVs and genetic medicine (excitement and consequences of a rediscovery).
Beckmann J.S., Sharp A.J., Antonarakis S.E., 2008. Cytogenetic and Genome Research, 123 (1-4) pp. 7-16.
 
Computational problems in perfect phylogeny haplotyping: typing without calling the allele.
Barzuza T., Beckmann J.S., Shamir R., Pe'er I., 2008. IEEE/ACM transactions on computational biology and bioinformatics / IEEE, ACM, 5 (1) pp. 101-109. Peer-reviewed.
Genes mirror geography within Europe.
Novembre J., Johnson T., Bryc K., Kutalik Z., Boyko A.R., Auton A., Indap A., King K.S., Bergmann S., Nelson M.R. et al., 2008. Nature, 456 (7218) pp. 98-101. Peer-reviewed.
Genome-wide association analysis identifies 20 loci that influence adult height.
Weedon M.N., Lango H., Lindgren C.M., Wallace C., Evans D.M., Mangino M., Freathy R.M., Perry J.R., Stevens S., Hall A.S. et al., 2008. Nature Genetics, 40 (5) pp. 575-83. Peer-reviewed.
 
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
Yuan X., Waterworth D., Perry J.R., Lim N., Song K., Chambers J.C., Zhang W., Vollenweider P., Stirnadel H., Johnson T. et al., 2008. American Journal of Human Genetics, 83 (4) pp. 520-528. Peer-reviewed.
 
Re-examining the stability of the Bicoid morphogen gradient.
Bergmann S., Tamari Z., Schejter E., Shilo B.Z., Barkai N., 2008. Cell, 132 (1) pp. 15-17; author reply 17-188. Peer-reviewed.
Recommendations for locus-specific databases and their curation.
Cotton R.G., Auerbach A.D., Beckmann J.S., Blumenfeld O.O., Brookes A.J., Brown A.F., Carrera P., Cox D.W., Gottlieb B., Greenblatt M.S. et al., 2008. Human Mutation, 29 (1) pp. 2-5. Peer-reviewed.
SWPS3 – fast multi-threaded vectorized Smith-Waterman for IBM Cell/B.E. and ×86/SSE2
Szalkowski Adam, Ledergerber Christian, Krähenbühl Philipp, Dessimoz Christophe, 2008. BMC Research Notes, 1 (1) p. 107.
 
Proboscidean Mitogenomics: Chronology and Mode of Elephant Evolution Using Mastodon as Outgroup
Rohland Nadin, Malaspinas Anna-Sapfo, Pollack Joshua L, Slatkin Montgomery, Matheus Paul, Hofreiter Michael, 2007/07. PLoS Biology, 5 (8) pp. e207.
ISHAPE: new rapid and accurate software for haplotyping.
Delaneau O, Coulonges C, Boelle PY, Nelson G, Spadoni JL, Zagury JF, 2007/06. BMC bioinformatics.
 
Contribution of 20 single nucleotide polymorphisms of 13 genes to dyslipidemia associated with antiretroviral therapy.
Arnedo M., Taffé P., Sahli R., Furrer H., Hirschel B., Elzi L., Weber R., Vernazza P., Bernasconi E., Darioli R. et al., 2007. Pharmacogenetics and Genomics, 17 (9) pp. 755-764. Peer-reviewed.
 
Estimating parameters for generalized mass action models using constraint propagation.
Tucker W., Kutalik Z., Moulton V., 2007. Mathematical Biosciences, 208 (2) pp. 607-620.
 
S-system parameter estimation for noisy metabolic profiles using newton-flow analysis.
Kutalik Z., Tucker W., Moulton V., 2007. IET Systems Biology, 1 (3) pp. 174-180.
Computation of haplotypes on SNPs subsets: advantage of the "global method".
Coulonges C, Delaneau O, Girard M, Do H, Adkins R, Spadoni JL, Zagury JF, 2006/10. BMC genetics.
 
Louise Anderson (1953-2005) - Obituary
Beckmann J. S., Kaplan J. C., 2005/11. Neuromuscular Disorders, 15 (11) pp. 820-820. Peer-reviewed.
 
Essential Bacillus subtilis genes.
Kobayashi K., Ehrlich S.D., Albertini A., Amati G., Andersen K.K., Arnaud M., Asai K., Ashikaga S., Aymerich S., Bessieres P. et al., 2003. Proceedings of the National Academy of Sciences of the United States of America, 100 (8) pp. 4678-4683. Peer-reviewed.
 
A novel highly informative polyA microsatellite on the telomeric side of the INK4a/ARF locus
Chaubert P., Burri N., Cousin P., Shaw P., 2001. Molecular and Cellular Probes, 15 (3) pp. 183-185.
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