Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Marc Pauper"'
Autor:
Stavroula Kanoni, Sarah E. Graham, Yuxuan Wang, Ida Surakka, Shweta Ramdas, Xiang Zhu, Shoa L. Clarke, Konain Fatima Bhatti, Sailaja Vedantam, Thomas W. Winkler, Adam E. Locke, Eirini Marouli, Greg J. M. Zajac, Kuan-Han H. Wu, Ioanna Ntalla, Qin Hui, Derek Klarin, Austin T. Hilliard, Zeyuan Wang, Chao Xue, Gudmar Thorleifsson, Anna Helgadottir, Daniel F. Gudbjartsson, Hilma Holm, Isleifur Olafsson, Mi Yeong Hwang, Sohee Han, Masato Akiyama, Saori Sakaue, Chikashi Terao, Masahiro Kanai, Wei Zhou, Ben M. Brumpton, Humaira Rasheed, Aki S. Havulinna, Yogasudha Veturi, Jennifer Allen Pacheco, Elisabeth A. Rosenthal, Todd Lingren, QiPing Feng, Iftikhar J. Kullo, Akira Narita, Jun Takayama, Hilary C. Martin, Karen A. Hunt, Bhavi Trivedi, Jeffrey Haessler, Franco Giulianini, Yuki Bradford, Jason E. Miller, Archie Campbell, Kuang Lin, Iona Y. Millwood, Asif Rasheed, George Hindy, Jessica D. Faul, Wei Zhao, David R. Weir, Constance Turman, Hongyan Huang, Mariaelisa Graff, Ananyo Choudhury, Dhriti Sengupta, Anubha Mahajan, Michael R. Brown, Weihua Zhang, Ketian Yu, Ellen M. Schmidt, Anita Pandit, Stefan Gustafsson, Xianyong Yin, Jian’an Luan, Jing-Hua Zhao, Fumihiko Matsuda, Hye-Mi Jang, Kyungheon Yoon, Carolina Medina-Gomez, Achilleas Pitsillides, Jouke Jan Hottenga, Andrew R. Wood, Yingji Ji, Zishan Gao, Simon Haworth, Noha A. Yousri, Ruth E. Mitchell, Jin Fang Chai, Mette Aadahl, Anne A. Bjerregaard, Jie Yao, Ani Manichaikul, Chii-Min Hwu, Yi-Jen Hung, Helen R. Warren, Julia Ramirez, Jette Bork-Jensen, Line L. Kårhus, Anuj Goel, Maria Sabater-Lleal, Raymond Noordam, Pala Mauro, Floris Matteo, Aaron F. McDaid, Pedro Marques-Vidal, Matthias Wielscher, Stella Trompet, Naveed Sattar, Line T. Møllehave, Matthias Munz, Lingyao Zeng, Jianfeng Huang, Bin Yang, Alaitz Poveda, Azra Kurbasic, Claudia Lamina, Lukas Forer, Markus Scholz, Tessel E. Galesloot, Jonathan P. Bradfield, Sanni E. Ruotsalainen, EWarwick Daw, Joseph M. Zmuda, Jonathan S. Mitchell, Christian Fuchsberger, Henry Christensen, Jennifer A. Brody, Miguel Vazquez-Moreno, Mary F. Feitosa, Mary K. Wojczynski, Zhe Wang, Michael H. Preuss, Massimo Mangino, Paraskevi Christofidou, Niek Verweij, Jan W. Benjamins, Jorgen Engmann, Noah L. Tsao, Anurag Verma, Roderick C. Slieker, Ken Sin Lo, Nuno R. Zilhao, Phuong Le, Marcus E. Kleber, Graciela E. Delgado, Shaofeng Huo, Daisuke D. Ikeda, Hiroyuki Iha, Jian Yang, Jun Liu, Ayşe Demirkan, Hampton L. Leonard, Jonathan Marten, Mirjam Frank, Börge Schmidt, Laura J. Smyth, Marisa Cañadas-Garre, Chaolong Wang, Masahiro Nakatochi, Andrew Wong, Nina Hutri-Kähönen, Xueling Sim, Rui Xia, Alicia Huerta-Chagoya, Juan Carlos Fernandez-Lopez, Valeriya Lyssenko, Suraj S. Nongmaithem, Swati Bayyana, Heather M. Stringham, Marguerite R. Irvin, Christopher Oldmeadow, Han-Na Kim, Seungho Ryu, Paul R. H. J. Timmers, Liubov Arbeeva, Rajkumar Dorajoo, Leslie A. Lange, Gauri Prasad, Laura Lorés-Motta, Marc Pauper, Jirong Long, Xiaohui Li, Elizabeth Theusch, Fumihiko Takeuchi, Cassandra N. Spracklen, Anu Loukola, Sailalitha Bollepalli, Sophie C. Warner, Ya Xing Wang, Wen B. Wei, Teresa Nutile, Daniela Ruggiero, Yun Ju Sung, Shufeng Chen, Fangchao Liu, Jingyun Yang, Katherine A. Kentistou, Bernhard Banas, Giuseppe Giovanni Nardone, Karina Meidtner, Lawrence F. Bielak, Jennifer A. Smith, Prashantha Hebbar, Aliki-Eleni Farmaki, Edith Hofer, Maoxuan Lin, Maria Pina Concas, Simona Vaccargiu, Peter J. van der Most, Niina Pitkänen, Brian E. Cade, Sander W. van der Laan, Kumaraswamy Naidu Chitrala, Stefan Weiss, Amy R. Bentley, Ayo P. Doumatey, Adebowale A. Adeyemo, Jong Young Lee, Eva R. B. Petersen, Aneta A. Nielsen, Hyeok Sun Choi, Maria Nethander, Sandra Freitag-Wolf, Lorraine Southam, Nigel W. Rayner, Carol A. Wang, Shih-Yi Lin, Jun-Sing Wang, Christian Couture, Leo-Pekka Lyytikäinen, Kjell Nikus, Gabriel Cuellar-Partida, Henrik Vestergaard, Bertha Hidalgo, Olga Giannakopoulou, Qiuyin Cai, Morgan O. Obura, Jessica van Setten, Xiaoyin Li, Jingjing Liang, Hua Tang, Natalie Terzikhan, Jae Hun Shin, Rebecca D. Jackson, Alexander P. Reiner, Lisa Warsinger Martin, Zhengming Chen, Liming Li, Takahisa Kawaguchi, Joachim Thiery, Joshua C. Bis, Lenore J. Launer, Huaixing Li, Mike A. Nalls, Olli T. Raitakari, Sahoko Ichihara, Sarah H. Wild, Christopher P. Nelson, Harry Campbell, Susanne Jäger, Toru Nabika, Fahd Al-Mulla, Harri Niinikoski, Peter S. Braund, Ivana Kolcic, Peter Kovacs, Tota Giardoglou, Tomohiro Katsuya, Dominique de Kleijn, Gert J. de Borst, Eung Kweon Kim, Hieab H. H. Adams, M. Arfan Ikram, Xiaofeng Zhu, Folkert W. Asselbergs, Adriaan O. Kraaijeveld, Joline W. J. Beulens, Xiao-Ou Shu, Loukianos S. Rallidis, Oluf Pedersen, Torben Hansen, Paul Mitchell, Alex W. Hewitt, Mika Kähönen, Louis Pérusse, Claude Bouchard, Anke Tönjes, Yii-Der Ida Chen, Craig E. Pennell, Trevor A. Mori, Wolfgang Lieb, Andre Franke, Claes Ohlsson, Dan Mellström, Yoon Shin Cho, Hyejin Lee, Jian-Min Yuan, Woon-Puay Koh, Sang Youl Rhee, Jeong-Taek Woo, Iris M. Heid, Klaus J. Stark, Martina E. Zimmermann, Henry Völzke, Georg Homuth, Michele K. Evans, Alan B. Zonderman, Ozren Polasek, Gerard Pasterkamp, Imo E. Hoefer, Susan Redline, Katja Pahkala, Albertine J. Oldehinkel, Harold Snieder, Ginevra Biino, Reinhold Schmidt, Helena Schmidt, Stefania Bandinelli, George Dedoussis, Thangavel Alphonse Thanaraj, Sharon L. R. Kardia, Patricia A. Peyser, Norihiro Kato, Matthias B. Schulze, Giorgia Girotto, Carsten A. Böger, Bettina Jung, Peter K. Joshi, David A. Bennett, Philip L. De Jager, Xiangfeng Lu, Vasiliki Mamakou, Morris Brown, Mark J. Caulfield, Patricia B. Munroe, Xiuqing Guo, Marina Ciullo, Jost B. Jonas, Nilesh J. Samani, Jaakko Kaprio, Päivi Pajukanta, Teresa Tusié-Luna, Carlos A. Aguilar-Salinas, Linda S. Adair, Sonny Augustin Bechayda, H. Janaka de Silva, Ananda R. Wickremasinghe, Ronald M. Krauss, Jer-Yuarn Wu, Wei Zheng, Anneke Iden Hollander, Dwaipayan Bharadwaj, Adolfo Correa, James G. Wilson, Lars Lind, Chew-Kiat Heng, Amanda E. Nelson, Yvonne M. Golightly, James F. Wilson, Brenda Penninx, Hyung-Lae Kim, John Attia, Rodney J. Scott, D. C. Rao, Donna K. Arnett, Steven C. Hunt, Mark Walker, Heikki A. Koistinen, Giriraj R. Chandak, Josep M. Mercader, Maria C. Costanzo, Dongkeun Jang, Noël P. Burtt, Clicerio Gonzalez Villalpando, Lorena Orozco, Myriam Fornage, EShyong Tai, Rob M. van Dam, Terho Lehtimäki, Nish Chaturvedi, Mitsuhiro Yokota, Jianjun Liu, Dermot F. Reilly, Amy Jayne McKnight, Frank Kee, Karl-Heinz Jöckel, Mark I. McCarthy, Colin N. A. Palmer, Veronique Vitart, Caroline Hayward, Eleanor Simonsick, Cornelia M. van Duijn, Zi-Bing Jin, Jia Qu, Haretsugu Hishigaki, Xu Lin, Winfried März, Vilmundur Gudnason, Jean-Claude Tardif, Guillaume Lettre, Leen M.‘t Hart, Petra J. M. Elders, Scott M. Damrauer, Meena Kumari, Mika Kivimaki, Pim van der Harst, Tim D. Spector, Ruth J. F. Loos, Michael A. Province, Esteban J. Parra, Miguel Cruz, Bruce M. Psaty, Ivan Brandslund, Peter P. Pramstaller, Charles N. Rotimi, Kaare Christensen, Samuli Ripatti, Elisabeth Widén, Hakon Hakonarson, Struan F. A. Grant, Lambertus A. L. M. Kiemeney, Jacqueline de Graaf, Markus Loeffler, Florian Kronenberg, Dongfeng Gu, Jeanette Erdmann, Heribert Schunkert, Paul W. Franks, Allan Linneberg, J. Wouter Jukema, Amit V. Khera, Minna Männikkö, Marjo-Riitta Jarvelin, Zoltan Kutalik, Cucca Francesco, Dennis O. Mook-Kanamori, Ko Willems van Dijk, Hugh Watkins, David P. Strachan, Niels Grarup, Peter Sever, Neil Poulter, Lee-Ming Chuang, Jerome I. Rotter, Thomas M. Dantoft, Fredrik Karpe, Matt J. Neville, Nicholas J. Timpson, Ching-Yu Cheng, Tien-Yin Wong, Chiea Chuen Khor, Hengtong Li, Charumathi Sabanayagam, Annette Peters, Christian Gieger, Andrew T. Hattersley, Nancy L. Pedersen, Patrik K. E. Magnusson, Dorret I. Boomsma, Allegonda H. M. Willemsen, LAdrienne Cupples, Joyce B. J. van Meurs, Mohsen Ghanbari, Penny Gordon-Larsen, Wei Huang, Young Jin Kim, Yasuharu Tabara, Nicholas J. Wareham, Claudia Langenberg, Eleftheria Zeggini, Johanna Kuusisto, Markku Laakso, Erik Ingelsson, Goncalo Abecasis, John C. Chambers, Jaspal S. Kooner, Paul S. de Vries, Alanna C. Morrison, Scott Hazelhurst, Michèle Ramsay, Kari E. North, Martha Daviglus, Peter Kraft, Nicholas G. Martin, John B. Whitfield, Shahid Abbas, Danish Saleheen, Robin G. Walters, Michael V. Holmes, Corri Black, Blair H. Smith, Aris Baras, Anne E. Justice, Julie E. Buring, Paul M. Ridker, Daniel I. Chasman, Charles Kooperberg, Gen Tamiya, Masayuki Yamamoto, David A. van Heel, Richard C. Trembath, Wei-Qi Wei, Gail P. Jarvik, Bahram Namjou, M. Geoffrey Hayes, Marylyn D. Ritchie, Pekka Jousilahti, Veikko Salomaa, Kristian Hveem, Bjørn Olav Åsvold, Michiaki Kubo, Yoichiro Kamatani, Yukinori Okada, Yoshinori Murakami, Bong-Jo Kim, Unnur Thorsteinsdottir, Kari Stefansson, Jifeng Zhang, YEugene Chen, Yuk-Lam Ho, Julie A. Lynch, Daniel J. Rader, Philip S. Tsao, Kyong-Mi Chang, Kelly Cho, Christopher J. O’Donnell, John M. Gaziano, Peter W. F. Wilson, Timothy M. Frayling, Joel N. Hirschhorn, Sekar Kathiresan, Karen L. Mohlke, Yan V. Sun, Andrew P. Morris, Michael Boehnke, Christopher D. Brown, Pradeep Natarajan, Panos Deloukas, Cristen J. Willer, Themistocles L. Assimes, Gina M. Peloso
Publikováno v:
Genome Biology, Vol 23, Iss 1, Pp 1-42 (2022)
Abstract Background Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings
Externí odkaz:
https://doaj.org/article/9cd978d7630d4adaa824100bc31d1ef2
Autor:
Erdi Kucuk, Shreyasee Chakraborty, Marcel R. Nelen, Han G. Brunner, Lisenka E.L.M. Vissers, Primo Baybayan, Michael Kwint, Bart van der Sanden, Alexander Hoischen, Ronny Derks, Marc Pauper, Aaron M. Wenger, Christian Gilissen
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 29(4), 637-648. Nature Publishing Group
European Journal of Human Genetics, 29, 637-648
European Journal of Human Genetics, 29, 4, pp. 637-648
European Journal of Human Genetics, 29(4), 637-648. Nature Publishing Group
European Journal of Human Genetics, 29, 637-648
European Journal of Human Genetics, 29, 4, pp. 637-648
Contains fulltext : 235027.pdf (Publisher’s version ) (Open Access) Long-read sequencing (LRS) has the potential to comprehensively identify all medically relevant genome variation, including variation commonly missed by short-read sequencing (SRS)
Autor:
Aaron M. Wenger, Christian Gilissen, Erdi Kucuk, Shreyasee Chakraborty, Bart van der Sanden, Lisenka E.L.M. Vissers, Michael Kwint, Alexander Hoischen, Ronny Derks, Han G. Brunner, Primo Baybayan, Marc Pauper, Marcel R. Nelen
Publikováno v:
Eur J Hum Genet
Long-read sequencing (LRS) has the potential to comprehensively identify all medically relevant genome variation, including variation commonly missed by short-read sequencing (SRS) approaches. To determine this potential, we performed LRS around 15×
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::befc2461f9449931b1f271e0e186a760
https://europepmc.org/articles/PMC8115538/
https://europepmc.org/articles/PMC8115538/
Autor:
Ronald van Beek, Caroline Schluth-Bolard, Jean Michel Dupont, Tuomo Mantere, Michiel Oorsprong, Alexander Hoischen, Marc Pauper, Dominique Smeets, Kornelia Neveling, Laila El Khattabi, Céline Pebrel-Richard, Marion Benoist, Marian Stevens-Kroef, Aziza Lebbar, Tony Yammine, Imane Baatout, Faten Hsoumi, Guillaume van der Zande, Damien Sanlaville, Ellen Kater-Baats, Daniel Olde-Weghuis, Wed Majdali, Susan Vermeulen
Publikováno v:
American Journal of Human Genetics, 108, 8, pp. 1409-1422
Am J Hum Genet
American Journal of Human Genetics, 108, 1409-1422
Am J Hum Genet
American Journal of Human Genetics, 108, 1409-1422
Chromosomal aberrations including structural variations (SVs) are a major cause of human genetic diseases. Their detection in clinical routine still relies on standard cytogenetics. Drawbacks of these tests are a very low resolution (karyotyping) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d61049c35b3e99e012cc69e4f06a0f35
https://repository.ubn.ru.nl/handle/2066/236917
https://repository.ubn.ru.nl/handle/2066/236917
Autor:
Marian Stevens-Kroef, Susan Vermeulen, Ellen Kater-Baats, Guillaume van der Zande, Michiel Oorsprong, Tuomo Mantere, Dominique Smeets, Kornelia Neveling, Marc Pauper, Daniel Olde Weghuis, Alexander Hoischen, Ronald van Beek
Publikováno v:
American Journal of Human Genetics, 108, 8, pp. 1423-1435
Am J Hum Genet
American Journal of Human Genetics, 108, 1423-1435
Am J Hum Genet
American Journal of Human Genetics, 108, 1423-1435
Somatic structural variants (SVs) are important drivers of cancer development and progression. In a diagnostic set-up, especially for hematological malignancies, the comprehensive analysis of all SVs in a given sample still requires a combination of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14d6de5b18c4305f347335ecc28c81fe
https://doi.org/10.1016/j.ajhg.2021.06.001
https://doi.org/10.1016/j.ajhg.2021.06.001
Autor:
Tuomo Mantere, Laila El Khattabi, Céline Pebrel-Richard, Alexander Hoischen, Marian Stevens-Kroef, Susan Vermeulen, Caroline Schluth-Bolard, Tony Yammine, Michiel Oorsprong, Marion Benoist, Aziza Lebbar, Dominique Smeets, Kornelia Neveling, Ronald van Beek, Jean Michel Dupont, Damien Sanlaville, Guillaume van der Zande, Marc Pauper, Ellen Kater-Baats, Daniel Olde-Weghuis, Imane Baatout, Wed Majdali
Chromosomal aberrations and structural variations are a major cause of human genetic diseases. Their detection in clinical routine still relies on standard cytogenetics, karyotyping and CNV-microarrays, in spite of the low resolution of the first one
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3de8e5628ea67fb1ec3cfa08a4a03583
https://doi.org/10.1101/2020.07.15.205245
https://doi.org/10.1101/2020.07.15.205245
Autor:
Yan Shi, Martine Hoogman, Marc Pauper, Annika L. Weiß, Kornelia Neveling, Bettina Budeus, Barbara Franke, Johanne M. Groothuismink, Marieke Klein, Mandy Meijer, Marina Hakobjan, Jan K. Buitelaar
Publikováno v:
Neuropharmacology, 184
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by age-inappropriate symptoms of inattention and/or hyperactivity and impulsivity. ADHD is highly prevalent in childhood and often persists into adulthood.
Autor:
Marc Pauper, Kornelia Neveling, Susan Vermeulen, Michiel Oorsprong, Dominique Smeets, Daniel Olde Weghuis, Ronald van Beek, Marian Stevens-Kroef, Tuomo Mantere, Alexander Hoischen, Guillaume van der Zande, Ellen Kater-Baats
Somatic structural variants are important for cancer development and progression. In a diagnostic set-up, especially for hematological malignancies, the comprehensive analysis of all cytogenetic aberrations in a given sample still requires a combinat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1015e3b37a4d628457a265b1cef8dcdd
Autor:
Laila El Khattabi, Marc Pauper, Ronald van Beek, Tony Yammine, Tuomo Mantere, Michiel Oorsprong, Caroline Schluth-Bolard, Alexander Hoischen, Kornelia Neveling, Guillaume van der Zande, Susan Vermeulen, Marian Stevens-Kroef, Dominique Smeets, Jean-Michel Dupont, Daniel Olde-Weghuis, Ellen Kater-Baats, Wed Majdali, Céline Richard, Damien Sanlaville, Marion Benoist, Aziza Lebbar, Imane Baatout
Publikováno v:
Molecular Genetics and Metabolism. 132:S263
Autor:
Luigi Faino, Bart P. H. J. Thomma, Marc Pauper, Michael F. Seidl, Xiaoqian Shi-Kunne, Grardy C. M. van den Berg, Alexander H. J. Wittenberg
Publikováno v:
Genome Research 26 (2016) 8
Genome Research, 26, 1091-100
Genome Research, 26(8), 1091-1100
Genome Research, 26, 8, pp. 1091-100
Genome Research, 26, 1091-100
Genome Research, 26(8), 1091-1100
Genome Research, 26, 8, pp. 1091-100
Contains fulltext : 168245.pdf (Publisher’s version ) (Open Access) Genomic plasticity enables adaptation to changing environments, which is especially relevant for pathogens that engage in "arms races" with their hosts. In many pathogens, genes me