Isabel Filges

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 10

Top Topics

Gestational Age

Genome Wide Analysis

Top Venues

Journal of personalized medicine

American journal of medical genetics. Part C, Seminars in medical genetics

Prenatal diagnosis

Molecular genetics & genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz, Christiane Zweier, Marc Abramowicz, Wolfgang Berger, Sven Cichon, André Schaller, Andrea Superti-Furga, Valérie Barbié, Anita Rauch
SwissGenVar : A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland. Journal of personalized medicine 14 (6) (2024)
Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz, Christiane Zweier, Marc Abramowicz, Wolfgang Berger, Sven Cichon, André Schaller, Andrea Superti-Furga, Valérie Barbié, Anita Rauch
SwissGenVar : A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland. Journal of personalized medicine 14 (6) (2024)
Isabel Filges, Stephanie Jünemann, Elke Viehweger, Sevgi Tercanli
Fetal arthrogryposis-what do we tell the prospective parents? Prenatal diagnosis (2023)
Isabel Filges, Stephanie Jünemann, Elke Viehweger, Sevgi Tercanli
Fetal arthrogryposis- what do we tell the prospective parents? Prenatal diagnosis (2023)
Ferdinand Dhombres, Patricia Morgan, Bimal P Chaudhari, Isabel Filges, Teresa N Sparks, Pablo Lapunzina, Tony Roscioli, Umber Agarwal, Shagun Aggarwal, Claire Beneteau, Pilar Cacheiro, Leigh C Carmody, Sophie Collardeau-Frachon, Esther A Dempsey, Andreas Dufke, Michael Henri Duyzend, Mirna El Ghosh, Jessica L Giordano, Ragnhild Glad, Ieva Grinfelde, Dominic G Iliescu, Markus S Ladewig, Monica C Munoz-Torres, Marzia Pollazzon, Francesca Clementina Radio, Carlota Rodo, Raquel Gouveia Silva, Damian Smedley, Jagadish Chandrabose Sundaramurthi, Sabrina Toro, Irene Valenzuela, Nicole A Vasilevsky, Ronald J Wapner, Roni Zemet, Melissa A Haendel, Peter Nick Robinson
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology. American journal of medical genetics. Part C, Seminars in medical genetics 190 (2) (2022)
Silvia Kalantari, Colleen M Carlston, Norah S Alsaleh, Ghada M H Abdel-Salam, Fowzan Sami Alkuraya, Mitsuhiro Kato, Naomichi Matsumoto, Satoko Miyatake, Tatsuya Yamamoto, Lucas Fares-Taie, Jean-Michel Rozet, Nicolas Chassaing, Catherine Vincent-Delorme, Anjeung Kang-Bellin, Kirsty McWalter, Caleb P Bupp, Emily Palen, Monisa D Wagner, Marcello Niceta, Claudia Cesario, Roberta Milone, Julie Kaplan, Erin Wadman, William B Dobyns, Isabel Filges
Expanding the KIF4A-associated phenotype. American journal of medical genetics. Part A 185 (12) (2021)
Silvia Kalantari, Isabel Filges
'Kinesinopathies': emerging role of the kinesin family member genes in birth defects. Journal of medical genetics 57 (12) (2020)
Nicole Meier, Elisabeth Bruder, Peter Miny, Sevgi Tercanli, Isabel Filges
Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly. Molecular genetics & genomic medicine 8 (4) (2020)
Isabel Filges, Petter Stromme
CUGC for Stromme syndrome and CENPF-related disorders. European journal of human genetics : EJHG 28 (1) (2019)
Isabel Filges, Sevgi Tercanli, Judith G Hall
Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management. American journal of medical genetics. Part C, Seminars in medical genetics 181 (3) (2019)