Introducing Genetics – 2nd Edition

Por Lodder, Elisabeth M
Publicado no Eur J Hum Genet (2016)

Mouse Models in Arrhythmogenic Right Ventricular Cardiomyopathy

Por Lodder, Elisabeth M., Rizzo, Stefania
Publicado em 2012

Dissection of a Quantitative Trait Locus for PR Interval Duration Identifies Tnni3k as a Novel Modulator of Cardiac Conduction

Por Lodder, Elisabeth M., Scicluna, Brendon P., Milano, Annalisa, Sun, Albert Y., Tang, Hao, Remme, Carol Ann, Moerland, Perry D., Tanck, Michael W. T., Pitt, Geoffrey S., Marchuk, Douglas A., Bezzina, Connie R.
Publicado em 2012

Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly

Por Lodder, Elisabeth M., Eussen, Bert H., van Hassel, Daniëlla A. C. M., Hoogeboom, A. Jeannette M., Poddighe, Pino J., Coert, J. Henk, Oostra, Ben A., de Klein, Annelies, de Graaff, Esther
Publicado em 2009

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death

Por Lahrouchi, Najim, Lodder, Elisabeth M, Mansouri, Maria, Tadros, Rafik, Zniber, Layla, Adadi, Najlae, Clur, Sally-Ann B, van Spaendonck-Zwarts, Karin Y, Postma, Alex V, Sefiani, Abdelaziz, Ratbi, Ilham, Bezzina, Connie R
Publicado no Eur J Hum Genet (2017)

Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell–Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease–Causing Mutation

Por Veerman, Christiaan C., Mengarelli, Isabella, Lodder, Elisabeth M., Kosmidis, Georgios, Bellin, Milena, Zhang, Miao, Dittmann, Sven, Guan, Kaomei, Wilde, Arthur A. M., Schulze‐Bahr, Eric, Greber, Boris, Bezzina, Connie R., Verkerk, Arie O.
Publicado no J Am Heart Assoc (2017)

Genome-Wide Identification of Expression Quantitative Trait Loci (eQTLs) in Human Heart

Por Koopmann, Tamara T., Adriaens, Michiel E., Moerland, Perry D., Marsman, Roos F., Westerveld, Margriet L., Lal, Sean, Zhang, Taifang, Simmons, Christine Q., Baczko, Istvan, dos Remedios, Cristobal, Bishopric, Nanette H., Varro, Andras, George, Alfred L., Lodder, Elisabeth M., Bezzina, Connie R.
Publicado em 2014

Coxsackie and adenovirus receptor (CAR) is a modifier of cardiac conduction and arrhythmia vulnerability in the setting of myocardial ischemia

Por Marsman, Roos F.J., Bezzina, Connie R., Freiberg, Fabian, Verkerk, Arie O., Adriaens, Michiel E., Podliesna, Svitlana, Chen, Chen, Purfürst, Bettina, Spallek, Bastian, Koopmann, Tamara T., Baczko, Istvan, dos Remedios, Cristobal G., George, Alfred L., Bishopric, Nanette H., Lodder, Elisabeth M., de Bakker, Jacques M.T., Fischer, Robert, Coronel, Ruben, Wilde, Arthur A.M., Gotthardt, Michael, Remme, Carol Ann
Publicado em 2013

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

Por Lahrouchi, Najim, Raju, Hariharan, Lodder, Elisabeth M., Papatheodorou, Efstathios, Ware, James S., Papadakis, Michael, Tadros, Rafik, Cole, Della, Skinner, Jonathan R., Crawford, Jackie, Love, Donald R., Pua, Chee J., Soh, Bee Y., Bhalshankar, Jaydutt D., Govind, Risha, Tfelt-Hansen, Jacob, Winkel, Bo G., van der Werf, Christian, Wijeyeratne, Yanushi D., Mellor, Greg, Till, Jan, Cohen, Marta C., Tome-Esteban, Maria, Sharma, Sanjay, Wilde, Arthur A.M., Cook, Stuart A., Bezzina, Connie R., Sheppard, Mary N., Behr, Elijah R.
Publicado no J Am Coll Cardiol (2017)

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy

Por Heinig, Matthias, Adriaens, Michiel E., Schafer, Sebastian, van Deutekom, Hanneke W. M., Lodder, Elisabeth M., Ware, James S., Schneider, Valentin, Felkin, Leanne E., Creemers, Esther E., Meder, Benjamin, Katus, Hugo A., Rühle, Frank, Stoll, Monika, Cambien, François, Villard, Eric, Charron, Philippe, Varro, Andras, Bishopric, Nanette H., George, Alfred L., dos Remedios, Cristobal, Moreno-Moral, Aida, Pesce, Francesco, Bauerfeind, Anja, Rüschendorf, Franz, Rintisch, Carola, Petretto, Enrico, Barton, Paul J., Cook, Stuart A., Pinto, Yigal M., Bezzina, Connie R., Hubner, Norbert
Publicado no Genome Biol (2017)

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

Por Lodder, Elisabeth M., De Nittis, Pasquelena, Koopman, Charlotte D., Wiszniewski, Wojciech, Moura de Souza, Carolina Fischinger, Lahrouchi, Najim, Guex, Nicolas, Napolioni, Valerio, Tessadori, Federico, Beekman, Leander, Nannenberg, Eline A., Boualla, Lamiae, Blom, Nico A., de Graaff, Wim, Kamermans, Maarten, Cocciadiferro, Dario, Malerba, Natascia, Mandriani, Barbara, Akdemir, Zeynep Hande Coban, Fish, Richard J., Eldomery, Mohammad K., Ratbi, Ilham, Wilde, Arthur A.M., de Boer, Teun, Simonds, William F., Neerman-Arbez, Marguerite, Sutton, V. Reid, Kok, Fernando, Lupski, James R., Reymond, Alexandre, Bezzina, Connie R., Bakkers, Jeroen, Merla, Giuseppe
Publicado no Am J Hum Genet (2016)

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

Por Lodder, Elisabeth M., De Nittis, Pasquelena, Koopman, Charlotte D., Wiszniewski, Wojciech, Moura de Souza, Carolina Fischinger, Lahrouchi, Najim, Guex, Nicolas, Napolioni, Valerio, Tessadori, Federico, Beekman, Leander, Nannenberg, Eline A., Boualla, Lamiae, Blom, Nico A., de Graaff, Wim, Kamermans, Maarten, Cocciadiferro, Dario, Malerba, Natascia, Mandriani, Barbara, Coban Akdemir, Zeynep Hande, Fish, Richard J., Eldomery, Mohammad K., Ratbi, Ilham, Wilde, Arthur A.M., de Boer, Teun, Simonds, William F., Neerman-Arbez, Marguerite, Sutton, V. Reid, Kok, Fernando, Lupski, James R., Reymond, Alexandre, Bezzina, Connie R., Bakkers, Jeroen, Merla, Giuseppe
Publicado no Am J Hum Genet (2016)

Genome-wide association of multiple complex traits in outbred mice by ultra low-coverage sequencing

Por Nicod, Jérôme, Davies, Robert W., Cai, Na, Hassett, Carl, Goodstadt, Leo, Cosgrove, Cormac, Yee, Benjamin K, Lionikaite, Vikte, McIntyre, Rebecca E, Remme, Carol Ann, Lodder, Elisabeth M., Gregory, Jennifer S., Hough, Tertius, Joynson, Russell, Phelps, Hayley, Nell, Barbara, Rowe, Clare, Wood, Joe, Walling, Alison, Bopp, Nasrin, Bhomra, Amarjit, Hernandez-Pliego, Polinka, Callebert, Jacques, Aspden, Richard M., Talbot, Nick P, Robbins, Peter A, Harrison, Mark, Fray, Martin, Launay, Jean-Marie, Pinto, Yigal M., Blizard, David A., Bezzina, Connie R., Adams, David J, Franken, Paul, Weaver, Tom, Wells, Sara, Brown, Steve DM, Potter, Paul K, Klenerman, Paul, Lionikas, Arimantas, Mott, Richard, Flint, Jonathan
Publicado no Nat Genet (2016)