CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

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 Geoffrey 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 Ian 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 authors
Geuvadis 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 authors
Geuvadis Consortium
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing.
Sci. Rep. 6:32406.1-32406.13(2016)

PubMed=29116076; DOI=10.1038/s41467-017-01467-7; PMCID=PMC5677018
Marco Garieri, Olivier Delaneau, Federico Andrea Santoni, Richard J. Fish, David Mull, Piero Carninci, Emmanouil Theophilos Dermitzakis, Stylianos E. Antonarakis, Alexandre Fort;
The effect of genetic variation on promoter usage and enhancer activity.
Nat. Commun. 8:1358.1-1358.9(2017)

PubMed=31401124; DOI=10.1016/j.jmoldx.2019.06.007; PMCID=PMC6854474
Andrea Gaedigk, Amy Turner, Robin E. Everts, Stuart A. Scott, Praful Aggarwal, Ulrich Broeckel, Gwendolyn A. McMillin, Roberta Melis, Erin C. Boone, Victoria M. Pratt, Lisa V. Kalman;
Characterization of reference materials for genetic testing of CYP2D6 alleles: a GeT-RM collaborative project.
J. Mol. Diagn. 21:1034-1052(2019)