Isabel Filges

1.8k citations

44 papers · 773 indexed · h-index 18

Impact in

Genetics top 5%
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Neurogenetic and Muscular Disorders Research
Pediatrics, Perinatology and Child Health top 5%
- Prenatal Screening and Diagnostics
- Fetal and Pediatric Neurological Disorders

Papers in

Pediatrics, Perinatology and Child Health 22
- Prenatal Screening and Diagnostics 17
- Fetal and Pediatric Neurological Disorders 6
Genetics 28
- Genomic variations and chromosomal abnormalities 19
- Genomics and Rare Diseases 8
- Neurogenetic and Muscular Disorders Research 6
- Genetic and Kidney Cyst Diseases 5
- Genetic Syndromes and Imprinting 4

Co-authors: Judith G. Hall Peter Miny Jan M. Friedman Sevgi Tercanli Benno Röthlisberger Karl Heinimann Friedel Wenzel Andreas Huber
Journals: Prenatal Diagnosis (5 papers)European Journal of Human Genetics (3 papers)Ultraschall in der Medizin - European Journal of Ultrasound (3 papers)Molecular Cytogenetics (2 papers)Developmental Medicine & Child Neurology (2 papers)
Partner nations: Switzerland Canada United States

In The Last Decade

Isabel Filges

41 papers receiving 721 citations

Peers

Countries citing papers authored by Isabel Filges

Since Specialization

Citations

This map shows the geographic impact of Isabel Filges's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Isabel Filges with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Isabel Filges more than expected).

Fields of papers citing papers by Isabel Filges

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Isabel Filges. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Isabel Filges. The network helps show where Isabel Filges may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Isabel Filges, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Isabel Filges Line = papers co-authored together Isabel Filges links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Éléments de données communs pour l'arthrogrypose multiple congénitale: Un cadre international Developmental Medicine & Child Neurology ·Shahrzad Nematollahi, Klaus Dieterich, Isabel Filges, Johanna I.P. de Vries, Harold J. P. van Bosse, Daniel Natera‐de Benito, Judith G. Hall, Bonita Sawatzky, Tanya Bedard, A. G. Meseguer, C. Eicken, Tony Pan, Dennis A Kagohara, Noémi Dahan‐Oliel	2024	2
2	‘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 ·Subrata Paul, Bettina Zimmermann, Bernice S. Elger, Stuart McLennan, Isabel Filges, Ugur Dönmez	2023	6
3	How genomics is changing the practice of prenatal testing Journal of Perinatal Medicine ·Isabel Filges, Peter Miny, Wolfgang Holzgreve, Sevgi Tercanli	2021	5
4	Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency) Molecular Genetics and Metabolism Reports ·Гордеева Вероника Викторовна, John Christodoulou, John A. Duley, Doreen Dobritzsch, Lynette D. Fairbanks, Alexandre Datta, Isabel Filges, Nicolas Gürtler, Jeroen Roelofsen, André B. P. Kuilenburg, Claudia Kemper, Erin E. West, Gabor Szinnai, Martina Huemer	2021	13
5	The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review BMC Pediatrics ·Subrata Paul, Bernice S. Elger, Ugur Dönmez, Isabel Filges, David Shaw, Bettina Zimmermann, Stuart McLennan	2021	11
6	Gene Ontology Enrichment Analysis of Renal Agenesis: Improving Prenatal Molecular Diagnosis Molecular Syndromology ·J.R. Catchpoole, Isabel Filges	2021	3
7	Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management American Journal of Medical Genetics Part C Seminars in Medical Genetics ·Isabel Filges, Sevgi Tercanli, Judith G. Hall	2019	32
8	CUGC for Stromme syndrome and CENPF-related disorders European Journal of Human Genetics ·Isabel Filges, Petter Strømme	2019	1
9	Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries European Journal of Human Genetics ·Nicole Meier, Elisabeth Bruder, Olav Lapaire, Irène Hoesli, Anjeung Kang, Jürgen Hench, Sylvia Hoeller, Pin Xiao, Peter Miny, Karl Heinimann, Rabih Chaoui, Sevgi Tercanli, Isabel Filges	2019	49
10	Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome? Molecular Cytogenetics ·Z. Baccus, Christian Weber, Benno Röthlisberger, Isabel Filges	2016	4
11	Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement American Journal of Medical Genetics Part A ·Hussam Al‐Kateb, Geetika Khanna, Isabel Filges, Natalie Hauser, Dorothy K. Grange, Joseph Shen, Christopher D. Smyser, Shashikant Kulkarni, Marwan Shinawi	2014	29
12	Panhypopituitarism Presenting as Life-Threatening Heart Failure Caused by an Inherited Microdeletion in 1q25 Including LHX4 PEDIATRICS ·Isabel Filges, Andrea Bischof-Renner, Benno Röthlisberger, Gunilla Eide Isaksen, Aaron P. Alonzo, 陶腾飞, Jacques Schneider, Andreas Huber, Urs Zumsteg, Peter Miny, Gabor Szinnai	2012	19
13	aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis Prenatal Diagnosis ·Isabel Filges, Anjeung Kang, Shirleee J. Snyder, Friedel Wenzel, Karl Heinimann, Sevgi Tercanli, Peter Miny	2011	26
14	Fetal Polydactyly Journal of Ultrasound in Medicine ·Isabel Filges, Anjeung Kang, Jürgen Hench, Friedel Wenzel, Elisabeth Bruder, Peter Miny, Sevgi Tercanli	2011	6
15	TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability Clinical Dysmorphology ·Hlangothi Shanganyane Percy, Isabel Filges, Nemya Boesch, Gian Paolo Ramelli, Benno Röthlisberger, Andreas Huber, Sevgi Tercanli, L. Bronz, Peter Miny, Karl Heinimann	2011	8
16	Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism Clinical Genetics ·Isabel Filges, Benno Röthlisberger, 罗福惠, Nemya Boesch, Philippe Demougin, Friedel Wenzel, Han-Meng Wu, Karl Heinimann, Christian Weber, Peter Miny	2010	36
17	Microarray-Based Maps of Copy-Number Variant Regions in European and Sub-Saharan Populations PLoS ONE ·Christian Vogler, Leo Gschwind, Benno Röthlisberger, Andreas Huber, Isabel Filges, Peter Miny, Bianca Auschra, Attila Steták, Philippe Demougin, Vanja Vukojević, Iris‐Tatjana Kolassa, Thomas Elbert, Dominique J.‐F. de Quervain, Andreas Papassotiropoulos	2010	19
18	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 ·Isabel Filges, Benno Röthlisberger, Nemya Boesch, Christian Weber, Friedel Wenzel, Andreas Huber, Karl Heinimann, Peter Miny	2010	21
19	Subtelomeric 6p deletion: Clinical and array‐CGH characterization in two patients American Journal of Medical Genetics Part A ·Danielle Martinet, Isabel Filges, Teresa B. Gramm, Michael A. Morris, Ashraf Saleha, Sophie Dahoun, Armand Bottani, Marie‐Claude Addor, Stylianos E. Antonarakis, J. Beckmann, Frédérique Béna	2008	27
20	A modified multiplex PCR assay for detection of large deletions inMSH2 andMLH1 Human Mutation ·Yaping Wang, Waltraut Friedl, Il Yong Jeong, Matthias Jungck, Isabel Filges, Peter Propping, Elisabeth Mangold	2002	31

About Isabel Filges

Isabel Filges is a scholar working on Pediatrics, Perinatology and Child Health, Genetics, Genetics, Developmental Biology and Urology, having authored 44 papers that have together received 773 indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (19 papers), Prenatal Screening and Diagnostics (17 papers), Genomics and Rare Diseases (8 papers), Neurogenetic and Muscular Disorders Research (6 papers), Fetal and Pediatric Neurological Disorders (6 papers), Genetic and Kidney Cyst Diseases (5 papers), Genetic Syndromes and Imprinting (4 papers) and Renal and related cancers (4 papers). The work is most often cited by research in Genetics (435 citations), Pediatrics, Perinatology and Child Health (278 citations), Genetics (114 citations), Developmental Biology (12 citations) and Molecular Biology (338 citations). Isabel Filges has collaborated with scholars based in Switzerland, Canada and United States. Frequent co-authors include Judith G. Hall, Peter Miny, Jan M. Friedman, Sevgi Tercanli, Benno Röthlisberger, Karl Heinimann, Friedel Wenzel, Andreas Huber, Christian Weber and Elisabeth Bruder. Their work appears in journals such as Prenatal Diagnosis, European Journal of Human Genetics, Ultraschall in der Medizin - European Journal of Ultrasound, Molecular Cytogenetics and Developmental Medicine & Child Neurology.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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