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Publications by Isabel Filges

Exome Sequencing of Fetal Anomaly Syndromes: Novel Phenotype–genotype Discoveries

European Journal of Human Genetics
Genetics
2019English

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Whole-Exome Sequencing Identifies a Novel Genotype-Phenotype Correlation in the Entactin Domain of the Known Deafness Gene TECTA

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Exome Sequencing to Identify Novel Genes in Hypertension

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2012English

Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype

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2014English

P05.10: Using Whole-Exome Sequencing in Prenatal Diagnosis of Severe Fetal Abnormalities

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P01.03: Fetal Echocardiographic Features and Whole-Exome Sequencing Results of Ventricular Non-Compaction Cardiomyopathy

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Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Frontiers in Genetics
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Genotype-Phenotype Correlations in Joubert Syndrome in the Era of Next Generation Sequencing

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2015English

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

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Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing

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