RNAi–Based Functional Profiling of Loci from Blood Lipid Genome-Wide Association Studies Identifies Genes with Cholesterol-Regulatory Function

por Blattmann, Peter, Schuberth, Christian, Pepperkok, Rainer, Runz, Heiko
Publicado 2013

A deaf mother and son with diabetes and renal failure

por Schanz, Jurik, Rudofsky, Gottfried, Runz, Heiko, Rath, Thomas
Publicado 2012

PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants

por Bodea, Corneliu A., Mitchell, Adele A., Bloemendal, Alex, Day-Williams, Aaron G., Runz, Heiko, Sunyaev, Shamil R.
Publicado 2018

The burden of rare protein-truncating genetic variants on human lifespan

por Liu, Jimmy Z., Chen, Chia-Yen, Tsai, Ellen A., Whelan, Christopher D., Sexton, David, John, Sally, Runz, Heiko
Publicado 2022

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

por Stampfer, Miriam, Theiss, Susanne, Amraoui, Yasmina, Jiang, Xuntian, Keller, Sigrid, Ory, Daniel S, Mengel, Eugen, Fischer, Christine, Runz, Heiko
Publicado 2013

Characterization of drug-induced transcriptional modules: towards drug repositioning and functional understanding

por Iskar, Murat, Zeller, Georg, Blattmann, Peter, Campillos, Monica, Kuhn, Michael, Kaminska, Katarzyna H, Runz, Heiko, Gavin, Anne-Claude, Pepperkok, Rainer, van Noort, Vera, Bork, Peer
Publicado 2013

Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells

por Ebrahimi-Fakhari, Darius, Wahlster, Lara, Bartz, Fabian, Werenbeck-Ueding, Jennifer, Praggastis, Maria, Zhang, Jessie, Joggerst-Thomalla, Brigitte, Theiss, Susanne, Grimm, Dirk, Ory, Daniel S., Runz, Heiko
Publicado 2016

Immune system-wide Mendelian randomization and triangulation analyses support autoimmunity as a modifiable component in dementia-causing diseases

por Lindbohm, Joni V., Mars, Nina, Sipilä, Pyry N., Singh-Manoux, Archana, Runz, Heiko, Livingston, Gill, Seshadri, Sudha, Xavier, Ramnik, Hingorani, Aroon D., Ripatti, Samuli, Kivimäki, Mika
Publicado 2022

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

por Herzog, Andreas, Hartung, Ralf, Reuser, Arnold J J, Hermanns, Pia, Runz, Heiko, Karabul, Nesrin, Gökce, Seyfullah, Pohlenz, Joachim, Kampmann, Christoph, Lampe, Christina, Beck, Michael, Mengel, Eugen
Publicado 2012

Rare genetic variants impact muscle strength

por Huang, Yunfeng, Bodnar, Dora, Chen, Chia-Yen, Sanchez-Andrade, Gabriela, Sanderson, Mark, Shi, Jun, Meilleur, Katherine G., Hurles, Matthew E., Gerety, Sebastian S., Tsai, Ellen A., Runz, Heiko
Publicado 2023

Sequencing of a Patient with Balanced Chromosome Abnormalities and Neurodevelopmental Disease Identifies Disruption of Multiple High Risk Loci by Structural Variation

por Blake, Jonathon, Riddell, Andrew, Theiss, Susanne, Gonzalez, Alexis Perez, Haase, Bettina, Jauch, Anna, Janssen, Johannes W. G., Ibberson, David, Pavlinic, Dinko, Moog, Ute, Benes, Vladimir, Runz, Heiko
Publicado 2014

Systematic RNA-interference in primary human monocyte-derived macrophages: A high-throughput platform to study foam cell formation

por Domschke, Gabriele, Linden, Fabian, Pawig, Lukas, Hafner, Anna, Akhavanpoor, Mohammadreza, Reymann, Jürgen, Doesch, Andreas O., Erbel, Christian, Weber, Christian, Katus, Hugo A., Noels, Heidi, Erfle, Holger, Gleissner, Christian A., Runz, Heiko
Publicado 2018

Genome-wide study of longitudinal brain imaging measures of multiple sclerosis progression across six clinical trials

por Loomis, Stephanie J., Sadhu, Nilanjana, Fisher, Elizabeth, Gafson, Arie R., Huang, Yunfeng, Yang, Chengran, Hughes, Emily E., Marshall, Eric, Herman, Ann, John, Sally, Runz, Heiko, Jia, Xiaoming, Bhangale, Tushar, Bronson, Paola G.
Publicado 2023

Genetic associations of protein-coding variants in human disease

por Sun, Benjamin B., Kurki, Mitja I., Foley, Christopher N., Mechakra, Asma, Chen, Chia-Yen, Marshall, Eric, Wilk, Jemma B., Chahine, Mohamed, Chevalier, Philippe, Christé, Georges, Palotie, Aarno, Daly, Mark J., Runz, Heiko
Publicado 2022

Collective genomic segments with differential pleiotropic patterns between cognitive dimensions and psychopathology

por Lam, Max, Chen, Chia-Yen, Hill, W. David, Xia, Charley, Tian, Ruoyu, Levey, Daniel F., Gelernter, Joel, Stein, Murray B., Hatoum, Alexander S., Huang, Hailiang, Malhotra, Anil K., Runz, Heiko, Ge, Tian, Lencz, Todd
Publicado 2022

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

por Cortina-Borja, Mario, te Vruchte, Danielle, Mengel, Eugen, Amraoui, Yasmin, Imrie, Jackie, Jones, Simon A., i Dali, Christine, Fineran, Paul, Kirkegaard, Thomas, Runz, Heiko, Lachmann, Robin, Bremova-Ertl, Tatiana, Strupp, Michael, Platt, Frances M.
Publicado 2018

Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake

por Zimoń, Magdalena, Huang, Yunfeng, Trasta, Anthi, Halavatyi, Aliaksandr, Liu, Jimmy Z., Chen, Chia-Yen, Blattmann, Peter, Klaus, Bernd, Whelan, Christopher D., Sexton, David, John, Sally, Huber, Wolfgang, Tsai, Ellen A., Pepperkok, Rainer, Runz, Heiko
Publicado 2021

A Frequent PNPLA3 Variant Is a Sex Specific Disease Modifier in PSC Patients with Bile Duct Stenosis

por Friedrich, Kilian, Rupp, Christian, Hov, Johannes Roksund, Steinebrunner, Niels, Weiss, Karl-Heinz, Stiehl, Adolf, Brune, Maik, Schaefer, Petra Kloeters Yvonne, Schemmer, Peter, Sauer, Peter, Schirmacher, Peter, Runz, Heiko, Karlsen, Tom Hemming, Stremmel, Wolfgang, Gotthardt, Daniel Nils
Publicado 2013

Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

por Thormaehlen, Aenne S., Schuberth, Christian, Won, Hong-Hee, Blattmann, Peter, Joggerst-Thomalla, Brigitte, Theiss, Susanne, Asselta, Rosanna, Duga, Stefano, Merlini, Pier Angelica, Ardissino, Diego, Lander, Eric S., Gabriel, Stacey, Rader, Daniel J., Peloso, Gina M., Pepperkok, Rainer, Kathiresan, Sekar, Runz, Heiko
Publicado 2015

The impact of rare protein coding genetic variation on adult cognitive function

por Chen, Chia-Yen, Tian, Ruoyu, Ge, Tian, Lam, Max, Sanchez-Andrade, Gabriela, Singh, Tarjinder, Urpa, Lea, Liu, Jimmy Z., Sanderson, Mark, Rowley, Christine, Ironfield, Holly, Fang, Terry, Daly, Mark, Palotie, Aarno, Tsai, Ellen A., Huang, Hailiang, Hurles, Matthew E., Gerety, Sebastian S., Lencz, Todd, Runz, Heiko
Publicado 2023