‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects

por Kalantari, Silvia, Filges, Isabel
Publicado 2020

Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?

por Strunk, Daniela, Weber, Peter, Röthlisberger, Benno, Filges, Isabel
Publicado 2016

Elevated pyrimidine dimer formation at distinct genomic bases underlies promoter mutation hotspots in UV-exposed cancers

por Elliott, Kerryn, Boström, Martin, Filges, Stefan, Lindberg, Markus, Van den Eynden, Jimmy, Ståhlberg, Anders, Clausen, Anders R., Larsson, Erik
Publicado 2018

Multilaboratory Assessment of a New Reference Material for Quality Assurance of Cell-Free Tumor DNA Measurements

por He, Hua-Jun, Stein, Erica V., Konigshofer, Yves, Forbes, Thomas, Tomson, Farol L., Garlick, Russell, Yamada, Emiko, Godfrey, Tony, Abe, Toshiya, Tamura, Koji, Borges, Michael, Goggins, Michael, Elmore, Sandra, Gulley, Margaret L., Larson, Jessica L., Ringel, Lando, Haynes, Brian C., Karlovich, Chris, Williams, P. Mickey, Garnett, Aaron, Ståhlberg, Anders, Filges, Stefan, Sorbara, Lynn, Young, Mathew R., Srivastava, Sudhir, Cole, Kenneth D.
Publicado 2019

Visualization and quantification of inhomogeneous and anisotropic magnetic fields by polarized neutron grating interferometry

por Valsecchi, Jacopo, Harti, Ralph P., Raventós, Marc, Siegwart, Muriel D., Morgano, Manuel, Boillat, Pierre, Strobl, Markus, Hautle, Patrick, Holitzner, Lothar, Filges, Uwe, Treimer, Wolfgang, Piegsa, Florian M., Grünzweig, Christian
Publicado 2019

Expanding the spectrum of SMAD3‐related phenotypes to agnathia‐otocephaly

por Meier, Nicole, Bruder, Elisabeth, Miny, Peter, Tercanli, Sevgi, Filges, Isabel
Publicado 2020

Microarray-Based Maps of Copy-Number Variant Regions in European and Sub-Saharan Populations

por Vogler, Christian, Gschwind, Leo, Röthlisberger, Benno, Huber, Andreas, Filges, Isabel, Miny, Peter, Auschra, Bianca, Stetak, Attila, Demougin, Philippe, Vukojevic, Vanja, Kolassa, Iris-Tatjana, Elbert, Thomas, de Quervain, Dominique J.-F., Papassotiropoulos, Andreas
Publicado 2010

Patient perspectives on peer support for adults with type 1 diabetes: a need for diabetes-specific social capital

por Joensen, Lene E, Filges, Tine, Willaing, Ingrid
Publicado 2016

Impact of Polymerase Fidelity on Background Error Rates in Next-Generation Sequencing with Unique Molecular Identifiers/Barcodes

por Filges, Stefan, Yamada, Emiko, Ståhlberg, Anders, Godfrey, Tony E.
Publicado 2019

‘It’s a nightmare’: informed consent in paediatric genome-wide sequencing. A qualitative expert interview study from Germany and Switzerland

por Eichinger, Johanna, Zimmermann, Bettina, Elger, Bernice, McLennan, Stuart, Filges, Isabel, Koné, Insa
Publicado 2023

Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries

por Meier, Nicole, Bruder, Elisabeth, Lapaire, Olav, Hoesli, Irene, Kang, Anjeung, Hench, Jürgen, Hoeller, Sylvia, De Geyter, Julie, Miny, Peter, Heinimann, Karl, Chaoui, Rabih, Tercanli, Sevgi, Filges, Isabel
Publicado 2019

The PEMDAC phase 2 study of pembrolizumab and entinostat in patients with metastatic uveal melanoma

por Ny, Lars, Jespersen, Henrik, Karlsson, Joakim, Alsén, Samuel, Filges, Stefan, All-Eriksson, Charlotta, Andersson, Bengt, Carneiro, Ana, Helgadottir, Hildur, Levin, Max, Ljuslinder, Ingrid, Olofsson Bagge, Roger, Sah, Vasu R., Stierner, Ulrika, Ståhlberg, Anders, Ullenhag, Gustav, Nilsson, Lisa M., Nilsson, Jonas A.
Publicado 2021

Expanding the KIF4A ‐associated phenotype

por Kalantari, Silvia, Carlston, Colleen, Alsaleh, Norah, Abdel‐Salam, Ghada M. H., Alkuraya, Fowzan, Kato, Mitsuhiro, Matsumoto, Naomichi, Miyatake, Satoko, Yamamoto, Tatsuya, Fares‐Taie, Lucas, Rozet, Jean‐Michel, Chassaing, Nicolas, Vincent‐Delorme, Catherine, Kang‐Bellin, Anjeung, McWalter, Kirsty, Bupp, Caleb, Palen, Emily, Wagner, Monisa D., Niceta, Marcello, Cesario, Claudia, Milone, Roberta, Kaplan, Julie, Wadman, Erin, Dobyns, William B., Filges, Isabel
Publicado 2021

Overcoming High Energy Backgrounds at Pulsed Spallation Sources

por Cherkashyna, Nataliia, Hall-Wilton, Richard J., DiJulio, Douglas D., Khaplanov, Anton, Pfeiffer, Dorothea, Scherzinger, Julius, Cooper-Jensen, Carsten P., Fissum, Kevin G., Ansell, Stuart, Iverson, Erik B., Ehlers, Georg, Gallmeier, Franz X., Panzner, Tobias, Rantsiou, Emmanouela, Kanaki, Kalliopi, Filges, Uwe, Kittelmann, Thomas, Extegarai, Maddi, Santoro, Valentina, Kirstein, Oliver, Bentley, Phillip M.
Publicado 2015

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

por Dhombres, Ferdinand, Morgan, Patricia, Chaudhari, Bimal P., Filges, Isabel, Sparks, Teresa N., Lapunzina, Pablo, Roscioli, Tony, Agarwal, Umber, Aggarwal, Shagun, Beneteau, Claire, Cacheiro, Pilar, Carmody, Leigh C., Collardeau‐Frachon, Sophie, Dempsey, Esther A., Dufke, Andreas, Duyzend, Michael Henri, el Ghosh, Mirna, Giordano, Jessica L., Glad, Ragnhild, Grinfelde, Ieva, Iliescu, Dominic G., Ladewig, Markus S., Munoz‐Torres, Monica C., Pollazzon, Marzia, Radio, Francesca Clementina, Rodo, Carlota, Silva, Raquel Gouveia, Smedley, Damian, Sundaramurthi, Jagadish Chandrabose, Toro, Sabrina, Valenzuela, Irene, Vasilevsky, Nicole A., Wapner, Ronald J., Zemet, Roni, Haendel, Melissa A, Robinson, Peter N.
Publicado 2022

Genome sequencing in families with congenital limb malformations

por Elsner, Jonas, Mensah, Martin A., Holtgrewe, Manuel, Hertzberg, Jakob, Bigoni, Stefania, Busche, Andreas, Coutelier, Marie, de Silva, Deepthi C., Elçioglu, Nursel, Filges, Isabel, Gerkes, Erica, Girisha, Katta M., Graul-Neumann, Luitgard, Jamsheer, Aleksander, Krawitz, Peter, Kurth, Ingo, Markus, Susanne, Megarbane, Andre, Reis, André, Reuter, Miriam S., Svoboda, Daniel, Teller, Christopher, Tuysuz, Beyhan, Türkmen, Seval, Wilson, Meredith, Woitschach, Rixa, Vater, Inga, Caliebe, Almuth, Hülsemann, Wiebke, Horn, Denise, Mundlos, Stefan, Spielmann, Malte
Publicado 2021

Body surface scan anthropometrics are related to cardiorespiratory fitness in the general population

por Köhler, Armin, Filges, Berit, Völzke, Henry, Felix, Stephan B., Ewert, Ralf, Stubbe, Beate, Markus, Marcello R. P., Groß, Stefan, Dörr, Marcus, Ittermann, Till, Bahls, Martin
Publicado 2022

The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review

por Eichinger, Johanna, Elger, Bernice S., Koné, Insa, Filges, Isabel, Shaw, David, Zimmermann, Bettina, McLennan, Stuart
Publicado 2021

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

por Ehret, Julia K., Engels, Hartmut, Cremer, Kirsten, Becker, Jessica, Zimmermann, Johannes P., Wohlleber, Eva, Grasshoff, Ute, Rossier, Eva, Bonin, Michael, Mangold, Elisabeth, Bevot, Andrea, Schön, Stefanie, Heilmann-Heimbach, Stefanie, Dennert, Nicola, Mathieu-Dramard, Michèle, Lacaze, Elodie, Plessis, Ghislaine, de Broca, Alain, Jedraszak, Guillaume, Röthlisberger, Benno, Miny, Peter, Filges, Isabel, Dufke, Andreas, Andrieux, Joris, Lee, Jennifer A., Zink, Alexander M.
Publicado 2015

Outreach programs to improve life circumstances and prevent further adverse developmental trajectories of at‐risk youth in OECD countries: A systematic review

por Filges, Trine, Dalgaard, Nina T., Viinholt, Bjørn C. A.
Publicado 2022