Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype von Filges, I., Nosova, E., Bruder, E., Tercanli, S., Townsend, K., Gibson, W.T., Röthlisberger, B., Heinimann, K., Hall, J.G., Gregory-Evans, C.Y., Wasserman, W.W., Miny, P., Friedman, J.M.

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Attitudes Towards Non-directiveness Among Medical Geneticists in Germany and Switzerland von Eichinger, J, Elger, B S, McLennan, S, Filges, I, Koné, I

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Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants von Filges, I, Manokhina, I, Peñaherrera, M S, McFadden, D E, Louie, K, Nosova, E, Friedman, J M, Robinson, W P

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Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder von Chaudhry, A., Noor, A., Degagne, B., Baker, K., Bok, L. A., Brady, A. F., Chitayat, D., Chung, B. H., Cytrynbaum, C., Dyment, D., Filges, I., Helm, B., Hutchison, H. T., Jeng, L. J. B., Laumonnier, F., Marshall, C. R., Menzel, M., Parkash, S., Parker, M. J., Raymond, L. F., Rideout, A. L., Roberts, W., Rupps, R., Schanze, I., Schrander-Stumpel, C. T. R. M., Speevak, M. D., Stavropoulos, D. J., Stevens, S. J. C., Thomas, E. R. A., Toutain, A., Vergano, S., Weksberg, R., Scherer, S. W., Vincent, J. B., Carter, M. T.

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Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism von Filges, I, Röthlisberger, B, Blattner, A, Boesch, N, Demougin, P, Wenzel, F, Huber, AR, Heinimann, K, Weber, P, Miny, P

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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities von D’Angelo, Debra, Lebon, Sébastien, Chen, Qixuan, Martin-Brevet, Sandra, Snyder, LeeAnne Green, Hippolyte, Loyse, Hanson, Ellen, Maillard, Anne M, Faucett, W. Andrew, Macé, Aurélien, Pain, Aurélie, Bernier, Raphael, Chawner, Samuel J. R. A, David, Albert, Andrieux, Joris, Aylward, Elizabeth, Baujat, Genevieve, Caldeira, Ines, Conus, Philippe, Ferrari, Carrina, Forzano, Francesca, Gérard, Marion, Goin-Kochel, Robin P, Grant, Ellen, Hunter, Jill V, Isidor, Bertrand, Jacquette, Aurélia, Jønch, Aia E, Keren, Boris, Lacombe, Didier, Le Caignec, Cédric, Martin, Christa Lese, Männik, Katrin, Metspalu, Andres, Mignot, Cyril, Mukherjee, Pratik, Owen, Michael J, Passeggeri, Marzia, Rooryck-Thambo, Caroline, Rosenfeld, Jill A, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Van Haelst, Mieke, Shen, Yiping, Draganski, Bogdan, Sherr, Elliott H, Ledbetter, David H, van den Bree, Marianne B. M, Beckmann, Jacques S, Spiro, John E, Reymond, Alexandre, Jacquemont, Sébastien, Chung, Wendy K

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Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome von Filges, Isabel, Shimojima, Keiko, Okamoto, Nobuhiko, Röthlisberger, Benno, Weber, Peter, Huber, Andreas R, Nishizawa, Tsutomu, Datta, Alexandre N, Miny, Peter, Yamamoto, Toshiyuki

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Supplementary Material for: Gene Ontology Enrichment Analysis of Renal Agenesis: Improving Prenatal Molecular Diagnosis von S., Kalantari, I., Filges

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Präimplantationsdiagnostik weltweit von Schmutzler, A.G, von Otte, S, Tobler, M, Filges, I, Eckmann-Scholz, C, Miny, P

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Zukunft des Aneuploidiescreenings von Schmutzler, A.G, Filges, I, Al-Hasani, S, Diedrich, K, Miny, P

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Cult Image or Decor? Options for the Interpretation of Deities on Provincial Coinage from Asia Minor in an Overview of Research History von Filges, Axel

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Simple multiplexed PCR-based barcoding of DNA for ultrasensitive mutation detection by next-generation sequencing von Ståhlberg, Anders, Krzyzanowski, Paul M, Egyud, Matthew, Filges, Stefan, Stein, Lincoln, Godfrey, Tony E

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

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CUGC for Stromme syndrome and CENPF-related disorders von Filges, Isabel, Stromme, Petter

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Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries von 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

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Impact of Polymerase Fidelity on Background Error Rates in Next-Generation Sequencing with Unique Molecular Identifiers/Barcodes von Filges, Stefan, Yamada, Emiko, Ståhlberg, Anders, Godfrey, Tony E.

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Gene Ontology Enrichment Analysis of Renal Agenesis: Improving Prenatal Molecular Diagnosis von Kalantari, Silvia, Filges, Isabel

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Marianne Mathys, Architekturstiftungen und Ehrenstatuen. Untersuchungen zur visuellen Repräsentation der Oberschicht im späthellenistischen und kaiserzeitlichen Pergamon, Darmstadt... von Filges, Axel

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Recurrent promoter mutations in melanoma are defined by an extended context-specific mutational signature von Fredriksson, Nils Johan, Elliott, Kerryn, Filges, Stefan, Van den Eynden, Jimmy, Ståhlberg, Anders, Larsson, Erik

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Elevated pyrimidine dimer formation at distinct genomic bases underlies promoter mutation hotspots in UV-exposed cancers von Elliott, Kerryn, Boström, Martin, Filges, Stefan, Lindberg, Markus, Van den Eynden, Jimmy, Ståhlberg, Anders, Clausen, Anders R, Larsson, Erik

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