CUGC for Stromme syndrome and CENPF-related disorders

by Filges, Isabel, Stromme, Petter
Published in Eur J Hum Genet (2019)

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

by Kalantari, Silvia, Filges, Isabel
Published in J Med Genet (2020)

Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?

by Miny, Peter, Wenzel, Friedel, Tercanli, Sevgi, Filges, Isabel
Published in Microarrays (Basel) (2013)

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

by Strunk, Daniela, Weber, Peter, Röthlisberger, Benno, Filges, Isabel
Published in Mol Cytogenet (2016)

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

by Meier, Nicole, Bruder, Elisabeth, Miny, Peter, Tercanli, Sevgi, Filges, Isabel
Published in Mol Genet Genomic Med (2020)

Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies

by Filges, Isabel, Kang, Anjeung, Klug, Vanessa, Wenzel, Friedel, Heinimann, Karl, Tercanli, Sevgi, Miny, Peter
Published 2012

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

by 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
Published in Eur J Hum Genet (2019)

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

by 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
Published 2010

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)

by Lenherr, Nina, Christodoulou, John, Duley, John, Dobritzsch, Doreen, Fairbanks, Lynette, Datta, Alexandre N., Filges, Isabel, Gürtler, Nicolas, Roelofsen, Jeroen, van Kuilenburg, André B.P., Kemper, Claudia, West, Erin E., Szinnai, Gabor, Huemer, Martina
Published in Mol Genet Metab Rep (2021)

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish

by Reilly, Madeline Louise, Stokman, Marijn F, Magry, Virginie, Jeanpierre, Cecile, Alves, Marine, Paydar, Mohammadjavad, Hellinga, Jacqueline, Delous, Marion, Pouly, Daniel, Failler, Marion, Martinovic, Jelena, Loeuillet, Laurence, Leroy, Brigitte, Tantau, Julia, Roume, Joelle, Gregory-Evans, Cheryl Y, Shan, Xianghong, Filges, Isabel, Allingham, John S, Kwok, Benjamin H, Saunier, Sophie, Giles, Rachel H, Benmerah, Alexandre
Published in Hum Mol Genet (2019)

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?

by 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.
Published in Mol Cytogenet (2015)

Genome sequencing in families with congenital limb malformations

by 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
Published in Hum Genet (2021)