Publikationen von Ralf Sudbrak

Thomas Willems, Melissa Gymrek, Gareth Highnam, Consortium The 1000 Genomes Project, Ralf Herwig, Hans Lehrach, Ralf Sudbrak, Bernd Timmermann, David Mittelman, and Yaniv Erlich, "The landscape of human STR variation," Genome Research 24 (11), 1894-1904 (2014).

V. Colonna, Q. Ayub, Y. Chen, L. Pagani, P. Luisi, M. Pybus, E. Garrison, Y. Xue, C. Tyler-Smith, Consortium 1000 Genomes Project, R. Sudbrak, M. Albrecht, V. Amstislavskiy, T. A. Borodina, A. Dahl, A. Davydov, R. Herwig, P. Marquardt, F. Mertes, W. Nietfeld, D. Parkhomchuk, A. V. Soldatov, B. Timmermann, M. Tolzmann, H. Lehrach, and M. L. Yaspo, "Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences," Genome Biology: Biology for the Post-Genomic Era 15 (6), R88 (2014).

E. Khurana, Y. Fu, V. Colonna, X. J. Mu, H. M. Kang, T. Lappalainen, A. Sboner, L. Lochovsky, J. Chen, A. Harmanci, J. Das, A. Abyzov, S. Balasubramanian, K. Beal, D. Chakravarty, D. Challis, Y. Chen, D. Clarke, L. Clarke, F. Cunningham, U. S. Evani, P. Flicek, R. Fragoza, E. Garrison, R. Gibbs, Z. H. Gumus, J. Herrero, N. Kitabayashi, Y. Kong, K. Lage, V. Liluashvili, S. M. Lipkin, D. G. MacArthur, G. Marth, D. Muzny, T. H. Pers, G. R. Ritchie, J. A. Rosenfeld, C. Sisu, X. Wei, M. Wilson, Y. Xue, F. Yu, Consortium 1000 Genomes Project, H. Lehrach, R. Sudbrak, M. W. Albrecht, V. Amstislavskiy, T. A. Borodina, M. Lienhard, F. Mertes, M. Sultan, B. Timmermann, M. L. Yaspo, E. T. Dermitzakis, H. Yu, M. A. Rubin, C. Tyler-Smith, and M. Gerstein, "Integrative annotation of variants from 1092 humans: application to cancer genomics," Science 342 (6154), 1235587-1235587 (2013).

Valeria Zazzu, Babette Regierer, Alexander Kühn, Ralf Sudbrak, and Hans Lehrach, "IT Future of Medicine: from molecular analysis to clinical diagnosis and improved treatment," New Biotechnology 30 (4), 362-365 (2013).

M. Barann, D. Esser, U. C. Klostermeier, T. Lappalainen, A. Luzius, J. W. P. Kuiper, O. Ammerpohl, I. Vater, R. Siebert, V. Amstislavskiy, R. Sudbrak, H. Lehrach, S. Schreiber, and P. Rosenstiel, "Janus-a comprehensive tool investigating the two faces of transcription," Bioinformatics 29 (13), 1600-1606 (2013).

T. Lappalainen, M. Sammeth, M. R. Friedlander, P. A. C. 't Hoen, J. Monlong, M. A. Rivas, M. Gonzalez-Porta, N. Kurbatova, T. Griebel, P. G. Ferreira, M. Barann, T. Wieland, L. Greger, M. van Iterson, J. Almlof, P. Ribeca, I. Pulyakhina, D. Esser, T. Giger, A. Tikhonov, M. Sultan, G. Bertier, D. G. MacArthur, M. Lek, E. Lizano, H. P. J. Buermans, I. Padioleau, T. Schwarzmayr, O. Karlberg, H. Ongen, H. Kilpinen, S. Beltran, M. Gut, K. Kahlem, V. Amstislavskiy, O. Stegle, M. Pirinen, S. B. Montgomery, P. Donnelly, M. I. McCarthy, P. Flicek, T. M. Strom, H. Lehrach, S. Schreiber, Ralf Sudbrak, A. Carracedo, S. E. Antonarakis, R. Haesler, A. C. Syvaenen, G. J. Van Ommen, A. Brazma, T. Meitinger, P. Rosenstiel, R. Guigo, I. G. Gut, X. Estivill, E. T. Dermitzakis, and Geuvadis Consortium, "Transcriptome and genome sequencing uncovers functional variation in humans," Nature 501 (7468), 506-511 (2013).

Goncalo R. Abecasis, Adam Auton, Lisa D. Brooks, Mark A. DePristo, Richard M. Durbin, Robert E. Handsaker, Hyun Min Kang, Gabor T. Marth, Gil A. McVean, The 1000 Genomes Project Consortium, Ralf Sudbrak, Marcus Albrecht, Vyacheslav Amstislavskiy, Tatiana A. Borodina, Alexey Davydov, Ralf Herwig, Matthias Lienhard, Florian Mertes, Marc Sultan, Bernd Timmermann, Marie L. Yaspo, and Hans Lehrach, "An integrated map of genetic variation from 1,092 human genomes," Nature 491 (7422), 56-65 (2012).

The 1000 Genomes Project Consortium, Ralf Sudbrak, Marcus Albrecht, Vyacheslav Amstislavskiy, Tatiana A. Borodina, Andreas Dahl, Alexey Davydov, Ralf Herwig, Peter Marquardt, Florian Mertes, Wilfried Nietfeld, Dmitri Parkhomchuk, Aleksey Soldatov, Bernd Timmermann, Marius Tolzmann, and Hans Lehrach, "The 1000 Genomes Project: data management and community access," Nature methods 9 (5), 459-462 (2012).

D. G. MacArthur, S. Balasubramanian, A. Frankish, Consortium 1000 Genomes Project, R. Sudbrak, M. W. Albrecht , V. Amstislavskiy, T. A. Borodina, Andreas Dahl, A. Davydov, R. Herwig, P. Marquardt, F. Mertes, W. Nietfeld, D. Parkhomchuk, A. Soldatov, B. Timmermann, M. Tolzmann, and H. Lehrach, "A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes," Science 335 (6070), 823-828 (2012).

Nada Hornef, Heike Olbrich, Judit Horvath, Maimoona A. Zariwala, Manfred Fliegauf, Niki Tomas Loges, Johannes Wildhaber, Peadar G. Noone, Marcus Kennedy, Stylianos E. Antonarakis, Jean-Louis Blouin, Lucia Bartoloni, Thomas Nüsslein, Peter Ahrens, Matthias Griese, Heiner Kuhl, Ralf Sudbrak, Michael R. Knowles, Richard Reinhardt, and Heymut Omran, "DNAH5 Mutations are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects," American Journal of Respiratory and Critical Care Medicine: an Official Journal of the American Thoracic Society, Medical Section of the Lung Association 174 (2), 120-126 (2006).

Nada Hornef, Heike Olbrich, Judit Horvath, Maimoona A. Zariwala, Manfred Fliegauf, Niki Tomas Loges, Johannes Wildhaber, Peadar G. Noone, Marcus Kennedy, Stylianos E. Antonarakis, Jean-Louis Blouin, Lucia Bartoloni, Thomas Nüsslein, Peter Ahrens, Matthias Griese, Heiner Kuhl, Ralf Sudbrak, Michael R. Knowles, Richard Reinhardt, and Heymut Omran, "DNAH5 Mutations are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects," American Journal of Respiratory and Critical Care Medicine: an Official Journal of the American Thoracic Society, Medical Section of the Lung Association 174 (2), 120-126 (2006).

Donna M. Muzny, Steven E. Scherer, Rajinder Kaul, Jing Wang, Jun Yu, Ralf Sudbrak, Christian J. Buhay, Rui Chen, Andrew Cree, Yan Ding, Shannon Dugan-Rocha, Rachel Gill, Preethi Gunaratne, R. Alan Harris, Alicia C. Hawes, Judith Hernandez, Anne V. Hodgson, Jennifer Hume, Andrew Jackson, Ziad Mohid Khan, Christie Kovar-Smith, Lora R. Lewis, Ryan J. Lozado, Michael L. Metzker, Aleksandar Milosavljevic, George R. Miner, Margaret B. Morgan, Lynne V. Nazareth, Graham Scott, Erica Sodergren, Xing-Zhi Song, David Steffen, Sharon Wei, David A. Wheeler, Mathew W. Wright, Kim C. Worley, Ye Yuan, Zhengdong Zhang, Charles Q. Adams, Ali Ansari-Lari, Mulu Ayele, Mary J. Brown, Guan Chen, Zhijian Chen, James Clendenning, Kerstin P. Clerc-Blankenburg, Runsheng Chen, Zhu Chen, Clay Davis, Oliver Delgado, Huyen H. Dinh, Wei Dong, Heather Draper, Stephen Ernst, Gang Fu, Manuel L. Gonzalez-Garay, Dawn K Garcia, Will Gillett, Jun Gu, Bailin Hao, Eric Haugen, Paul Havlak, Xin He, Steffen Hennig, Songnian Hu, Wei Huang, Laronda R. J ackson, Leni S. Jacob, Susan H. Kelly, Michael Kube, Ruth Levy, Zhangwan Li, Bin Liu, Jing Liu, Wen Liu, Manjula Maheshwari, Bao-Viet Nguyen, Geoffrey O. Okwuonu, Anthony Palmeiri, Shiran Pasternak, Lesette M. Perez, Karen A. Phelps, Farah J. H. Plopper, Boqin Qiang, Christopher Raymond, Ruben Rodriguez, Channakhone Saenphimmachak, Jireh Santibanez, Hua Shen, Yan Shen, Sandhya Subramanian, Paul E. Tabor, Daniel Verduzco, Lenee Waldron, Jian Wang, Jun Wang, Qiaoyan Wang, Gabrielle A. Williams, Gane K.-S. Wong, Zhijian Yao, JingKun Zhang, Xiuqing Zhang, Guoping Zhao, Jianling Zhou, Yang Zhou, David Nelson, Hans Lehrach, Richard Reinhardt, Susan L. Naylor, Huanming Yang, Maynard Olson, George Weinstock, and Richard A. Gibbs (ed), "The DNA sequence, annotation and analysis of human chromosome 3," Nature 440 (7088), 1194-1198 (2006).

Donna M. Muzny, Steven E. Scherer, Rajinder Kaul, Jing Wang, Jun Yu, Ralf Sudbrak, Christian J. Buhay, Rui Chen, Andrew Cree, Yan Ding, Shannon Dugan-Rocha, Rachel Gill, Preethi Gunaratne, R. Alan Harris, Alicia C. Hawes, Judith Hernandez, Anne V. Hodgson, Jennifer Hume, Andrew Jackson, Ziad Mohid Khan, Christie Kovar-Smith, Lora R. Lewis, Ryan J. Lozado, Michael L. Metzker, Aleksandar Milosavljevic, George R. Miner, Margaret B. Morgan, Lynne V. Nazareth, Graham Scott, Erica Sodergren, Xing-Zhi Song, David Steffen, Sharon Wei, David A. Wheeler, Mathew W. Wright, Kim C. Worley, Ye Yuan, Zhengdong Zhang, Charles Q. Adams, Ali Ansari-Lari, Mulu Ayele, Mary J. Brown, Guan Chen, Zhijian Chen, James Clendenning, Kerstin P. Clerc-Blankenburg, Runsheng Chen, Zhu Chen, Clay Davis, Oliver Delgado, Huyen H. Dinh, Wei Dong, Heather Draper, Stephen Ernst, Gang Fu, Manuel L. Gonzalez-Garay, Dawn K Garcia, Will Gillett, Jun Gu, Bailin Hao, Eric Haugen, Paul Havlak, Xin He, Steffen Hennig, Songnian Hu, Wei Huang, Laronda R. J ackson, Leni S. Jacob, Susan H. Kelly, Michael Kube, Ruth Levy, Zhangwan Li, Bin Liu, Jing Liu, Wen Liu, Manjula Maheshwari, Bao-Viet Nguyen, Geoffrey O. Okwuonu, Anthony Palmeiri, Shiran Pasternak, Lesette M. Perez, Karen A. Phelps, Farah J. H. Plopper, Boqin Qiang, Christopher Raymond, Ruben Rodriguez, Channakhone Saenphimmachak, Jireh Santibanez, Hua Shen, Yan Shen, Sandhya Subramanian, Paul E. Tabor, Daniel Verduzco, Lenee Waldron, Jian Wang, Jun Wang, Qiaoyan Wang, Gabrielle A. Williams, Gane K.-S. Wong, Zhijian Yao, JingKun Zhang, Xiuqing Zhang, Guoping Zhao, Jianling Zhou, Yang Zhou, David Nelson, Hans Lehrach, Richard Reinhardt, Susan L. Naylor, Huanming Yang, Maynard Olson, George Weinstock, and Richard A. Gibbs (ed), "The DNA sequence, annotation and analysis of human chromosome 3," Nature 440 (7088), 1194-1198 (2006).

Donna M. Muzny, Steven E. Scherer, Rajinder Kaul, Jing Wang, Jun Yu, Ralf Sudbrak, Christian J. Buhay, Rui Chen, Andrew Cree, Yan Ding, Shannon Dugan-Rocha, Rachel Gill, Preethi Gunaratne, R. Alan Harris, Alicia C. Hawes, Judith Hernandez, Anne V. Hodgson, Jennifer Hume, Andrew Jackson, Ziad Mohid Khan, Christie Kovar-Smith, Lora R. Lewis, Ryan J. Lozado, Michael L. Metzker, Aleksandar Milosavljevic, George R. Miner, Margaret B. Morgan, Lynne V. Nazareth, Graham Scott, Erica Sodergren, Xing-Zhi Song, David Steffen, Sharon Wei, David A. Wheeler, Mathew W. Wright, Kim C. Worley, Ye Yuan, Zhengdong Zhang, Charles Q. Adams, Ali Ansari-Lari, Mulu Ayele, Mary J. Brown, Guan Chen, Zhijian Chen, James Clendenning, Kerstin P. Clerc-Blankenburg, Runsheng Chen, Zhu Chen, Clay Davis, Oliver Delgado, Huyen H. Dinh, Wei Dong, Heather Draper, Stephen Ernst, Gang Fu, Manuel L. Gonzalez-Garay, Dawn K Garcia, Will Gillett, Jun Gu, Bailin Hao, Eric Haugen, Paul Havlak, Xin He, Steffen Hennig, Songnian Hu, Wei Huang, Laronda R. J ackson, Leni S. Jacob, Susan H. Kelly, Michael Kube, Ruth Levy, Zhangwan Li, Bin Liu, Jing Liu, Wen Liu, Manjula Maheshwari, Bao-Viet Nguyen, Geoffrey O. Okwuonu, Anthony Palmeiri, Shiran Pasternak, Lesette M. Perez, Karen A. Phelps, Farah J. H. Plopper, Boqin Qiang, Christopher Raymond, Ruben Rodriguez, Channakhone Saenphimmachak, Jireh Santibanez, Hua Shen, Yan Shen, Sandhya Subramanian, Paul E. Tabor, Daniel Verduzco, Lenee Waldron, Jian Wang, Jun Wang, Qiaoyan Wang, Gabrielle A. Williams, Gane K.-S. Wong, Zhijian Yao, JingKun Zhang, Xiuqing Zhang, Guoping Zhao, Jianling Zhou, Yang Zhou, David Nelson, Hans Lehrach, Richard Reinhardt, Susan L. Naylor, Huanming Yang, Maynard Olson, George Weinstock, and Richard A. Gibbs (ed), "The DNA sequence, annotation and analysis of human chromosome 3," Nature 440 (7088), 1194-1198 (2006).

Judit Horváth, Manfred Fliegauf, Heike Olbrich, Andreas Kispert, Stephen M. King, Hannah Mitchison, Maimoona A. Zariwala, Michael R. Knowles, Ralf Sudbrak, György Fekete, Juergen Neesen, Richard Reinhardt, and Heymut Omran, "Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients," American Journal of Respiratory Cell and Molecular Biology 33 (1), 41-47 (2005).

Judit Horváth, Manfred Fliegauf, Heike Olbrich, Andreas Kispert, Stephen M. King, Hannah Mitchison, Maimoona A. Zariwala, Michael R. Knowles, Ralf Sudbrak, György Fekete, Juergen Neesen, Richard Reinhardt, and Heymut Omran, "Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients," American Journal of Respiratory Cell and Molecular Biology 33 (1), 41-47 (2005).

Julia Hoefele, Ralf Sudbrak, Richard Reinhardt, Silvia Lehrack, Steffen Hennig, Anita Imm, Ulla Muerb, Boris Utsch, Massimo Attanasio, John F. O'Toole, Edgar Otto, and Friedhelm Hildebrandt, "Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis," Human Mutation 25 (4), 411-411 (2005).

Julia Hoefele, Ralf Sudbrak, Richard Reinhardt, Silvia Lehrack, Steffen Hennig, Anita Imm, Ulla Muerb, Boris Utsch, Massimo Attanasio, John F. O'Toole, Edgar Otto, and Friedhelm Hildebrandt, "Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis," Human Mutation 25 (4), 411-411 (2005).

Edgar A Otto, Bart Loeys, Hemant Khanna, Jan Hellemans, Ralf Sudbrak, Shuling Fan, Ulla Muerb, John F O'Toole, Juliana Helou, Massimo Attanasio, Boris Utsch, John A Sayer, Concepcion Lillo, David Jimeno, Paul Coucke, Anne De Paepe, Richard Reinhard, Sven Klages, Motoyuki Tsuda, Isao Kawakami, Takehiro Kusakabe, Heymut Omran, Anita Imm, Melissa Tippens, Pamela A Raymond, Jo Hill, Phil Beales, Shirley He, Andreas Kispert, Benjamin Margolis, David S. Williams, Anand Swaroop, and Friedhelm Hildebrandt, "Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin," Nature Genetics 37 (3), 282-288 (2005).

Edgar A Otto, Bart Loeys, Hemant Khanna, Jan Hellemans, Ralf Sudbrak, Shuling Fan, Ulla Muerb, John F O'Toole, Juliana Helou, Massimo Attanasio, Boris Utsch, John A Sayer, Concepcion Lillo, David Jimeno, Paul Coucke, Anne De Paepe, Richard Reinhard, Sven Klages, Motoyuki Tsuda, Isao Kawakami, Takehiro Kusakabe, Heymut Omran, Anita Imm, Melissa Tippens, Pamela A Raymond, Jo Hill, Phil Beales, Shirley He, Andreas Kispert, Benjamin Margolis, David S. Williams, Anand Swaroop, and Friedhelm Hildebrandt, "Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin," Nature Genetics 37 (3), 282-288 (2005).