[FG] Filges Isabel

Kraemer, D. et al. (2024) ‘SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland’, Journal of Personalized Medicine, 14(6), p. 648. Available at: https://doi.org/10.3390/jpm14060648.

Nematollahi, Shahrzad et al. (2024) ‘Common data elements for arthrogryposis multiplex congenita: An international framework’, Developmental Medicine and Child Neurology [Preprint]. Available at: https://doi.org/10.1111/dmcn.15898.

Nematollahi, S. et al. (2024) ‘Éléments de données communs pour l’arthrogrypose multiple congénitale: Un cadre international’, Developmental Medicine and Child Neurology [Preprint]. Available at: https://doi.org/10.1111/dmcn.15915.

Nematollahi, S. et al. (2024) ‘Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional’, Developmental Medicine and Child Neurology [Preprint]. Available at: https://doi.org/10.1111/dmcn.15914.

Filges I et al. (2023) ‘Fetal arthrogryposis-what do we tell the prospective parents?’, Prenatal diagnosis, 43(6), pp. 798–805. Available at: https://doi.org/10.1002/pd.6299.

Kraemer, D. et al. (2023) ‘SwissGenVar : A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland’. Cold Spring Harbor Laboratory. Available at: https://doi.org/10.1101/2023.01.11.22283790.

Tercanli, Sevgi and Filges, Isabel (2023) ‘Fetal hyperechogenic kidneys: the significance of family assessment’, Ultraschall in der Medizin, 44, p. 8. Available at: https://doi.org/10.1055/a-1985-4319.

Dhombres F 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), pp. 231–242. Available at: https://doi.org/10.1002/ajmg.c.31989.

Filges I (2022) ‘Genetische Entwicklungsanomalien – Transition am Beispiel des Down Syndroms’, in Peter Weber (ed.) Transition bei neurologischen Erkrankungen. (Transition bei neurologischen Erkrankungen).

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

Isabel Filges et al. (2022) ‘Genetische Beratung: Konzepte, Missverständnisse, Perspektiven’, Schweizerische Ärztezeitung [Preprint], (2022;103(4950):34-36).

Manegold-Brauer G et al. (2022) ‘Anwendung genetischer Untersuchungen in der Pränataldiagnostik’, in Hösli; Kaisenberg (ed.) Die Geburtshilfe. (Die Geburtshilfe).

Kalantari S. et al. (2021) ‘Expanding the KIF4A-associated phenotype’, American Journal of Medical Genetics, Part A, 185(12), pp. 3728–3739. Available at: https://doi.org/10.1002/ajmg.a.62443.

Filges I et al. (2021) ‘How genomics is changing the practice of prenatal testing.’, Journal of perinatal medicine, 49(8), pp. 1003–1010. Available at: https://doi.org/10.1515/jpm-2021-0220.

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

Elsner J. et al. (2021) ‘Genome sequencing in families with congenital limb malformations’, Human Genetics, 140(8), pp. 1229–1239. Available at: https://doi.org/10.1007/s00439-021-02295-y.

Lenherr N. et al. (2021) ‘Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency).’, 26. Available at: https://doi.org/10.1016/j.ymgmr.2021.100709.

Eichinger, Johanna et al. (2021) ‘The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review’, BMC Pediatrics, 21. Available at: https://doi.org/10.1186/s12887-021-02830-w.

Filges I (2021) ‘Schwangerschaftsvorsorge als personalisierte Medizin Genetische Beratung bei Schwangeren’, info@gynäkologie. August 2021, 11(4), p. 2.

Grigioni G. et al. (2020) ‘Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report’, Case Reports in Neurology, 12(3), pp. 466–471. Available at: https://doi.org/10.1159/000511954.

Kalantari S and Filges I (2020) ‘“Kinesinopathies”: emerging role of the kinesin family member genes in birth defects.’, Journal of medical genetics, 57(12), pp. 797–807. Available at: https://doi.org/10.1136/jmedgenet-2019-106769.

Siebert, R. et al. (2020) ‘Tried and tested - and yet (almost) brand new Altbewährt - Und dennoch (fast) ganz neu’, Medizinische Genetik, 32(1), pp. 1–2. Available at: https://doi.org/10.1515/medgen-2020-2014.

Egger S. et al. (2020) ‘Erroneous sex typing due to partial deletion of the Y chromosome Fehlerhafte Geschlechtsbestimmung aufgrund partieller Deletion des Y-Chromosoms’, Rechtsmedizin, 30(2), pp. 94–100. Available at: https://doi.org/10.1007/s00194-020-00373-5.

Meier N et al. (2020) ‘Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly.’, Molecular genetics & genomic medicine, 8(4), p. e1178. Available at: https://doi.org/10.1002/mgg3.1178.

Filges I and Stromme P (2020) ‘CUGC for Stromme syndrome and CENPF-related disorders.’, European journal of human genetics : EJHG, 28(1), pp. 132–136. Available at: https://doi.org/10.1038/s41431-019-0498-y.

Filges I et al. (2020) ‘Dual independent genetic etiologies in a lethal complex malformation phenotype’, Ultraschall in der Medizin, 41, pp. 112–114. Available at: https://doi.org/10.1055/a-1104-3625.

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

Wand D. (2020) ‘Overgrowth-a clinical review not only for geneticists’, European journal of human genetics : EJHG, 28, p. 529. Available at: https://doi.org/10.1038/s41431-019-0534-y.

Besnard T. et al. (2019) ‘Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome’, Genetics in Medicine, 21(9), pp. 2025–2035. Available at: https://doi.org/10.1038/s41436-019-0445-x.

Filges I, Tercanli S. and 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), pp. 327–336. Available at: https://doi.org/10.1002/ajmg.c.31723.

Meier N et al. (2019) ‘Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.’, European journal of human genetics : EJHG, 27(5), pp. 730–737. Available at: 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’. WILEY, 179.

Reilly ML 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), pp. 778–795. Available at: https://doi.org/10.1093/hmg/ddy381.

Wand D., Jundt G. and Bruder E. (2019) ‘Vascular lesions of the bone - Pathology and genetics’, Osteologie, 28, pp. 91–97. Available at: https://doi.org/10.1055/a-0832-4827.

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

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

Filges,Isabel et al. (2018) ‘Entwicklung der genetischen und genomischen Medizin in der Schweiz’, Schweizerische Ärztezeitung, 99(42), p. 3.

Filges,Isabel et al. (2018) ‘Exome study in fetuses with severe anomalies: dual role as a discovery and diagnostic tool’, in International Society of Prenatal Diagnosis. Antwerpen (International Society of Prenatal Diagnosis).

Meier,Nicole et al. (2018) ‘PTK7-a candidate gene for a human malformation phenotype’, in European Society of Human Genetics. Mailand (European Society of Human Genetics).

Miny, Peter et al. (2018) ‘Foetal Diagnosis’, eLS John Wiley Sons [Preprint].

Mayer AK et al. (2017) ‘CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.’, Human mutation. 28.08.2017, 38(11), pp. 1579–1591. Available at: https://doi.org/10.1002/humu.23311.

Meier N, Bruder E and Filges I (2017) ‘A novel homozygous splice-site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development.’, 37(7). Available at: https://doi.org/10.1002/pd.5073.

Filges I. and Furlano R.I. (2017) ‘The genetics of ger and gerd’. Springer Berlin Heidelberg, pp. 835–844. Available at: https://doi.org/10.1007/978-3-642-11202-7_71.

Filges I (2017) ‘Gene discovery in lethal foetal disorders’, in John Wiley&Sons (ed.) eLS. (eLS). Available at: https://doi.org/10.1002/9780470015902.a0026660.

Filges, I. and 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. Springer (esophageal and gastric disorders in infancy and childhood), pp. 735–745.

Filges I et al. (2016) ‘Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.’, Human mutation, 37(4), pp. 359–63. Available at: https://doi.org/10.1002/humu.22960.

Silvestri, Valentina et al. (2016) ‘Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2’, BREAST CANCER RESEARCH. WOS.SCI, 18. Available at: https://doi.org/10.1186/s13058-016-0671-y.

D’Angelo D. et al. (2016) ‘Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities’, JAMA Psychiatry, 73(1), pp. 20–30. Available at: https://doi.org/10.1001/jamapsychiatry.2015.2123.

Filges, Isabel et al. (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, p. 711. Available at: https://doi.org/10.1002/humu.22997.

Strunk D et al. (2016) Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?, p. 88. Available at: https://doi.org/10.1186/s13039-016-0299-8.

Brauer,Susanne et al. (2016) Wissen können, dürfen, wollen?: Genetische Untersuchungen während der Schwangerschaft (TA-Swiss). . Translated by vdf Hochschulverlag. vdf Hochschulverlag.

Filges,Isabel (2016) ‘Umbilical Cord and Placenta’, in Oxford University Press, New York. (Oxford University Press, New York), pp. 913–936.

Filges I and Friedman JM (2015) ‘Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes.’, Prenatal diagnosis, 35(10), pp. 1005–9. Available at: https://doi.org/10.1002/pd.4464.

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

Tercanli S and Filges I (2015) ‘An Appeal for Ultrasound and Current Guidelines.’, 36(5). Available at: https://doi.org/10.1055/s-0035-1553777.

Tercanli S, Miny P and 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), pp. 419–20. Available at: https://doi.org/10.1055/s-0035-1552269.

Chaudhry A et al. (2015) ‘Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.’, Clinical genetics. 14.10.2014, 88(3), pp. 224–33. Available at: https://doi.org/10.1111/cge.12482.

Filges I et al. (2015) ‘Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants.’, Molecular human reproduction. 11.12.2014, 21(4), pp. 339–46. Available at: https://doi.org/10.1093/molehr/gau112.

Ehret JK 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, p. 72. Available at: https://doi.org/10.1186/s13039-015-0178-8.

Filges I et al. (2014) ‘Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.’, Clinical genetics, 86(3), pp. 220–8. Available at: https://doi.org/10.1111/cge.12301.

Sousa, S.B. et al. (2014) ‘Phenotype and genotype in Nicolaides-Baraitser syndrome’, American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 166(3), pp. 302–314. Available at: https://doi.org/10.1002/ajmg.c.31409.

Filges I et al. (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. 28.05.2014, 164A(8), pp. 2003–12. Available at: https://doi.org/10.1002/ajmg.a.36605.

Ezgu F et al. (2014) ‘Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.’, Clinical genetics. 30.07.2013, 86(1), pp. 74–84. Available at: https://doi.org/10.1111/cge.12230.

Al-Kateb, Hussam et al. (2014) ‘Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement’, American journal of medical genetics. Part A, 164A(5), pp. 1118–1126. Available at: https://doi.org/10.1002/ajmg.a.36401.

Pietzner, Vera et al. (2014) ‘Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature’, JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. WOS.SCI, 27, pp. 165–170. Available at: https://doi.org/10.1515/jpem-2013-0090.

Schmutzler A.G. et al. (2014) ‘Thefuture of aneuploidy screening. Diagnosis first! Zukunft des aneuploidiescreenings. Priorität diagnostik’, Gynakologe, 47(4), pp. 263–270. Available at: https://doi.org/10.1007/s00129-013-3248-1.

Schmutzler A.G. et al. (2014) ‘Global state of preimplantation genetic diagnosis. Frequency of application and indications Präimplantationsdiagnostik weltweit. Anwendungs- und indikationsfrequenz’, Gynakologe, 47(8), pp. 571–576. Available at: https://doi.org/10.1007/s00129-013-3241-8.

Miny P et al. (2013) ‘Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?’, Microarrays (Basel, Switzerland), 2(4), pp. 304–17. Available at: https://doi.org/10.3390/microarrays2040304.

Krieger M et al. (2013) ‘SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.’, Brain : a journal of neurology. 30.10.2013, 136(Pt 12), pp. 3634–44. Available at: https://doi.org/10.1093/brain/awt283.

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

Filges,Isabel and Miny,Peter (2013) ‘Pränatale Untersuchungsmöglichkeiten an Fruchtwasser, extraembryonalen, embryonalen oder fetalen Geweben’, pp. 550–564.

Miny,Peter and Filges,Isabel (2013) ‘Molekulargenetische Diagnostik in Deutschland, Österreich und der Schweiz’, pp. 565–568.

Miny,Peter and Filges,Isabel (2013) ‘Störungen der Morphogenese’, pp. 569–572.

Filges I and Hall JG (2012) ‘We are failing to identify disorders of fetal movement--why?’, Prenatal diagnosis, 32(10), pp. 919–20. Available at: https://doi.org/10.1002/pd.3944.

Filges I et al. (2012) ‘Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies.’, Molecular cytogenetics. 17.09.2012, 5(1), p. 38. Available at: https://doi.org/10.1186/1755-8166-5-38.

Böhringer, E. et al. (2012) ‘Mosaic ring chromosome 3 in a child with epilepsy and developmental delay’, Neuropediatrics, 43(02). Available at: https://doi.org/10.1055/s-0032-1307093.

Sidler JA et al. (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), pp. 87–90. Available at: https://doi.org/10.1097/mcd.0b013e32834e9248.

Filges I et al. (2012) ‘High resolution array in the clinical approach to chromosomal phenotypes.’, Gene. 03.01.2012, 495(2), pp. 163–9. Available at: https://doi.org/10.1016/j.gene.2011.12.042.

Van Houdt JK et al. (2012) ‘Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.’, Nature genetics. 26.02.2012, 44(4), pp. 445–9, S1. Available at: https://doi.org/10.1038/ng.1105.

Filges I et al. (2012) ‘Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4.’, Pediatrics. 09.01.2012, 129(2), pp. e529–34. Available at: https://doi.org/10.1542/peds.2010-3849.

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

Filges I et al. (2011) ‘Fetal polydactyly: a study of 24 cases ascertained by prenatal sonography.’, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine, 30(7), pp. 1021–9. Available at: https://doi.org/10.7863/jum.2011.30.7.1021.

Filges I et al. (2011) ‘Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.’, Clinical genetics, 79(1), pp. 79–85. Available at: https://doi.org/10.1111/j.1399-0004.2010.01590.x.

Filges, Isabel et al. (2011) ‘aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis’, Prenatal diagnosis, 31(5), pp. 473–8. Available at: https://doi.org/10.1002/pd.2721.

Filges, Isabel et al. (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), pp. 851–855. Available at: https://doi.org/10.1016/j.fertnstert.2011.07.1137.

Filges, Isabel et al. (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), pp. 117–22. Available at: https://doi.org/10.1136/jmg.2010.084582.

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

Filges, Isabel et al. (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), pp. 987–93. Available at: https://doi.org/10.1002/ajmg.a.33330.

Vogler, Christian et al. (2010) ‘Microarray-based maps of copy-number variant regions in European and sub-saharan populations’, PLoS ONE, 5(12), p. e15246. Available at: https://doi.org/10.1371/journal.pone.0015246.

Filges,Isabel et al. (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), pp. 237–241. Available at: https://doi.org/10.1002/ajmg.a.32622.

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

Martinet D et al. (2008) ‘Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.’, American journal of medical genetics. Part A, 146A(16), pp. 2094–102. Available at: https://doi.org/10.1002/ajmg.a.32414.

Filges, Isabel et al. (2008) ‘Mosaic ring chromosome 8 : clinical and array-CGH findings in partial trisomy 8’, American journal of medical genetics. Part A, 146A(21), pp. 2837–41. Available at: https://doi.org/10.1002/ajmg.a.32520.

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

Filges I et al. (2005) ‘[Present chemoprevention and future vision].’, Revue medicale suisse, 1(20), pp. 1343–6, 1349.

Wang Y et al. (2002) ‘A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1.’, 19(3). Available at: https://doi.org/10.1002/humu.10042.