A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.Manish A. Shah, Nicole A. Datson, Lakshmi Srinidhi, VP Stanton, Marcy E. MacDonald, Marc W. Allard, S Youngman, Frischauf Am, Richard Mott, KM Draths, G. Zehetner, Claire O’Donovan, T Fielder, Bruce G. Jenkins, Manju Swaroop, Scott A. Taylor, L. Doucette-Stamm, H MacFarlane, SA Strobel, H. E. McFarlane, Buckler Aj, Nicolet Groot, Holger Hummerich, Deanna M. Church, Marilyn A. Anderson, Marianne F. James, Glenn Barnes, M. Carle Christine, FS Collins, MP Duyao, Peter B. Dervan, Gillian P. Bates, Tracey Holloway, P S Harper, TW Mcdonald, Michael North, K Blanchard, J.J. Wasmuth, Duncan Shaw, Hans Lehrach, Danilo A. Tagle, A. Poustka, Housman De, T. Huntington, Zdeněk Sedláček, Laura Riba, Suzanne L. Kirby, Carol Sze Ki Lin, RH Myers, Larry H. Thompson, Russell G. Snell, Michael O'Donovan, Kathleen M. Gillespie, Rita Shiang, NS Wexler, CM Ambrose, J.F. Gusella, Sarah Baxendale, N. Groat, John Valdes
Cell. 19933,069 Citations
Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene PromotersBiola M. Javierre, Oliver S. Burren, Steven P. Wilder, Roman Kreuzhuber, Steven M. Hill, Sven Sewitz, Jonathan Cairns, Steven Wingett, Csilla Várnai, Michiel J. Thiecke, Frances Burden, Samantha Farrow, Antony J. Cutler, Karola Rehnström, Kate Downes, Luigi Grassi, Myrto Kostadima, Paula Freire-Pritchett, Fan Wang, Joost H.A. Martens, Bowon Kim, Nilofar Sharifi, Eva M. Janssen‐Megens, Marie‐Laure Yaspo, Matthias Linser, Alexander Kovacsovics, Laura Clarke, David Richardson, Avik Datta, Paul Flicek, Hendrik G. Stunnenberg, John A. Todd, Daniel R. Zerbino, Oliver Stegle, Willem H. Ouwehand, Mattia Frontini, Chris Wallace, Mikhail Spivakov, Peter Fraser
Cell. 20161,194 CitationsOPEN ACCESS
A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic ricketsFiona Francis, Steffen Hennig, Bernd Korn, Richard Reinhardt, P. de Jong, Albert J. Poustka, Hans Lehrach, Peter Rowe, J.N. Goulding, Tina C. Summerfield, R. Mountford, Andrew Read, Ewa Popowska, Ewa Pronicka, Kay E. Davies, J. L. H. O’Riordan, Michael J. Econs, Teresa Nesbitt, M. K. Drezner, C Oudet, Solange Pannetier, André Hanauer, Tim M. Strom, A Meindl, Bettina Lorenz, B. Cagnoli, Klaus Mohnike, Jan Murken, Thomas Meitinger
Nature Genetics. 19951,117 Citations
Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumorsJulie George, Vonn Walter, Martin Peifer, Ludmil B. Alexandrov, Danila Seidel, Frauke Leenders, Lukas Maas, Christian Müller, Ilona Dahmen, Tiffany M. Delhomme, Maude Ardin, Noémie Leblay, Graham Byrnes, Ruping Sun, Aurélien de Reyniès, Anne McLeer‐Florin, Graziella Bosco, Florian Malchers, Roopika Menon, Janine Altmüller, Christian Becker, Peter Nürnberg, Viktor Achter, Ulrich Lang, Peter M. Schneider, Magdalena Bogus, Matthew G. Soloway, Matthew D. Wilkerson, Yupeng Cun, James McKay, Denis Moro‐Sibilot, Christian Brambilla, Sylvie Lantuéjoul, Nicolas Lemaître, Alex Soltermann, Walter Weder, Verena Tischler, Odd Terje Brustugun, Marius Lund‐Iversen, Åslaug Helland, Steinar Solberg, Sascha Ansén, Gavin Wright, Benjamin Solomon, Luca Roz, Ugo Pastorino, Iver Petersen, Joachim H. Clement, Jörg Sänger, Jürgen Wolf, Martin Vingron, Thomas Zander, Sven Perner, William D. Travis, Stefan A. Haas, Magali Olivier, Matthieu Foll, Reinhard Büttner, D. Neil Hayes, Élisabeth Brambilla, Lynnette Fernandez‐Cuesta, Roman K. Thomas
Nature Communications. 2018377 CitationsOPEN ACCESS
Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoireNissim Ben‐Arie, Doron Lancet, Clare Taylor, Miriam Khen, NaomlWalker, David H. Ledbetter, Romeo Carrozzo, Ketan Patel, Denise Sheer, Hans Lehrach, Michael North
Human Molecular Genetics. 1994199 Citations