I. Filges

发表

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

W. Wasserman, Judith G Hall, J. Friedman, 2014, Clinical genetics.

Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome

Nobuhiko Okamoto, A. Huber, T. Nishizawa, 2010, Journal of Medical Genetics.

High resolution array in the clinical approach to chromosomal phenotypes.

A. Huber, D. Fischer, P. Miny, 2012, Gene.

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

I. Filges, Silvia Kalantari, 2021, Molecular Syndromology.

Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants.

W. Robinson, M. Peñaherrera, D. McFadden, 2015, Molecular human reproduction.

‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects

I. Filges, Silvia Kalantari, 2020, Journal of Medical Genetics.

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

D. Smedley, F. Dhombres, M. Haendel, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Expanding the spectrum of SMAD3‐related phenotypes to agnathia‐otocephaly

P. Miny, S. Tercanli, E. Bruder, 2020, Molecular genetics & genomic medicine.

Microarray-Based Maps of Copy-Number Variant Regions in European and Sub-Saharan Populations

T. Elbert, D. D. de Quervain, A. Huber, 2010, PloS one.

Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management

S. Tercanli, I. Filges, J. Hall, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

How genomics is changing the practice of prenatal testing

W. Holzgreve, P. Miny, S. Tercanli, 2021, Journal of perinatal medicine.

Dual independent genetic etiologies in a lethal complex malformation phenotype.

F. Prüfer, N. Deigendesch, S. Tercanli, 2020, Ultraschall in der Medizin.

A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1

P. Propping, E. Mangold, W. Friedl, 2002, Human mutation.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

Subtelomeric 6p deletion: Clinical and array‐CGH characterization in two patients

Marie-Claude Addor, Michael A Morris, Jacques S Beckmann, 2008, American journal of medical genetics. Part A.

The Genetics of GER and GERD

I. Filges, R. Furlano, 2017 .

Fetal Polydactyly

J. Hench, P. Miny, S. Tercanli, 2011, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?

P. Miny, S. Tercanli, F. Wenzel, 2013, Microarrays.

Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies

K. Heinimann, P. Miny, S. Tercanli, 2012, Molecular Cytogenetics.

Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?

I. Filges, B. Röthlisberger, P. Weber, 2016, Molecular Cytogenetics.

Deletion in Xp22.11: PTCHD1 is a candidate gene for X‐linked intellectual disability with or without autism

P. Demougin, K. Heinimann, P. Miny, 2011, Clinical genetics.

Author's reply to Toutain's correspondence

P. Miny, I. Filges, 2011 .

aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis

K. Heinimann, P. Miny, S. Tercanli, 2011, Prenatal diagnosis.

Exome sequencing for gene discovery in lethal fetal disorders – harnessing the value of extreme phenotypes

J. Friedman, I. Filges, 2015, Prenatal diagnosis.

Failure to identify antenatal multiple congenital contractures and fetal akinesia – proposal of guidelines to improve diagnosis

I. Filges, J. Hall, 2013, Prenatal diagnosis.

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

S. McLennan, B. Zimmermann, D. Shaw, 2021, BMC Pediatrics.

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

C. Cytrynbaum, C. Marshall, A. Noor, 2015, Clinical genetics.

Panhypopituitarism Presenting as Life-Threatening Heart Failure Caused by an Inherited Microdeletion in 1q25 Including LHX4

A. Huber, G. Szinnai, U. Zumsteg, 2012, Pediatrics.

Panhypopituitarism Presenting as Life-Threatening HeartFailureCausedbyanInheritedMicrodeletionin

A. Huber, G. Szinnai, U. Zumsteg, 2012 .

Familial 14.5 Mb interstitial deletion 13q21.1–13q21.33: Clinical and array‐CGH study of a benign phenotype in a three‐generation family

A. Huber, C. Noppen, K. Heinimann, 2009, American journal of medical genetics. Part A.

Gene Discovery in Lethal Foetal Disorders

I. Filges, 2017 .

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.

S. Tschudin, C. Kunz, G. Szinnai, 2011, Fertility and sterility.

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

B. Schlaggar, J. Shimony, M. Shinawi, 2014, American journal of medical genetics. Part A.

Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement

S. Kulkarni, M. Shinawi, N. Hauser, 2014, American journal of medical genetics. Part A.

Genome sequencing in families with congenital limb malformations

D. Horn, S. Mundlos, M. Spielmann, 2021, Human Genetics.

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?

S. Heilmann-Heimbach, A. Dufke, M. Bonin, 2015, Molecular Cytogenetics.

Mosaic ring chromosome 8: Clinical and array‐CGH findings in partial trisomy 8

A. Huber, K. Heinimann, P. Miny, 2008, American journal of medical genetics. Part A.

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

S. Saunier, J. Roume, C. Jeanpierre, 2018, Human molecular genetics.

Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype–genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome

A. Huber, K. Heinimann, P. Miny, 2010, American journal of medical genetics. Part A.

TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability

A. Huber, J. Sidler, G. Ramelli, 2012, Clinical dysmorphology.

Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries

R. Chaoui, J. Hench, S. Hoeller, 2019, European Journal of Human Genetics.

Expanding the KIF4A ‐associated phenotype

F. Alkuraya, N. Chassaing, W. Dobyns, 2021, American journal of medical genetics. Part A.

CUGC for Stromme syndrome and CENPF-related disorders

P. Strømme, I. Filges, 2020, European Journal of Human Genetics.

CUGC for Stromme syndrome and CENPF-related disorders

P. Strømme, I. Filges, 2019, European Journal of Human Genetics.

A novel homozygous splice‐site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development

E. Bruder, I. Filges, Nicole Meier, 2017, Prenatal diagnosis.

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF

M. Schubach, S. Hoeller, S. Schulzke, 2016, Human Mutation.

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?

S. Heilmann-Heimbach, A. Dufke, M. Bonin, 2015, Molecular Cytogenetics.

We are failing to identify disorders of fetal movement – why?

I. Filges, J. Hall, 2012, Prenatal diagnosis.

Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?

I. Filges, B. Röthlisberger, P. Weber, 2016, Molecular Cytogenetics.

Fetal arthrogryposis—what do we tell the prospective parents?

S. Tercanli, E. Viehweger, I. Filges, 2023, Prenatal diagnosis.

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

A. V. van Kuilenburg, J. Christodoulou, M. Huemer, 2021, Molecular genetics and metabolism reports.