CAU Logo
Christian–Albrechts–Universität zu Kiel
Institut für Medizinische Informatik und Statistik
Logo
english

Publikationen von Michael Krawczak



Schafmayer C, Harrison JW, Buch S, Lange C, Reichert MC, Hofer P, Cossais F, Kupcinskas J, von Schönfels W, Schniewind B, Kruis W, Tepel J, Zobel M, Rosendahl J, Jacobi T, Walther-Berends A, Schroeder M, Vogel I, Sergeev P, Boedeker H, Hinrichsen H, Volk A, Erk JU, Burmeister G, Hendricks A, Hinz S, Wolff S, Böttner M, Wood AR, Tyrrell J, Beaumont RN, Langheinrich M, Kucharzik T, Brezina S, Huber-Schönauer U, Pietsch L, Noack LS, Brosch M, Herrmann A, Thangapandi RV, Schimming HW, Zeissig S, Palm S, Focke G, Andreasson A, Schmidt PT, Weitz J, Krawczak M, Völzke H, Leeb G, Michl P, Lieb W, Grützmann R, Franke A, Lammert F, Becker T, Kupcinskas L, Wedel T, Datz C, Gsur A, Weedon MN, Hampe J.
Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanisms.
Gut, 68 (2019), 854-865.  [abstract]

Schlicht K, Nyczka P, Caliebe A, Freitag-Wolf S, Claringbould A, Franke L, Võsa U, , Kardia SLR, Smith JA, Zhao W, Gieger C, Peters A, Prokisch H, Strauch K, , Baurecht H, Weidinger S, Rosenstiel P, Hütt MT, Knecht C, Szymczak S, Krawczak M.
The metabolic network coherence of human transcriptomes is associated with genetic variation at the cadherin 18 locus.
Hum Genet, (2019).  [abstract]

Lipinski S, Petersen BS, Barann M, Piecyk A, Tran F, Mayr G, Jentzsch M, Aden K, Stengel ST, Klostermeier UC, Sheth V, Ellinghaus D, Rausch T, Korbel JO, Nothnagel M, Krawczak M, Gilissen C, Veltman JA, Forster M, Forster P, Lee CC, Fritscher-Ravens A, Schreiber S, Franke A, Rosenstiel P.
Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2.
Cold Spring Harb Mol Case Stud, 5 (2019).  [abstract]

Pfeiffer D, Chen B, Schlicht K, Ginsbach P, Abboud S, Bersano A, Bevan S, Brandt T, Caso V, Debette S, Erhart P, Freitag-Wolf S, Giacalone G, Grau AJ, Hayani E, Jern C, Jiménez-Conde J, Kloss M, Krawczak M, Lee JM, Lemmens R, Leys D, Lichy C, Maguire JM, Martin JJ, Metso AJ, Metso TM, Mitchell BD, Pezzini A, Rosand J, Rost NS, Stenman M, Tatlisumak T, Thijs V, Touzé E, Traenka C, Werner I, Woo D, Del Zotto E, Engelter ST, Kittner SJ, Cole JW, Grond-Ginsbach C, Lyrer PA, Lindgren A, .
Genetic Imbalance Is Associated With Functional Outcome After Ischemic Stroke.
Stroke, 50 (2019), 298-304.  [abstract]

Lieb W, Jacobs G, Wolf A, Richter G, Gaede KI, Schwarz J, Arnold N, Böhm R, Buyx A, Cascorbi I, Franke A, Glinicke C, Held-Feindt J, Junker R, Kalthoff H, Kramer HH, Leypoldt F, Maass N, Maetzler W, May S, Mehdorn HM, Röcken C, Schafmayer C, Schrappe M, Schreiber S, Sebens S, Stephani U, Synowitz M, Weimer J, Zabel P, Nöthlings U, Röder C, Krawczak M.
Linking pre-existing biorepositories for medical research: the PopGen 2.0 Network.
J Community Genet, (2019).  [abstract]

Richter G, Borzikowsky C, Lieb W, Schreiber S, Krawczak M, Buyx A.
Patient views on research use of clinical data without consent: Legal, but also acceptable?.
Eur J Hum Genet, (2019).  [abstract]

Caliebe A, Krawczak M.
Match probabilities for Y-chromosomal profiles: A paradigm shift.
Forensic Sci Int Genet, 37 (2018), 200-203.  [abstract]

Caliebe A, Krawczak M, Kayser M.
Predictive values in Forensic DNA Phenotyping are not necessarily prevalence-dependent.
Forensic Sci Int Genet, 33 (2018), e7-e8. 

Aramillo Irizar P, Schäuble S, Esser D, Groth M, Frahm C, Priebe S, Baumgart M, Hartmann N, Marthandan S, Menzel U, Müller J, Schmidt S, Ast V, Caliebe A, König R, Krawczak M, Ristow M, Schuster S, Cellerino A, Diekmann S, Englert C, Hemmerich P, Sühnel J, Guthke R, Witte OW, Platzer M, Ruppin E, Kaleta C.
Transcriptomic alterations during ageing reflect the shift from cancer to degenerative diseases in the elderly.
Nat Commun, 9 (2018), 327.  [abstract]

Knecht C, Mort M, Junge O, Cooper DN, Krawczak M, Caliebe A.
IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants.
Nucleic Acids Res, 45 (2017), e13. 

Yadav P, Freitag-Wolf S, Lieb W, Dempfle A, Krawczak M.
Allowing for population stratification in case-only studies of gene-environment interaction, using genomic control.
Hum Genet, 134 (2015), 1117-25.  [abstract]

Lieb W, Jacobs B, Wolf A, Krawczak M.
Biobanking für klinische und populationsbasierte Forschungsfragen: Erfahrungen aus Kiel.
4. Nationales Biobanken-Symposium 2015 – Tagungsband, 4 (2015). 

Caliebe A, Jochens A, Willuweit S, Roewer L, Krawczak M.
No shortcut solution to the problem of Y-STR match probability calculation.
Forensic Sci Int Genet, 15 (2015), 69-75.  [abstract]

Yadav P, Freitag-Wolf S, Lieb W, Krawczak M.
The role of linkage disequilibrium in case-only studies of gene-environment interactions.
Hum Genet, 134 (2015), 89-96.  [abstract]

Siegert S, Wolf A, Cooper DN, Krawczak M, Nothnagel M.
Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense.
PLoS One, 10 (2015), e0132150.  [abstract]

Krawczak M, Goebel J.
Causality of incest: a reply to ten Kate.
Int J Legal Med, 128 (2014), 747. 

Knecht C, Krawczak M.
Molecular genetic epidemiology of human diseases: from patterns to predictions.
Hum Genet, 133 (2014), 425-30.  [abstract]

Stade B, Seelow D, Thomsen I, Krawczak M, Franke A.
GrabBlur--a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files.
BMC Genomics, 15 Suppl 4 (2014), S8.  [abstract]

Däumer C, Flachsbart F, Caliebe A, Schreiber S, Nebel A, Krawczak M.
Adjustment for smoking does not alter the FOXO3A association with longevity.
Age (Dordr), 36 (2014), 911-21.  [abstract]

Purps J, Siegert S, Willuweit S, Nagy M, Alves C, Salazar R, Angustia SM, Santos LH, Anslinger K, Bayer B, Ayub Q, Wei W, Xue Y, Tyler-Smith C, Bafalluy MB, Martínez-Jarreta B, Egyed B, Balitzki B, Tschumi S, Ballard D, Court DS, Barrantes X, Bäßler G, Wiest T, Berger B, Niederstätter H, Parson W, Davis C, Budowle B, Burri H, Borer U, Koller C, Carvalho EF, Domingues PM, Chamoun WT, Coble MD, Hill CR, Corach D, Caputo M, Davison S, Decorte R, Larmuseau MH, Ottoni C, Rickards O, Lu D, Jiang C, Dobosz T, Jonkisz A, Frank WE, Furac I, Gehrig C, Castella V, Grskovic B, Haas C, Wobst J, Hadzic G, Drobnic K, Honda K, Hou Y, Zhou D, Li Y, Hu S, Chen S, Immel UD, Lessig R, Jakovski Z, Ilievska T, Klann AE, García CC, de Knijff P, Kraaijenbrink T, Kondili A, Miniati P, Vouropoulou M, Kovacevic L, Marjanovic D, Lindner I, Mansour I, Al-Azem M, Andari AE, Marino M, Furfuro S, Locarno L, Martín P, Luque GM, Alonso A, Miranda LS, Moreira H, Mizuno N, Iwashima Y, Neto RS, Nogueira TL, Silva R, Nastainczyk-Wulf M, Edelmann J, Kohl M, Nie S, Wang X, Cheng B, Núñez C, Pancorbo MM, Olofsson JK, Morling N, Onofri V, Tagliabracci A, Pamjav H, Volgyi A, Barany G, Pawlowski R, Maciejewska A, Pelotti S, Pepinski W, Abreu-Glowacka M, Phillips C, Cárdenas J, Rey-Gonzalez D, Salas A, Brisighelli F, Capelli C, Toscanini U, Piccinini A, Piglionica M, Baldassarra SL, Ploski R, Konarzewska M, Jastrzebska E, Robino C, Sajantila A, Palo JU, Guevara E, Salvador J, Ungria MC, Rodriguez JJ, Schmidt U, Schlauderer N, Saukko P, Schneider PM, Sirker M, Shin KJ, Oh YN, Skitsa I, Ampati A, Smith TG, Calvit LS, Stenzl V, Capal T, Tillmar A, Nilsson H, Turrina S, De Leo D, Verzeletti A, Cortellini V, Wetton JH, Gwynne GM, Jobling MA, Whittle MR, Sumita DR, Wolańska-Nowak P, Yong RY, Krawczak M, Nothnagel M, Roewer L.
A global analysis of Y-chromosomal haplotype diversity for 23 STR loci.
Forensic Sci Int Genet, 12 (2014), 12-23.  [abstract]

Stickel F, Buch S, Zoller H, Hultcrantz R, Gallati S, Österreicher C, Finkenstedt A, Stadlmayr A, Aigner E, Sahinbegovic E, Sarrazin C, Schafmayer C, Braun F, Erhart W, Nothnagel M, Lerch MM, Mayerle J, Völzke H, Schaller A, Kratzer W, Boehm BO, Sipos B, Torkvist L, Stal P, Arlt A, Franke A, Becker T, Krawczak M, Zwerina J, Berg T, Hinrichsen H, Krones E, Dejaco C, Strasser M, Datz C, Hampe J.
Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.
Hum Mol Genet, 23 (2014), 3883-90.  [abstract]

Yang R, Chen B, Pfütze K, Buch S, Steinke V, Holinski-Feder E, Stöcker S, von Schönfels W, Becker T, Schackert HK, Royer-Pokora B, Kloor M, Schmiegel WH, Büttner R, Engel C, Lascorz Puertolas J, Försti A, Kunkel N, Bugert P, Schreiber S, Krawczak M, Schafmayer C, Propping P, Hampe J, Hemminki K, Burwinkel B.
Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3.
Carcinogenesis, 35 (2014), 315-23.  [abstract]

Meder B, Rühle F, Weis T, Homuth G, Keller A, Franke J, Peil B, Lorenzo Bermejo J, Frese K, Huge A, Witten A, Vogel B, Haas J, Völker U, Ernst F, Teumer A, Ehlermann P, Zugck C, Friedrichs F, Kroemer H, Dörr M, Hoffmann W, Maisch B, Pankuweit S, Ruppert V, Scheffold T, Kühl U, Schultheiss HP, Kreutz R, Ertl G, Angermann C, Charron P, Villard E, Gary F, Isnard R, Komajda M, Lutz M, Meitinger T, Sinner MF, Wichmann HE, Krawczak M, Ivandic B, Weichenhan D, Gelbrich G, El-Mokhtari NE, Schreiber S, Felix SB, Hasenfuß G, Pfeufer A, Hübner N, Kääb S, Arbustini E, Rottbauer W, Frey N, Stoll M, Katus HA.
A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy.
Eur Heart J, 35 (2014), 1069-77.  [abstract]

Andersen MM, Caliebe A, Jochens A, Willuweit S, Krawczak M.
Estimating trace-suspect match probabilities for singleton Y-STR haplotypes using coalescent theory.
Forensic Sci Int Genet, 7 (2013), 264-71.  [abstract]

Taudien S, Gäbel G, Kuss O, Groth M, Grützmann R, Huse K, Kluttig A, Wolf A, Nothnagel M, Rosenstiel P, Greiser KH, Werdan K, Krawczak M, Pilarsky C, Platzer M.
Association studies of the copy-number variable Ss-defensin cluster on 8p23.1 in adenocarcinoma and chronic pancreatitis.
BMC Res Notes, 5 (2012), 629.  [abstract]

Brosch M, von Schönfels W, Ahrens M, Nothnagel M, Krawczak M, Laudes M, Sipos B, Becker T, Schreiber S, Röcken C, Schafmayer C, Hampe J.
SFRS10-A Splicing Factor Gene Reduced in Human Obesity?.
Cell Metab, 15 (2012), 265-6. 

Nothnagel M, Szibor R, Vollrath O, Augustin C, Edelmann J, Geppert M, Alves C, Gusmão L, Vennemann M, Hou Y, Immel UD, Inturri S, Luo H, Lutz-Bonengel S, Robino C, Roewer L, Rolf B, Sanft J, Shin KJ, Sim JE, Wiegand P, Winkler C, Krawczak M, Hering S.
Collaborative genetic mapping of 12 forensic short tandem repeat (STR) loci on the human X chromosome.
Forensic Sci Int Genet, (2012).  [abstract]

Nebel A, Kleindorp R, Caliebe A, Nothnagel M, Blanché H, Junge O, Wittig M, Ellinghaus D, Flachsbart F, Wichmann HE, Meitinger T, Nikolaus S, Franke A, Krawczak M, Lathrop M, Schreiber S.
A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals.
Mech Ageing Dev, 132 (2011), 324-30.  [abstract]

Wolf A, Caliebe A, Thomas NS, Ball EV, Mort M, Stenson PD, Krawczak M, Cooper DN.
Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease.
Hum Mutat, 32 (2011), 1137–43.  [abstract]

Nothnagel M, Herrmann A, Wolf A, Schreiber S, Platzer M, Siebert R, Krawczak M, Hampe J.
Technology-specific error signatures in the 1000 Genomes Project data.
Hum Genet, (2011).  [abstract]

Jochens A, Caliebe A, Rösler U, Krawczak M.
Empirical Evaluation Reveals Best Fit of a Logistic Mutation Model for Human Y-chromosomal Microsatellites.
Genetics, 189 (2011), 1403-1411.  [abstract]

Herrmann A, Haake A, Ammerpohl O, Martin-Guerrero I, Szafranski K, Stemshorn K, Nothnagel M, Kotsopoulos SK, Richter J, Warner J, Olson J, Link DR, Schreiber S, Krawczak M, Platzer M, Nürnberg P, Siebert R, Hampe J.
Pipeline for Large-Scale Microdroplet Bisulfite PCR-Based Sequencing Allows the Tracking of Hepitype Evolution in Tumors.
PLoS One, 6 (2011), e21332.  [abstract]

Mangold E, Ludwig KU, Birnbaum S, Baluardo C, Ferrian M, Herms S, Reutter H, de Assis NA, Chawa TA, Mattheisen M, Steffens M, Barth S, Kluck N, Paul A, Becker J, Lauster C, Schmidt G, Braumann B, Scheer M, Reich RH, Hemprich A, Pötzsch S, Blaumeiser B, Moebus S, Krawczak M, Schreiber S, Meitinger T, Wichmann HE, Steegers-Theunissen RP, Kramer FJ, Cichon S, Propping P, Wienker TF, Knapp M, Rubini M, Mossey PA, Hoffmann P, Nöthen MM.
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
Nat Genet, 42 (2010), 24-6.  [abstract]

Caliebe A, Jochens A, Krawczak M, Rösler U.
A Markov chain description of the stepwise mutation model: local and global behaviour of the allele process.
J Theor Biol, 266 (2010), 336-42.  [abstract]

Buch S, Schafmayer C, Völzke H, Seeger M, Miquel JF, Sookoian SC, Egberts JH, Arlt A, Pirola CJ, Lerch MM, John U, Franke A, von Kampen O, Brosch M, Nothnagel M, Kratzer W, Boehm BO, Bröring CD, Schreiber S, Krawczak M, Hampe J.
Loci from a genome-wide analysis of bilirubin levels are associated with gallstone risk and composition.
Gastroenterology, (2010).  [abstract]

Nothnagel M, Lu TT, Kayser M, Krawczak M.
Genomic and geographic distribution of SNP-defined runs of homozygosity in Europeans.
Hum Mol Genet, 19 (2010), 2927-35.  [abstract]

Fiebig A, Krusche P, Wolf A, Krawczak M, Timm B, Nikolaus S, Frings N, Schreiber S.
Heritability of chronic venous disease.
Hum Genet, (2010).  [abstract]

Nothnagel M, Wolf A, Herrmann A, Szafranski K, Vater I, Brosch M, Huse K, Siebert R, Platzer M, Hampe J, Krawczak M.
Statistical inference of allelic imbalance from transcriptome data.
Hum Mutat, (2010).  [abstract]

Nothnagel M, Schmidtke J, Krawczak M.
Potentials and limits of pairwise kinship analysis using autosomal short tandem repeat loci.
Int J Legal Med, (2010).  [abstract]

Nelis M, Esko T, Mägi R, Zimprich F, Zimprich A, Toncheva D, Karachanak S, Piskácková T, Balascák I, Peltonen L, Jakkula E, Rehnström K, Lathrop M, Heath S, Galan P, Schreiber S, Meitinger T, Pfeufer A, Wichmann HE, Melegh B, Polgár N, Toniolo D, Gasparini P, Klovins J, Nikitina-Zake L, Kucinskas V, Kasnauskiene J, Lubinski J, Debniak T, Limborska S, Khrunin A, Estivill X, Rabionet R, Marsal S, Julià A, Antonarakis SE, Deutsch S, Borel C, Attar H, Gagnebin M, Macek M, Krawczak M, Remm M, Metspalu A.
Genetic structure of Europeans: a view from the North-East.
PLoS One, 4 (2009), e5472.  [abstract]

Goebel JW, Pickardt T, Bedau M, Fuchs M, Lenk C, Paster I, Spranger TM, Stockter U, Bauer U, Cooper DN, Krawczak M.
Legal and ethical consequences of international biobanking from a national perspective: the German BMB-EUCoop project.
Eur J Hum Genet, (2009).  [abstract]

Estrada K, Krawczak M, Schreiber S, van Duijn K, Stolk L, van Meurs JB, Liu F, Penninx BW, Smit JH, Vogelzangs N, Hottenga JJ, Willemsen G, de Geus EJ, Lorentzon M, von Eller-Eberstein H, Lips P, Schoor N, Pop V, de Keijzer J, Hofman A, Aulchenko YS, Oostra BA, Ohlsson C, Boomsma DI, Uitterlinden AG, van Duijn CM, Rivadeneira F, Kayser M.
A genome-wide association study of northwestern Europeans involves the CNP signaling pathway in the etiology of human height variation.
Hum Mol Genet, (2009).  [abstract]

ElSharawy A, Hundrieser B, Brosch M, Wittig M, Huse K, Platzer M, Becker A, Simon M, Rosenstiel P, Schreiber S, Krawczak M, Hampe J.
Systematic evaluation of the effect of common SNPs on pre-mRNA splicing.
Hum Mutat, 30 (2009), 625-32.  [abstract]

Lu TT, Lao O, Nothnagel M, Junge O, Freitag-Wolf S, Caliebe A, Balascakova M, Bertranpetit J, Bindoff LA, Comas D, Holmlund G, Kouvatsi A, Macek M, Mollet I, Nielsen F, Parson W, Palo J, Ploski R, Sajantila A, Tagliabracci A, Gether U, Werge T, Rivadeneira F, Hofman A, Uitterlinden AG, Gieger C, Wichmann HE, Ruether A, Schreiber S, Becker C, Nürnberg P, Nelson MR, Kayser M, Krawczak M.
An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population.
Eur J Hum Genet, 17 (2009), 967-75.  [abstract]

Wolf A, Millar DS, Caliebe A, Horan M, Newsway V, Kumpf D, Steinmann K, Chee IS, Lee YH, Mutirangura A, Pepe G, Rickards O, Schmidtke J, Schempp W, Chuzhanova N, Kehrer-Sawatzki H, Krawczak M, Cooper DN.
A gene conversion hotspot in the human growth hormone (GH1) gene promoter.
Hum Mutat, 30 (2009), 239-247.  [abstract]

Feulner TM, Laws SM, Friedrich P, Wagenpfeil S, Wurst SH, Riehle C, Kuhn KA, Krawczak M, Schreiber S, Nikolaus S, Förstl H, Kurz A, Riemenschneider M.
Examination of the current top candidate genes for AD in a genome-wide association study.
Mol Psychiatry, (2009).  [abstract]

Singh KK, Krawczak M, Dawson WW, Schmidtke J.
Association of HTRA1 and ARMS2 gene variation with drusen formation in rhesus macaques.
Exp Eye Res, 88 (2009), 479-82.  [abstract]

Schmidtke J, Krawczak M.
Psychomotor developmental delay and epilepsy in an offspring of father-daughter incest: quantification of the causality probability.
Int J Legal Med, (2009).  [abstract]

Schafmayer C, Buch S, Völzke H, von Schönfels W, Egberts JH, Schniewind B, Brosch M, Ruether A, Franke A, Mathiak M, Sipos B, Henopp T, Catalcali J, Hellmig S, ElSharawy A, Katalinic A, Lerch MM, John U, Fölsch UR, Fändrich F, Kalthoff H, Schreiber S, Krawczak M, Tepel J, Hampe J.
Investigation of the colorectal cancer susceptibility region on chromosome 8q24.21 in a large German case-control sample.
Int J Cancer, 124 (2009), 75-80.  [abstract]

Nothnagel M, Ellinghaus D, Schreiber S, Krawczak M, Franke A.
A comprehensive evaluation of SNP genotype imputation.
Hum Genet, 125 (2009), 163-71.  [abstract]

Wolf A, Millar DS, Caliebe A, Horan M, Newsway V, Kumpf D, Steinmann K, Chee IS, Lee YH, Mutirangura A, Pepe G, Rickards O, Schmidtke J, Schempp W, Chuzhanova N, Kehrer-Sawatzki H, Krawczak M, Cooper DN.
A gene conversion hotspot in the human growth hormone (GH1) gene promoter.
Hum Mutat, 30 (2009), 239-47.  [abstract]

Fritsche LG, Freitag-Wolf S, Bettecken T, Meitinger T, Keilhauer CN, Krawczak M, Weber BH.
Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene.
Hum Mutat, 30 (2009), 1048-53.  [abstract]

Siddiqui RA, Sauermann U, Altmüller J, Fritzer E, Nothnagel M, Dalibor N, Fellay J, Kaup FJ, Stahl-Hennig C, Nürnberg P, Krawczak M, Platzer M.
X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected women.
Am J Hum Genet, 85 (2009), 228-39.  [abstract]

Möckelmann N, von Schönfels W, Buch S, von Kampen O, Sipos B, Egberts JH, Rosenstiel P, Franke A, Brosch M, Hinz S, Röder C, Kalthoff H, Fölsch UR, Krawczak M, Schreiber S, Bröring CD, Tepel J, Schafmayer C, Hampe J.
Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer.
BMC Gastroenterol, 9 (2009), 79.  [abstract]

Nebel A, Flachsbart F, Till A, Caliebe A, Blanché H, Arlt A, Häsler R, Jacobs G, Kleindorp R, Franke A, Shen B, Nikolaus S, Krawczak M, Rosenstiel P, Schreiber S.
A functional EXO1 promoter variant is associated with prolonged life expectancy in centenarians.
Mech Ageing Dev, 130 (2009), 691-99.  [abstract]

Hofmann S, Franke A, Fischer A, Jacobs G, Nothnagel M, Gaede KI, Schürmann M, Müller-Quernheim J, Krawczak M, Rosenstiel P, Schreiber S.
Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis.
Nat Genet, (2008).  [abstract]

Schafmayer C, Freitag-Wolf S, Wolken H, Buch S, Brosch M, Egberts JH, Shekarriz H, Fölsch UR, Fändrich F, Krawczak M, Schreiber S, Tepel J, Hampe J.
Increased heritability of gallstone disease in early onset cases.
Liver Int, 28 (2008), 895-7. 

Bosy-Westphal A, Wolf A, Bührens F, Hitze B, Czech N, Mönig H, Selberg O, Settler U, Pfeuffer M, Schrezenmeir J, Krawczak M, Müller MJ.
Familial influences and obesity-associated metabolic risk factors contribute to the variation in resting energy expenditure: the Kiel Obesity Prevention Study.
Am J Clin Nutr, 87 (2008), 1695-701.  [abstract]

Franke A, Balschun T, Karlsen TH, Hedderich J, May S, Lu T, Schuldt D, Nikolaus S, Rosenstiel P, Krawczak M, Schreiber S.
Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis.
Nat Genet, 40 (2008), 713-5.  [abstract]

Kirsch S, Pasantes J, Wolf A, Bogdanova N, Muench C, Pennekamp P, Krawczak M, Dworniczak B, Schempp W.
Chromosomal evolution of the PKD1 gene family in primates.
BMC Evol Biol, 8 (2008), 263.  [abstract]

Oprea GE, Kröber S, McWhorter ML, Rossoll W, Müller S, Krawczak M, Bassell GJ, Beattie CE, Wirth B.
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.
Science, 320 (2008), 524-7.  [abstract]

Milde-Kellers A, Krawczak M, Augustin C, Boomgaarden-Brandes K, Simeoni E, Kaatsch HJ, Mühlbauer B, Schuchardt S.
An illicit love affair during the Third Reich: who is my grandfather?.
J Forensic Sci, 53 (2008), 377-9.  [abstract]

Luca D, Ringquist S, Klei L, Lee AB, Gieger C, Wichmann HE, Schreiber S, Krawczak M, Lu Y, Styche A, Devlin B, Roeder K, Trucco M.
On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants.
Am J Hum Genet, 82 (2008), 453-63.  [abstract]

Sauermann U, Siddiqui R, Suh YS, Platzer M, Leuchte N, Meyer H, Mätz-Rensing K, Stoiber H, Nürnberg P, Hunsmann G, Stahl-Hennig C, Krawczak M.
Mhc class I haplotypes associated with survival time in simian immunodeficiency virus (SIV)-infected rhesus macaques.
Genes Immun, 9 (2008), 69-80.  [abstract]

Nothnagel M, Lu TT, Krawczak M.
Hypotheses in genome-wide association scans.
Eur J Hum Genet, 16 (2008), 1174-5; author reply 1175. 

Franke A, Fischer A, Nothnagel M, Becker C, Grabe N, Till A, Lu T, Müller-Quernheim J, Wittig M, Hermann A, Balschun T, Hofmann S, Niemiec R, Schulz S, Hampe J, Nikolaus S, Nürnberg P, Krawczak M, Schürmann M, Rosenstiel P, Nebel A, Schreiber S.
Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2.
Gastroenterology, 135 (2008), 1207-15.  [abstract]

Franke A, Balschun T, Karlsen TH, Sventoraityte J, Nikolaus S, Mayr G, Domingues FS, Albrecht M, Nothnagel M, Ellinghaus D, Sina C, Onnie CM, Weersma RK, Stokkers PC, Wijmenga C, Gazouli M, Strachan D, McArdle WL, Vermeire S, Rutgeerts P, Rosenstiel P, Krawczak M, Vatn MH, , Mathew CG, Schreiber S.
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.
Nat Genet, 40 (2008), 1319-23.  [abstract]

Lao O, Lu TT, Nothnagel M, Junge O, Freitag-Wolf S, Caliebe A, Balascakova M, Bertranpetit J, Bindoff LA, Comas D, Holmlund G, Kouvatsi A, Macek M, Mollet I, Parson W, Palo J, Ploski R, Sajantila A, Tagliabracci A, Gether U, Werge T, Rivadeneira F, Hofman A, Uitterlinden AG, Gieger C, Wichmann HE, Rüther A, Schreiber S, Becker C, Nürnberg P, Nelson MR, Krawczak M, Kayser M.
Correlation between genetic and geographic structure in Europe.
Curr Biol, 18 (2008), 1241-8.  [abstract]

Singh KK, Dawson WW, Krawczak M, Schmidtke J.
IMPG1 gene variation in rhesus macular drusen.
Vet Ophthalmol, 10 (2007 Sep-Oct), 274-7.  [abstract]

Bosy-Westphal A, Onur S, Geisler C, Wolf A, Korth O, Pfeuffer M, Schrezenmeir J, Krawczak M, Müller MJ.
Common familial influences on clustering of metabolic syndrome traits with central obesity and insulin resistance: the Kiel obesity prevention study.
Int J Obes (Lond), 31 (2007), 784-90.  [abstract]

Bogdanova N, Horst J, Chlystun M, Croucher PJ, Nebel A, Bohring A, Todorova A, Schreiber S, Gerke V, Krawczak M, Markoff A.
A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss.
Hum Mol Genet, 16 (2007), 573-8.  [abstract]

Hampe J, Franke A, Rosenstiel P, Till A, Teuber M, Huse K, Albrecht M, Mayr G, De La Vega FM, Briggs J, Günther S, Prescott NJ, Onnie CM, Häsler R, Sipos B, Fölsch UR, Lengauer T, Platzer M, Mathew CG, Krawczak M, Schreiber S.
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1.
Nat Genet, 39 (2007), 207-11.  [abstract]

Buch S, Schafmayer C, Völzke H, Becker C, Franke A, von Eller-Eberstein H, Kluck C, Bässmann I, Brosch M, Lammert F, Miquel JF, Nervi F, Wittig M, Rosskopf D, Timm B, Höll C, Seeger M, ElSharawy A, Lu T, Egberts J, Fändrich F, Fölsch UR, Krawczak M, Schreiber S, Nürnberg P, Tepel J, Hampe J.
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
Nat Genet, 39 (2007), 995-9.  [abstract]

Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini P, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen TA, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud P, Wollnik B, Krawczak M, Labuda D, Utermann G.
Age and origin of major Smith-Lemli-Opitz Syndrome (SLOS) mutations in European populations.
J Med Genet, (2007).  [abstract]

Vyletal P, Sokolová J, Cooper DN, Kraus JP, Krawczak M, Pepe G, Rickards O, Koch HG, Linnebank M, Kluijtmans LA, Blom HJ, Boers GH, Gaustadnes M, Skovby F, Wilcken B, Wilcken DE, Andria G, Sebastio G, Naughten ER, Yap S, Ohura T, Pronicka E, Laszlo A, Kozich V.
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
Hum Mutat, 28 (2007), 255-64.  [abstract]

Wollstein A, Herrmann A, Wittig M, Nothnagel M, Franke A, Nürnberg P, Schreiber S, Krawczak M, Hampe J.
Efficacy assessment of SNP sets for genome-wide disease association studies.
Nucleic Acids Res, 35 (2007), e113.  [abstract]

Caliebe A, Neininger R, Krawczak M, Rösler U.
On the length distribution of external branches in coalescence trees: genetic diversity within species.
Theor Popul Biol, 72 (2007), 245-52.  [abstract]

Schafmayer C, Völzke H, Buch S, Egberts J, Spille A, von Eberstein H, Franke A, Seeger M, Hinz S, Elsharawy A, Rosskopf D, Brosch M, Krawczak M, Foelsch UR, Schafmayer A, Lammert F, Schreiber S, Faendrich F, Hampe J, Tepel J.
Investigation of the Lith6 candidate genes APOBEC1 and PPARG in human gallstone disease.
Liver Int, 27 (2007), 910-9.  [abstract]

Franke A, Hampe J, Rosenstiel P, Becker C, Wagner F, Häsler R, Little RD, Huse K, Ruether A, Balschun T, Wittig M, Elsharawy A, Mayr G, Albrecht M, Prescott NJ, Onnie CM, Fournier H, Keith T, Radelof U, Platzer M, Mathew CG, Stoll M, Krawczak M, Nürnberg P, Schreiber S.
Systematic association mapping identifies NELL1 as a novel IBD disease gene.
PLoS ONE, 2 (2007), e691.  [abstract]

Nothnagel M, Wollstein A, Krawczak M.
Comparative assessment of the association information captured by SNP tagging.
Hum Hered, 64 (2007), 27-34.  [abstract]

Schafmayer C, Buch S, Egberts JH, Franke A, Brosch M, El Sharawy A, Conring M, Koschnick M, Schwiedernoch S, Katalinic A, Kremer B, Fölsch UR, Krawczak M, Fändrich F, Schreiber S, Tepel J, Hampe J.
Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer.
Int J Cancer, 121 (2007), 555-8.  [abstract]

Simon J, Paslack R, Robienski J, Cooper DN, Goebel JW, Krawczak M.
A legal framework for biobanking: the German experience.
Eur J Hum Genet, 15 (2007), 528-32.  [abstract]

Krawczak M, Thomas NS, Hundrieser B, Mort M, Wittig M, Hampe J, Cooper DN.
Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.
Hum Mutat, 28 (2007), 150-8.  [abstract]

El-Harith el-HA, Kühnau W, Schmidtke J, Gadzicki D, Ahmed M, Krawczak M, Stuhrmann M.
Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the ACVRL1 gene in a large Arab family: support of homozygous lethality.
Eur J Med Genet, 49 (2006 Jul-Aug), 323-30.  [abstract]

Krawczak M, Nikolaus S, von Eberstein H, Croucher PJ, El Mokhtari NE, Schreiber S.
PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships.
Community Genet, 9 (2006), 55-61.  [abstract]

Gill P, Brenner CH, Buckleton JS, Carracedo A, Krawczak M, Mayr WR, Morling N, Prinz M, Schneider PM, Weir BS, .
DNA commission of the International Society of Forensic Genetics: Recommendations on the interpretation of mixtures.
Forensic Sci Int, 160 (2006), 90-101.  [abstract]

Widdig A, Nürnberg P, Bercovitch FB, Trefilov A, Berard JB, Kessler MJ, Schmidtke J, Streich WJ, Krawczak M.
Consequences of group fission for the patterns of relatedness among rhesus macaques.
Mol Ecol, 15 (2006), 3825-32.  [abstract]

Zschocke J, Nebel A, Wicks K, Peters V, El Mokhtari NE, Krawczak M, van der Woude F, Janssen B, Schreiber S.
Allelic variation in the CNDP1 gene and its lack of association with longevity and coronary heart disease.
Mech Ageing Dev, 127 (2006), 817-20.  [abstract]

Schafmayer C, Hartleb J, Tepel J, Albers S, Freitag S, Völzke H, Buch S, Seeger M, Timm B, Kremer B, Fölsch UR, Fändrich F, Krawczak M, Schreiber S, Hampe J.
Predictors of gallstone composition in 1025 symptomatic gallstones from Northern Germany.
BMC Gastroenterol, 6 (2006), 36.  [abstract]

Steffens M, Lamina C, Illig T, Bettecken T, Vogler R, Entz P, Suk EK, Toliat MR, Klopp N, Caliebe A, König IR, Köhler K, Ludemann J, Diaz Lacava A, Fimmers R, Lichtner P, Ziegler A, Wolf A, Krawczak M, Nūrnberg P, Hampe J, Schreiber S, Meitinger T, Wichmann HE, Roeder K, Wienker TF, Baur MP.
SNP-based analysis of genetic substructure in the German population.
Hum Hered, 62 (2006), 20-9.  [abstract]

Franke A, Wollstein A, Teuber M, Wittig M, Lu T, Hoffmann K, Nürnberg P, Krawczak M, Schreiber S, Hampe J.
GENOMIZER: an integrated analysis system for genome-wide association data.
Hum Mutat, 27 (2006), 583-8.  [abstract]

Immel UD, Krawczak M, Udolph J, Richter A, Rodig H, Kleiber M, Klintschar M.
Y-chromosomal STR haplotype analysis reveals surname-associated strata in the East-German population.
Eur J Hum Genet, 14 (2006), 577-82.  [abstract]

Horan M, Newsway V, Yasmin , Lewis MD, Easter TE, Rees DA, Mahto A, Millar DS, Procter AM, Scanlon MF, Wilkinson IB, Hall IP, Wheatley A, Blakey J, Bath PM, Cockcroft JR, Krawczak M, Cooper DN.
Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke.
Hum Genet, 119 (2006), 527-40.  [abstract]

McCune CA, Ravine D, Carter K, Jackson HA, Hutton D, Hedderich J, Krawczak M, Worwood M.
Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients.
Gut, (2005).  [abstract]

Roewer L, Croucher PJ, Willuweit S, Lu TT, Kayser M, Lessig R, de Knijff P, Jobling MA, Tyler-Smith C, Krawczak M.
Signature of recent historical events in the European Y-chromosomal STR haplotype distribution.
Hum Genet, 116 (2005), 279-91.  [abstract]

Trefilov A, Croucher PJ, Krawczak M, Schmidtke J.
Genetic influence on reproductive behavior in female rhesus macaques.
Twin Res Hum Genet, 8 (2005), 551-2. 

Singh KK, Ristau S, Dawson WW, Krawczak M, Schmidtke J.
Mapping of a macular drusen susceptibility locus in rhesus macaques to the homologue of human chromosome 6q14-15.
Exp Eye Res, 81 (2005), 401-6.  [abstract]

Szibor R, Hering S, Kuhlisch E, Plate I, Demberger S, Krawczak M, Edelmann J.
Haplotyping of STR cluster DXS6801-DXS6809-DXS6789 on Xq21 provides a powerful tool for kinship testing.
Int J Legal Med, 119 (2005), 363-9.  [abstract]

Ball EV, Stenson PD, Abeysinghe SS, Krawczak M, Cooper DN, Chuzhanova NA.
Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.
Hum Mutat, 26 (2005), 205-13.  [abstract]

Nebel A, Croucher PJ, Stiegeler R, Nikolaus S, Krawczak M, Schreiber S.
No association between microsomal triglyceride transfer protein (MTP) haplotype and longevity in humans.
Proc Natl Acad Sci U S A, 102 (2005), 7906-9.  [abstract]

Schreiber S, Rosenstiel P, Albrecht M, Hampe J, Krawczak M.
Genetics of Crohn disease, an archetypal inflammatory barrier disease.
Nat Rev Genet, 6 (2005), 376-88.  [abstract]

Kwak KD, Jin HJ, Shin DJ, Kim JM, Roewer L, Krawczak M, Tyler-Smith C, Kim W.
Y-chromosomal STR haplotypes and their applications to forensic and population studies in east Asia.
Int J Legal Med, 119 (2005), 195-201.  [abstract]

Valentonyte R, Hampe J, Huse K, Rosenstiel P, Albrecht M, Stenzel A, Nagy M, Gaede KI, Franke A, Haesler R, Koch A, Lengauer T, Seegert D, Reiling N, Ehlers S, Schwinger E, Platzer M, Krawczak M, Müller-Quernheim J, Schürmann M, Schreiber S.
Sarcoidosis is associated with a truncating splice site mutation in BTNL2.
Nat Genet, 37 (2005), 357-64.  [abstract]

Krawczak M, Trefilov A, Berard J, Bercovitch F, Kessler M, Sauermann U, Croucher P, Nürnberg P, Widdig A, Schmidtke J.
Male reproductive timing in Rhesus macaques is influenced by the 5HTTLPR promoter polymorphism of the serotonin transporter gene.
Biol Reprod, 72 (2005), 1109-13.  [abstract]

Wolf A, Caliebe A, Junge O, Krawczak M.
Forensic interpretation of Y-chromosomal DNA mixtures.
Forensic Sci Int, 152 (2005), 209-13.  [abstract]

Caliebe A, Freitag S, Krawczak M.
Stochastische Modelle für Interaktion und Effektmodifikation.
Medizinische genetik, 17 (2005), 14-9. 

Abeysinghe SS, Stenson PD, Krawczak M, Cooper DN.
Gross Rearrangement Breakpoint Database (GRaBD).
Hum Mutat, 23 (2004), 219-21.  [abstract]

Widdig A, Bercovitch FB, Streich WJ, Sauermann U, Nürnberg P, Krawczak M.
A longitudinal analysis of reproductive skew in male rhesus macaques.
Proc Biol Sci, 271 (2004), 819-26.  [abstract]

Schmidtke J, Kühnau W, Wand D, Edelmann J, Szibor R, Krawczak M.
Prenatal exclusion without involving the putative fathers of an incestuous father-daughter parenthood.
Prenat Diagn, 24 (2004), 662-4. 

Stenzel A, Lu T, Koch WA, Hampe J, Guenther SM, De La Vega FM, Krawczak M, Schreiber S.
Patterns of linkage disequilibrium in the MHC region on human chromosome 6p.
Hum Genet, 114 (2004), 377-85.  [abstract]

Bercovitch FB, Widdig A, Trefilov A, Kessler MJ, Berard JD, Schmidtke J, Nürnberg P, Krawczak M.
A longitudinal study of age-specific reproductive output and body condition among male rhesus macaques, Macaca mulatta.
Naturwissenschaften, 90 (2003), 309-12.  [abstract]

Horan M, Millar DS, Hedderich J, Lewis G, Newsway V, Mo N, Fryklund L, Procter AM, Krawczak M, Cooper DN.
Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region.
Hum Mutat, 21 (2003), 408-23.  [abstract]

Hampe J, Schreiber S, Krawczak M.
Entropy-based SNP selection for genetic association studies.
Hum Genet, 114 (2003), 36-43.  [abstract]

Chuzhanova N, Abeysinghe SS, Krawczak M, Cooper DN.
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.
Hum Mutat, 22 (2003), 245-51.  [abstract]

Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN.
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs.
Hum Mutat, 22 (2003), 229-44.  [abstract]

Lessig R, Willuweit S, Krawczak M, Wu FC, Pu CE, Kim W, Henke L, Henke J, Miranda J, Hidding M, Benecke M, Schmitt C, Magno M, Calacal G, Delfin FC, de Ungria MC, Elias S, Augustin C, Tun Z, Honda K, Kayser M, Gusmao L, Amorim A, Alves C, Hou Y, Keyser C, Ludes B, Klintschar M, Immel UD, Reichenpfader B, Zaharova B, Roewer L.
Asian online Y-STR Haplotype Reference Database.
Leg Med (Tokyo), 5 Suppl 1 (2003), S160-3.  [abstract]

Upadhyaya M, Majounie E, Thompson P, Han S, Consoli C, Krawczak M, Cordeiro I, Cooper DN.
Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.
Hum Genet, 112 (2003), 12-7.  [abstract]

Chuzhanova NA, Anassis EJ, Ball EV, Krawczak M, Cooper DN.
Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity.
Hum Mutat, 21 (2003), 28-44.  [abstract]

Turic D, Robinson L, Duke M, Morris DW, Webb V, Hamshere M, Milham C, Hopkin E, Pound K, Fernando S, Grierson A, Easton M, Williams N, Van Den Bree M, Chowdhury R, Gruen J, Stevenson J, Krawczak M, Owen MJ, Williams J.
Linkage disequilibrium mapping provides further evidence of a gene for reading disability on chromosome 6p21.3-22.
Mol Psychiatry, 8 (2003), 176-85.  [abstract]

Krawczak M, Zschocke J.
A role for overdominant selection in phenylketonuria? Evidence from molecular data.
Hum Mutat, 21 (2003), 394-7.  [abstract]

Millar DS, Lewis MD, Horan M, Newsway V, Easter TE, Gregory JW, Fryklund L, Norin M, Crowne EC, Davies SJ, Edwards P, Kirk J, Waldron K, Smith PJ, Phillips JA, Scanlon MF, Krawczak M, Cooper DN, Procter AM.
Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.
Hum Mutat, 21 (2003), 424-40.  [abstract]

Hampe J, Heymann K, Krawczak M, Schreiber S.
Association of inflammatory bowel disease with indicators for childhood antigen and infection exposure.
Int J Colorectal Dis, 18 (2003), 413-7.  [abstract]

Szibor R, Krawczak M, Hering S, Edelmann J, Kuhlisch E, Krause D.
Use of X-linked markers for forensic purposes.
Int J Legal Med, 117 (2003), 67-74.  [abstract]

Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN.
Human Gene Mutation Database (HGMD): 2003 update.
Hum Mutat, 21 (2003), 577-81.  [abstract]

Gusmão L, Krawczak M, Sánchez-Diz P, Alves C, Lopes A, Beleza S, Carracedo A, Amorim A.
Bimodal allele frequency distribution at Y-STR loci DYS392 and DYS438: no evidence for a deviation from the stepwise mutation model.
Int J Legal Med, 117 (2003), 287-90.  [abstract]

Croucher PJ, Mascheretti S, Hampe J, Huse K, Frenzel H, Stoll M, Lu T, Nikolaus S, Yang SK, Krawczak M, Kim WH, Schreiber S.
Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations.
Eur J Hum Genet, 11 (2003), 6-16.  [abstract]

Hampe J, Grebe J, Nikolaus S, Solberg C, Croucher PJ, Mascheretti S, Jahnsen J, Moum B, Klump B, Krawczak M, Mirza MM, Foelsch UR, Vatn M, Schreiber S.
Association of NOD2 (CARD 15) genotype with clinical course of Crohn's disease: a cohort study.
Lancet, 359 (2002), 1661-5.  [abstract]

Cheadle JP, Krawczak M, Thomas MW, Hodges AK, Al-Tassan N, Fleming N, Sampson JR.
Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours.
Cancer Res, 62 (2002), 363-6.  [abstract]

Bercovitch FB, Widdig A, Berard JD, Nürnberg P, Kessler MJ, Schmidtke J, Trefilov A, Krawczak M.
Multiple sirehood in free-ranging twin rhesus macaques (Macaca mulatta).
Am J Primatol, 57 (2002), 31-4.  [abstract]

Cooper DN, Nussbaum RL, Krawczak M.
Proposed guidelines for papers describing DNA polymorphism-disease associations.
Hum Genet, 110 (2002), 207-8.  [abstract]

Mascheretti S, Hampe J, Kühbacher T, Herfarth H, Krawczak M, Fölsch UR, Schreiber S.
Pharmacogenetic investigation of the TNF/TNF-receptor system in patients with chronic active Crohn's disease treated with infliximab.
Pharmacogenomics J, 2 (2002), 127-36.  [abstract]

Norton N, Kirov G, Zammit S, Jones G, Jones S, Owen R, Krawczak M, Williams NM, Owen MJ.
Schizophrenia and functional polymorphisms in the MAOA and COMT genes: no evidence for association or epistasis.
Am J Med Genet, 114 (2002), 491-6.  [abstract]

Terp BN, Cooper DN, Christensen IT, Jørgensen FS, Bross P, Gregersen N, Krawczak M.
Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease.
Hum Mutat, 20 (2002), 98-109.  [abstract]

Mühl T, Krawczak M, Ten Haaft P, Hunsmann G, Sauermann U.
MHC class I alleles influence set-point viral load and survival time in simian immunodeficiency virus-infected rhesus monkeys.
J Immunol, 169 (2002), 3438-46.  [abstract]

McEntagart M, Parsons G, Buj-Bello A, Biancalana V, Fenton I, Little M, Krawczak M, Thomas N, Herman G, Clarke A, Wallgren-Pettersson C.
Genotype-phenotype correlations in X-linked myotubular myopathy.
Neuromuscul Disord, 12 (2002), 939-46.  [abstract]

Williams NM, Spurlock G, Norton N, Williams HJ, Hamshere ML, Krawczak M, Kirov G, Nikolov I, Georgieva L, Jones S, Cardno AG, Owen MJ.
Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach.
Mol Psychiatry, 7 (2002), 1092-100.  [abstract]

Hampe J, Frenzel H, Mirza MM, Croucher PJ, Cuthbert A, Mascheretti S, Huse K, Platzer M, Bridger S, Meyer B, Nürnberg P, Stokkers P, Krawczak M, Mathew CG, Curran M, Schreiber S.
Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16p.
Proc Natl Acad Sci U S A, 99 (2002), 321-6.  [abstract]

Cooper DN, Horan M, Millar DS, Hedderich J, Lewis G, Newsway V, Mo N, Fryklund L, Procter AM, Krawczak M.
Human growth hormone I gene expression is influenced in a complex haplotype-dependent fashion by polymorphic variation in both the proximal promoter and the locus control region.
J Pediatr Endocrinol Metab, 15 Suppl 5 (2002), 1429. 

Chuzhanova NA, Krawczak M, Thomas N, Nemytikova LA, Gusev VD, Cooper DN.
The evolution of the vertebrate beta-globin gene promoter.
Evolution Int J Org Evolution, 56 (2002), 224-32.  [abstract]

Wieland I, Jakubiczka S, Muschke P, Wolf A, Gerlach L, Krawczak M, Wieacker P.
Mapping of a further locus for X-linked craniofrontonasal syndrome.
Cytogenet Genome Res, 99 (2002), 285-8.  [abstract]

Gill P, Brenner C, Brinkmann B, Budowle B, Carracedo A, Jobling MA, de Knijff P, Kayser M, Krawczak M, Mayr WR, Morling N, Olaisen B, Pascali V, Prinz M, Roewer L, Schneider PM, Sajantila A, Tyler-Smith C.
DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs.
Forensic Sci Int, 124 (2001), 5-10.  [abstract]

Winter H, Langbein L, Krawczak M, Cooper DN, Jave-Suarez LF, Rogers MA, Praetzel S, Heidt PJ, Schweizer J.
Human type I hair keratin pseudogene phihHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence.
Hum Genet, 108 (2001), 37-42.  [abstract]

Martín MA, Rubio JC, García A, Fernández MA, Campos Y, Krawczak M, Cooper DN, Arenas J.
Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease.
Clin Genet, 59 (2001), 48-51.  [abstract]

Lessig R, Edelmann J, Krawczak M.
Population genetics of Y-chromosomal microsatellites in Baltic males.
Forensic Sci Int, 118 (2001), 153-7.  [abstract]

Al-Jader LN, Harper PS, Krawczak M, Palmer SR.
The frequency of inherited disorders database: prevalence of Huntington disease.
Community Genet, 4 (2001), 148-57.  [abstract]

Krawczak M.
Forensic evaluation of Y-STR haplotype matches: a comment.
Forensic Sci Int, 118 (2001), 114-5. 

Krawczak M.
ASP--a simulation-based power calculator for genetic linkage studies of qualitative traits, using sib-pairs.
Hum Genet, 109 (2001), 675-7.  [abstract]

Al-Jader LN, Harper PS, Krawczak M, Palmer SR, Johansen BN, Cooper DN.
The Frequency of Inherited Disorders Database.
Hum Genet, 108 (2001), 72-4. 

Widdig A, Nürnberg P, Krawczak M, Streich WJ, Bercovitch FB.
Paternal relatedness and age proximity regulate social relationships among adult female rhesus macaques.
Proc Natl Acad Sci U S A, 98 (2001), 13769-73.  [abstract]

Gill P, Brenner C, Brinkmann B, Budowle B, Carracedo A, Jobling MA, de Knijff P, Kayser M, Krawczak M, Mayr WR, Morling N, Olaisen B, Pascali V, Prinz M, Roewer L, Schneider PM, Sajantila A, Tyler-Smith C.
DNA commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs.
Int J Legal Med, 114 (2001), 305-9.  [abstract]

Krawczak M, Cooper DN, Schmidtke J.
Estimating the efficacy and efficiency of cascade genetic screening.
Am J Hum Genet, 69 (2001), 361-70.  [abstract]

Hampe J, Cuthbert A, Croucher PJ, Mirza MM, Mascheretti S, Fisher S, Frenzel H, King K, Hasselmeyer A, MacPherson AJ, Bridger S, van Deventer S, Forbes A, Nikolaus S, Lennard-Jones JE, Foelsch UR, Krawczak M, Lewis C, Schreiber S, Mathew CG.
Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations.
Lancet, 357 (2001), 1925-8.  [abstract]

Sauermann U, Nürnberg P, Bercovitch FB, Berard JD, Trefilov A, Widdig A, Kessler M, Schmidtke J, Krawczak M.
Increased reproductive success of MHC class II heterozygous males among free-ranging rhesus macaques.
Hum Genet, 108 (2001), 249-54.  [abstract]

Roewer L, Krawczak M, Willuweit S, Nagy M, Alves C, Amorim A, Anslinger K, Augustin C, Betz A, Bosch E, Cagliá A, Carracedo A, Corach D, Dekairelle AF, Dobosz T, Dupuy BM, Füredi S, Gehrig C, Gusmaõ L, Henke J, Henke L, Hidding M, Hohoff C, Hoste B, Jobling MA, Kärgel HJ, de Knijff P, Lessig R, Liebeherr E, Lorente M, Martínez-Jarreta B, Nievas P, Nowak M, Parson W, Pascali VL, Penacino G, Ploski R, Rolf B, Sala A, Schmidt U, Schmitt C, Schneider PM, Szibor R, Teifel-Greding J, Kayser M.
Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes.
Forensic Sci Int, 118 (2001), 106-13.  [abstract]

Kayser M, Krawczak M, Excoffier L, Dieltjes P, Corach D, Pascali V, Gehrig C, Bernini LF, Jespersen J, Bakker E, Roewer L, de Knijff P.
An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations.
Am J Hum Genet, 68 (2001), 990-1018.  [abstract]

Trefilov A, Berard J, Krawczak M, Schmidtke J.
Natal dispersal in rhesus macaques is related to serotonin transporter gene promoter variation.
Behav Genet, 30 (2000), 295-301.  [abstract]

Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.
Hum Mol Genet, 9 (2000), 1119-29.  [abstract]

Tischkowitz M, Wheeler D, France E, Chapman C, Lucassen A, Sampson J, Harper P, Krawczak M, Gray J.
A comparison of methods currently used in clinical practice to estimate familial breast cancer risks.
Ann Oncol, 11 (2000), 451-4.  [abstract]

Chuzhanova NA, Krawczak M, Nemytikova LA, Gusev VD, Cooper DN.
Promoter shuffling has occurred during the evolution of the vertebrate growth hormone gene.
Gene, 254 (2000), 9-18.  [abstract]

Roewer L, Kayser M, de Knijff P, Anslinger K, Betz A, Caglià A, Corach D, Füredi S, Henke L, Hidding M, Kärgel HJ, Lessig R, Nagy M, Pascali VL, Parson W, Rolf B, Schmitt C, Szibor R, Teifel-Greding J, Krawczak M.
A new method for the evaluation of matches in non-recombining genomes: application to Y-chromosomal short tandem repeat (STR) haplotypes in European males.
Forensic Sci Int, 114 (2000), 31-43.  [abstract]

Sauermann U, Stahl-Hennig C, Stolte N, Mühl T, Krawczak M, Spring M, Fuchs D, Kaup FJ, Hunsmann G, Sopper S.
Homozygosity for a conserved Mhc class II DQ-DRB haplotype is associated with rapid disease progression in simian immunodeficiency virus-infected macaques: results from a prospective study.
J Infect Dis, 182 (2000), 716-24.  [abstract]

Krawczak M, Chuzhanova NA, Stenson PD, Johansen BN, Ball EV, Cooper DN.
Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions.
Hum Genet, 107 (2000), 362-5.  [abstract]

Krawczak M, Ball EV, Fenton I, Stenson PD, Abeysinghe S, Thomas N, Cooper DN.
Human gene mutation database-a biomedical information and research resource.
Hum Mutat, 15 (2000), 45-51.  [abstract]

Millar DS, Kemball-Cook G, McVey JH, Tuddenham EG, Mumford AD, Attock GB, Reverter JC, Lanir N, Parapia LA, Reynaud J, Meili E, von Felton A, Martinowitz U, Prangnell DR, Krawczak M, Cooper DN.
Molecular analysis of the genotype-phenotype relationship in factor VII deficiency.
Hum Genet, 107 (2000), 327-42.  [abstract]

Millar DS, Elliston L, Deex P, Krawczak M, Wacey AI, Reynaud J, Nieuwenhuis HK, Bolton-Maggs P, Mannucci PM, Reverter JC, Cachia P, Pasi KJ, Layton DM, Cooper DN.
Molecular analysis of the genotype-phenotype relationship in factor X deficiency.
Hum Genet, 106 (2000), 249-57.  [abstract]

Morris DW, Robinson L, Turic D, Duke M, Webb V, Milham C, Hopkin E, Pound K, Fernando S, Easton M, Hamshere M, Williams N, McGuffin P, Stevenson J, Krawczak M, Owen MJ, Williams J.
Family-based association mapping provides evidence for a gene for reading disability on chromosome 15q.
Hum Mol Genet, 9 (2000), 843-8.  [abstract]

Dechend F, Williams G, Skawran B, Schubert S, Krawczak M, Tyler-Smith C, Schmidtke J.
TSPY variants in six loci on the human Y chromosome.
Cytogenet Cell Genet, 91 (2000), 67-71.  [abstract]

Antonarakis SE, Krawczak M, Cooper DN.
Disease-causing mutations in the human genome.
Eur J Pediatr, 159 Suppl 3 (2000), S173-8.  [abstract]

Schubert S, Dechend F, Skawran B, Krawczak M, Schmidtke J.
Molecular evolution of the murine tspy genes.
Cytogenet Cell Genet, 91 (2000), 239-42.  [abstract]

Hateboer N, Veldhuisen B, Peters D, Breuning MH, San-Millán JL, Bogdanova N, Coto E, van Dijk MA, Afzal AR, Jeffery S, Saggar-Malik AK, Torra R, Dimitrakov D, Martinez I, de Castro SS, Krawczak M, Ravine D.
Location of mutations within the PKD2 gene influences clinical outcome.
Kidney Int, 57 (2000), 1444-51.  [abstract]

Kayser M, Roewer L, Hedman M, Henke L, Henke J, Brauer S, Krüger C, Krawczak M, Nagy M, Dobosz T, Szibor R, de Knijff P, Stoneking M, Sajantila A.
Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs.
Am J Hum Genet, 66 (2000), 1580-8.  [abstract]

Hagelberg E, Kayser M, Nagy M, Roewer L, Zimdahl H, Krawczak M, Lió P, Schiefenhövel W.
Molecular genetic evidence for the human settlement of the Pacific: analysis of mitochondrial DNA, Y chromosome and HLA markers.
Philos Trans R Soc Lond B Biol Sci, 354 (1999), 141-52.  [abstract]

Krawczak M.
Informativity assessment for biallelic single nucleotide polymorphisms.
Electrophoresis, 20 (1999), 1676-81.  [abstract]

Trefilov A, Krawczak M, Berard J, Schmidtke J.
DNA sequence polymorphisms in genes involved in the regulation of dopamine and serotonin metabolism in rhesus macaques.
Electrophoresis, 20 (1999), 1771-7.  [abstract]

Krawczak M, Chuzhanova NA, Cooper DN.
Evolution of the proximal promoter region of the mammalian growth hormone gene.
Gene, 237 (1999), 143-51.  [abstract]

Kehoe P, Krawczak M, Harper PS, Owen MJ, Jones AL.
Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length.
J Med Genet, 36 (1999), 108-11.  [abstract]

Wacey AI, Cooper DN, Liney D, Hovig E, Krawczak M.
Disentangling the perturbational effects of amino acid substitutions in the DNA-binding domain of p53.
Hum Genet, 104 (1999), 15-22.  [abstract]

Krawczak M, Ball EV, Cooper DN.
Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes.
Am J Hum Genet, 63 (1998), 474-88.  [abstract]

Millar DS, Krawczak M, Cooper DN.
Variation of site-specific methylation patterns in the factor VIII (F8C) gene in human sperm DNA.
Hum Genet, 103 (1998), 228-33.  [abstract]

Krawczak M, Cooper DN.
p53 mutations, benzo[a]pyrene and lung cancer.
Mutagenesis, 13 (1998), 319-20. 

Upadhyaya M, Ruggieri M, Maynard J, Osborn M, Hartog C, Mudd S, Penttinen M, Cordeiro I, Ponder M, Ponder BA, Krawczak M, Cooper DN.
Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.
Hum Genet, 102 (1998), 591-7.  [abstract]

Hughes HE, Alderman JK, Krawczak M, Rogers C.
Contracting for clinical genetic services: the Welsh model.
J Med Genet, 35 (1998), 309-13.  [abstract]

Cooper DN, Ball EV, Krawczak M.
The human gene mutation database.
Nucleic Acids Res, 26 (1998), 285-7.  [abstract]

Nürnberg P, Sauermann U, Kayser M, Lanfer C, Manz E, Widdig A, Berard J, Bercovitch FB, Kessler M, Schmidtke J, Krawczak M.
Paternity assessment in rhesus macaques (Macaca mulatta): multilocus DNA fingerprinting and PCR marker typing.
Am J Primatol, 44 (1998), 1-18.  [abstract]

Kayser M, de Knijff P, Dieltjes P, Krawczak M, Nagy M, Zerjal T, Pandya A, Tyler-Smith C, Roewer L.
Applications of microsatellite-based Y chromosome haplotyping.
Electrophoresis, 18 (1997), 1602-7.  [abstract]

Wirth B, Schmidt T, Hahnen E, Rudnik-Schöneborn S, Krawczak M, Müller-Myhsok B, Schönling J, Zerres K.
De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.
Am J Hum Genet, 61 (1997), 1102-11.  [abstract]

Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA, Krawczak M, Sampson JR, Cheadle JP.
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
Hum Mol Genet, 6 (1997), 2155-61.  [abstract]

Macek M, Macek M, Krebsová A, Nash E, Hamosh A, Reis A, Varon-Mateeva R, Schmidtke J, Maestri NE, Sperling K, Krawczak M, Cutting GR.
Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival.
Hum Genet, 99 (1997), 565-72.  [abstract]

Krawczak M, Cooper DN.
The human gene mutation database.
Trends Genet, 13 (1997), 121-2. 

de Knijff P, Kayser M, Caglià A, Corach D, Fretwell N, Gehrig C, Graziosi G, Heidorn F, Herrmann S, Herzog B, Hidding M, Honda K, Jobling M, Krawczak M, Leim K, Meuser S, Meyer E, Oesterreich W, Pandya A, Parson W, Penacino G, Perez-Lezaun A, Piccinini A, Prinz M, Roewer L.
Chromosome Y microsatellites: population genetic and evolutionary aspects.
Int J Legal Med, 110 (1997), 134-49.  [abstract]

Kayser M, Caglià A, Corach D, Fretwell N, Gehrig C, Graziosi G, Heidorn F, Herrmann S, Herzog B, Hidding M, Honda K, Jobling M, Krawczak M, Leim K, Meuser S, Meyer E, Oesterreich W, Pandya A, Parson W, Penacino G, Perez-Lezaun A, Piccinini A, Prinz M, Schmitt C, Roewer L.
Evaluation of Y-chromosomal STRs: a multicenter study.
Int J Legal Med, 110 (1997), 125-33, 141-9.  [abstract]

Sauermann U, Krawczak M, Hunsmann G, Stahl-Hennig C.
Identification of Mhc-Mamu-DQB1 allele combinations associated with rapid disease progression in rhesus macaques infected with simian immunodeficiency virus.
AIDS, 11 (1997), 1196-8. 

Kühnau W, Böhm I, Krawczak M, Schmidtke J.
A paternity case with apparently conflicting multilocus and single-locus DNA typing results.
Electrophoresis, 18 (1997), 1598-601.  [abstract]

Maynard J, Krawczak M, Upadhyaya M.
Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.
Hum Genet, 99 (1997), 674-6.  [abstract]

Wacey AI, Krawczak M, Kemball-Cook G, Cooper DN.
Homology modelling of the catalytic domain of early mammalian protein C: evolution of structural features.
Hum Genet, 101 (1997), 37-42.  [abstract]

Schmucker B, Krawczak M.
Meiotic microdeletion breakpoints in the BRCA1 gene are significantly associated with symmetric DNA-sequence elements.
Am J Hum Genet, 61 (1997), 1454-6. 

Roewer L, Kayser M, Dieltjes P, Nagy M, Bakker E, Krawczak M, de Knijff P.
Analysis of molecular variance (AMOVA) of Y-chromosome-specific microsatellites in two closely related human populations.
Hum Mol Genet, 5 (1996), 1029-33.  [abstract]

Badens C, Thuret I, Michel G, Krawczak M, Mattei JF, Lena-Russo D, Labie D, Elion J.
Novel and unusual deletion-insertion thalassemic mutation in exon 1 of the beta-globin gene.
Hum Mutat, 8 (1996), 89-92. 

Krawczak M, Cooper DN.
Single base-pair substitutions in pathology and evolution: two sides to the same coin.
Hum Mutat, 8 (1996), 23-31.  [abstract]

Cooper DN, Krawczak M.
Human Gene Mutation Database.
Hum Genet, 98 (1996), 629. 

Krawczak M, Wacey A, Cooper DN.
Molecular reconstruction and homology modelling of the catalytic domain of the common ancestor of the haemostatic vitamin-K-dependent serine proteinases.
Hum Genet, 98 (1996), 351-70.  [abstract]

Krawczak M, Reitsma PH, Cooper DN.
The mutational demography of protein C deficiency.
Hum Genet, 96 (1995), 142-6.  [abstract]

Varon R, Magdorf K, Staab D, Wahn HU, Krawczak M, Sperling K, Reis A.
Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene.
Hum Mol Genet, 4 (1995), 1463-4. 

Hallam PJ, Millar DS, Krawczak M, Kakkar VV, Cooper DN.
Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency.
J Med Genet, 32 (1995), 543-5.  [abstract]

Scopes D, Berg LP, Krawczak M, Kakkar VV, Cooper DN.
Polymorphic variation in the human protein C (PROC) gene promoter can influence transcriptional efficiency in vitro.
Blood Coagul Fibrinolysis, 6 (1995), 317-21.  [abstract]

Reitsma PH, Bernardi F, Doig RG, Gandrille S, Greengard JS, Ireland H, Krawczak M, Lind B, Long GL, Poort SR.
Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH.
Thromb Haemost, 73 (1995), 876-89. 

Hallam PJ, Wacey AI, Mannucci PM, Legnani C, Kühnau W, Krawczak M, Kakkar VV, Cooper DN.
A novel missense mutation (Thr176-->Ile) at the putative hinge of the neo N-terminus of activated protein C.
Hum Genet, 95 (1995), 447-50.  [abstract]

Krawczak M, Cooper DN.
Core database.
Nature, 374 (1995), 402. 

Krawczak M, Lubjuhn T.
An informativity index for multilocus DNA fingerprints.
Electrophoresis, 16 (1995), 16-21.  [abstract]

Krawczak M, Smith-Sorensen B, Schmidtke J, Kakkar VV, Cooper DN, Hovig E.
Somatic spectrum of cancer-associated single basepair substitutions in the TP53 gene is determined mainly by endogenous mechanisms of mutation and by selection.
Hum Mutat, 5 (1995), 48-57.  [abstract]

Winter PC, Scopes DA, Berg LP, Millar DS, Kakkar VV, Mayne EE, Krawczak M, Cooper DN.
Functional analysis of an unusual length polymorphism in the human antithrombin III (AT3) gene promoter.
Blood Coagul Fibrinolysis, 6 (1995), 659-64.  [abstract]

Krawczak M.
Locus homogeneity for cartilage-hair hypoplasia proven?.
Hum Genet, 96 (1995), 371-2. 

Mertes G, Ludwig M, Finkelnburg B, Krawczak M, Schwaab R, Brackmann HH, Olek K.
A G+3-to-T donor splice site mutation leads to skipping of exon 50 in von Willebrand factor mRNA.
Genomics, 24 (1994), 190-1. 

Krawczak M.
Multilocus DNA fingerprinting: the independence problem in quantitative paternity testing.
Electrophoresis, 15 (1994), 165-9.  [abstract]

Dörk T, Will K, Grade K, Krawczak M, Tümmler B.
A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction.
Hum Mutat, 4 (1994), 65-70.  [abstract]

Bartels I, Bockel B, Caesar J, Krawczak M, Thiele M, Rauskolb R.
Risk of fetal Down's syndrome based on maternal age and varying combinations of maternal serum markers.
Arch Gynecol Obstet, 255 (1994), 57-64.  [abstract]

Wacey AI, Krawczak M, Kakkar VV, Cooper DN.
Determinants of the factor IX mutational spectrum in haemophilia B: an analysis of missense mutations using a multi-domain molecular model of the activated protein.
Hum Genet, 94 (1994), 594-608.  [abstract]

Krawczak M, Schmidtke J, Epplen JT, Hansmann I, Thies U.
A multilocus DNA fingerprint with built-in security devices.
Med Sci Law, 34 (1994), 256-62.  [abstract]

Krawczak M, Böhm I, Nürnberg P, Hampe J, Hundrieser J, Pöche H, Peters C, Slomski R, Kwiatkowska J, Nagy M.
Paternity testing with oligonucleotide multilocus probe (CAC)5/(GTG)5: a multicenter study.
Forensic Sci Int, 59 (1993), 101-17.  [abstract]

Nürnberg P, Berard JD, Bercovitch F, Epplen JT, Schmidtke J, Krawczak M.
Oligonucleotide fingerprinting of free-ranging and captive rhesus macaques from Cayo Santiago: paternity assignment and comparison of heterozygosity.
EXS, 67 (1993), 445-51.  [abstract]

Krawczak M, Bockel B.
The formal analysis of multilocus DNA fingerprints.
EXS, 67 (1993), 249-55.  [abstract]

Böhm I, Krawczak M, Nürnberg P, Hampe J, Hundrieser J, Pöche H, Peters C, Slomski R, Kwiatkowska J, Nagy M.
Oligonucleotide DNA fingerprinting: results of a multi-center study on reliability and validity.
EXS, 67 (1993), 257-60.  [abstract]

Krawczak M, Reiss J, Cooper DN.
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences.
Hum Genet, 90 (1992 Sep-Oct), 41-54.  [abstract]

Krawczak M, Bockel B.
A genetic factor model for the statistical analysis of multilocus DNA fingerprints.
Electrophoresis, 13 (1992 Jan-Feb), 10-7.  [abstract]

Krawczak M, Schmidtke J.
The decision theory of paternity disputes: optimization considerations applied to multilocus DNA fingerprinting.
J Forensic Sci, 37 (1992), 1525-33.  [abstract]

Dörk T, Neumann T, Wulbrand U, Wulf B, Kälin N, Maass G, Krawczak M, Guillermit H, Ferec C, Horn G.
Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.
Hum Genet, 88 (1992), 417-25.  [abstract]

Krawczak M, Bockel B.
Does the omission of missing information bias the estimates of age-at-onset distributions?.
Am J Hum Genet, 50 (1992), 652-4. 

Bockel B, Nürnberg P, Krawczak M.
Likelihoods of multilocus DNA fingerprints in extended families.
Am J Hum Genet, 51 (1992), 554-61.  [abstract]

Grundy CB, Schulman S, Krawczak M, Kobosko J, Kakkar VV, Cooper DN.
Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene.
Hum Genet, 88 (1992), 586-8.  [abstract]

Stuhrmann M, Dörk T, Krawczak M, Dueck M, Banholzer U, Domagk J, Hoffknecht N, Posselt HG, Reis A, Schlösser M.
Genotype-phenotype correlations in cystic fibrosis patients.
Adv Exp Med Biol, 290 (1991), 97-101; discussion 102-3.  [abstract]

Bürger J, Macek M, Stuhrmann M, Reis A, Krawczak M, Schmidtke J.
Genetic influences in the formation of nasal polyps.
Lancet, 337 (1991), 974. 

Krawczak M, Bockel B, Sandkuijl L, Thies U, Fenton I, Harper PS.
Covariate-dependent age-at-onset distributions for Huntington disease.
Am J Hum Genet, 49 (1991), 735-45.  [abstract]

Krawczak M, Bockel B.
DNA-fingerprinting: a short note on mutation rates.
Hum Genet, 87 (1991), 632-3. 

Grundy CB, Thomas F, Millar DS, Krawczak M, Melissari E, Lindo V, Moffat E, Kakkar VV, Cooper DN.
Recurrent deletion in the human antithrombin III gene.
Blood, 78 (1991), 1027-32.  [abstract]

Reiss J, Cooper DN, Bal J, Slomski R, Cutting GR, Krawczak M.
Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.
Hum Genet, 87 (1991), 457-61.  [abstract]

Cooper DN, Krawczak M.
Mechanisms of insertional mutagenesis in human genes causing genetic disease.
Hum Genet, 87 (1991), 409-15.  [abstract]

Wulbrand U, Dörk T, Tümmler B, Krawczak M.
Genetic determinants in cystic fibrosis.
Lancet, 337 (1991), 623. 

Günther E, Kiesel U, Kolb H, Krawczak M, Rothermel E, Wurst W.
Genetic analysis of susceptibility to diabetes mellitus in F2-hybrids between diabetes-prone BB and various MHC-recombinant congenic rat strains.
J Autoimmun, 4 (1991), 543-51.  [abstract]

Krawczak M, Cooper DN.
Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.
Hum Genet, 86 (1991), 425-41.  [abstract]

Macek M, Vavrova V, Boehm I, Stuhrmann M, Reis A, Macek M, Duspisova R, Jelinkova E, Sperling K, Krawczak M.
Frequency of the delta-F508 mutation and flanking marker haplotypes at the cystic fibrosis locus from 167 Czech families.
Adv Exp Med Biol, 290 (1991), 373-5. 

Bal J, Maciejko D, Mazurczak T, Potocka A, Krawczak M, Reiss J.
Frequency of the cystic fibrosis mutation delta F508 in Poland.
Hum Genet, 86 (1991), 329. 

Macek M, Vavrová V, Böhm I, Stuhrmann M, Reis A, Duspivová R, Macek M, Sperling K, Krawczak M, Schmidtke J.
Frequency of the delta F508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families.
Hum Genet, 85 (1990), 417-8.  [abstract]

Reiss J, Krawczak M, Schloesser M, Wagner M, Cooper DN.
The effect of replication errors on the mismatch analysis of PCR-amplified DNA.
Nucleic Acids Res, 18 (1990), 973-8.  [abstract]

Stuhrmann M, Macek M, Reis A, Schmidtke J, Tümmler B, Dörk T, Vavrova V, Macek M, Krawczak M.
Genotype analysis of cystic fibrosis patients in relation to pancreatic sufficiency.
Lancet, 335 (1990), 738-9. 

Cooper DN, Krawczak M.
The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions.
Hum Genet, 85 (1990), 55-74.  [abstract]

Reiss J, Schlösser M, Wagner M, Lenz U, Krawczak M, Ammann G, Klösser S, Böwing B.
[Direct genetic diagnosis in cystic fibrosis].
Monatsschr Kinderheilkd, 138 (1990), 434-7.  [abstract]

Krawczak M, Reiss J, Schmidtke J, Rösler U.
Polymerase chain reaction: replication errors and reliability of gene diagnosis.
Nucleic Acids Res, 17 (1989), 2197-201.  [abstract]

Trefz FK, Lichter-Konecki U, Krawczak M, Schmidtke J, Dueck M, Nützenadel W, Konecki DS.
[DNA diagnosis of monogene hereditary diseases exemplified by phenylketonuria and mucoviscidosis].
Monatsschr Kinderheilkd, 137 (1989), 201-7.  [abstract]

Krawczak M, Reis A, Schmidtke J.
[Molecular genetics and diagnostic certainty--the example of cystic fibrosis].
Dtsch Med Wochenschr, 114 (1989), 929-30. 

Wiedeking K, Schmidtke J, Krawczak M.
[Genetic counseling--not a short process. Gene diagnosis and the fate of the family--cystic fibrosis as an example].
Fortschr Med, 107 (1989), 435-6. 

Reiss J, Krawczak M, Gal A, Zerres K, Kaiser R, Weber J.
[An at-risk pregnancy of a carrier of cystic fibrosis (mucoviscidosis) with a new partner].
Monatsschr Kinderheilkd, 137 (1989), 451-3.  [abstract]

Cooper DN, Krawczak M.
Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes.
Hum Genet, 83 (1989), 181-8.  [abstract]

Jakubiczka S, Arnemann J, Cooke HJ, Krawczak M, Schmidtke J.
A search for restriction fragment length polymorphism on the human Y chromosome.
Hum Genet, 84 (1989), 86-8.  [abstract]

Schmidtke J, Krawczak M.
Sex difference in D7S8 marker allele distribution in adult cystic fibrosis patients.
Lancet, 1 (1989), 393. 

Böhm D, Krawczak M, Schmidtke J.
Linkage of the DNA-segment D7S13 (pB79a) with the cystic fibrosis locus.
Hum Genet, 78 (1988), 186-7.  [abstract]

Schmidtke J, Krawczak M.
[Prenatal diagnosis of cystic fibrosis with molecular genetic methods].
Gynakologe, 21 (1988), 119-24. 

Gellert G, Peterson J, Krawczak M, Zoll B.
Linkage relationship between retinoschisis and four marker loci.
Hum Genet, 79 (1988), 382-4.  [abstract]

Krawczak M, Konecki DS, Schmidtke J, Dück M, Engel W, Nützenadel W, Trefz FK.
Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families.
Hum Genet, 80 (1988), 78-80.  [abstract]

Krawczak M.
Algorithms for the restriction-site mapping of DNA molecules.
Proc Natl Acad Sci U S A, 85 (1988), 7298-301.  [abstract]

Schwartz M, Super M, Schmidtke J, Buys C, Farrall M, Halley D, Krawczak M, Poncin JE, Loukopoulos D, Devoto M.
Prenatal diagnosis of cystic fibrosis using linked DNA probes.
Prenat Diagn, 8 (1988), 619-24.  [abstract]

Schmidtke J, Krawczak M.
[Prenatal diagnosis of cystic fibrosis with recombinant DNA methods].
Monatsschr Kinderheilkd, 135 (1987), 805-10.  [abstract]

Schmidtke J, Krawczak M, Schwartz M, Alkan M, Bonduelle M, Bühler E, Chemke M, Darnedde T, Domagk J, Engel W.
Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci.
Hum Genet, 76 (1987), 337-43.  [abstract]

Wilichowski E, Krawczak M, Seemanova E, Hanefeld F, Schmidtke J.
Genetic linkage study between the loci for Duchenne and Becker muscular dystrophy and nine X-chromosomal DNA markers.
Hum Genet, 75 (1987), 32-40.  [abstract]

Krawczak M.
Genetic risk and recombination fraction--an example of non-monotonic dependency.
Hum Genet, 75 (1987), 189-90.  [abstract]

Schmidtke J, Krawczak M, Cooper DN.
Human gene cloning: the storm before the lull?.
Nature, 322 (1986 Jul 10-16), 119. 

Zoll B, Arnemann J, Krawczak M, Cooper DN, Pescia G, Wahli W, Steinbach P, Schmidtke J.
Evidence against close linkage of the loci for fraXq of Martin-Bell syndrome and for factor IX.
Hum Genet, 71 (1985), 122-6.  [abstract]