CUGC for Stromme syndrome and CENPF-related disorders

Autor Filges, Isabel, Stromme, Petter
Vydáno v Eur J Hum Genet (2019)

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

Autor Kalantari, Silvia, Filges, Isabel
Vydáno v J Med Genet (2020)

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

Autor Miny, Peter, Wenzel, Friedel, Tercanli, Sevgi, Filges, Isabel
Vydáno v Microarrays (Basel) (2013)

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

Autor Strunk, Daniela, Weber, Peter, Röthlisberger, Benno, Filges, Isabel
Vydáno v Mol Cytogenet (2016)

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

Autor Meier, Nicole, Bruder, Elisabeth, Miny, Peter, Tercanli, Sevgi, Filges, Isabel
Vydáno v Mol Genet Genomic Med (2020)

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

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

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

Autor 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
Vydáno v Eur J Hum Genet (2019)

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

Autor 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
Vydáno 2010

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

Autor 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
Vydáno v Mol Genet Metab Rep (2021)

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

Autor 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
Vydáno v 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?

Autor 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.
Vydáno v Mol Cytogenet (2015)

Genome sequencing in families with congenital limb malformations

Autor 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
Vydáno v Hum Genet (2021)