AG Kehrer-Sawatzki

Zusammensetzung der Arbeitsgruppe:          

• Messiaen L, Vogt J, Bengesser K, Fu C, Mikhail F, Serra R, Garcia-Linares C, Cooper DN, Lazaro C, Kehrer-Sawatzki H. (2011) Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum Mutat. in press
• Bengesser K, Cooper DN, Steinmann K, Kluwe L, Chuzhanova NA, Wimmer K, Tatagiba M, Tinschert S, Mautner V.-F., Kehrer-Sawatzki H (2010) A novel third type of recurrent NF1 microdeletion mediated by non-allelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2, Hum Mutat. 31:742-751
• Chen J-M, Cooper DN, Férec C, Kehrer-Sawatzki H, Patrinos G (2010) Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol. 20:222-233
• Cooper DN, Chen JM, Ball EV, Howells K, Mort M, Phillips AD, Chuzhanova N, Krawczak M, Kehrer-Sawatzki H, Stenson PD. (2010) Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Hum Mutat. 31:631-655
• Ganster C, Wernstedt A, Kehrer-Sawatzki H, Messiaen L, Schmidt K, Rahner N, Heinimann K, Fonatsch C, Zschocke J, Wimmer K (2010) Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event. Hum Mutat. 31:552-560
• Garcia-Linares C, Fernández-Rodríguez J, Terribas E, Mercadé J, Pros E, Benito L, Benavente Y, Capella G, Ravella A, Blanco I, Kehrer-Sawatzki H, Lázaro C, Serra E (2010) Dissecting Loss of Heterozygosity (LOH) In Neurofibromatosis Type 1-Associated Neurofibromas: Importance of copy neutral LOH. Hum Mutat im Druck, (IF: 7,923)
• Mautner VF, Kluwe L, Friedrich RE, Roehl AC, Bammert S, Högel J, Spöri H, Cooper DN, Kehrer-Sawatzki H. (2010) Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. J Med Genet. 47:623-630.
• Roehl AC, Cooper DN, Kluwe L, Helbrich A, Wimmer K, Högel J, Mautner VF, Kehrer-Sawatzki H (2010) Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions? Hum Mutat 31:325-334. (IF: 7,923)
• Roehl AC, Vogt J, Mussotter T, Zickler AN, Spöri H, Högel J, Chuzhanova NA, Wimmer K, Kluwe L, Mautner VF, Cooper DN, Kehrer-Sawatzki H. (2010) Intrachromosomal mitotic non-allelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. Hum Mutat. 31:1163-1173
• Kemkemer C, Kohn M, Kehrer-Sawatzki H, Fundele RH, Hameister H (2009) Enrichment of brain-related genes on the mammalian X chromosome is ancient and predates the divergence of synapsid and sauropsid lineages. Chromosome Res 17:811-820. (IF: 3,4)
• Fauth C, Kehrer-Sawatzki H, Zatkova A, Machherndl-Spandl S, Messiaen L, Amann G, Hainfellner JA, Wimmer K (2009) Two sporadic spinal neurofibromatosis patients with malignant peripheral nerve sheath tumour. Eur J Med Genet 52:409-414. (IF: 1,78)
li>Chauvin A, Chen JM, Quemener S, Masson E, Kehrer-Sawatzki H, Ohmle B, Cooper DN, Le Maréchal C, Férec C (2009) Elucidation of the complex structure and origin of the human trypsinogen locus triplication. Hum Mol Genet 18:3605-3614. (IF: 7,25)
• Kolb J, Chuzhanova NA, Högel J, Vasquez KM, Cooper DN, Bacolla A, Kehrer-Sawatzki H (2009) Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes. Chromosome Res 17:469-483 (IF: 3,007)
• Kemkemer C, Kohn M, Cooper DN, Froenicke L, Hoegel J, Hameister H, Kehrer-Sawatzki H (2009) Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution. BMC Evolutionary Biology 9:84. (IF: 4,01)
• 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 (2009) A gene conversion hotspot in the human growth hormone (GH1) gene promoter. Hum Mutat 30:239-247. (IF: 7,923)
• Steinmann K, Kluwe L, Friedrich RE, Mautner VF, Cooper DN, Kehrer-Sawatzki H (2009) Mechanisms of loss of heterozygosity in Neurofibromatosis Type 1-associated plexiform neurofibromas. J Invest Dermatol 129:615-621. (IF: 4,829)
• Kehrer-Sawatzki H, Cooper DN (2008a) Mosaicism in Sporadic Neurofibromatosis Type 1: Variations on a Theme Common to Other Hereditary Cancer Syndromes? J Med Genet 45:622-631. (IF: 5,535)
• Kehrer-Sawatzki H, Cooper DN (2008b) Comparative analysis of copy number variation in primate genomes. Cytogenet Genome Res 123:288-296. (IF: 2,067)
• Kehrer-Sawatzki H, Cooper DN (2008c) Molecular mechanisms of chromosomal rearrangement in primate evolution. Chromosome Res 16:41-56. (IF: 3,007)
• Steinmann K, Kluwe L, Cooper DN, Brems H, De Raedt T, Legius E, Mautner VF, Kehrer-Sawatzki H (2008) Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions. Eur J Hum Genet 16:572-580. (IF: 4,003)
• Kehrer-Sawatzki H, Schmid E, Fünsterer C, Kluwe L, Mautner V-F (2008) Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the classical 1.4 Mb microdeleted region. Am J Med Genet 146A:691-699. (IF: 1,913)
• Kuhl A, Melberg A, Meinl E, Nürnberg G, Nürnberg P, Kehrer-Sawatzki H, Jenne DE (2008) Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. Eur J Hum Genet 16:367-373. (IF: 4,003)
• Steinmann K, Cooper DN, Kluwe L, Chuzhanova NA, Senger C, Serra E, Lazaro C, Gilaberte M, Wimmer K, Mautner V-F, Kehrer-Sawatzki H (2007) Type-2 NF1 deletions are highly unusual by virtue of the absence of non-allelic homologous recombination hotspots and an apparent preference for female mitotic recombination. Am J Hum Genet 81:1201-1220. (IF: 12,649)
• Kohn M, Kehrer-Sawatzki H, Steinbach P, Marshall Graves JA, Hameister H (2007) Recruitment of old genes to new functions: evidences obtained by comparing the orthologues of human XLMR genes in mouse and chicken. Cytogenet Genome Res 116:173-180. (IF: 2,067)
• Gibbs RA, Rogers J, Katze MG, Bumgarner R, Weinstock GM, Mardis ER, Remington KA, Strausberg RL, Venter JC, Wilson RK, Batzer MA, Bustamante CD, Eichler EE, Hahn MW, Hardison RC, Makova KD, Miller W, Milosavljevic A, Palermo RE, Siepel A, Sikela JM, Attaway T, Bell S, Bernard KE, Buhay CJ, Chandrabose MN, Dao M, Davis C, Delehaunty KD, Ding Y, Dinh HH, Dugan-Rocha S, Fulton LA, Gabisi RA, Garner TT, Godfrey J, Hawes AC, Hernandez J, Hines S, Holder M, Hume J, Jhangiani SN, Joshi V, Khan ZM, Kirkness EF, Cree A, Fowler RG, Lee S, Lewis LR, Li Z, Liu YS, Moore SM, Muzny D, Nazareth LV, Ngo DN, Okwuonu GO, Pai G, Parker D, Paul HA, Pfannkoch C, Pohl CS, Rogers YH, Ruiz SJ, Sabo A, Santibanez J, Schneider BW, Smith SM, Sodergren E, Svatek AF, Utterback TR, Vattathil S, Warren W, White CS, Chinwalla AT, Feng Y, Halpern AL, Hillier LW, Huang X, Minx P, Nelson JO, Pepin KH, Qin X, Sutton GG, Venter E, Walenz BP, Wallis JW, Worley KC, Yang SP, Jones SM, Marra MA, Rocchi M, Schein JE, Baertsch R, Clarke L, Csuros M, Glasscock J, Harris RA, Havlak P, Jackson AR, Jiang H, Liu Y, Messina DN, Shen Y, Song HX, Wylie T, Zhang L, Birney E, Han K, Konkel MK, Lee J, Smit AF, Ullmer B, Wang H, Xing J, Burhans R, Cheng Z, Karro JE, Ma J, Raney B, She X, Cox MJ, Demuth JP, Dumas LJ, Han SG, Hopkins J, Karimpour-Fard A, Kim YH, Pollack JR, Vinar T, Addo-Quaye C, Degenhardt J, Denby A, Hubisz MJ, Indap A, Kosiol C, Lahn BT, Lawson HA, Marklein A, Nielsen R, Vallender EJ, Clark AG, Ferguson B, Hernandez RD, Hirani K, Kehrer-Sawatzki H, Kolb J, Patil S, Pu LL, Ren Y, Smith DG, Wheeler DA, Schenck I, Ball EV, Chen R, Cooper DN, Giardine B, Hsu F, Kent WJ, Lesk A, Nelson DL, O'brien WE, Prufer K, Stenson PD, Wallace JC, Ke H, Liu XM, Wang P, Xiang AP, Yang F, Barber GP, Haussler D, Karolchik D, Kern AD, Kuhn RM, Smith KE, Zwieg AS, The Rhesus macaque Genome Sequencing and Analysis consortium (2007) Evolutionary and biomedical insights from the rhesus macaque genome sequence. Science 316:222-234. (IF: 30,9)
• Leybrand S, Rossier E, Barbi G, Cooper DN, Kehrer-Sawatzki H (2007) Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis. Genomic Medicine 1:65-73.
• Szamalek JM, Cooper DN, Hoegel J, Hameister H, Kehrer-Sawatzki H (2007) Chromosomal speciation of humans and chimpanzees revisited: studies of DNA divergence within inverted regions. Cytogenet Genome Res 116:53-60. (IF: 2,067)
• Kehrer-Sawatzki H (2007) What a difference CNVs make. Bioessays 29:311-313. (IF: 6,787)
• Kehrer-Sawatzki H, Cooper DN (2007a) Structural divergence between the human and chimpanzee genomes. Hum Genet 120:759-778. (IF: 3,974)
• Kehrer-Sawatzki H, Cooper DN (2007b) Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons. Hum Mutat 28:99-130. (IF: 7,923)
• Kemkemer C, Kohn M, Kehrer-Sawatzki H, Minich P, Hogel J, Froenicke L, Hameister H (2006) Reconstruction of the ancestral ferungulate karyotype by electronic chromosome painting (E-painting). Chromosome Res 14:899-907. (IF: 3,007)
• Raedt TD, Stephens M, Heyns I, Brems H, Thijs D, Messiaen L, Stephens K, Lazaro C, Wimmer K, Kehrer-Sawatzki H, Vidaud D, Kluwe L, Marynen P, Legius E (2006) Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Nat Genet 38:1419-1423. (IF: 25,797)
• Goidts V, Cooper DN, Armengol L, Schempp W, Conroy J, Estivill X, Nowak N, Hameister H, Kehrer-Sawatzki H (2006) Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome. Hum Genet 120:270-284. (IF: 3,974)
• Kohn M, Hogel J, Vogel W, Minich P, Kehrer-Sawatzki H, Graves JA, Hameister H (2006) Reconstruction of a 450-My-old ancestral vertebrate protokaryotype. Trends Genet 22:203-210. (IF: 12,047)
• Chocholska S, Rossier E, Barbi G, Kehrer-Sawatzki H (2006) Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers. Am J Med Genet A 140:604-610. (IF: 1,913)
• Goidts V, Armengol L, Schempp W, Conroy J, Nowak N, Muller S, Cooper DN, Estivill X, Enard W, Szamalek JM, Hameister H, Kehrer-Sawatzki H (2006) Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization. Hum Genet 119:185-198. (IF: 3,974)
• Szamalek JM, Goidts V, Cooper DN, Hameister H, Kehrer-Sawatzki H (2006a) Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes. Hum Genet 120:126-138. (IF: 3,974)
• Szamalek JM, Cooper DN, Schempp W, Minich P, Kohn M, Hoegel J, Goidts V, Hameister H, Kehrer-Sawatzki H (2006b) Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees. Hum Genet 119:103-112. (IF: 3,974)
• Szamalek JM, Goidts V, Searle JB, Cooper DN, Hameister H, Kehrer-Sawatzki H (2006c) The chimpanzee-specific pericentric inversions that distinguish humans and chimpanzees have identical breakpoints in Pan troglodytes and Pan paniscus. Genomics 87:39-45. (IF: 3,181)