Works matching AU Krawczak, Michael

Results: 154

Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1137, doi. 10.1002/humu.21547

By:

Wolf, Andreas;
Caliebe, Amke;
Thomas, Nick S.T.;
Ball, Edward V.;
Mort, Matthew;
Stenson, Peter D.;
Krawczak, Michael;
Cooper, David N.

Publication type:

Article

Statistical inference of allelic imbalance from transcriptome data.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. 98, doi. 10.1002/humu.21396

By:

Nothnagel, Michael;
Wolf, Andreas;
Herrmann, Alexander;
Szafranski, Karol;
Vater, Inga;
Brosch, Mario;
Huse, Klaus;
Siebert, Reiner;
Platzer, Matthias;
Hampe, Jochen;
Krawczak, Michael

Publication type:

Article

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.

Published in:

Human Mutation, 2010, v. 31, n. 12, p. 1286, doi. 10.1002/humu.21389

By:

Zhang, Guojie;
Pei, Zhang;
Krawczak, Michael;
Ball, Edward V.;
Mort, Matthew;
Kehrer-Sawatzki, Hildegard;
Cooper, David N.

Publication type:

Article

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. 631, doi. 10.1002/humu.21260

By:

Cooper, David N.;
Chen, Jian-Min;
Ball, Edward V.;
Howells, Katy;
Mort, Matthew;
Phillips, Andrew D.;
Chuzhanova, Nadia;
Krawczak, Michael;
Kehrer-Sawatzki, Hildegard;
Stenson, Peter D.

Publication type:

Article

Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. 1048, doi. 10.1002/humu.20957

By:

Fritsche, Lars G.;
Freitag-Wolf, Sandra;
Bettecken, Thomas;
Meitinger, Thomas;
Keilhauer, Claudia N.;
Krawczak, Michael;
Weber, Bernhard H.F.

Publication type:

Article

Systematic evaluation of the effect of common SNPs on pre-mRNA splicing.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 625, doi. 10.1002/humu.20906

By:

ElSharawy, Abdou;
Hundrieser, Bernd;
Brosch, Mario;
Wittig, Michael;
Huse, Klaus;
Platzer, Matthias;
Becker, Albert;
Simon, Matthias;
Rosenstiel, Philip;
Schreiber, Stefan;
Krawczak, Michael;
Hampe, Jochen

Publication type:

Article

A gene conversion hotspot in the human growth hormone ( GH1) gene promoter.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. 239, doi. 10.1002/humu.20850

By:

Wolf, Andreas;
Millar, David S.;
Caliebe, Amke;
Horan, Martin;
Newsway, Vicky;
Kumpf, Dorothea;
Steinmann, Katharina;
Chee, Ik-Seung;
Lee, Young-Ho;
Mutirangura, Apiwat;
Pepe, Guglielmina;
Rickards, Olga;
Schmidtke, Jörg;
Schempp, Werner;
Chuzhanova, Nadia;
Kehrer-Sawatzki, Hildegard;
Krawczak, Michael;
Cooper, David N.

Publication type:

Article

Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

Published in:

Human Mutation, 2007, v. 28, n. 3, p. 255, doi. 10.1002/humu.20430

By:

Vyletal, Petr;
Sokolová, Jitka;
Cooper, David N.;
Kraus, Jan P.;
Krawczak, Michael;
Pepe, Guglielmina;
Rickards, Olga;
Koch, Hans G.;
Linnebank, Michael;
Kluijtmans, Leo A. J.;
Blom, Henk J.;
Boers, Godfried H. J.;
Gaustadnes, Mette;
Skovby, Flemming;
Wilcken, Bridget;
Wilcken, David E. L.;
Andria, Generoso;
Sebastio, Gianfranco;
Naughten, Eileen R.;
Yap, Sufin

Publication type:

Article

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 150, doi. 10.1002/humu.20400

By:

Krawczak, Michael;
Thomas, Nick S.T.;
Hundrieser, Bernd;
Mort, Matthew;
Wittig, Michael;
Hampe, Jochen;
Cooper, David N.

Publication type:

Article

GENOMIZER: an integrated analysis system for genome-wide association data.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 583, doi. 10.1002/humu.20306

By:

Franke, Andre;
Wollstein, Andreas;
Teuber, Markus;
Wittig, Michael;
Lu, Tim;
Hoffmann, Katrin;
Nürnberg, Peter;
Krawczak, Michael;
Schreiber, Stefan;
Hampe, Jochen

Publication type:

Article

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 205, doi. 10.1002/humu.20212

By:

Ball, Edward V.;
Stenson, Peter D.;
Abeysinghe, Shaun S.;
Krawczak, Michael;
Cooper, David N.;
Chuzhanova, Nadia A.

Publication type:

Article

Gross rearrangement breakpoint database (GRaBD) (Communicated by Jamie Cuticchia).

Published in:

Human Mutation, 2004, v. 23, n. 3, p. 219, doi. 10.1002/humu.20006

By:

Shaun S. Abeysinghe;
Peter D. Stenson;
Michael Krawczak;
David N. Cooper

Publication type:

Article

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination?associated motifsCommunicated by Linda Tyfield.

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 229, doi. 10.1002/humu.10254

By:

Shaun S. Abeysinghe;
Nadia Chuzhanova;
Michael Krawczak;
Edward V. Ball;
David N. Cooper

Publication type:

Article

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs (Communicated by Linda Tyfield).

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 229, doi. 10.1002/humu.10254

By:

Shaun S. Abeysinghe;
Nadia Chuzhanova;
Michael Krawczak;
Edward V. Ball;
David N. Cooper

Publication type:

Article

Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends (Communicated by Linda Tyfield).

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 245, doi. 10.1002/humu.10253

By:

Nadia Chuzhanova;
Shaun S. Abeysinghe;
Michael Krawczak;
David N. Cooper

Publication type:

Article

Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA endsCommunicated by Linda Tyfield.

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 245, doi. 10.1002/humu.10253

By:

Nadia Chuzhanova;
Shaun S. Abeysinghe;
Michael Krawczak;
David N. Cooper

Publication type:

Article

Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update(Communicated by Richard G.H. Cotton).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 577, doi. 10.1002/humu.10212

By:

Peter D. Stenson;
Edward V. Ball;
Matthew Mort;
Andrew D. Phillips;
Jacqueline A. Shiel;
Nick S.T. Thomas;
Shaun Abeysinghe;
Michael Krawczak;
David N. Cooper

Publication type:

Article

A role for overdominant selection in phenylketonuria? Evidence from molecular data (For the PKU Special Issue).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 394, doi. 10.1002/humu.10205

By:

Michael Krawczak;
Johannes Zschocke

Publication type:

Article

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature (Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 424, doi. 10.1002/humu.10168

By:

David S. Millar;
Mark D. Lewis;
Martin Horan;
Vicky Newsway;
Tammy E. Easter;
John W. Gregory;
Linda Fryklund;
Martin Norin;
Elizabeth C. Crowne;
Sally J. Davies;
Phillip Edwards;
Jeremy Kirk;
Kim Waldron;
Patricia J. Smith;
John A. Phillips;
Maurice F. Scanlon;
Michael Krawczak;
David N. Cooper;
Annie M. Procter

Publication type:

Article

Human growth hormone 1 (GH1) gene expression: Complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region (Communicated by Mark H. Paalman) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v21.html)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 408, doi. 10.1002/humu.10167

By:

Martin Horan;
David S. Millar;
Jürgen Hedderich;
Geraint Lewis;
Vicky Newsway;
Neil Mo;
Linda Fryklund;
Annie M. Procter;
Michael Krawczak;
David N. Cooper

Publication type:

Article

A role for overdominant selection in phenylketonuria? Evidence from molecular dataFor the PKU Special Issue.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 394, doi. 10.1002/humu.10205

By:

Michael Krawczak;
Johannes Zschocke

Publication type:

Article

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short statureCommunicated by Mark H. Paalman.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 424, doi. 10.1002/humu.10168

By:

David S. Millar;
Mark D. Lewis;
Martin Horan;
Vicky Newsway;
Tammy E. Easter;
John W. Gregory;
Linda Fryklund;
Martin Norin;
Elizabeth C. Crowne;
Sally J. Davies;
Phillip Edwards;
Jeremy Kirk;
Kim Waldron;
Patricia J. Smith;
John A. Phillips;
Maurice F. Scanlon;
Michael Krawczak;
David N. Cooper;
Annie M. Procter

Publication type:

Article

Human growth hormone 1 (GH1) gene expression: Complex haplotype?dependent influence of polymorphic variation in the proximal promoter and locus control regionCommunicated by Mark H. PaalmanThe Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v21.html

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 408, doi. 10.1002/humu.10167

By:

Martin Horan;
David S. Millar;
Jürgen Hedderich;
Geraint Lewis;
Vicky Newsway;
Neil Mo;
Linda Fryklund;
Annie M. Procter;
Michael Krawczak;
David N. Cooper

Publication type:

Article

Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 28, doi. 10.1002/humu.10146

By:

Chuzhanova, Nadia A.;
Anassis, Emmanuel J.;
Ball, Edward V.;
Krawczak, Michael;
Cooper, David N.

Publication type:

Article

Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease.

Published in:

Human Mutation, 2002, v. 20, n. 2, p. 98, doi. 10.1002/humu.10095

By:

Terp, Bent N.;
Cooper, David N.;
Christensen, Inge T.;
Jørgensen, Flemming S.;
Bross, Peter;
Gregersen, Niels;
Krawczak, Michael

Publication type:

Article

Causality of incest: a reply to ten Kate.

Published in:

2014

By:

Krawczak, Michael;
Goebel, Jürgen

Publication type:

Letter

Psychomotor developmental delay and epilepsy in an offspring of father–daughter incest: quantification of the causality probability.

Published in:

International Journal of Legal Medicine, 2010, v. 124, n. 5, p. 449, doi. 10.1007/s00414-009-0337-8

By:

Schmidtke, Jörg;
Krawczak, Michael

Publication type:

Article

Potentials and limits of pairwise kinship analysis using autosomal short tandem repeat loci.

Published in:

International Journal of Legal Medicine, 2010, v. 124, n. 3, p. 205, doi. 10.1007/s00414-009-0413-0

By:

Nothnagel, Michael;
Schmidtke, Jörg;
Krawczak, Michael

Publication type:

Article

Human gene cloning: the storm before the lull?

Published in:

Nature, 1986, v. 322, n. 6075, p. 119, doi. 10.1038/322119a0

By:

SCHMIDTKE, JöRG;
KRAWCZAK, MICHAEL;
COOPER, DAVID N.

Publication type:

Article

How to Elucidate Consent-Free Research Use of Medical Data: A Case for "Health Data Literacy".

Published in:

JMIR Medical Informatics, 2024, v. 12, p. 1, doi. 10.2196/51350

By:

Richter, Gesine;
Krawczak, Michael

Publication type:

Article

IMPG1 gene variation in rhesus macular drusen.

Published in:

Veterinary Ophthalmology, 2007, v. 10, n. 5, p. 274, doi. 10.1111/j.1463-5224.2007.00549.x

By:

Singh, Krishna K.;
Dawson, William W.;
Krawczak, Michael;
Schmidtke, Jörg

Publication type:

Article

Recurrence of gallstones after cholecystectomy is associated with ABCG5/8 genotype.

Published in:

Journal of Gastroenterology, 2013, v. 48, n. 3, p. 391, doi. 10.1007/s00535-012-0639-3

By:

Schönfels, Witigo;
Buch, Stephan;
Wölk, Maren;
Aselmann, Heiko;
Egberts, Jan;
Schreiber, Stefan;
Krawczak, Michael;
Becker, Thomas;
Hampe, Jochen;
Schafmayer, Clemens

Publication type:

Article

Disease-causing mutations in the human genome.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 15, p. S173, doi. 10.1007/PL00014395

By:

Antonarakis, Stylianos E.;
Krawczak, Michael;
Cooper, David N.

Publication type:

Article

Population-Based Biobanking.

Published in:

Genes, 2024, v. 15, n. 1, p. 66, doi. 10.3390/genes15010066

By:

Lieb, Wolfgang;
Strathmann, Eike A.;
Röder, Christian;
Jacobs, Gunnar;
Gaede, Karoline I.;
Richter, Gesine;
Illig, Thomas;
Krawczak, Michael

Publication type:

Article

PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels.

Published in:

Genes, 2022, v. 13, n. 4, p. 684, doi. 10.3390/genes13040684

By:

Schmidtke, Jörg;
Philipp, Peter;
Rommel, Kathrin;
Glaubitz, Ralf;
Epplen, Jörg T.;
Krawczak, Michael

Publication type:

Article

Validity and Prognostic Value of a Polygenic Risk Score for Parkinson's Disease.

Published in:

Genes, 2021, v. 12, n. 12, p. 1859, doi. 10.3390/genes12121859

By:

Koch, Sebastian;
Laabs, Björn-Hergen;
Kasten, Meike;
Vollstedt, Eva-Juliane;
Becktepe, Jos;
Brüggemann, Norbert;
Franke, Andre;
Krämer, Ulrike M.;
Kuhlenbäumer, Gregor;
Lieb, Wolfgang;
Mollenhauer, Brit;
Neis, Miriam;
Trenkwalder, Claudia;
Schäffer, Eva;
Usnich, Tatiana;
Wittig, Michael;
Klein, Christine;
König, Inke R.;
Lohmann, Katja;
Krawczak, Michael

Publication type:

Article

Legal and ethical consequences of international biobanking from a national perspective: the German BMB-EUCoop project.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 5, p. 522, doi. 10.1038/ejhg.2009.214

By:

Goebel, Jürgen W.;
Pickardt, Thomas;
Bedau, Maren;
Fuchs, Michael;
Lenk, Christian;
Paster, Inga;
Spranger, Tarde M.;
Stockter, Ulrich;
Bauer, Ulrike;
Cooper, David N.;
Krawczak, Michael

Publication type:

Article

Hypotheses in genome-wide association scans.

Published in:

2008

By:

Nothnagel, Michael;
Lu, Timothy T;
Krawczak, Michael

Publication type:

Letter

A legal framework for biobanking: the German experience.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 5, p. 528, doi. 10.1038/sj.ejhg.5201810

By:

Simon, Jürgen;
Paslack, Rainer;
Robienski, Jürgen;
Cooper, David N;
Goebel, Jürgen W;
Krawczak, Michael

Publication type:

Article

Y-chromosomal STR haplotype analysis reveals surname-associated strata in the East-German population.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 577, doi. 10.1038/sj.ejhg.5201572

By:

Immel, Uta-Dorothee;
Krawczak, Michael;
Udolph, Jürgen;
Richter, Angela;
Rodig, Heike;
Kleiber, Manfred;
Klintschar, Michael

Publication type:

Article

Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 6, doi. 10.1038/sj.ejhg.5200897

By:

Croucher, Peter J.P.;
Mascheretti, Silvia;
Hampe, Jochen;
Huse, Klaus;
Frenzel, Henning;
Stoll, Monika;
Lu, Tim;
Nikolaus, Susanna;
Suk-Kyun Yang;
Krawczak, Michael;
Won Ho Kim;
Schreiber, Stefan

Publication type:

Article

Nicht-invasiver Pränataltest (NIPT): Aktuelle gesundheitspolitische Initiativen und inhaltliche Missverständnisse.

Published in:

2024

By:

Eiben, Bernd;
Glaubitz, Ralf;
Schmidtke, Jörg;
Kozlowsk, Peter;
Göhring, Gudrun;
Krawczak, Michael

Publication type:

Case Study

Corrigendum: Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis.

Published in:

2009

By:

Hofmann, Sylvia;
Franke, Andre;
Fischer, Annegret;
Jacobs, Gunnar;
Nothnagel, Michael;
Gaede, Karoline I;
Schürmann, Manfred;
Müller-Quernheim, Joachim;
Krawczak, Michael;
Rosenstiel, Philip;
Schreiber, Stefan

Publication type:

Correction Notice

Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis.

Published in:

Nature Genetics, 2008, v. 40, n. 9, p. 1103, doi. 10.1038/ng.198

By:

Hofmann, Sylvia;
Franke, Andre;
Fischer, Annegret;
Jacobs, Gunnar;
Nothnagel, Michael;
Gaede, Karoline I.;
Schürmann, Manfred;
Müller-Quernheim, Joachim;
Krawczak, Michael;
Rosenstiel, Philip;
Schreiber, Stefan

Publication type:

Article

Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis.

Published in:

Nature Genetics, 2008, v. 40, n. 6, p. 713, doi. 10.1038/ng.148

By:

Franke, Andre;
Balschun, Tobias;
Karlsen, Tom H;
Hedderich, Jürgen;
May, Sandra;
Lu, Tim;
Schuldt, Dörthe;
Nikolaus, Susanna;
Rosenstiel, Philip;
Krawczak, Michael;
Schreiber, Stefan

Publication type:

Article

A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1.

Published in:

Nature Genetics, 2007, v. 39, n. 2, p. 207, doi. 10.1038/ng1954

By:

Hampe, Jochen;
Franke, Andre;
Rosenstiel, Philip;
Till, Andreas;
Teuber, Markus;
Huse, Klaus;
Albrecht, Mario;
Mayr, Gabriele;
De La Vega, Francisco M.;
Briggs, Jason;
Günther, Simone;
Prescott, Natalie J.;
Onnie, Clive M.;
Häsler, Robert;
Sipos, Bence;
Fölsch, Ulrich R.;
Lengauer, Thomas;
Platzer, Matthias;
Mathew, Christopher G.;
Krawczak, Michael

Publication type:

Article

Sarcoidosis is associated with a truncating splice site mutation in BTNL2.

Published in:

Nature Genetics, 2005, v. 37, n. 4, p. 357, doi. 10.1038/ng1519

By:

Valentonyte, Ruta;
Hampe, Jochen;
Huse, Klaus;
Rosenstiel, Philip;
Albrecht, Mario;
Stenzel, Annette;
Nagy, Marion;
Gaede, Karoline I;
Franke, Andre;
Haesler, Robert;
Koch, Andreas;
Lengauer, Thomas;
Seegert, Dirk;
Reiling, Norbert;
Ehlers, Stefan;
Schwinger, Eberhard;
Platzer, Matthias;
Krawczak, Michael;
Müller-Quernheim, Joachim;
Schürmann, Manfred

Publication type:

Article

Predictors of gallstone composition in 1025 symptomatic gallstones from Northern Germany.

Published in:

BMC Gastroenterology, 2006, v. 6, p. 36, doi. 10.1186/1471-230X-6-36

By:

Schafmayer, Clemens;
Hartleb, Jürgen;
Tepel, Jürgen;
Albers, Stefan;
Freitag, Sandra;
Völzke, Henry;
Buch, Stephan;
Seeger, Markus;
Timm, Birgit;
Kremer, Bernd;
Fölsch, Ulrich R.;
Fändrich, Fred;
Krawczak, Michael;
Schreiber, Stefan;
Hampe, Jochen

Publication type:

Article

A novel scatterplot-based method to detect copy number variation (CNV).

Published in:

Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1166972

By:

Jia-Lu Qiao;
Levinson, Rebecca T.;
Bowang Chen;
Engelter, Stefan T.;
Erhart, Philipp;
Gaynor, Brady J.;
McArdle, Patrick F.;
Schlicht, Kristina;
Krawczak, Michael;
Stenman, Martin;
Lindgren, Arne G.;
Cole, John W.;
Grond-Ginsbach, Caspar

Publication type:

Article

Family-Based Benchmarking of Copy Number Variation Detection Software.

Published in:

PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0133465

By:

Nutsua, Marcel Elie;
Fischer, Annegret;
Nebel, Almut;
Hofmann, Sylvia;
Schreiber, Stefan;
Krawczak, Michael;
Nothnagel, Michael

Publication type:

Article