CUGC for Stromme syndrome and CENPF-related disorders

Por Filges, Isabel, Stromme, Petter
Publicado no Eur J Hum Genet (2019)

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

Por Kalantari, Silvia, Filges, Isabel
Publicado no J Med Genet (2020)

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

Por Miny, Peter, Wenzel, Friedel, Tercanli, Sevgi, Filges, Isabel
Publicado no Microarrays (Basel) (2013)

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 no Mol Cytogenet (2016)

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

Por Meier, Nicole, Bruder, Elisabeth, Miny, Peter, Tercanli, Sevgi, Filges, Isabel
Publicado no Mol Genet Genomic Med (2020)

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

Por Filges, Isabel, Kang, Anjeung, Klug, Vanessa, Wenzel, Friedel, Heinimann, Karl, Tercanli, Sevgi, Miny, Peter
Publicado em 2012

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 no Eur J Hum Genet (2019)

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 em 2010

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

Por 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
Publicado no Mol Genet Metab Rep (2021)

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

Por 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
Publicado no 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?

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 no Mol Cytogenet (2015)