Publications

Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Wei S, Wheeler DA, Wright MW, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clendenning J, Clerc-Blankenburg KP, Chen R, Chen Z, Davis C, Delgado O, Dinh HH, Dong W, Draper H, Ernst S, Fu G, Gonzalez-Garay ML, Garcia DK, Gillett W, Gu J, Hao B, Haugen E, Havlak P, He X, Hennig S, Hu S, Huang W, Jackson LR, Jacob LS, Kelly SH, Kube M, Levy R, Li Z, Liu B, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Palmeiri A, Pasternak S, Perez LM, Phelps KA, Plopper FJ, Qiang B, Raymond C, Rodriguez R, Saenphimmachak C, Santibanez J, Shen H, Shen Y, Subramanian S, Tabor PE, Verduzco D, Waldron L, Wang J, Wang J, Wang Q, Williams GA, Wong GK, Yao Z, Zhang J, Zhang X, Zhao G, Zhou J, Zhou Y, Nelson D, Lehrach H, Reinhardt R, Naylor SL, Yang H, Olson M, Weinstock G, Gibbs RA.(2006) The DNA sequence, annotation and analysis of human chromosome 3. Nature 440, 1194-1198.

Hoefele J, Sudbrak R, Reinhardt R, Lehrack S, Hennig S, Imm A, Muerb U, Utsch B, Attanasio M, O'toole JF, Otto E, Hildebrandt F. (2005) Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. Hum Mutat. 25: 411. more

Ross MT, Grafham DV, Coffey AJ, Scherer S , McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD,M. Ansari-Lari A, Aradhya S, Ashwell RIS, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, DeShazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glöckner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Müller, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O?Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d?Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q2, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LD, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J & Bentley DR (2005) The DNA sequence of the human X chromosome. Nature 434, 325-337. more

Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F. (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet. 37:282-8. more

Elke Hammer, Kerstin Kutsche, Friedrich Haag, Kurt Ullrich, Ralf Sudbrak, Rolf Peter Willig, Thomas Braulke and Bernd Kübler. CASE REPORT: Mono-allelic expression of the IGF I receptor does not affect IGF responses in human fibroblasts. European Journal of Endocrinology 2004 151: 521-529. more

International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature. 2004 431: 931-945. more

Watanabe H, Fujiyama A, Hattori M, Taylor TD, Toyoda A, Kuroki Y, Noguchi H, BenKahla A, Lehrach H, Sudbrak R. Kube M, Taenzer S, Galgoczy P, Platzer M, Scharfe M, Nordsiek G, Blöcker H, Hellmann I, Khaitovich P, Pääbo S, Reinhardt R, Zheng H-J, Zhang X-L, Zhu G-F, Wang B-F, Fu G, Ren S-X, Zhao G-P, Chen Z, Lee Y-S, Cheong J-E, Choi S-H, Wu K-M, Liu T-T, Hsiao K-J, Tsai S-F, Kim C-G, Oota S, Kitano T, Kohara Y, Saitou N, Park H-S, Wang S-Y, Yaspo M-L & Sakaki Y. (2004) DNA sequence and comparative analysis of chimpanzee chromosome 22. Nature 429: 382-388. more

P. Hurt, L. Walter, R. Sudbrak, S. Klages, I. Müller, T. Shiina, H. Inoko, H. Lehrach, E. Günther, R. Reinhardt and H. Himmelbauer. The genomic sequence and comparative analysis of the rat major histocompatibility complex. Genome Res 14 (2004) 631-639. more

Tsend-Ayush E,, Grützner F, Yue Y, Grossmann B, Hänsel U, Sudbrak R, Haaf T. (2004). Plasticity of human chromosome 3 during primate evolution. Genomics 83: 193-202. more

*Sakaki Y, Watanabe H, Taylor T, Hattori M, Fujiyama A, Toyoda A, Kuroki Y, Itoh T, Saitou N, Oota S, Kim CG, Kitano T, Lehrach H, Yaspo ML, Sudbrak R, Kahla A, Reinhardt R, Kube M, Platzer M, Taenzer S, Galgoczy P, Kel A, Bloecker H, Scharfe M, Nordsiek G, Hellmann I, Khaitovich P, Paabo S, Chen Z, Wang SY, Ren SX, Zhang XL, Zheng HJ, Zhu GF, Wang BF, Zhao GP, Tsai SF, Wu K, Liu TT, Hsiao KJ, Park HS, Lee YS, Cheong JE, Choi SH; Chimpanzee Chromosome 22 Sequencing Consortium (2003). *Human versus chimpanzee chromosome-wide sequence comparison and its evolutionary implication. Cold Spring Harb Symp Quant Biol. 68: 455-460.

Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nature Genetics 34: 455.459. more

Sudbrak R, Reinhardt R, Hennig S, Lehrach H, Gunther E, Walter L. (2003) Comparative and evolutionary analysis of the rhesus macaque extended MHC class II region. Immunogenetics 54:699-704. more

Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, R, Sudbrak R, Hennies HC, Nurnberg P, Hildebrandt F. (2002) A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet 71: 1161-1167. more

Schickel J, Stahn K, Zimmer KP, Sudbrak R, Storm TM, Durst M, Kiehntopf M, Deufel T. (2002) Gene for integrin-associated protein (IAP, CD47): physical mapping, genomic structure, and expression studies in skeletal muscle. Biochem Cell Biol 80: 169-176. more

Walter L, Hurt P, Himmelbauer H, Sudbrak R, Gunther E. (2002) Physical mapping of the major histocompatibility complex class II and class III regions of the rat. Immunogenetics 54: 268-275. more

Olbrich H, Häffner K, Kispert A, Völkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Eddie M.K. Chung EMK, Hildebrandt F, Sudbrak R & Omran H (2002) Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nature Genetics 30, 143-144. more

Dobson-Stone C, Fairclough R, Dunne E, Brown J, Dissanayake M, Munro CS, Strachan T, Burge S, Sudbrak R, Monaco AP, Hovnanian A. (2002) Hailey-Hailey disease: Molecular and clinical characterisation of novel mutations in the ATP2C1 gene. J Invest Dermatol 118: 338-343. more

Birkenhäger R, Otto E, Schürmann MJ, Vollmer M, Ruf E-M, Maier-Lutz I, Beekmann F, Fekete A, Konrad M, Jeck N, Feldmann D, Milford D,Antignac C, Sudbrak R, Kispert A, Hildebrandt F. (2001) Bartter syndrome with sensorineural deafness and kidney failure (BSND) is caused by a novel gene expressed in inner ear development Nature Genetics 29, 310-314. more

Nolte, D, Ramser J, Niemann S, Lehrach H, Sudbrak R, Mueller U. (2001) ACRC codes for a novel nuclear protein with unusual acidic repeat tract and maps to DYT3 (dystonia parkinsonism) critical interval in Xq13.1 Neurogenetics 3, 207-213. more

Omran, H., K. Haffner, S. Burth, C. Fernandez, B. Fargier, A. Villaquiran, H.G. Nothwang, S. Schnittger, H. Lehrach, D. Woo, M. Brandis, R. Sudbrak and F. Hildebrandt: Human Adolescent Nephronophthisis: Gene Locus Synteny with Polycystic Kidney Disease in Pcy Mice. J Am Soc Nephrol 12, 107-113 (2001). more

The International Human Genome Mapping Consortium Initial sequencing and analysis of the human genome. Nature. 2001 Feb 15;409(6822):860-921. more

The International Human Genome Mapping Consortium A physical map of the human genome. Nature. 2001 Feb 15;409(6822):934-41. more

Sudbrak R, Wieczorek G, Nuber UA, Mann W, Kirchner R, Erdogan F, Brown CJ, Wohrle D, Sterk P, Kalscheuer VM, Berger W, Lehrach H, Ropers HH. X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications. Hum Mol Genet. 2001 Jan 1;10(1):77-83. more

Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, Healy E, Dissanayake M, Larregue M, Perrussel M, Lehrach H, Munro CS, Strachan T, Burge S, Hovnanian A, Monaco AP. (2000) Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. Hum Mol Genet, 9: 1131-40. more

Zemni R, Bienvenu T, Vinet MC, Sefiani A, Carrie A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, Portes Vd, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, Bokhoven Hv, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C, et al. A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat Genet. 2000 Feb;24(2):167-70. more

Hattori M., A. Fujiyama, T.D. Taylor, H. Watanabe, T. Yada, H.-S. Park, A. Toyoda, K. Ishii, Y. Totoki, D.-K. Choi, E. Soeda, M. Ohki, T. Takagi, Y. Sakaki; S. Taudien, K. Blechschmidt, A. Polley, U. Menzel, J. Delabar, K. Kumpf, R. Lehmann, D. Patterson, K. Reichwald, A. Rump, M. Schillhabel, A. Schudy, W. Zimmermann, A. Rosenthal; J. Kudoh, K. Shibuya, K. Kawasaki, S. Asakawa, A. Shintani, T. Sasaki, K. Nagamine, S. Mitsuyama, S.E. Antonarakis, S. Minoshima, N. Shimizu; G. Nordsiek, K. Hornischer, P. Brandt, M. Scharfe, O. Schön, A. Desario, J. Reichelt, G. Kauer, H. Blöcker; J. Ramser, A. Beck, S. Klages, S. Hennig, L. Riesselmann, E. Dagand, S. Wehrmeyer, K. Borzym, K. Gardiner, D. Nizetic, F. Francis, H. Lehrach, R. Reinhardt and M.-L. Yaspo. (2,000). The DNA sequence of human chromosome 21. Nature 405: 311-319. more

McDonell N, Ramser J, Francis F, Vinet MC, Rider S, Sudbrak R, Riesselman L, Yaspo ML, Reinhardt R, Monaco AP, Ross F, Kahn A, Kearney L, Buckle V, Chelly J. (2000) Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia. Genomics; 64: 221-229. more

Hoff C, Seranski P, Mollenhauer J, Korn B, Detzel T, Reinhardt R, Ramser J, Poustka A (2000) Physical and transcriptional mapping of the 17p13.3 region that is frequently deleted in human cancer. Genomics 70: 26-33. more

Slavov, D., Hattori, M., Sakaki, Y., Rosenthal, A., Shimizu, N., Minoshima, S., Kudoh, J., Yaspo, M-L, Ramser, J., Reinhardt, R., Reimer, C., Clancy, K., Rynditch, A., Gardiner, K. (2000) Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21. Gene 247: 215-232. more

Jakubiczka S, Mitulla B, Liehr T, Arnemann J, Lehrach H, Sudbrak R, Stumm M, Wieacker PF, Bettecken T. Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing.
Prenat Diagn. 2000 Oct;20(10):842-6. more

Heiko Müller: Realisierung eines einheitlichen Zugriffs auf molekularbiologische Genomkarten unter Verwendung der Common Object Request Broker Architecture (CORBA), Master Thesis. (Postscript.)

Ulf Leser, Hugues Roest Crollius, Hans Lehrach, Ralf Sudbrak: IXDB, an X Chromosome Integrated Database (update), Nucleic Acids Research, 27(1), pp. 123-127. (Abstract, reprint available on request.)

Robert Wagner, Ulf Leser, Hans Lehrach, Ralf Sudbrak: A Comprehensive Database for the Human X Chromosome, Objects in Bioinformatics '98, August 1998, Hinxton, U.K. (Poster.)

Ulf Leser, Hans Lehrach, Hugues Roest Crollius: Issues in Developing Integrated Genomic Databases and Application to the Human X Chromosome, Bioinformatics, 14(7), pp. 583-590. (Abstract, reprint available on request.)

Ulf Leser, Andrei Grigoriev, Hans Lehrach, Hugues Roest Crollius: IXDB, an X Chromosome Integrated Database, Nucleic Acids Research, 26(1), pp. 108-111. (Abstract, reprint available on request.)

Ulf Leser, Hans Lehrach, Hugues Roest Crollius: IXDB: An Integrated Database for Genomic Data of the Human X Chromosome.Abstract at the 2nd German Conference on Bioinformatics, September 1997, Munich, Germany. (Abstract, poster.)

Ulf Leser, Robert Wagner: A guided tour through IXDB, European X Transcript consorium Meeting, Berlin, Sep. 1997. (Presentation.)

Ulf Leser, Hans Lehrach, Hugues Roest Crollius: IXDB: Integration of genomic data for physical mapping of the human X chromosome, 5th International Conferences on Intelligent Systems for Molecular Biology, June 1997, Halkidiki, Greece. (Abstract, poster (postscript).)

Roest Crollius, H., Leser, U., Lehrach, H. IXDB: An integrated database for the human X chromosome.
Abstract for the 7th X chromosome workshop, Hinxton, U.K., 1996. (Abstract, HTML demonstration.)

Kumlien, J.,Grigoriev, A., Roest Crollius, H., Ross, M., Goodfellow, P.N., Lehrach, H., (1996):
A radiation hybrid map spanning the entire human X-chromosome integrating YACs, genes, and STS markers. Mammalian Genome 7 (10), 758-766 more

Roest Crollius, H., Ross, M.T., Grigoriev A., Knights, J.C., Holloway, E., Misfud, J., Li, K., Playford, M., Gregory, S.J., Humphray,, S.J., Coffey, A.J., See, C.G., Marsh, S., R. Vatcheva, Kumlien, J., Labella, T., Lam, V., Rak, K.H., Todd, K. Mott, R., Graeser, D., Rappold, G., Zehetner, Z., Poustka, A., Bentley, D.R., Monaco, A.P. and Lehrach, H. (1996): An Integrated YAC Map of the human X chromosome. Genome Research 6 (10), 943-955 more