Publications | PubMed=21397061; DOI=10.1016/j.ajhg.2011.02.004; PMCID=PMC3059424 Catarina D. Campbell, Nick Sampas, Anya Tsalenko, Peter H. Sudmant, Jeffrey M. Kidd, Maika Malig, Tiffany H. Vu, Laura Vives, Peter Tsang, Laurakay Bruhn, Evan E. Eichler; Population-genetic properties of differentiated human copy-number polymorphisms. Am. J. Hum. Genet. 88:317-332(2011) PubMed=24037378; DOI=10.1038/nature12531; PMCID=PMC3918453 Tuuli Lappalainen, Michael Sammeth, Marc R. Friedlander, Peter A.C. 't Hoen, Jean Monlong, Manuel A. Rivas, Mar Gonzalez-Porta, Natalja Kurbatova, Thasso Griebel, Pedro G. Ferreira, Matthias Barann ...Show all 57 authors... , Thomas Wieland, Liliana Greger, Maarten van Iterson, Jonas Carlsson Almlof, Paolo Ribeca, Irina Pulyakhina, Daniela Esser, Thomas Giger, Andrew Tikhonov, Marc Sultan, Gabrielle Bertier, Daniel G. MacArthur, Monkol Lek, Esther Lizano, Henk P.J. Buermans, Ismael Padioleau, Thomas Schwarzmayr, Olof Karlberg, Halit Ongen, Helena Kilpinen, Sergi Beltran, Marta Gut, Katja Kahlem, Vyacheslav Amstislavskiy, Oliver Stegle, Matti Pirinen, Stephen B. Montgomery, Peter Donnelly, Mark I. McCarthy, Paul Flicek, Tim-Matthias Strom, Hans Lehrach, Stefan Schreiber, Ralf Sudbrak, Angel Carracedo, Stylianos E. Antonarakis, Robert Hasler, Ann-Christine Syvanen, Gert-Jan B. van Ommen, Alvis Brazma, Thomas Meitinger, Philip Rosenstiel, Roderic Guigo, Ivo G. Gut, Xavier Estivill, Emmanouil Theophilos Dermitzakis; Show fewer authorsGeuvadis Consortium Transcriptome and genome sequencing uncovers functional variation in humans. Nature 501:506-511(2013) PubMed=27617755; DOI=10.1038/srep32406; PMCID=PMC5019111 Pedro G. Ferreira, Martin Oti, Matthias Barann, Thomas Wieland, Suzana Ezquina, Marc R. Friedlander, Manuel A. Rivas, Anna Esteve-Codina, Philip Rosenstiel, Tim-Matthias Strom, Tuuli Lappalainen ...Show all 13 authors... , Roderic Guigo, Michael Sammeth; Show fewer authorsGeuvadis Consortium Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing. Sci. Rep. 6:32406-32406(2016) PubMed=31048460; DOI=10.1126/science.aat8266 Olivier Delaneau, Marianna Zazhytska, Christelle Borel, Giuliana Giannuzzi, Guillaume Rey, Cedric Howald, Sunil Kumar, Halit Ongen, Konstantin Y. Popadin, Daniel Marbach, Giovanna Ambrosini ...Show all 22 authors... , Deborah Bielser, David Lynn Hacker, Luciana Romano, Pascale Ribaux, Michael Wiederkehr, Emilie Falconnet, Philipp Bucher, Sven Bergmann, Stylianos E. Antonarakis, Alexandre Reymond, Emmanouil Theophilos Dermitzakis; Show fewer authors Chromatin three-dimensional interactions mediate genetic effects on gene expression. Science 364:eaat8266.1-eaat8266.10(2019) PubMed=35931342; DOI=10.1016/j.jmoldx.2022.06.008; PMCID=PMC9554816 Victoria M. Pratt, Wendy Y. Wang, Erin C. Boone, Ulrich Broeckel, Neal Cody, Lisa J. Edelmann, Andrea Gaedigk, Tyler C. Lynnes, Elizabeth Medeiros, Ann M. Moyer, Matthew M. Mitchell ...Show all 15 authors... , Stuart A. Scott, Petr Starostik, Amy Turner, Lisa V. Kalman; Show fewer authors Characterization of reference materials for TPMT and NUDT15: a GeT-RM collaborative project. J. Mol. Diagn. 24:1079-1088(2022) |