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1

Novel method to estimate the phenotypic variation explained by genome-wide association studies reveals large fraction of the missing heritability

Zoltán Kutalik, John Whittaker, Dawn Waterworth, GIANT consortium, Jacques S. Beckmann, Sven Bergmann

Journal:

Genetic Epidemiology

Year:

2011

Language:

english

File:

PDF, 267 KB

english, 2011

2

Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings

Isabelle Pénisson-Besnier, Isabelle Richard, Frédéric Dubas, Jacques S. Beckmann, Michel Fardeau

Journal:

Year:

1998

Language:

english

File:

PDF, 168 KB

english, 1998

3

Calpain 3 cleaves filamin C and regulates its ability to interact with γ- and δ-sarcoglycans

Jeffrey R. Guyon, Elena Kudryashova, Alexandra Potts, Isin Dalkilic, Melissa A. Brosius, Terri G. Thompson, Jacques S. Beckmann, Louis M. Kunkel, Melissa J. Spencer

Journal:

Year:

2003

Language:

english

File:

PDF, 311 KB

english, 2003

4

A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q

Vaxillaire, Martine, Boccio, Valérie, Philippi, Anne, Vigouroux, Corinne, Terwilliger, Joe, Passa, Philippe, Beckmann, Jacques S., Velho, Gilberto, Lathrop, G. Mark, Froguel, Philippe

Journal:

Nature Genetics

Year:

1995

File:

PDF, 453 KB

1995

5

Genome-wide prediction of matrix attachment regions that increase gene expression in mammalian cells

Girod, Pierre-Alain, Nguyen, Duc-Quang, Calabrese, David, Puttini, Stefania, Grandjean, Mélanie, Martinet, Danielle, Regamey, Alexandre, Saugy, Damien, Beckmann, Jacques S, Bucher, Philipp

Journal:

Year:

2007

Language:

english

File:

PDF, 413 KB

english, 2007

6

Clarity and claims in variation/mutation databasing

Dalgleish, Raymond, Oetting, William S, Auerbach, Arleen D, Beckmann, Jacques S, Cambon-Thomsen, Anne, Devereau, Andrew, Greenblatt, Marc S, Patrinos, George P, Taylor, Graham R, Vihinen, Mauno, Brook

Journal:

Nature Biotechnology

Year:

2011

Language:

english

File:

PDF, 155 KB

english, 2011

7

Survey of human and rat microsatellites

Beckmann, Jacques S., Weber, James L.

Journal:

Year:

1992

Language:

english

File:

PDF, 518 KB

english, 1992

8

Fetus with two identical reciprocal translocations: Description of a rare complication of consanguinity

Danielle Martinet, Yvan Vial, Francine Thonney, Jacques S. Beckmann, Kathleen Meagher-Villemure, Sheila Unger

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 199 KB

english, 2006

9

Subtelomeric 6p deletion: Clinical and array-CGH characterization in two patients

Danielle Martinet, Isabel Filges, Nathalie Besuchet Schmutz, Michael A. Morris, Anne-Claude Gaide, Sophie Dahoun, Armand Bottani, Marie-Claude Addor, Stylianos E. Antonarakis, Jacques S. Beckmann, Fré

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 227 KB

english, 2008

10

Familial occurrence of an association of multiple intestinal atresia and choanal atresia: A new syndrome?

Alessandra Ferrarini, Maria-Chiara Osterheld, Yvan Vial, Pierre A. de Viragh, Jacques Cotting, Danielle Martinet, Jacques S. Beckmann, Florence Fellmann

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 158 KB

english, 2009

11

Calcium phosphate transfection generates mammalian recombinant cell lines with higher specific productivity than polyfection

Sebastien Chenuet, Danielle Martinet, Nathalie Besuchet-Schmutz, Marianne Wicht, Nicolas Jaccard, Anne-Charlotte Bon, Madiha Derouazi, David L. Hacker, Jacques S. Beckmann, Florian M. Wurm

Journal:

Biotechnology and Bioengineering

Year:

2008

Language:

english

File:

PDF, 260 KB

english, 2008

12

A paradigm for single nucleotide polymorphism analysis: The case of the acetylcholinesterase gene

Yehudit Hasin, Nili Avidan, Dani Bercovich, Amos Korczyn, Israel Silman, Jacques S. Beckmann, Joel L. Sussman

Journal:

Year:

2004

Language:

english

File:

PDF, 514 KB

english, 2004

13

On ubiquitin ligases and cancer

Jacques S. Beckmann, Fabienne Maurer, Mauro Delorenzi, Laurent Falquet

Journal:

Year:

2005

Language:

english

File:

PDF, 125 KB

english, 2005

14

Sharing data between LSDBs and central repositories

Johan T. den Dunnen, Rolf H. Sijmons, Paal S. Andersen, Mauno Vihinen, Jacques S. Beckmann, Sandro Rossetti, C. Conover Talbot Jr, Ross C. Hardison, Sue Povey, Richard G.H. Cotton

Journal:

Year:

2009

Language:

english

File:

PDF, 115 KB

english, 2009

15

After All, Size May Matter

Jacques Beckmann

Journal:

Year:

2009

Language:

english

File:

PDF, 71 KB

english, 2009

16

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

Thomas Rio Frio, Terri L. McGee, Nicholas M. Wade, Christian Iseli, Jacques S. Beckmann, Eliot L. Berson, Carlo Rivolta

Journal:

Year:

2009

Language:

english

File:

PDF, 321 KB

english, 2009

17

Association ofABCB1genetic variants with renal function in Africans and in Caucasians

Murielle Bochud, Chin B Eap, Marc Maillard, Toby Johnson, Peter Vollenweider, Pascal Bovet, Robert C Elston, Sven Bergmann, Jacques S Beckmann, Dawn M Waterworth, Vincent Mooser, Anne Gabriel, Michel

Journal:

BMC Medical Genomics

Year:

2008

Language:

english

File:

PDF, 740 KB

english, 2008

18

Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice

Niaz Cohen, Elena Kudryashova, Irina Kramerova, Louise V. B. Anderson, Jacques S. Beckmann, Katherine Bushby, Melissa J. Spencer

Journal:

Year:

2006

Language:

english

File:

PDF, 418 KB

english, 2006

19

Proteomic signatures: Amino acid and oligopeptide compositions differentiate among phyla

Itsik Pe'er, Clifford E. Felder, Orna Man, Israel Silman, Joel L. Sussman, Jacques S. Beckmann

Journal:

Proteins: Structure, Function, and Bioinformatics

Year:

2004

Language:

english

File:

PDF, 4.87 MB

english, 2004

20

Elevated amounts of methotrexate-binding protein, different from normal dihydrofolate reductase, in a petunia MTXR-cell line

Rivka Barg, Meir Perl, Jacques S. Beckmann

Journal:

Plant Molecular Biology

Year:

1987

Language:

english

File:

PDF, 534 KB

english, 1987

21

Isolation of methotrexate-resistant cell lines inPetunia hybridaupon stepwise selection procedure

Rivka Barg, Naomi Peleg, Meir Perl, Jacques S. Beckmann

Journal:

Plant Molecular Biology

Year:

1984

Language:

english

File:

PDF, 1.09 MB

english, 1984

22

Physiology and genetics of carbamoylphosphate synthesis inEscherichia coliK12

Max Mergeay, Daniel Gigot, Jacques Beckmann, Nicolas Glansdorff, André Piérard

Journal:

Molecular Genetics and Genomics

Year:

1974

Language:

english

File:

PDF, 942 KB

english, 1974

23

DNA segments mapped by reciprocal use of microsatellite primers between mouse and rat

Yasushi Kondo, Masayuki Mori, Takashi Kuramoto, Junzo Yamada, Jacques S. Beckmann, Dominique Simon-Chazottes, Xavier Montagutelli, Jean-Louis Guénet, Tadao Serikawa

Journal:

Mammalian Genome

Year:

1993

Language:

english

File:

PDF, 616 KB

english, 1993

24

The effect of lithium on urinary MHPG in unipolar and bipolar depressed patients

Helmut Beckmann, Jacques St.-Laurent, Frederick K. Goodwin

Journal:

Psychopharmacology

Year:

1975

Language:

english

File:

PDF, 591 KB

english, 1975

25

Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IκBα/NF-κB survival pathway in skeletal muscle

Stephen Baghdiguian, Isabelle Richard, Marianne Martin, Peter Coopman, Jacques S. Beckmann, Paul Mangeat, Gérard Lefranc

Journal:

Journal of Molecular Medicine

Year:

2001

Language:

english

File:

PDF, 416 KB

english, 2001

26

The association of DNA sequence variation at the MAOA genetic locus with quantitative behavioural traits in normal males

Shai Rosenberg, Alan R. Templeton, Paul D. Feigin, Doron Lancet, Jacques S. Beckmann, Sara Selig, Dean H. Hamer, Karl Skorecki

Journal:

Year:

2006

Language:

english

File:

PDF, 396 KB

english, 2006

27

Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation inTP53

Alessandra Ferrarini, Agnes Auteri-Kaczmarek, Alessia Pica, Nemya Boesch, Karl Heinimann, Stephan C. Schäfer, Sara Vesnaver-Megalo, Viviane Cina, Jacques S. Beckmann, Christian Monnerat

Journal:

Familial Cancer

Year:

2011

Language:

english

File:

PDF, 266 KB

english, 2011

28

Myotilin is not the Causative Gene for Vocal Cord and Pharyngeal Weakness with Distal Myopathy (VCPDM)

Sean M. Garvey, Jan Senderek, Jacques S. Beckmann, Eric Seboun, Charles E. Jackson, Michael A. Hauser

Journal:

Annals of Human Genetics

Year:

2006

Language:

english

File:

PDF, 169 KB

english, 2006

29

Dimeric tRNA precursors in yeast

Schmidt, Otto, Mao, Jen-i, Ogden, Richard, Beckmann, Jacques, Sakano, Hitoshi, Abelson, John, Söll, Dieter

Journal:

Year:

1980

File:

PDF, 691 KB

1980

30

Germ-line gene therapy a misnomer?

BECKMANN, JACQUES

Journal:

Year:

1984

File:

PDF, 144 KB

1984

31

Genetic male infertility and mutation of CATSPER ion channels

Hildebrand, Michael S, Avenarius, Matthew R, Fellous, Marc, Zhang, Yuzhou, Meyer, Nicole C, Auer, Jana, Serres, Catherine, Kahrizi, Kimia, Najmabadi, Hossein, Beckmann, Jacques S

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 374 KB

english, 2010

32

Statistical power of the North Carolina Experiment III design in determining the likelihood of success of pedigree breeding programs in selfing plants

Hallerman, Eric M, Beckmann, Jacques S, Soller, Morris

Journal:

Year:

1987

Language:

english

File:

PDF, 174 KB

english, 1987

33

Oligonucleotide Polymorphisms: A New Tool for Genomic Genetics

Beckmann, Jacques S.

Journal:

Year:

1988

File:

PDF, 776 KB

1988

34

A modular approach for integrative analysis of large-scale gene-expression and drug-response data

Beckmann, Jacques S, Bergmann, Sven, Kutalik, Zoltán

Journal:

Nature Biotechnology

Year:

2008

Language:

english

File:

PDF, 1.14 MB

english, 2008

35

Common variants near MC4R are associated with fat mass, weight and risk of obesity

Loos, Ruth J F, Lindgren, Cecilia M, Li, Shengxu, Wheeler, Eleanor, Zhao, Jing Hua, Prokopenko, Inga, Inouye, Michael, Freathy, Rachel M, Attwood, Antony P, Beckmann, Jacques S

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 524 KB

english, 2008

36

Genetic determinants of diastolic and pulse pressure map to different loci in Lyon hypertensive rats

Dubay, Christopher, Vincent, Madeleine, Samani, Nilesh J., Hilbert, Pascale, Kaiser, Michael A., Beressi, Jean-Paul, Kotelevtsev, Yuri, Beckmann, Jacques S., Soubrier, Florent, Sassard, Jean

Journal:

Nature Genetics

Year:

1993

File:

PDF, 432 KB

1993

37

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

Antignac, Corinne, Arduy, Christine H., Beckmann, Jacques S., Benessy, France, Gros, Françoise, Medhioub, Monia, Hildebrandt, Friedhelm, Dufier, Jean-Louis, Kleinknecht, Claire, Broyer, Michel

Journal:

Nature Genetics

Year:

1993

File:

PDF, 366 KB

1993

38

How neutral are synonymous codon mutations?

Richard, Isabella, Beckmann, Jacques S.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 99 KB

1995

39

Cardiac myosin binding protein–C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy

Bonne, Gisèle, Carrier, Lucie, Bercovici, Josiane, Cruaud, Corinne, Richard, Pascale, Hainque, Bernard, Gautel, Mathias, Labeit, Siegfried, James, Michael, Beckmann, Jacques

Journal:

Nature Genetics

Year:

1995

File:

PDF, 522 KB

1995

40

Mendelian disorders deserve more attention

Antonarakis, Stylianos E., Beckmann, Jacques S.

Journal:

Nature Reviews Genetics

Year:

2006

Language:

english

File:

PDF, 194 KB

english, 2006

41

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

Beckmann, Jacques S., Estivill, Xavier, Antonarakis, Stylianos E.

Journal:

Nature Reviews Genetics

Year:

2007

Language:

english

File:

PDF, 346 KB

english, 2007

42

Typing without calling the allele: a strategy for inferring SNP haplotypes

Barzuza, Tamar, Beckmann, Jacques S, Shamir, Ron, Pe'er, Itsik

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 121 KB

english, 2005

43

A unique set of SH3–SH3 interactions controls IB1 homodimerization

Kristensen, Ole, Guenat, Sylvie, Dar, Imran, Allaman-Pillet, Nathalie, Abderrahmani, Amar, Ferdaoussi, Mourad, Roduit, Raphaël, Maurer, Fabienne, Beckmann, Jacques S, Kastrup, Jette S

Journal:

The EMBO Journal

Year:

2006

Language:

english

File:

PDF, 674 KB

english, 2006

44

Six and Eya expression during human somitogenesis and MyoD gene family activation

Françoise Fougerousse, Muriel Durand, Soledad Lopez, Laurence Suel, Josiane Demignon, Charles Thornton, Hidenori Ozaki, Kyoshi Kawakami, Patrick Barbet, Jacques S. Beckmann, Pascal Maire

Journal:

Journal of Muscle Research and Cell Motility

Year:

2002

Language:

english

File:

PDF, 2.04 MB

english, 2002

45

Intransigence in ‘genetic engineering’: transgenics or generics

Jacques S. Beckmann

Journal:

Trends in Biotechnology

Year:

1986

Language:

english

File:

PDF, 103 KB

english, 1986

46

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

Anna Talamo Blandin, Dominique Mühlematter, Sandrine Bougeon, Céline Gogniat, Sarah Porter, Valérie Beyer, Valérie Parlier, Jacques S. Beckmann, Guy van Melle, Martine Jotterand

Journal:

Cancer Genetics and Cytogenetics

Year:

2008

Language:

english

File:

PDF, 518 KB

english, 2008

47

Schistosoma mansoni Polo-like kinase 1: A mitotic kinase with key functions in parasite reproduction

Thavy Long, Katia Cailliau, Svenja Beckmann, Edith Browaeys, Jacques Trolet, Christoph G. Grevelding, Colette Dissous

Journal:

International Journal for Parasitology

Year:

2010

Language:

english

File:

PDF, 2.82 MB

english, 2010

48

Transcription of Supercoiled Mitochondrial DNA by Bacterial RNA Polymerase

Henri SCHMITT, Jacques S. BECKMANN, Uriel Z. LITTAUER

Journal:

Year:

1974

Language:

english

File:

PDF, 905 KB

english, 1974

49

Purification and Identification of Two Putative Autolytic Sites in Human Calpain 3 (p94) Expressed in Heterologous Systems

Christian Federici, Yuval Eshdat, Isabelle Richard, Brigitte Bertin, Jean Luc Guillaume, Maurice Hattab, Jacques S. Beckmann, A.Donny Strosberg, Luc Camoin

Journal:

Archives of Biochemistry and Biophysics

Year:

1999

Language:

english

File:

PDF, 178 KB

english, 1999

50

Structure, Genetic Localization, and Identification of the Cardiac and Skeletal Muscle Transcripts of the Human Integrin α7 Gene (ITGA7)

Nicolas Vignier, Behzad Moghadaszadeh, Françoise Gary, Jacques Beckmann, Ulrike Mayer, Pascale Guicheney

Journal:

Biochemical and Biophysical Research Communications

Year:

1999

Language:

english

File:

PDF, 197 KB

english, 1999