Isabel Filges

Affiliations

Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital and University of Basel, Switzerland.

Publications (19)

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency).

Molecular genetics and metabolism reports

Avec: Nina Lenherr , John Christodoulou , John Duley , Doreen Dobritzsch , Lynette Fairbanks , Alexandre N Datta , Isabel Filges , Nicolas Gürtler , Jeroen Roelofsen , André B P van Kuilenburg , Claudia Kemper , Erin E West , Gabor Szinnai , Martina Huemer

Expanding the KIF4A-associated phenotype.

American journal of medical genetics. Part A

Avec: Silvia Kalantari , Colleen Carlston , Norah Alsaleh , Ghada M H Abdel-Salam , Fowzan 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 Bupp , Emily Palen , Monisa D Wagner , Marcello Niceta , Claudia Cesario , Roberta Milone , Julie Kaplan , Erin Wadman , William B Dobyns , Isabel Filges

Journal of personalized medicine

Avec: 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

Attitudes Towards Non-directiveness Among Medical Geneticists in Germany and Switzerland.

Journal of bioethical inquiry

Avec: J Eichinger , B S Elger , S McLennan , I Filges , I Koné

'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 : EJHG

Avec: Johanna Eichinger , Bettina Zimmermann , Bernice Elger , Stuart McLennan , Isabel Filges , Insa Koné

Common data elements for arthrogryposis multiplex congenita: An international framework.

Developmental medicine and child neurology

Avec: Shahrzad Nematollahi , Klaus Dieterich , Isabel Filges , Johanna I P De Vries , Harold Van Bosse , Daniel Natera-De Benito , Judith G Hall , Bonita Sawatzky , Tanya Bedard , Victoria Castillo Sanchez , Carolina Navalon-Martinez , Tony Pan , Coleman Hilton , Noémi Dahan-Oliel

'Kinesinopathies': emerging role of the kinesin family member genes in birth defects.

Journal of medical genetics

Avec: Silvia Kalantari , Isabel Filges

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

European journal of human genetics : EJHG

Avec: Nicole Meier , Elisabeth Bruder , Olav Lapaire , Irene Hoesli , Anjeung Kang , Jürgen Hench , Sylvia Hoeller , Julie De Geyter , Peter Miny , Karl Heinimann , Rabih Chaoui , Sevgi Tercanli , Isabel Filges

CUGC for Stromme syndrome and CENPF-related disorders.

European journal of human genetics : EJHG

Avec: Isabel Filges , Petter Stromme

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.

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

Avec: 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 N Robinson

Fetal arthrogryposis-what do we tell the prospective parents?

Prenatal diagnosis

Avec: Isabel Filges , Stephanie Jünemann , Elke Viehweger , Sevgi Tercanli

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

Human molecular genetics

Avec: Madeline Louise Reilly , Marijn F Stokman , Virginie Magry , Cecile Jeanpierre , Marine Alves , Mohammadjavad Paydar , Jacqueline Hellinga , Marion Delous , Daniel Pouly , Marion Failler , Jelena Martinovic , Laurence Loeuillet , Brigitte Leroy , Julia Tantau , Joelle Roume , Cheryl Y Gregory-Evans , Xianghong Shan , Isabel Filges , John S Allingham , Benjamin H Kwok , Sophie Saunier , Rachel H Giles , Alexandre Benmerah

Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management.

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

Avec: Isabel Filges , Sevgi Tercanli , Judith G Hall

How genomics is changing the practice of prenatal testing.

Journal of perinatal medicine

Avec: Isabel Filges , Peter Miny , Wolfgang Holzgreve , Sevgi Tercanli

Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly.

Molecular genetics & genomic medicine

Avec: Nicole Meier , Elisabeth Bruder , Peter Miny , Sevgi Tercanli , Isabel Filges

Genome sequencing in families with congenital limb malformations.

Human genetics

Avec: Jonas Elsner , Martin A Mensah , Manuel Holtgrewe , Jakob Hertzberg , Stefania Bigoni , Andreas Busche , Marie Coutelier , Deepthi C de Silva , Nursel Elçioglu , Isabel Filges , Erica Gerkes , Katta M Girisha , Luitgard Graul-Neumann , Aleksander Jamsheer , Peter Krawitz , Ingo Kurth , Susanne Markus , Andre Megarbane , André Reis , Miriam S Reuter , Daniel Svoboda , Christopher Teller , Beyhan Tuysuz , Seval Türkmen , Meredith Wilson , Rixa Woitschach , Inga Vater , Almuth Caliebe , Wiebke Hülsemann , Denise Horn , Stefan Mundlos , Malte Spielmann

Gene Ontology Enrichment Analysis of Renal Agenesis: Improving Prenatal Molecular Diagnosis.

Molecular syndromology

Avec: Silvia Kalantari , Isabel Filges

The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review.

BMC pediatrics

Avec: Johanna Eichinger , Bernice S Elger , Insa Koné , Isabel Filges , David Shaw , Bettina Zimmermann , Stuart McLennan

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

bioRxiv : the preprint server for biology

Avec: Neftalí Vazquez , Chanjae Lee , Irene Valenzuela , Thao P Phan , Camille Derderian , Marcelo Chávez , Nancie A Mooney , Janos Demeter , Mohammad Ovais Aziz-Zanjani , Ivon Cusco , Marta Codina , Núria Martínez-Gil , Diana Valverde , Carlos Solarat , Ange-Line Buel , Cristel Thauvin-Robinet , Elisabeth Steichen , Isabel Filges , Pascal Joset , Julie De Geyter , Krishna Vaidyanathan , Tynan Gardner , Michinori Toriyama , Edward M Marcotte , Elle C Roberson , Peter K Jackson , Jeremy F Reiter , Eduardo F Tizzano , John B Wallingford

Réseau de co-auteurs

Sevgi Tercanli 5 collaborations

Silvia Kalantari 3 collaborations

Peter Miny 3 collaborations

Pascal Joset 2 collaborations

Johanna Eichinger 2 collaborations

Bettina Zimmermann 2 collaborations

Stuart McLennan 2 collaborations

Insa Koné 2 collaborations

Judith G Hall 2 collaborations

Nicole Meier 2 collaborations

Elisabeth Bruder 2 collaborations

Julie De Geyter 2 collaborations

Irene Valenzuela 2 collaborations

Nina Lenherr 1 collaboration

John Christodoulou 1 collaboration

John Duley 1 collaboration

Doreen Dobritzsch 1 collaboration

Lynette Fairbanks 1 collaboration

Alexandre N Datta 1 collaboration

Nicolas Gürtler 1 collaboration

Jeroen Roelofsen 1 collaboration

André B P van Kuilenburg 1 collaboration

Claudia Kemper 1 collaboration

Erin E West 1 collaboration

Gabor Szinnai 1 collaboration

Martina Huemer 1 collaboration

Colleen Carlston 1 collaboration

Norah Alsaleh 1 collaboration

Ghada M H Abdel-Salam 1 collaboration

Fowzan Alkuraya 1 collaboration

Mitsuhiro Kato 1 collaboration

Naomichi Matsumoto 1 collaboration

Satoko Miyatake 1 collaboration

Tatsuya Yamamoto 1 collaboration

Lucas Fares-Taie 1 collaboration

Jean-Michel Rozet 1 collaboration

Nicolas Chassaing 1 collaboration

Catherine Vincent-Delorme 1 collaboration

Anjeung Kang-Bellin 1 collaboration

Kirsty McWalter 1 collaboration

Caleb Bupp 1 collaboration

Emily Palen 1 collaboration

Monisa D Wagner 1 collaboration

Marcello Niceta 1 collaboration

Claudia Cesario 1 collaboration

Roberta Milone 1 collaboration

Julie Kaplan 1 collaboration

Erin Wadman 1 collaboration

William B Dobyns 1 collaboration

Dennis Kraemer 1 collaboration

Dillenn Terumalai 1 collaboration

Maria Livia Famiglietti 1 collaboration

Samuel Koller 1 collaboration

Fabienne Maurer 1 collaboration

Stéphanie Meier 1 collaboration

Thierry Nouspikel 1 collaboration

Javier Sanz 1 collaboration

Christiane Zweier 1 collaboration

Marc Abramowicz 1 collaboration

Wolfgang Berger 1 collaboration

Sven Cichon 1 collaboration

André Schaller 1 collaboration

Andrea Superti-Furga 1 collaboration

Valérie Barbié 1 collaboration

Anita Rauch 1 collaboration

J Eichinger 1 collaboration

B S Elger 1 collaboration

S McLennan 1 collaboration

I Filges 1 collaboration

I Koné 1 collaboration

Bernice Elger 1 collaboration

Shahrzad Nematollahi 1 collaboration

Klaus Dieterich 1 collaboration

Johanna I P De Vries 1 collaboration

Harold Van Bosse 1 collaboration

Daniel Natera-De Benito 1 collaboration

Bonita Sawatzky 1 collaboration

Tanya Bedard 1 collaboration

Victoria Castillo Sanchez 1 collaboration

Carolina Navalon-Martinez 1 collaboration

Tony Pan 1 collaboration

Coleman Hilton 1 collaboration

Noémi Dahan-Oliel 1 collaboration

Olav Lapaire 1 collaboration

Irene Hoesli 1 collaboration

Anjeung Kang 1 collaboration

Jürgen Hench 1 collaboration

Sylvia Hoeller 1 collaboration

Karl Heinimann 1 collaboration

Rabih Chaoui 1 collaboration

Petter Stromme 1 collaboration

Ferdinand Dhombres 1 collaboration

Patricia Morgan 1 collaboration

Bimal P Chaudhari 1 collaboration

Teresa N Sparks 1 collaboration

Pablo Lapunzina 1 collaboration

Tony Roscioli 1 collaboration

Umber Agarwal 1 collaboration

Shagun Aggarwal 1 collaboration

Claire Beneteau 1 collaboration

Pilar Cacheiro 1 collaboration

Leigh C Carmody 1 collaboration

Sophie Collardeau-Frachon 1 collaboration

Esther A Dempsey 1 collaboration

Andreas Dufke 1 collaboration

Michael Henri Duyzend 1 collaboration

Mirna El Ghosh 1 collaboration

Jessica L Giordano 1 collaboration

Ragnhild Glad 1 collaboration

Ieva Grinfelde 1 collaboration

Dominic G Iliescu 1 collaboration

Markus S Ladewig 1 collaboration

Monica C Munoz-Torres 1 collaboration

Marzia Pollazzon 1 collaboration

Francesca Clementina Radio 1 collaboration

Carlota Rodo 1 collaboration

Raquel Gouveia Silva 1 collaboration

Damian Smedley 1 collaboration

Jagadish Chandrabose Sundaramurthi 1 collaboration

Sabrina Toro 1 collaboration

Nicole A Vasilevsky 1 collaboration

Ronald J Wapner 1 collaboration

Roni Zemet 1 collaboration

Melissa A Haendel 1 collaboration

Peter N Robinson 1 collaboration

Stephanie Jünemann 1 collaboration

Elke Viehweger 1 collaboration

Madeline Louise Reilly 1 collaboration

Marijn F Stokman 1 collaboration

Virginie Magry 1 collaboration

Cecile Jeanpierre 1 collaboration

Marine Alves 1 collaboration

Mohammadjavad Paydar 1 collaboration

Jacqueline Hellinga 1 collaboration

Marion Delous 1 collaboration

Daniel Pouly 1 collaboration

Marion Failler 1 collaboration

Jelena Martinovic 1 collaboration

Laurence Loeuillet 1 collaboration

Brigitte Leroy 1 collaboration

Julia Tantau 1 collaboration

Joelle Roume 1 collaboration

Cheryl Y Gregory-Evans 1 collaboration

Xianghong Shan 1 collaboration

John S Allingham 1 collaboration

Benjamin H Kwok 1 collaboration

Sophie Saunier 1 collaboration

Rachel H Giles 1 collaboration

Alexandre Benmerah 1 collaboration

Wolfgang Holzgreve 1 collaboration

Jonas Elsner 1 collaboration

Martin A Mensah 1 collaboration

Manuel Holtgrewe 1 collaboration

Jakob Hertzberg 1 collaboration

Stefania Bigoni 1 collaboration

Andreas Busche 1 collaboration

Marie Coutelier 1 collaboration

Deepthi C de Silva 1 collaboration

Nursel Elçioglu 1 collaboration

Erica Gerkes 1 collaboration

Katta M Girisha 1 collaboration

Luitgard Graul-Neumann 1 collaboration

Aleksander Jamsheer 1 collaboration

Peter Krawitz 1 collaboration

Ingo Kurth 1 collaboration

Susanne Markus 1 collaboration

Andre Megarbane 1 collaboration

André Reis 1 collaboration

Miriam S Reuter 1 collaboration

Daniel Svoboda 1 collaboration

Christopher Teller 1 collaboration

Beyhan Tuysuz 1 collaboration

Seval Türkmen 1 collaboration

Meredith Wilson 1 collaboration

Rixa Woitschach 1 collaboration

Inga Vater 1 collaboration

Almuth Caliebe 1 collaboration

Wiebke Hülsemann 1 collaboration

Denise Horn 1 collaboration

Stefan Mundlos 1 collaboration

Malte Spielmann 1 collaboration

Bernice S Elger 1 collaboration

David Shaw 1 collaboration

Neftalí Vazquez 1 collaboration

Chanjae Lee 1 collaboration

Thao P Phan 1 collaboration

Camille Derderian 1 collaboration

Marcelo Chávez 1 collaboration

Nancie A Mooney 1 collaboration

Janos Demeter 1 collaboration

Mohammad Ovais Aziz-Zanjani 1 collaboration

Ivon Cusco 1 collaboration

Marta Codina 1 collaboration

Núria Martínez-Gil 1 collaboration

Diana Valverde 1 collaboration

Carlos Solarat 1 collaboration

Ange-Line Buel 1 collaboration

Cristel Thauvin-Robinet 1 collaboration

Elisabeth Steichen 1 collaboration

Krishna Vaidyanathan 1 collaboration

Tynan Gardner 1 collaboration

Michinori Toriyama 1 collaboration

Edward M Marcotte 1 collaboration

Elle C Roberson 1 collaboration

Peter K Jackson 1 collaboration

Jeremy F Reiter 1 collaboration

Eduardo F Tizzano 1 collaboration

John B Wallingford 1 collaboration