Jacques Beckmann

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430 publications

2023 | 2022 | 2021 | 2020 | 2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | ...
2023
 
Drug-target identification in COVID-19 disease mechanisms using computational systems biology approaches.
Niarakis A., Ostaszewski M., Mazein A., Kuperstein I., Kutmon M., Gillespie M.E., Funahashi A., Acencio M.L., Hemedan A., Aichem M. et al., 2023. Frontiers in immunology, 14 p. 1282859. Peer-reviewed.
[DOI][Pmid][serval:BIB_6275E3C6D1A9]
2022
 
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Jacobsen JOB, Baudis M., Baynam G.S., Beckmann J.S., Beltran S., Buske O.J., Callahan T.J., Chute C.G., Courtot M., Danis D. et al., 2022/06. Nature biotechnology, 40 (6) pp. 817-820. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_33B45C21C858]
2021
GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Rehm H.L., Page AJH, Smith L., Adams J.B., Alterovitz G., Babb L.J., Barkley M.P., Baudis M., Beauvais MJS, Beck T. et al., 2021/11/10. Cell genomics, 1 (2) p. 100029. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_0C82FBDFD245]
COVID19 Disease Map, a computational knowledge repository of virus-host interaction mechanisms.
Ostaszewski M., Niarakis A., Mazein A., Kuperstein I., Phair R., Orta-Resendiz A., Singh V., Aghamiri S.S., Acencio M.L., Glaab E. et al., 2021/10. Molecular systems biology, 17 (10) pp. e10387. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_1A41D5739AA2]
Great future or greedy venture: Precision medicine needs philosophy.
Jiao F., Guo R., Beckmann J.S., Yan Z., Yang Y., Hu J., Wang X., Xie S., 2021/09. Health science reports, 4 (3) pp. e376. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_28C3E384BE78]
Genome-wide association study identifies 48 common genetic variants associated with handedness.
Cuellar-Partida G., Tung J.Y., Eriksson N., Albrecht E., Aliev F., Andreassen O.A., Barroso I., Beckmann J.S., Boks M.P., Boomsma D.I. et al., 2021/01. Nature human behaviour, 5 (1) pp. 59-70. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E7424914D13E]
2020
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer.
Wagner A.H., Walsh B., Mayfield G., Tamborero D., Sonkin D., Krysiak K., Deu-Pons J., Duren R.P., Gao J., McMurry J. et al., 2020/04. Nature genetics, 52 (4) pp. 448-457. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_20B4C06420B1]
2019
 
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations.
Cárdenas-de-la-Parra A., Martin-Brevet S., Moreau C., Rodriguez-Herreros B., Fonov V.S., Maillard A.M., Zürcher N.R., 16p11.2 European Consortium, Hadjikhani N., Beckmann J.S. et al., 2019/12. NeuroImage, 203 p. 116155. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5A4DF428C3C1]
2018
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.
Martin-Brevet S., Rodríguez-Herreros B., Nielsen J.A., Moreau C., Modenato C., Maillard A.M., Pain A., Richetin S., Jønch A.E., Qureshi A.Y. et al., 2018/08/15. Biological psychiatry, 84 (4) pp. 253-264. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8964BF69CE74]
2017
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.
Macé A., Tuke M.A., Deelen P., Kristiansson K., Mattsson H., Nõukas M., Sapkota Y., Schick U., Porcu E., Rüeger S. et al., 2017/09/29. Nature communications, 8 (1) p. 744. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_220FBAC01D96]
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Loviglio M.N., Leleu M., Männik K., Passeggeri M., Giannuzzi G., van der Werf I., Waszak S.M., Zazhytska M., Roberts-Caldeira I., Gheldof N. et al., 2017. Molecular Psychiatry, 22 (6) pp. 836-849. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8773892CB036]
2016
 
New quality measure for SNP array based CNV detection.
Macé A., Tuke M.A., Beckmann J.S., Lin L., Jacquemont S., Weedon M.N., Reymond A., Kutalik Z., 2016/11/01. Bioinformatics (Oxford, England), 32 (21) pp. 3298-3305. Peer-reviewed.
[DOI][Pmid][serval:BIB_ACB3FE673051]
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.
Hippolyte L., Maillard A.M., Rodriguez-Herreros B., Pain A., Martin-Brevet S., Ferrari C., Conus P., Macé A., Hadjikhani N., Metspalu A. et al., 2016/07/15. Biological psychiatry, 80 (2) pp. 129-139. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_9660DE6D30D1]
 
16p11.2 Locus modulates response to satiety before the onset of obesity.
Maillard A.M., Hippolyte L., Rodriguez-Herreros B., Chawner S.J., Dremmel D., Agüera Z., Fagundo A.B., Pain A., Martin-Brevet S., Hilbert A. et al., 2016/05. International journal of obesity, 40 (5) pp. 870-876. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DF2B3B0B794D]
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]
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
Pattaro C., Teumer A., Gorski M., Chu A.Y., Li M., Mijatovic V., Garnaas M., Tin A., Sorice R., Li Y. et al., 2016. Nature Communications, 7 p. 10023. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_53B973F55248]
 
Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.
Teumer A., Tin A., Sorice R., Gorski M., Yeo N.C., Chu A.Y., Li M., Li Y., Mijatovic V., Ko Y.A. et al., 2016. Diabetes, 65 (3) pp. 803-817. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_F3223C4A8D96]
 
IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation.
Fellmann F., Angelini F., Wassenberg J., Perreau M., Arenas Ramirez N., Simon G., Boyman O., Demaria O., Christen-Zaech S., Hohl D. et al., 2016. Journal of Allergy and Clinical Immunology, 137 (4) pp. 1189-96.e1-2. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D933D1DD0E0F]
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]
2015
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.
Maillard A.M., Ruef A., Pizzagalli F., Migliavacca E., Hippolyte L., Adaszewski S., Dukart J., Ferrari C., Conus P., Männik K. et al., 2015/02. Molecular psychiatry, 20 (1) pp. 140-147. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_02ADC1E92D32]
 
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
Migliavacca E., Golzio C., Männik K., Blumenthal I., Oh E.C., Harewood L., Kosmicki J.A., Loviglio M.N., Giannuzzi G., Hippolyte L. et al., 2015. American Journal of Human Genetics, 96 (5) pp. 784-796.
[DOI][WoS][Pmid][serval:BIB_9689D2C97A3A]
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]
2014
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler E.M., Lal D., Lebon S., Hildebrand M.S., Dahl H.H., Regan B.M., Feucht M., Steinböck H., Neophytou B., Ronen G.M. et al., 2014. Human Molecular Genetics, 23 (22) pp. 6069-6080. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_30D0F629E19F]
 
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]
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]
 
Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriers.
Hippolyte L., Battistella G., Perrin A.G., Fornari E., Cornish K.M., Beckmann J.S., Niederhauser J., Vingerhoets F.J., Draganski B., Maeder P. et al., 2014. Neurobiology of Aging, 35 (8) pp. 1939-1946.
[DOI][WoS][Pmid][serval:BIB_4410A99BD4BD]
 
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
Bonafé L., Liang J., Gorna M.W., Zhang Q., Ha-Vinh R., Campos-Xavier A.B., Unger S., Beckmann J.S., Le Béchec A., Stevenson B. et al., 2014. American Journal of Medical Genetics. Part A, 164 (5) pp. 1175-1179. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_AA520EFE4A1E]
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]
Quality control and conduct of genome-wide association meta-analyses.
Winkler T.W., Day F.R., Croteau-Chonka D.C., Wood A.R., Locke A.E., Mägi R., Ferreira T., Fall T., Graff M., Justice A.E. et al., 2014. Nature Protocols, 9 (5) pp. 1192-1212. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_05D9949A5AAE]
2013
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]
Discovery and refinement of loci associated with lipid levels.
Global Lipids Genetics Consortium, Willer C.J., Willer C.J., Schmidt E.M., Sengupta S., Peloso G.M., Gustafsson S., Kanoni S., Ganna A., Chen J. et al., 2013. Nature Genetics, 45 (11) pp. 1274-1283.
[URN][DOI][WoS][Pmid][serval:BIB_4F479093D7BD]
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.
[URN][DOI][WoS][Pmid][serval:BIB_9C345D77E5E2]
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.
[URN][DOI][WoS][Pmid][serval:BIB_1BC1C0DFA15B]
Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain.
Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D. et al., 2013. Human Mutation, 34 (6) pp. 801-811. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_FA8E13315D59]
Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.
Walters R.G., Coin L.J., Ruokonen A., de Smith A.J., El-Sayed Moustafa J.S., Jacquemont S., Elliott P., Esko T., Hartikainen A.L., Laitinen J. et al., 2013. Plos One, 8 (3) pp. e58048.
[URN][DOI][WoS][Pmid][serval:BIB_0257103FC0D5]
 
SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant.
Dauber A., Golzio C., Guenot C., Jodelka F.M., Kibaek M., Kjaergaard S., Leheup B., Martinet D., Nowaczyk M.J., Rosenfeld J.A. et al., 2013. American Journal of Human Genetics, 93 (5) pp. 798-811. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_CFDAC5AB879E]
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.
[URN][DOI][WoS][Pmid][serval:BIB_9D9E2CFE0188]
 
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.
[DOI][WoS][Pmid][serval:BIB_E89DF13F8E2E]
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.
[URN][DOI][Pmid][serval:BIB_3366F05BAD80]
 
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.
[DOI][WoS][Pmid][serval:BIB_6A11A7D60B9D]
2012
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
Okada Y., Sim X., Go M.J., Wu J.Y., Gu D., Takeuchi F., Takahashi A., Maeda S., Tsunoda T., Chen P. et al., 2012/07/15. Nature genetics, 44 (8) pp. 904-909. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_D0781ADDDA56]
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.
[URN][DOI][Pmid][serval:BIB_73F3460C24D9]
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.
[URN][DOI][WoS][Pmid][serval:BIB_26004E3F396F]
 
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.
[DOI][WoS][Pmid][serval:BIB_D4DFE0570968]
 
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.
[URN][DOI][WoS][Pmid][serval:BIB_1D2BE11940C7]
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.
[URN][DOI][WoS][Pmid][serval:BIB_ADF180AFD031]
 
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.
[DOI][WoS][Pmid][serval:BIB_6F3F7F30A59D]
 
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.
[DOI][WoS][Pmid][serval:BIB_C2FCD67DF461]
 
Genetic testing in patients with obesity.
Phan-Hug F., Beckmann J.S., Jacquemont S., 2012. Best Practice and Research. Clinical Endocrinology and Metabolism, 26 (2) pp. 133-143.
[DOI][WoS][Pmid][serval:BIB_68A46A83BA72]
Genome-wide meta-analysis of common variant differences between men and women.
Boraska V., Jerončić A., Colonna V., Southam L., Nyholt D.R., Rayner N.W., Perry J.R., Toniolo D., Albrecht E., Ang W. et al., 2012. Human Molecular Genetics, 21 (21) pp. 4805-4815.
[URN][DOI][WoS][Pmid][serval:BIB_2CA8E459946D]
 
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.
[DOI][WoS][Pmid][serval:BIB_7BFB71DF48D8]
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.
[URN][DOI][WoS][Pmid][serval:BIB_B4A4552A9706]
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
Golzio C., Willer J., Talkowski M.E., Oh E.C., Taniguchi Y., Jacquemont S., Reymond A., Sun M., Sawa A., Gusella J.F. et al., 2012. Nature, 485 (7398) pp. 363-367.
[URN][DOI][WoS][Pmid][serval:BIB_FE45367483B8]
 
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.
[DOI][WoS][Pmid][serval:BIB_BEBA1C67CD92]
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.
[URN][DOI][WoS][Pmid][serval:BIB_F62EE85BCBC4]
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.
[URN][DOI][WoS][Pmid][serval:BIB_F3EFAC2A846A]
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P., Kulkarni S., Dharmadhikari A.V., Sampath S., Bhatt S.S., Shaikh T.H., Xia Z., Pursley A.N., Cooper M.L., Shinawi M. et al., 2012. Human Mutation, 33 (1) pp. 165-179.
[URN][DOI][WoS][Pmid][serval:BIB_821E7FE324C6]
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.
[URN][DOI][WoS][Pmid][serval:BIB_A33D6D054D38]
2011
 
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Chambers J.C., Zhang W., Sehmi J., Li X., Wass M.N., Van der Harst P., Holm H., Sanna S., Kavousi M., Baumeister S.E. et al., 2011/10/16. Nature genetics, 43 (11) pp. 1131-1138. Peer-reviewed.
[DOI][Pmid][serval:BIB_C64416CF49EE]
 
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.
[DOI][WoS][Pmid][serval:BIB_4CBEDBD36408]
16q24.1 microdeletion in a premature newborn: Usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.
Zufferey F., Martinet D., Osterheld M.C., Niel-Bütschi F., Giannoni E., Schmutz N.B., Xia Z., Beckmann J.S., Shaw-Smith C., Stankiewicz P. et al., 2011. Pediatric Critical Care Medicine, 12 (6) pp. e427-e432.
[URN][DOI][WoS][Pmid][serval:BIB_747CB93CF782]
 
Antagonism of mGluR5 in Fragile X: A Randomized, Placebo-Controlled, Proof-of-Concept Study of AFQ056, a Novel, Sub-Type Selective mGluR5 Antagonist
Gomez-Mancilla B., Jacquemont S., Curie A., des Portes V., Torrioli M.G., Berry-Kravis E., Hagerman R.J., Ramos F.J., Cornish K.i.m., He Y. et al., 2011. p. 25 dans 7th International Meeting on Metabotropic Glutamate Receptors, Current Neuropharmacology. Peer-reviewed.
[WoS][serval:BIB_A0E03400D098]
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.
[URN][DOI][WoS][Pmid][serval:BIB_CB7DEB898419]
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.
[URN][DOI][WoS][Pmid][serval:BIB_AE8CBFCBEF3C]
 
Biopsie à l'aiguille fine et analyse moléculaire dans le mélanome de l'uvée
Moulin A., Schalenbourg A., Zografos L., Beckmann J., Martinet D., 2011., Société Suisse d'Ophtalmologie pp. S48 dans Ophta.
[serval:BIB_2D6DC0C28240]
 
Clarity and claims in variation/mutation databasing.
Dalgleish R., Oetting W.S., Auerbach A.D., Beckmann J.S., Cambon-Thomsen A., Devereau A., Greenblatt M.S., Patrinos G.P., Taylor G.R., Vihinen M. et al., 2011. Nature Biotechnology, 29 (9) pp. 790-792.
[DOI][WoS][Pmid][serval:BIB_33BFF37FDB3F]
 
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.
[DOI][WoS][Pmid][serval:BIB_61D7BB6FF101]
Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53.
Ferrarini A., Auteri-Kaczmarek A., Pica A., Boesch N., Heinimann K., Schäfer S.C., Vesnaver-Megalo S., Cina V., Beckmann J.S., Monnerat C., 2011. Familial Cancer, 10 (2) pp. 187-192.
[URN][DOI][WoS][Pmid][serval:BIB_28AEEE440C11]
 
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.
Jacquemont S., Curie A., des Portes V., Torrioli M.G., Berry-Kravis E., Hagerman R.J., Ramos F.J., Cornish K., He Y., Paulding C. et al., 2011. Science Translational Medicine, 3 (64) pp. 64ra1.
[DOI][WoS][Pmid][serval:BIB_945CB8727509]
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
International Consortium for Blood Pressure Genome-Wide Association Studies, Ehret G.B., Munroe P.B., Rice K.M., Bochud M., Johnson A.D., Chasman D.I., Smith A.V., Tobin M.D., Verwoert G.C. et al., 2011. Nature, 478 (7367) pp. 103-109. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_1DC9105514C9]
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.
Kilpeläinen T.O., Zillikens M.C., Stančákova A., Finucane F.M., Ried J.S., Langenberg C., Zhang W., Beckmann J.S., Luan J., Vandenput L. et al., 2011. Nature Genetics, 43 (8) pp. 753-760.
[URN][DOI][WoS][Pmid][serval:BIB_342B86FD2B66]
 
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.
[DOI][WoS][Pmid][serval:BIB_DBEEF95D2F27]
High-level transgene expression by homologous recombination-mediated gene transfer.
Grandjean M., Girod P.A., Calabrese D., Kostyrko K., Wicht M., Yerly F., Mazza C., Beckmann J.S., Martinet D., Mermod N., 2011. Nucleic Acids Research, 39 (15) pp. e104.
[URN][DOI][WoS][Pmid][serval:BIB_ADEE6654D99A]
 
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..
[DOI][WoS][Pmid][serval:BIB_67F98C917797]
 
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.
[DOI][WoS][Pmid][serval:BIB_3B14FBDAAC90]
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.
[URN][DOI][WoS][Pmid][serval:BIB_9700E363D9A2]
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.
[URN][DOI][WoS][Pmid][serval:BIB_5E0D3CDAAC7D]
 
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.
[DOI][WoS][Pmid][serval:BIB_EE565D42F520]
 
The phenotype of recurrent 10q22q23 deletions and duplications.
van Bon B.W., Balciuniene J., Fruhman G., Nagamani S.C., Broome D.L., Cameron E., Martinet D., Roulet E., Jacquemont S., Beckmann J.S. et al., 2011. European Journal of Human Genetics, 19 (4) pp. 400-408.
[DOI][WoS][Pmid][serval:BIB_3D6033553CEB]
2010
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.
[URN][DOI][WoS][Pmid][serval:BIB_EECD3DE17F7A]
 
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
Ikram M.K., Sim X., Xueling S., Jensen R.A., Cotch M.F., Hewitt A.W., Ikram M.A., Wang J.J., Klein R., Klein B.E. et al., 2010/10. Plos Genetics, 6 (10) pp. e1001184.
[DOI][WoS][Pmid][serval:BIB_E7F8CE13378B]
 
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.
[DOI][WoS][Pmid][serval:BIB_BBFEE310C2C7]
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.
[URN][DOI][WoS][Pmid][serval:BIB_A16A030D2C1D]
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.
[URN][DOI][WoS][Pmid][serval:BIB_779A2B29ACBA]
 
[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis.
de Prada Merino A., Bütschi F.N., Bouchardy I., Beckmann J.S., Morris M.A., Hafen G.M., Fellmann F., 2010. Journal of Cystic Fibrosis, 9 (6) pp. 447-449.
[DOI][WoS][Pmid][serval:BIB_2588B381B5B6]
 
Common variants in the ATP2B1 gene are associated with susceptibility to hypertension: the Japanese Millennium Genome Project.
Tabara Y., Kohara K., Kita Y., Hirawa N., Katsuya T., Ohkubo T., Hiura Y., Tajima A., Morisaki T., Miyata T. et al., 2010. Hypertension, 56 (5) pp. 973-980. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_95F8890DDD43]
 
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.
[DOI][WoS][Pmid][serval:BIB_55509FC8B9C3]
 
Genetic male infertility and mutation of CATSPER ion channels.
Hildebrand M.S., Avenarius M.R., Fellous M., Zhang Y., Meyer N.C., Auer J., Serres C., Kahrizi K., Najmabadi H., Beckmann J.S. et al., 2010. European Journal of Human Genetics, 18 (11) pp. 1178-1184.
[DOI][WoS][Pmid][serval:BIB_3993406DE3FD]
 
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.
[DOI][WoS][Pmid][serval:BIB_0243EEF97C35]
 
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.
[DOI][WoS][Pmid][serval:BIB_CFB40FFC4F99]
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.
[URN][DOI][WoS][Pmid][serval:BIB_91FD99554B4D]
 
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.
[DOI][WoS][Pmid][serval:BIB_AD5207EA1C25]
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.
[URN][DOI][WoS][Pmid][serval:BIB_0DA88425D5DD]
 
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.
[DOI][WoS][Pmid][serval:BIB_5C7339688FC7]
2009
Common genetic variation and the control of HIV-1 in humans.
Fellay J., Ge D., Shianna K.V., Colombo S., Ledergerber B., Cirulli E.T., Urban T.J., Zhang K., Gumbs C.E., Smith J.P. et al., 2009/12. PLoS genetics, 5 (12) pp. e1000791. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_86D58F4F4348]
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.
[URN][DOI][WoS][Pmid][serval:BIB_A6F224D4DEB1]
 
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.
[DOI][WoS][Pmid][serval:BIB_A69EB62E1EDA]
 
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.
[DOI][WoS][Pmid][serval:BIB_85168E77461E]
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.
[URN][serval:BIB_76A46086B1DF]
 
Familial occurrence of an association of multiple intestinal atresia and choanal atresia: a new syndrome?
Ferrarini A., Osterheld M.C., Vial Y., de Viragh P.A., Cotting J., Martinet D., Beckmann J.S., Fellmann F., 2009. American journal of medical genetics. Part A, 149A (12) pp. 2661-5.
[DOI][WoS][Pmid][serval:BIB_D9BA43D9C73A]
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.
[URN][DOI][WoS][Pmid][serval:BIB_BF347FE89719]
JNK3 is abundant in insulin-secreting cells and protects against cytokine-induced apoptosis.
Abdelli S., Puyal J., Bielmann C., Buchillier V., Abderrahmani A., Clarke P.G.H., Beckmann J.S., Bonny C., 2009. Diabetologia, 52 (9) pp. 1871-1880. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_3B33E102FE6E]
 
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.
[Pmid][serval:BIB_66220A2D6BE9]
 
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.
[DOI][WoS][Pmid][serval:BIB_227C192595BC]
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.
[URN][DOI][WoS][Pmid][serval:BIB_EB1294600DF4]
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.
[URN][WoS][Pmid][serval:BIB_D9D298C07B1F]
 
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.
[DOI][WoS][Pmid][serval:BIB_08D720EF4F22]
 
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
Campos-Xavier A.B., Martinet D., Bateman J., Belluoccio D., Rowley L., Tan T.Y., Baxová A., Gustavson K.H., Borochowitz Z.U., Innes A.M. et al., 2009. American Journal of Human Genetics, 84 (6) pp. 760-770.
[DOI][WoS][Pmid][serval:BIB_5E5E949BD2E0]
 
Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation.
Sévin M., Kutalik Z., Bergman S., Vercelletto M., Renou P., Lamy E., Vingerhoets F.J., Di Virgilio G., Boisseau P., Bezieau S. et al., 2009. Journal of Medical Genetics, 46 (12) pp. 818-824.
[DOI][WoS][Pmid][serval:BIB_220688782453]
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.
[URN][DOI][WoS][Pmid][serval:BIB_E82D3F45825B]
 
Transcription factor CTF1 acts as a chromatin domain boundary that shields human telomeric genes from silencing.
Esnault G., Majocchi S., Martinet D., Besuchet-Schmutz N., Beckmann J.S., Mermod N., 2009. Molecular and Cellular Biology, 29 (9) pp. 2409-2418. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8EBBCF62537B]
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.
[URN][DOI][WoS][Pmid][serval:BIB_2AFD50467B1C]
2008
 
A modular approach for integrative analysis of large-scale gene-expression and drug-response data
Kutalik Z., Beckmann J. S., Bergmann S., 2008. Nature Biotechnology, 26 (5) pp. 531-539. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2313B80EF6CC]
A new, automated, four-colour interphase FISH approach for the simultaneous detection of specific aneuploidies of diagnosis and prognosis significance in high hyperdiploid ALL
Talamo Blandin A., Muehlematter D., Bougeon S., Gogniat C., Porter S., Beyer V., Parlier V., Beckmann J., Van Melle G., Jotterand M., 2008. pp. ODE-26, 180 dans Regenerative medicine, CHUV Research Day, January 17, 2008, Université de Lausanne, Faculté de biologie et de médecine.
[URN][serval:BIB_1410E84B49B9]
 
A new, automated, four-colour interphase FISH approach for the simultaneous detection of specific aneuploidies of diagnostic and prognostic significance in high hyperdiploid ALL
Talamo Blandin Anna, Muehlematter Dominique, Bougeon Sandrine, Gogniat Céline, Porter Sarah, Beyer Valérie, Parlier Valérie, Beckmann Jacques S., Van Melle Guy, Jotterand Martine, 2008. pp. 62S dans 76e Assemblée annuelle de la Société suisse de médecine interne (SGIM/SSMI), Swiss Medical Forum = Forum Médical Suisse.
[serval:BIB_5934D4FF8C20]
Association of ABCB1 genetic variants with renal function in Africans and in Caucasians.
Bochud M., Eap C.B., Maillard M., Johnson T., Vollenweider P., Bovet P., Elston R.C., Bergmann S., Beckmann J.S., Waterworth D.M. et al., 2008. BMC Medical Genomics, 1 (21) pp. 1-11. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_D784077998C6]
 
Automated four-color interphase fluorescence in situ hybridization approach for the simultaneous detection of specific aneuploidies of diagnostic and prognostic significance in high hyperdiploid acute lymphoblastic leukemia.
Blandin A.T., Mühlematter D., Bougeon S., Gogniat C., Porter S., Beyer V., Parlier V., Beckmann J.S., van Melle G., Jotterand M., 2008. Cancer Genetics and Cytogenetics, 186 (2) pp. 69-77. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_460F0BBC6FF6]
 
Calcium phosphate transfection generates mammalian recombinant cell lines with higher specific productivity than polyfection.
Chenuet S., Martinet D., Besuchet-Schmutz N., Wicht M., Jaccard N., Bon A.C., Derouazi M., Hacker D.L., Beckmann J.S., Wurm F.M., 2008. Biotechnology and Bioengineering, 101 (5) pp. 937-45. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C3C9C19B9A5F]
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.
[URN][DOI][WoS][Pmid][serval:BIB_C69F7A7ED6E5]
 
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.
[DOI][WoS][Pmid][serval:BIB_5A57B966BF00]
Common variants near MC4R are associated with fat mass, weight and risk of obesity.
Loos R.J., Lindgren C.M., Li S., Wheeler E., Zhao J.H., Prokopenko I., Inouye M., Freathy R.M., Attwood A.P., Beckmann J.S. et al., 2008. Nature Genetics, 40 (6) pp. 768-775. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C6AB1518E478]
 
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.
[DOI][WoS][Pmid][serval:BIB_A2E84AD187F8]
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.
[URN][DOI][WoS][Pmid][serval:BIB_29A149E61622]
Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin
Kazadi K., Loeuillet C., Deutsch S., Ciuffi A., Muñoz M., Beckmann J.S., Moradpour D., Antonarakis S.E., Telenti A., 2008. Nucleic Acids Research, 36 (21) pp. 6918-25. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_FC312387223F]
In vitro whole-genome analysis identifies a susceptibility locus for HIV-1.
Loeuillet C., Deutsch S., Ciuffi A., Robyr D., Taffé P., Muñoz M., Beckmann J.S., Antonarakis S.E., Telenti A., 2008. PLoS Biology, 6 (2) pp. e32. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_9DB3D3F376D3]
 
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.
Rio Frio T., Wade N.M., Ransijn A., Berson E.L., Beckmann J.S., Rivolta C., 2008. Journal of Clinical Investigation, 118 (4) pp. 1519-1531. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_28E4A9D5B592]
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.
[URN][DOI][WoS][Pmid][serval:BIB_380D9F5704BD]
 
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients
Martinet D., Filges I., Besuchet Schmutz N., Morris M.A., Gaide A.C., Dahoun S., Bottani A., Addor M.C., Antonarakis S.E., Beckmann J.S. et al., 2008. American Journal of Medical Genetics: Part A, 146A (16) pp. 2094-2102. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E4EF4792E0A8]
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.
Fukada T., Civic N., Furuichi T., Shimoda S., Mishima K., Higashiyama H., Idaira Y., Asada Y., Kitamura H., Yamasaki S. et al., 2008. PLoS ONE, 3 (11) pp. e3642. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_CAB4765ADCFE]
Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.
Rio Frio T., Civic N., Ransijn A., Beckmann J.S., Rivolta C., 2008. Human Molecular Genetics, 17 (20) pp. 3154-3165. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_48769E580F23]
2007
 
Promoter polymorphisms and allelic imbalance in ABCB1 expression.
Loeuillet C., Weale M., Deutsch S., Rotger M., Soranzo N., Wyniger J., Lettre G., Dupré Y., Thuillard D., Beckmann J.S. et al., 2007/11. Pharmacogenetics and Genomics, 17 (11) pp. 951-959. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_A8AACEE8CD42]
 
Genome-wide prediction of matrix attachment regions that increase gene expression in mammalian cells.
Girod P.A., Nguyen D.Q., Calabrese D., Puttini S., Grandjean M., Martinet D., Regamey A., Saugy D., Beckmann J.S., Bucher P. et al., 2007/09. Nature Methods, 4 (9) pp. 747-753.
[DOI][WoS][Pmid][serval:BIB_FBEEC01204C1]
 
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability.
Beckmann J.S., Estivill X., Antonarakis S.E., 2007/08. Nature Reviews. Genetics, 8 (8) pp. 639-646. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_B16EC46297CA]
 
Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers
Grossman I., Avidan N., Singer C., Goldstaub D., Hayardeny L., Eyal E., Ben-Asher E., Paperna T., Pe'er I., Lancet D. et al., 2007/08. Pharmacogenetics and Genomics, 17 (8) pp. 657-66.
[DOI][WoS][Pmid][serval:BIB_E4DC65D8539C]
 
SREBP-1c expression in Schwann cells is affected by diabetes and nutritional status
de Preux A. S., Goosen K., Zhang W., Sima A. A., Shimano H., Ouwens D. M., Diamant M., Hillebrands J. L., Rozing J., Lemke G. et al., 2007/08. Molecular and Cellular Neurosciences, 35 (4) pp. 525-34.
[DOI][WoS][Pmid][serval:BIB_BC5FF9C9E648]
The c-Jun N-terminal kinase JNK participates in cytokine- and isolation stress-induced rat pancreatic islet apoptosis
Abdelli S., Abderrahmani A., Hering B. J., Beckmann J. S., Bonny C., 2007/08. Diabetologia, 50 (8) pp. 1660-9.
[URN][DOI][WoS][Pmid][serval:BIB_63B6FB252C69]
 
Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A)
Kramerova I., Beckmann J. S., Spencer M. J., 2007/02. Biochimica et Biophysica Acta-Molecular Basis of Disease, 1772 (2) pp. 128-44. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6D76F816B0A0]
 
Blocking Apoptotic Intracellular Signaling Cascades with Cell-Permeable Peptides
Zine A., Uziel A., Beckmann J., Bonny C., 2007. Current signal transduction therapy, 2 (2) pp. 175-179.
[DOI][WoS][serval:BIB_08846E295E69]
 
Cell-permeable peptides induce dose- and length-dependent cytotoxic effects.
Cardozo A.K., Buchillier V., Mathieu M., Chen J., Ortis F., Ladrière L., Allaman-Pillet N., Poirot O., Kellenberger S., Beckmann J.S. et al., 2007. Biochimica et Biophysica Acta-Bioenergetics, 1768 (9) pp. 2222-2234. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_ECF3905AB63E]
 
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.
[DOI][WoS][Pmid][serval:BIB_7E06BA0A2D35]
2006
 
Homogeneous and nonradioactive high-throughput screening platform for the characterization of kinase inhibitors in cell lysates
Guenat S., Rouleau N., Bielmann C., Bedard J., Maurer F., Allaman-Pillet N., Nicod P., Bielefeld-Sevigny M., Beckmann J. S., Bonny C. et al., 2006/12. Journal of Biomolecular Screening, 11 (8) pp. 1015-26. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_95855612ABCB]
 
Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice
Cohen N., Kudryashova E., Kramerova I., Anderson L. V., Beckmann J. S., Bushby K., Spencer M. J., 2006/11. Proteomics, 6 (22) pp. 6075-84.
[DOI][WoS][Pmid][serval:BIB_7ECBF301CF45]
 
The association of DNA sequence variation at the MAOA genetic locus with quantitative behavioural traits in normal males
Rosenberg S., Templeton A. R., Feigin P. D., Lancet D., Beckmann J. S., Selig S., Hamer D. H., Skorecki K., 2006/11. Human Genetics, 120 (4) pp. 447-59.
[DOI][WoS][Pmid][serval:BIB_8F9879B2AD0E]
 
AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia
Amann-Zalcenstein D., Avidan N., Kanyas K., Ebstein R. P., Kohn Y., Hamdan A., Ben-Asher E., Karni O., Mujaheed M., Segman R. H. et al., 2006/10. European Journal of Human Genetics, 14 (10) pp. 1111-9.
[DOI][WoS][Pmid][serval:BIB_5FF3C6015C5D]
 
Erythrocyte differentiation factor, gene encoding same, and methods of use thereof
Avidan N., Ben-Asher E., Olender T., Lancet D., Beckmann J. S., Tamary H., Dgany O., 2006/10..
[serval:BIB_D8AF9C624FE9]
 
Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I
Ahmed M. R., Chehal A., Zahed L., Taher A., Haidar J., Shamseddine A., O'Hea A. M., Bienz N., Dgany O., Avidan N. et al., 2006/06. Blood, 107 (12) pp. 4968-9.
[DOI][WoS][Pmid][serval:BIB_694CFD66D334]
 
ATM haplotypes and breast cancer risk in Jewish high-risk women
Koren M., Kimmel G., Ben-Asher E., Gal I., Papa M. Z., Beckmann J. S., Lancet D., Shamir R., Friedman E., 2006/05. British Journal of Cancer, 94 (10) pp. 1537-43.
[DOI][WoS][Pmid][serval:BIB_FE15C78E85AB]
 
Confirmation of the origin of NISCH syndrome
Feldmeyer L., Huber M., Fellmann F., Beckmann J. S., Frenk E., Hohl D., 2006/05. Human Mutation, 27 (5) pp. 408-10.
[DOI][WoS][Pmid][serval:BIB_E8C7C2F60D40]
 
Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM)
Garvey S. M., Senderek J., Beckmann J. S., Seboun E., Jackson C. E., Hauser M. A., 2006/05. Annals of Human Genetics, 70 (Pt 3) pp. 414-6.
[DOI][WoS][Pmid][serval:BIB_A5D48B9A5F92]
 
Mendelian disorders deserve more attention
Antonarakis S. E., Beckmann J. S., 2006/04. Nature Reviews. Genetics, 7 (4) pp. 277-82.
[DOI][WoS][Pmid][serval:BIB_802728564A14]
 
The trace amine receptor 4 gene is not associated with schizophrenia in a sample linked to chromosome 6q23
Amann D., Avidan N., Kanyas K., Kohn Y., Hamdan A., Ben-Asher E., Macciardi F., Beckmann J. S., Lancet D., Lerer B., 2006/02. Molecular Psychiatry, 11 (2) pp. 119-21.
[DOI][WoS][Pmid][serval:BIB_6CFD31092B67]
 
A unique set of SH3-SH3 interactions controls IB1 homodimerization.
Kristensen O., Guenat S., Dar I., Allaman-Pillet N., Abderrahmani A., Ferdaoussi M., Roduit R., Maurer F., Beckmann J.S., Kastrup J.S. et al., 2006. EMBO Journal, 25 (4) pp. 785-797. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8020128E6107]
Fast generation of high producer cho cell lines by an iterative transfection process
Girod P.A., Grandjean M., Calabrese D., Martinet D., Beckmann J., Mermod N., 2006. pp. S41 dans 4th Recombinant Protein Production Meeting, Microbial Cell Factories. Peer-reviewed.
[URN][DOI][serval:BIB_B2EC90518D2B]
 
Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity.
Martinet D., Vial Y., Thonney F., Beckmann J.S., Meagher-Villemure K., Unger S., 2006. American Journal of Medical Genetics. Part A, 140 (7) pp. 769-774. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7E905F14CAE4]
 
Genetic characterization of CHO production host DG44 and derivative recombinant cell lines
Derouazi M., Martinet D., Besuchet Schmutz N., Flaction R., Wicht M., Bertschinger M., Hacker D. L., Beckmann J. S., Wurm F. M., 2006. Biochemical and Biophysical Research Communications, 340 (4) pp. 1069-77. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_591A760B0B33]
 
MARKERS ASSOCIATED WITH THE THERAPEUTIC EFFICACY OF GLATIRAMER ACETATE
Lancet D., Beckmann J., Avidan N., Ben-Asher E., Goldstaub D., Hayardeny L., Grossman I., Miller A., Singer C., 2006..
[serval:BIB_2FFD3232A97D]
 
When to refer for neurogenetic assessment
Rieubland C., Jacquemont S., Addor M.C., Cina V., Beckmann J., Fellmann F., 2006. Schweizer Archiv für Neurologie und Psychiatrie = Archives Suisses de Neurologie et de Psychiatrie = Archivio Svizzero Di Neurologia E Psichiatria, 157 (8) pp. 346-354.
[serval:BIB_16657F0319B4]
2005
 
Louise Anderson (1953-2005) - Obituary
Beckmann J. S., Kaplan J. C., 2005/11. Neuromuscular Disorders, 15 (11) pp. 820-820. Peer-reviewed.
[WoS][serval:BIB_9A734A3EBB34]
FoldIndex: a simple tool to predict whether a given protein sequence is intrinsically unfolded
Prilusky J., Felder C. E., Zeev-Ben-Mordehai T., Rydberg E. H., Man O., Beckmann J. S., Silman I., Sussman J. L., 2005/08. Bioinformatics, 21 (16) pp. 3435-8.
[URN][DOI][WoS][Pmid][serval:BIB_072223A553B5]
 
Typing without calling the allele: a strategy for inferring SNP haplotypes
Barzuza T., Beckmann J. S., Shamir R., Pe'er I., 2005/08. European Journal of Human Genetics, 13 (8) pp. 898-901.
[DOI][WoS][Pmid][serval:BIB_9F7C1B587189]
 
Fine mapping of a schizophrenia susceptibility locus at chromosome 6q23: increased evidence for linkage and reduced linkage interval
Levi A., Kohn Y., Kanyas K., Amann D., Pae C. U., Hamdan A., Segman R. H., Avidan N., Karni O., Korner M. et al., 2005/06. European Journal of Human Genetics, 13 (6) pp. 763-71.
[DOI][WoS][Pmid][serval:BIB_422FCB8DEDDB]
 
Analysis of genetic polymorphisms in acetylcholinesterase as reflected in different populations.
Hasin Y., Avidan N., Bercovich D., Korczyn A.D., Silman I., Beckmann J.S., Sussman J.L., 2005/04. Current Alzheimer Research, 2 (2) pp. 207-218. Peer-reviewed.
[Pmid][serval:BIB_88392AE9517F]
Trick or treat: the effect of placebo on the power of pharmacogenetic association studies
Singer C., Grossman I., Avidan N., Beckmann J. S., Pe'er I., 2005/03. Human Genomics, 2 (1) pp. 28-38.
[URN][Pmid][serval:BIB_13F5863B1F5A]
 
Association Down syndrome-retinoblastoma: a new observation.
Satgè D., Schorderet D.F., Balmer A., Beck-Popovic M., Addor M.C., Beckmann J.S., Munier F.L., 2005. Ophthalmic Genetics, 26 (3) pp. 151-152. Peer-reviewed.
[DOI][Pmid][serval:BIB_32E6AF1C8EA9]
 
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
Nakabayashi K., Amann D., Ren Y., Saarialho-Kere U., Avidan N., Gentles S., MacDonald J.R., Puffenberger E.G., Christiano A.M., Martinez-Mir A. et al., 2005. American journal of human genetics, 76 (3) pp. 510-6. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_09C08E22EE13]
 
LGMD gene coding for a calcium dependent protease
Beckmann J., Richard I., 2005..
[serval:BIB_AC62129C5FD9]
 
On ubiquitin ligases and cancer.
Beckmann J.S., Maurer F., Delorenzi M., Falquet L., 2005. Human mutation, 25 (6) pp. 507-12.
[DOI][WoS][Pmid][serval:BIB_2DFC14F39A8F]
 
Use of a combined ex vivo/in vivo population approach for screening of human genes involved in the human immunodeficiency virus type 1 life cycle for variants influencing disease progression.
Bleiber G., May M., Martinez R., Meylan P., Ott J., Beckmann J.S., Telenti A., 2005. Journal of virology, 79 (20) pp. 12674-80. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_79F3606839DF]
2004
 
A paradigm for single nucleotide polymorphism analysis: the case of the acetylcholinesterase gene
Hasin Y., Avidan N., Bercovich D., Korczyn A., Silman I., Beckmann J.S., Sussman J.L., 2004/11. Human Mutation, 24 (5) pp. 408-416.
[DOI][WoS][Pmid][serval:BIB_7623D3CAD192]
 
Intracellular stress signaling pathways activated during human islet preparation and following acute cytokine exposure
Abdelli S., Ansite J., Roduit R., Borsello T., Matsumoto I., Sawada T., Allaman-Pillet N., Henry H., Beckmann J. S., Hering B. J. et al., 2004/11. Diabetes, 53 (11) pp. 2815-23. Peer-reviewed.
[WoS][Pmid][serval:BIB_A39BC6421470]
 
Circadian regulation of islet genes involved in insulin production and secretion
Allaman-Pillet N., Roduit R., Oberson A., Abdelli S., Ruiz J., Beckmann J. S., Schorderet D. F., Bonny C., 2004/10. Molecular and Cellular Endocrinology, 226 (1-2) pp. 59-66. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0132435CECDD]
 
Genomic profiling of interpopulation diversity guides prioritization of candidate-genes for autoimmunity
Grossman I., Avidan N., Singer C., Paperna T., Lancet D., Beckmann J. S., Miller A., 2004/09. Genes Immun, 5 (6) pp. 493-504.
[DOI][WoS][Pmid][serval:BIB_E5D3126449A6]
 
Ubiquitin ligases as cancer genes
Beckmann J.S., Maurer F., Delorenzi M., Falquet L., 2004/08. Nature Reviews Cancer, 4 pp. Online Correspondence.
[DOI][serval:BIB_A52378921B36]
 
Recovering frequencies of known haplotype blocks from single-nucleotide polymorphism allele frequencies
Pe'er I., Beckmann J. S., 2004/04. Genetics, 166 (4) pp. 2001-6.
[DOI][WoS][Pmid][serval:BIB_AF5319E65B0B]
 
Computational problems in perfect phylogeny haplotyping: Xor-genotypes and tag SNPs
Barzuza T., Beckmann JS, Shamir R., Pe'er I., 2004., 15th Annual Symposium on Combinatorial Pattern Matching pp. 14-31 dans Proceedings of CPM, Lecture Notes in Computer Science.
[WoS][serval:BIB_B765720E55B4]
 
On the applicability of a haplotype map to un-assayed populations
Pe'er I., Beckmann J. S., 2004/01. Human Genetics, 114 (2) pp. 214-7.
[DOI][WoS][Pmid][serval:BIB_588462467D60]
 
Proteomic signatures: amino acid and oligopeptide compositions differentiate among phyla
Pe'er I., Felder C. E., Man O., Silman I., Sussman J. L., Beckmann J. S., 2004/01. Proteins, 54 (1) pp. 20-40.
[DOI][WoS][Pmid][serval:BIB_42E1F2EBE25E]
2003
 
Calcium- and proteasome-dependent degradation of the JNK scaffold protein islet-brain 1.
Allaman-Pillet N., Størling J., Oberson A., Roduit R., Negri S., Sauser C., Nicod P., Beckmann J.S., Schorderet D.F., Mandrup-Poulsen T. et al., 2003/12. Journal of Biological Chemistry, 278 (49) pp. 48720-48726. Peer-reviewed.
[DOI][Pmid][serval:BIB_68939E882CF2]
 
Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans
Guyon J. R., Kudryashova E., Potts A., Dalkilic I., Brosius M. A., Thompson T. G., Beckmann J. S., Kunkel L. M., Spencer M. J., 2003/10. Muscle and Nerve, 28 (4) pp. 472-83.
[DOI][WoS][Pmid][serval:BIB_E704109FA566]
 
CATSPER2, a human autosomal nonsyndromic male infertility gene
Avidan N., Tamary H., Dgany O., Cattan D., Pariente A., Thulliez M., Borot N., Moati L., Barthelme A., Shalmon L. et al., 2003/07. European Journal of Human Genetics, 11 (7) pp. 497-502.
[DOI][WoS][Pmid][serval:BIB_A195DD4E8F0B]
 
Clarin polypeptides, polynucleotides encoding same and uses thereof in diagnosis and treatment of Usher's syndrome
Lancet D., Adato A., Avidan N., Belenkiy O., Olender Z., Ben-Asher E., Pietrokovski S., Beckmann J., 2003..
[serval:BIB_9FA24E802180]
 
HLA and HIV: modeling adaptation to moving targets.
Telenti A., Beckmann J.S., Mallal S., 2003. The pharmacogenomics journal, 3 (5) pp. 254-256. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7C5D453F3147]
 
Resolution of haplotypes and haplotype frequencies from SNP genotypes of pooled samples
Pe'er I., Beckmann J. S., 2003. Proceedings of the seventh annual international conference on Computational molecular biology pp. 237-246.
[serval:BIB_B8F0860F76D6]
 
The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002
Bushby K. M., Beckmann J. S., 2003/01. Neuromuscular Disorders, 13 (1) pp. 80-90.
[Pmid][serval:BIB_A8851EC677EA]
2002
 
A highly significant association between a COMT haplotype and schizophrenia
Shifman S., Bronstein M., Sternfeld M., Pisante-Shalom A., Lev-Lehman E., Weizman A., Reznik I., Spivak B., Grisaru N., Karp L. et al., 2002/12. American Journal of Human Genetics, 71 (6) pp. 1296-302.
[DOI][WoS][Pmid][serval:BIB_529C2A789D1A]
 
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1
Dgany O., Avidan N., Delaunay J., Krasnov T., Shalmon L., Shalev H., Eidelitz-Markus T., Kapelushnik J., Cattan D., Pariente A. et al., 2002/12. American Journal of Human Genetics, 71 (6) pp. 1467-74.
[DOI][WoS][Pmid][serval:BIB_32007FA54964]
 
Pharmacogenetic Development of Personalized Medicine: Multiple Sclerosis Treatment as a Model
Kirstein-Grossman I., Beckmann J. S., Lancet D., Miller A., 2002/11. Drug News Perspect, 15 (9) pp. 558-567.
[WoS][Pmid][serval:BIB_1F0C42969BBF]
 
Molecular adaptations of neuromuscular disease-associated proteins in response to eccentric exercise in human skeletal muscle.
Féasson L., Stockholm D., Freyssenet D., Richard I., Duguez S., Beckmann J.S., Denis C., 2002/08. Journal of Physiology, 543 (Pt 1) pp. 297-306. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3441334BFC73]
 
Sequential expression of genes involved in muscular dystrophies during human development
Durand M., Suel L., Barbet J. P., Beckmann J. S., Fougerousse F., 2002/06. Morphologie, 86 (273) pp. 9-12.
[Pmid][serval:BIB_C0B121E89E72]
 
Stable expression of calpain 3 from a muscle transgene in vivo: immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturation
Spencer M. J., Guyon J. R., Sorimachi H., Potts A., Richard I., Herasse M., Chamberlain J., Dalkilic I., Kunkel L. M., Beckmann J. S., 2002/06. Proceedings of the National Academy of Sciences of the United States of America, 99 (13) pp. 8874-9.
[DOI][WoS][Pmid][serval:BIB_EDC43842707C]
 
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
Adato A., Vreugde S., Joensuu T., Avidan N., Hamalainen R., Belenkiy O., Olender T., Bonne-Tamir B., Ben-Asher E., Espinos C. et al., 2002/06. European Journal of Human Genetics, 10 (6) pp. 339-50.
[DOI][WoS][Pmid][serval:BIB_3DE6AB29D909]
 
Six and Eya expression during human somitogenesis and MyoD gene family activation
Fougerousse F., Durand M., Lopez S., Suel L., Demignon J., Thornton C., Ozaki H., Kawakami K., Barbet P., Beckmann J. S. et al., 2002. Journal of Muscle Research and Cell Motility, 23 (3) pp. 255-64.
[DOI][WoS][Pmid][serval:BIB_C16611169B69]
2001
 
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
Eisenberg I., Avidan N., Potikha T., Hochner H., Chen M., Olender T., Barash M., Shemesh M., Sadeh M., Grabov-Nardini G. et al., 2001/09. Nature Genetics, 29 (1) pp. 83-7.
[DOI][WoS][Pmid][serval:BIB_2CD424646C6C]
 
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy
Aoki M., Liu J., Richard I., Bashir R., Britton S., Keers S. M., Oeltjen J., Brown H. E., Marchand S., Bourg N. et al., 2001/07. Neurology, 57 (2) pp. 271-8.
[WoS][Pmid][serval:BIB_976C59DDC407]
 
Calpain 3 mRNA expression in mice after denervation and during muscle regeneration.
Stockholm D., Herasse M., Marchand S., Praud C., Roudaut C., Richard I., Sebille A., Beckmann J.S., 2001/06. American Journal of Physiology. Cell Physiology, 280 (6) pp. C1561-1569. Peer-reviewed.
[WoS][Pmid][serval:BIB_B9E9D901F514]
 
Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain
Jia Z., Petrounevitch V., Wong A., Moldoveanu T., Davies P. L., Elce J. S., Beckmann J. S., 2001/06. Biophysical Journal, 80 (6) pp. 2590-6.
[DOI][WoS][Pmid][serval:BIB_09BD24893CEF]
 
Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle
Baghdiguian S., Richard I., Martin M., Coopman P., Beckmann J. S., Mangeat P., Lefranc G., 2001/06. Journal of Molecular Medicine, 79 (5-6) pp. 254-61.
[DOI][WoS][Pmid][serval:BIB_07EF9626C924]
 
Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A
Mologni L., Salmikangas P., Fougerousse F., Beckmann J. S., Carpen O., 2001/05. Mechanisms of Development, 103 (1-2) pp. 121-5.
[DOI][WoS][Pmid][serval:BIB_81A468FC0910]
 
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene
Haravuori H., Vihola A., Straub V., Auranen M., Richard I., Marchand S., Voit T., Labeit S., Somer H., Peltonen L. et al., 2001/04. Neurology, 56 (7) pp. 869-77.
[WoS][Pmid][serval:BIB_731FBFC2010E]
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