Prof. Dr. med. Isabel Filges

Vulto-van Silfhout, Anneke T., Jazet, Ingrid M., Yzer, Suzanne, Pas, Jeroen, Demirdas, Serwet, van Rossum, Elisabeth F.C., Thiadens, Alberta A.H.J., van Beek, Ronald, Haer-Wigman, Lonneke, Barge-Schaapveld, Daniela Q.C.M., Brasch-Andersen, Charlotte, Frost, Simon, Bauwens, Miriam, De Baere, Elfride, Balikova, Irina, Van den Broeck, Filip, Weisz-Hubshman, Monika, Joset, Pascal, Miny, Peter, et al. (2025). Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy. Genetics in Medicine, 27. https://doi.org/10.1016/j.gim.2025.101513

Tercanli, Sevgi, Filges, Isabel, Miny, Peter, Reutter, Heiko M., & Gembruch, Ulrich. (2025). Chromosomale und nicht chromosomale Felbildungsssyndrome. In Ultraschalldiagnostik in Geburtshilfe und Gynäkologie.

Eichinger, J., Elger, B. S., McLennan, S., Filges, I., & Koné, I. (2024). Attitudes Towards Non-directiveness Among Medical Geneticists in Germany and Switzerland [Journal-article]. Journal of Bioethical Inquiry, 21(4), 711–722. https://doi.org/10.1007/s11673-024-10355-x

Nematollahi, Shahrzad, Dieterich, Klaus, Filges, Isabel, De Vries, Johanna I. P., Van Bosse, Harold, Benito, Daniel Natera-De, Hall, Judith G., Sawatzky, Bonita, Bedard, Tanya, Sanchez, Victoria Castillo, Navalon-Martinez, Carolina, Pan, Tony, Hilton, Coleman, & Dahan-Oliel, Noémi. (2024). Common data elements for arthrogryposis multiplex congenita: An international framework. Developmental Medicine and Child Neurology, 66(10), 1340–1347. https://doi.org/10.1111/dmcn.15898

Nematollahi, S., Dieterich, K., Filges, I., De Vries, J. I. P., Van Bosse, H., Natera de Benito, D., Hall, J. G., Sawatzky, B., Bedard, T., Sanchez, V. C., Navalon-Martinez, C., Pan, T., Hilton, C., & Dahan-Oliel, N. (2024). Éléments de données communs pour l’arthrogrypose multiple congénitale: Un cadre international. Developmental Medicine and Child Neurology, 66(10), e200–e207. https://doi.org/10.1111/dmcn.15915

Nematollahi, S., Dieterich, K., Filges, I., De Vries, J. I. P., Van Bosse, H., Natera de Benito, D., Hall, J. G., Sawatzky, B., Bedard, T., Sanchez, V. C., Navalon-Martinez, C., Pan, T., Hilton, C., & Dahan-Oliel, N. (2024). Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional. Developmental Medicine and Child Neurology, 66(10), e192–e199. https://doi.org/10.1111/dmcn.15914

Kraemer, D., Terumalai, D., Famiglietti, M. L., Filges, I., Joset, P., Koller, S., Maurer, F., Meier, S., Nouspikel, T., Sanz, J., Zweier, C., Abramowicz, M., Berger, W., Cichon, S., Schaller, A., Superti-Furga, A., Barbié, V., & Rauch, A. (2024). SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland [Journal-article]. Journal of Personalized Medicine, 14(6), 648. https://doi.org/10.3390/jpm14060648

Manegold-Brauer, Gwendolin, Lapaire, Olav, Hösli-Krais, Irene, & Filges, Isabel. (2024). Anwendung genetischer Untersuchungen in der Pränataldiagnostik. In Springer Reference Medizin (pp. 167–184). https://doi.org/10.1007/978-3-662-63506-3_7

Eichinger J, Zimmermann B, Elger B, McLennan S, Filges I, & Koné I. (2023). ‘It’s a nightmare’: informed consent in paediatric genome-wide sequencing. A qualitative expert interview study from Germany and Switzerland. European Journal of Human Genetics, 31(12), 1398–1406. https://doi.org/10.1038/s41431-023-01468-9

Filges I, Jünemann S, Viehweger E, & Tercanli S. (2023). Fetal arthrogryposis—what do we tell the prospective parents? Prenatal Diagnosis, 43(6), 798–805. https://doi.org/10.1002/pd.6299

Tercanli, Sevgi, & Filges, Isabel. (2023). Fetal hyperechogenic kidneys: the significance of family assessment. Ultraschall in Der Medizin, 44(1), 8. https://doi.org/10.1055/a-1985-4319

Kraemer, D., Terumalai, D., Famiglietti, M. L., Filges, I., Joset, P., Koller, S., Maurer, F., Meier, S., Nouspikel, T., Sanz, J., Zweier, C., Abramowicz, M., Berger, W., Cichon, S., Schaller, A., Superti-Furga, A., Barbié, V., & Rauch, A. (2023). SwissGenVar : A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland [Posted-content]. Cold Spring Harbor Laboratory. https://doi.org/10.1101/2023.01.11.22283790

Eichinger, Johanna, Dupont, Anne-Sylvie, McLennan, Stuart, Filges, Isabel, Koné, Insa, & Elger, Bernice Simone. (2023). «Every diagnosis is actionable.» - Reimbursement of paediatric exome sequencing. A qualitative expert interview study from Germany and Switzerland. Jusletter, 28. August 2023, 1–26. https://doi.org/10.38023/0b3ef47c-978c-4321-a933-04dd49ef1080

Filges I. (2022). Genetik in der Schwangerenvorsorge- was muss immer angesprochen werden ? Leading Opinions Gynäkologie & Geburtshilfe , 3/2022.

Isabel Filges, Sven Cichon, Thierry Nouspikel, Naomi Porret, Anita Rauch, & Sheila Unger. (2022). Genetische Beratung: Konzepte, Missverständnisse, Perspektiven. Schweizerische Ärztezeitung, 2022;103(4950):34-36.

Manegold-Brauer G, Lapaire O., Hösli I, & Filges I. (2022). Anwendung genetischer Untersuchungen in der Pränataldiagnostik. In Hösli; Kaisenberg (Ed.), Die Geburtshilfe.

Dhombres F, Morgan P, Chaudhari BP, Filges I, Sparks TN, Lapunzina P, Roscioli T, Agarwal U, Aggarwal S, Beneteau C, Cacheiro P, Carmody LC, Collardeau-Frachon S, Dempsey EA, Dufke A, Duyzend MH, El Ghosh M, Giordano JL, Glad R, et al. (2022). Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 190(2), 231–242. https://doi.org/10.1002/ajmg.c.31989

Filges I. (2021). Schwangerschaftsvorsorge als personalisierte Medizin Genetische Beratung bei Schwangeren. Info@Gynäkologie, 11(4), 2.

Eichinger, Johanna, Elger, Bernice S., Koné, Insa, Filges, Isabel, Shaw, David, Zimmermann, Bettina, & McLennan, Stuart. (2021). The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review. BMC Pediatrics, 21(1). https://doi.org/10.1186/s12887-021-02830-w

Kalantari S., Carlston C., Alsaleh N., Abdel-Salam G.M.H., Alkuraya F., Kato M., Matsumoto N., Miyatake S., Yamamoto T., Fares-Taie L., Rozet J.-M., Chassaing N., Vincent-Delorme C., Kang-Bellin A., McWalter K., Bupp C., Palen E., Wagner M.D., Niceta M., et al. (2021). Expanding the KIF4A-associated phenotype. American Journal of Medical Genetics, Part A, 185(12), 3728–3739. https://doi.org/10.1002/ajmg.a.62443

Filges I, Miny P, Holzgreve W, & Tercanli S. (2021). How genomics is changing the practice of prenatal testing. Journal of Perinatal Medicine, 49(8), 1003–1010. https://doi.org/10.1515/jpm-2021-0220

Kalantari S., & Filges I. (2021). Gene Ontology Enrichment Analysis of Renal Agenesis: Improving Prenatal Molecular Diagnosis. Molecular Syndromology, 12(6), 362–371. https://doi.org/10.1159/000518115

Elsner J., Mensah M.A., Holtgrewe M., Hertzberg J., Bigoni S., Busche A., Coutelier M., de Silva D.C., Elcioglu N., Filges I., Gerkes E., Girisha K.M., Graul-Neumann L., Jamsheer A., Krawitz P., Kurth I., Markus S., Megarbane A., Reis A., et al. (2021). Genome sequencing in families with congenital limb malformations. Human Genetics, 140(8), 1229–1239. https://doi.org/10.1007/s00439-021-02295-y

Lenherr N., Christodoulou J., Duley J., Dobritzsch D, Fairbanks L., Datta AN, Filges I., Gürtler N, Roelofsen J., van Kuilenburg A.B.P., Kemper C., West EE, Szinnai G, & Huemer M. (2021). Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency) [Elsevier Inc.]. Molecular Genetics and Metabolism Reports, 26, 100709. https://doi.org/10.1016/j.ymgmr.2021.100709

Eichinger, Johanna, Elger, Bernice S, Koné, Insa, Filges, Isabel, Shaw, David, Zimmermann, Bettina, & McLennan, Stuart. (2021). The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review. BMC Pediatrics, 21(1), 387. https://doi.org/10.1186/s12887-021-02830-w

Silvia Kalantari, & Isabel Filges. (2020). Gene onotolgy enrichment analysis of congenital renal agenesis-associated genes. European Human Genetics Virtual Conference, ESHG 2020.2.

Kalantari S, & Filges I. (2020). ‘Kinesinopathies’: Emerging role of the kinesin family member genes in birth defects. Journal of Medical Genetics, 57(12), 797–807. https://doi.org/10.1136/jmedgenet-2019-106769

Siebert, R., Scholz, C., Zschocke, J., Filges, I., & Porret, N. (2020). Tried and tested - and yet (almost) brand new Altbewährt - Und dennoch (fast) ganz neu. Medizinische Genetik, 32(1), 1–2. https://doi.org/10.1515/medgen-2020-2014

Meier, Nicole, Bruder, Elisabeth, Miny, Peter, Tercanli, Sevgi, & Filges, Isabel. (2020). Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly. Molecular Genetics and Genomic Medicine, 8(4). https://doi.org/10.1002/mgg3.1178

Filges, Isabel, Genewein, Agnes, Weber, Peter, Meier, Stephanie, Deigendesch, Nikolaus, Bruder, Elisabeth, Prüfer, Friederike, & Tercanli, Sevgi. (2020). Dual independent genetic etiologies in a lethal complex malformation phenotype. Ultraschall in Der Medizin, 41, 112–114. https://doi.org/10.1055/a-1104-3625

Filges I, & Stromme P. (2020). CUGC for Stromme syndrome and CENPF-related disorders. European Journal of Human Genetics, 28(1), 132–136. https://doi.org/10.1038/s41431-019-0498-y

Filges I, Tercanli S., & Hall J.G. (2019). Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 181(3), 327–336. https://doi.org/10.1002/ajmg.c.31723

Meier, Nicole, Bruder, Elisabeth, Lapaire, Olav, Lapaire, Olav, Hoesli, Irene, Kang, Anjeung, Hench, Jürgen, Hoeller, Sylvia, De Geyter, Julie, Miny, Peter, Heinimann, Karl, Chaoui, Rabih, Tercanli, Sevgi, & Filges, Isabel. (2019). Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries. European Journal of Human Genetics, 27(5), 730–737. https://doi.org/10.1038/s41431-018-0324-y

Filges, I. (2019). EXPANDING THE PHENOTYPIC SPECTRUM OF MUTATIONS IN KIF4A - THE EMERGING IMPORTANCE OF “KINESINOPATHIES” IN FETAL MALFORMATION PHENOTYPES. 179, 726. WILEY.

Reilly ML, Stokman MF, Magry V, Jeanpierre C, Alves M, Paydar M, Hellinga J, Delous M, Pouly D, Failler M, Martinovic J, Loeuillet L, Leroy B, Tantau J, Roume J, Gregory-Evans CY, Shan X, Filges I, Allingham JS, et al. (2019). Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish. Human Molecular Genetics, 28(5), 778–795. https://doi.org/10.1093/hmg/ddy381

Filges,Isabel, Bartholdi,Deborah , Cichon,Sven, Niedrist,Dunja, Porret Naomi, Rauch,Anita, Saller,Elisabeth, von Känel,Thomas, & Fokstuen,Siv. (2018). Entwicklung der genetischen und genomischen Medizin in der Schweiz. Schweizerische Ärztezeitung, 99(42), 3. https://doi.org/10.4414/saez.2018.17185

Filges,Isabel, Meier,Nicole, Lapaire,Olav, Hösli-Krais,Irene Mathilde, Bruder, Elisabeth , & Tercanli,Sevgi. (2018). Exome study in fetuses with severe anomalies: dual role as a discovery and diagnostic tool. International Society of Prenatal Diagnosis.

Meier,Nicole, Bruder,Elisabeth, Lapaire,Olav, Tercanli,Sevgi, & Filges,Isabel. (2018). PTK7-a candidate gene for a human malformation phenotype. European Society of Human Genetics.

Miny, Peter, Filges,Isabel, Tercanli,Sevgi, & Holzgreve,Wolfgang. (2018). Foetal Diagnosis. eLS John Wiley Sons. https://doi.org/10.1002/9780470015902.a0027053

Filges, Isabel. (2018). CELL CYCLE AND CILIOPATHY PATHWAYS - A PHENOTYPE APPROACH TO THE INVESTIGATION OF AUTOSOMAL RECESSIVE INTESTINAL ATRESIA. 176, 1478–1479. WILEY.

De Geyter J., Filges I, & Tercanli S. (2018). A Diagnostic Challenge: Prenatal Ultrasound Findings in Severe Epidermolysis Bullosa. Ultraschall in Der Medizin, 39(6), 600–601. https://doi.org/10.1055/a-0720-8983

Filges I. (2017). Gene discovery in lethal foetal disorders. In John Wiley&Sons (Ed.), eLS. https://doi.org/10.1002/9780470015902.a0026660

Filges, I., & Furlano, R.I. (2017). The Genetics of GER and GERD. In Foker, Till, Holcomb III, Khan, Thomson (Ed.), esophageal and gastric disorders in infancy and childhood (pp. 735–745). Springer.

Meier, Nicole, Bruder, Elisabeth, & Filges, Isabel. (2017). A novel homozygous splice-site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development. Prenatal Diagnosis, 37(7), 720–724. https://doi.org/10.1002/pd.5073

Filges I., & Furlano R.I. (2017). The genetics of ger and gerd. In Esophageal and Gastric Disorders in Infancy and Childhood (pp. 835–844). Springer Berlin Heidelberg. https://doi.org/10.1007/978-3-642-11202-7_71

Brauer,Susanne, Strub,Jean-Daniel, Bleisch,Barbara, Bolliger,Daniel, Büchler,Andrea, Filges,Isabel, MIny,Peter, Sax,Anna, Tercanli,Sevgi, & Zimmermann,Markus. (2016). Wissen können, dürfen, wollen?: Genetische Untersuchungen während der Schwangerschaft (TA-Swiss) (; vdf Hochschulverlag, Trans.). vdf Hochschulverlag. https://doi.org/10.5167/uzh-134176

Filges, Isabel. (2016). Umbilical Cord and Placenta. In Stevenson, Roger E.; Hall, Judith G.; Everman, David B.; Solomon, Bejamin D. (Ed.), Human Malformations and related anomalies (pp. 913–936). Oxford University Press.

Filges,Isabel. (2016). Umbilical Cord and Placenta. In Oxford University Press, New York (Vol. 36, pp. 913–936).

Strunk D, Weber P, Röthlisberger B, & Filges I. (2016). Autism and intellectual disability in a patient with two microdeletions in 6q16: A contiguous gene deletion syndrome? In Molecular Cytogenetics (No. 1; Molecular Cytogenetics, Vol. 9, p. 88). BioMed Central Ltd.info@biomedcentral.com. https://doi.org/10.1186/s13039-016-0299-8

Filges, Isabel, Bruder, Elisabeth, Brandal, Kristin, Meier, Stephanie, Undlien, Dag Erik, Waage, Trine Rygvold, Hoesli, Irene, Schubach, Max, de Beer, Tjaart, Sheng, Ying, Hoeller, Sylvia, Schulzke, Sven, Røsby, Oddveig, Miny, Peter, Tercanli, Sevgi, Oppedal, Truls, Meyer, Peter, Selmer, Kaja Kristine, & Strømme, Petter. (2016). Erratum to: Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF (Human Mutation, 37, 4, (359-363) DOI 10.1002/humu22960). Human Mutation, 37(7), 711. https://doi.org/10.1002/humu.22997

Filges, Isabel, Bruder, Elisabeth, Brandal, Kristin, Meier, Stephanie, Undlien, Dag Erik, Waage, Trine Rygvold, Hoesli, Irene, Schubach, Max, de Beer, Tjaart, Sheng, Ying, Hoeller, Sylvia, Schulzke, Sven, Røsby, Oddveig, Miny, Peter, Tercanli, Sevgi, Oppedal, Truls, Meyer, Peter, Selmer, Kaja Kristine, & Strømme, Petter. (2016). Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Human Mutation, 37(4), 359–363. https://doi.org/10.1002/humu.22960

D’Angelo D., Lebon S., Chen Q., Martin-Brevet S., Snyder L.G., Hippolyte L., Hanson E., Maillard A.M., Faucett W.A., Mace A., Pain A., Bernier R., Chawner S.J.R.A., David A., Andrieux J., Aylward E., Baujat G., Caldeira I., Conus P., et al. (2016). Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities. JAMA Psychiatry, 73(1), 20–30. https://doi.org/10.1001/jamapsychiatry.2015.2123

Filges I, & Friedman JM. (2015). Exome sequencing for gene discovery in lethal fetal disorders - harnessing the value of extreme phenotypes. Prenatal Diagnosis, 35(10), 1005–1009. https://doi.org/10.1002/pd.4464

Filges, I. (2015). Umbilical Cord and Placenta (pp. 913–938). Oxford University Press. https://doi.org/10.1093/med/9780199386031.003.0036

Tercanli S, & Filges I. (2015). An Appeal for Ultrasound and Current Guidelines (Patent No. 5). Ultraschall in der Medizin (Stuttgart, Germany : 1980), 36(5), Article 5. https://doi.org/10.1055/s-0035-1553777

Tercanli S, Miny P, & Filges I. (2015). Increased Fetal Nuchal Translucency - Also a Risk for a Rare Submicroscopic Chromosomal Abnormalities. Ultraschall in der Medizin (Stuttgart, Germany : 1980), 36(5), 419–420. https://doi.org/10.1055/s-0035-1552269

Ehret JK, Engels H, Cremer K, Becker J, Zimmermann JP, Wohlleber E, Grasshoff U, Rossier E, Bonin M, Mangold E, Bevot A, Schön S, Heilmann-Heimbach S, Dennert N, Mathieu-Dramard M, Lacaze E, Plessis G, de Broca A, Jedraszak G, et al. (2015). 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? Molecular Cytogenetics, 8(1), 72. https://doi.org/10.1186/s13039-015-0178-8

Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ, et al. (2015). Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. Clinical Genetics, 88(3), 224–233. https://doi.org/10.1111/cge.12482

Filges, Isabel. (2015, January 1). Genomische Untersuchungen bei Anomalien. Leading Opinions Medizin Für Die Frau, 6–7.

Filges I, Manokhina I, Peñaherrera MS, McFadden DE, Louie K, Nosova E, Friedman JM, & Robinson WP. (2014). Recurrent triploidy due to a failure to complete maternal meiosis II: Wholeexome sequencing reveals candidate variants. Molecular Human Reproduction, 21(4), 339–346. https://doi.org/10.1093/molehr/gau112

Sousa, S. B., Hennekam, R. C., Abdul-Rahman, O., Alders, M., Azzarello-Burri, S., Bottani, A., Bowdin, S., Castori, M., Cormier-Daire, V., Deardorff, M., Del Campo Casanelles, M., Devriendt, K., Fauth, C., Filges, I., Fryer, A., Garavelli, L., Gillessen-Kaesback, G., Hall, B., Hirofumi, O., et al. (2014). Phenotype and genotype in Nicolaides-Baraitser syndrome. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 166(3), 302–314. https://doi.org/10.1002/ajmg.c.31409

Al-Kateb, Hussam, Khanna, Geetika, Filges, Isabel, Hauser, Natalie, Grange, Dorothy K., Shen, Joseph, Smyser, Christopher D., Kulkarni, Shashikant, & Shinawi, Marwan. (2014). Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement. American Journal of Medical Genetics. Part A, 164A(5), 1118–1126. https://doi.org/10.1002/ajmg.a.36401

Filges I, Nosova E, Bruder E, Tercanli S, Townsend K, Gibson WT, Röthlisberger B, Heinimann K, Hall JG, Gregory-Evans CY, Wasserman WW, Miny P, & Friedman JM. (2014). Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. Clinical Genetics, 86(3), 220–228. https://doi.org/10.1111/cge.12301

Filges I, Sparagana S, Sargent M, Selby K, Schlade-Bartusiak K, Lueder GT, Robichaux-Viehoever A, Schlaggar BL, Shimony JS, & Shinawi M. (2014). Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication. American Journal of Medical Genetics, Part A, 164(8), 2003–2012. https://doi.org/10.1002/ajmg.a.36605

Schmutzler A.G., Filges I., Al-Hasani S., Diedrich K., & Miny P. (2014). Thefuture of aneuploidy screening. Diagnosis first! Zukunft des aneuploidiescreenings. Priorität diagnostik. Gynakologe, 47(4), 263–270. https://doi.org/10.1007/s00129-013-3248-1

Schmutzler A.G., Von Otte S., Tobler M., Filges I., Eckmann-Scholz C., & Miny P. (2014). Global state of preimplantation genetic diagnosis. Frequency of application and indications Präimplantationsdiagnostik weltweit. Anwendungs- und indikationsfrequenz. Gynakologe, 47(8), 571–576. https://doi.org/10.1007/s00129-013-3241-8

Filges,Isabel, & Miny,Peter. (2013). Pränatale Untersuchungsmöglichkeiten an Fruchtwasser, extraembryonalen, embryonalen oder fetalen Geweben (Vol. 23, pp. 550–564).

Miny,Peter, & Filges,Isabel. (2013). Molekulargenetische Diagnostik in Deutschland, Österreich und der Schweiz (Vol. 24, pp. 565–568).

Miny,Peter, & Filges,Isabel. (2013). Störungen der Morphogenese (Vol. 25, pp. 569–572).

Miny P, Wenzel F, Tercanli S, & Filges I. (2013). Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy? Microarrays (Basel, Switzerland), 2(4), 17–304. https://doi.org/10.3390/microarrays2040304

Filges I, & Hall JG. (2013). Failure to identify antenatal multiple congenital contractures and fetal akinesia - proposal of guidelines to improve diagnosis. Prenatal Diagnosis, 33(1), 61–74. https://doi.org/10.1002/pd.4011

Filges I, & Hall JG. (2012). We are failing to identify disorders of fetal movement - why? Prenatal Diagnosis, 32(10), 919–920. https://doi.org/10.1002/pd.3944

Filges I, Kang A, Klug V, Wenzel F, Heinimann K, Tercanli S, & Miny P. (2012). Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies. Molecular Cytogenetics, 5(1), 38. https://doi.org/10.1186/1755-8166-5-38

Böhringer, E., Datta, A., Miny, P., & Filges, I. (2012). Mosaic ring chromosome 3 in a child with epilepsy and developmental delay [Journal-article]. Neuropediatrics, 43(02). https://doi.org/10.1055/s-0032-1307093

Sidler JA, Filges I, Boesch N, Ramelli GP, Röthlisberger B, Huber AR, Tercanli S, Bronz L, Miny P, & Heinimann K. (2012). TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability. Clinical Dysmorphology, 21(2), 87–90. https://doi.org/10.1097/mcd.0b013e32834e9248

Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, et al. (2012). Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nature Genetics, 44(4), 445–449. https://doi.org/10.1038/ng.1105

Filges I, Suda L, Weber P, Datta AN, Fischer D, Dill P, Glanzmann R, Benzing J, Hegi L, Wenzel F, Huber AR, Mori AC, Miny P, & Röthlisberger B. (2012). High resolution array in the clinical approach to chromosomal phenotypes. Gene, 495(2), 163–169. https://doi.org/10.1016/j.gene.2011.12.042

Filges I, Bischof-Renner A, Röthlisberger B, Potthoff C, Glanzmann R, Günthard J, Schneider J, Huber AR, Zumsteg U, Miny P, & Szinnai G. (2012). Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4. Pediatrics, 129(2), e529–34. https://doi.org/10.1542/peds.2010-3849

Filges,Isabel Mitautorin. (2011). Genetik im Medizinischen Alltag - ein Leitfaden für die Praxis: Vol. Verschiedene (pp. 1–70).

Filges, I., & Miny, P. (2011). Author’s reply to Toutain’s correspondence. Prenatal Diagnosis, 31(11). https://doi.org/10.1002/pd.2878

Filges I, Kang A, Hench J, Wenzel F, Bruder E, Miny P, & Tercanli S. (2011). Fetal polydactyly: A study of 24 cases ascertained by prenatal sonography. Journal of Ultrasound in Medicine, 30(7), 1021–1029. https://doi.org/10.7863/jum.2011.30.7.1021

Filges I, Röthlisberger B, Blattner A, Boesch N, Demougin P, Wenzel F, Huber AR, Heinimann K, Weber P, & Miny P. (2011). Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. Clinical Genetics, 79(1), 79–85. https://doi.org/10.1111/j.1399-0004.2010.01590.x

Filges, Isabel, Kang, Anjeung, Klug, Vanessa, Wenzel, Friedel, Heinimann, Karl, Tercanli, Sevgi, & Miny, Peter. (2011). aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis. Prenatal Diagnosis, 31(5), 8–473. https://doi.org/10.1002/pd.2721

Filges, Isabel, Kunz, Christophe, Miny, Peter, Boesch, Nemya, Szinnai, Gabor, Wenzel, Friedel, Tschudin, Sibil, Zumsteg, Urs, & Heinimann, Karl. (2011). A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis. Fertility and Sterility, 96(4), 851–855. https://doi.org/10.1016/j.fertnstert.2011.07.1137

Filges, Isabel, Shimojima, Keiko, Okamoto, Nobuhiko, Röthlisberger, Benno, Weber, Peter, Huber, Andreas R, Nishizawa, Tsutomu, Datta, Alexandre N, Miny, Peter, & Yamamoto, Toshiyuki. (2011). Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. Journal of Medical Genetics, 48(2), 22–117. https://doi.org/10.1136/jmg.2010.084582

Filges, Isabel, Röthlisberger, Benno, Boesch, Nemya, Weber, Peter, Wenzel, Friedel, Huber, Andreas R, Heinimann, Karl, & Miny, Peter. (2010). Interstitial deletion 1q42 in a patient with agenesis of corpus callosum : Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome. American Journal of Medical Genetics. Part A, 152A(4), 93–987. https://doi.org/10.1002/ajmg.a.33330

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. (2010). Microarray-based maps of copy-number variant regions in European and sub-saharan populations. PLoS ONE, 5(12), e15246. https://doi.org/10.1371/journal.pone.0015246

Filges,Isabel, & Miny,Peter. (2009). Schweizerische Gesellschaft für Medizinische Genetik SGMG. Schweizerische Ärztezeitung, 90(2), 21–22.

Filges,Isabel, Röthlisberger,Benno, Noppen,Christoph, Boesch,Nemya, Wenzel,Friedel, Necker,Judith, Binkert,Franz, Huber,Andreas R, Heinimann,Karl, & Miny,Peter. (2009). Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33 : clinical and array-CGH study of a benign phenotype in a three-generation family. American Journal of Medical Genetics, 149(2), 237–241. https://doi.org/10.1002/ajmg.a.32622

Martinet D, Filges I, Besuchet Schmutz N, Morris MA, Gaide AC, Dahoun S, Bottani A, Addor MC, Antonarakis SE, Beckmann JS, & Béna F. (2008). Subtelomeric 6p deletion: Clinical and array-CGH characterization in two patients. American Journal of Medical Genetics, Part A, 146(16), 2094–2102. https://doi.org/10.1002/ajmg.a.32414

Filges, Isabel, Röthlisberger, Benno, Wenzel, Friedel, Heinimann, Karl, Huber, Andreas R, & Miny, Peter. (2008). Mosaic ring chromosome 8 : clinical and array-CGH findings in partial trisomy 8. American Journal of Medical Genetics. Part A, 146A(21), 41–2837. https://doi.org/10.1002/ajmg.a.32520

Filges,Isabel, & Morris,Michael A. (2006). Das Schweizer Bundesgesetz über genetische Untersuchungen beim Menschen. 18(3), 226–228.

Filges I, Zaman K, Michielin O, Vulliémoz D, Perey L, & Stupp R. (2005). [Present chemoprevention and future vision]. Revue medicale suisse, 1(20), 1343–1346, 1349.

Wang Y, Friedl W, Sengteller M, Jungck M, Filges I, Propping P, & Mangold E. (2002). A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1 (Patent No. 3). Human Mutation, 19(3), Article 3. https://doi.org/10.1002/humu.10042