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Publications by Karl Heinimann

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

European Journal of Human Genetics

English

Discordant Gene Expression Signatures and Related Phenotypic Differences in Lamin A- And a/C-Related Hutchinson-Gilford Progeria Syndrome (HGPS)

Multidisciplinary

English

Related publications

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

Multidisciplinary

English

Exome Sequencing to Identify Novel Genes in Hypertension

Circulation: Cardiovascular Genetics

English

Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype

English

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

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Ultrasound Technology

Reproductive Medicine

English

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

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Ultrasound Technology

Reproductive Medicine

English

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

Frontiers in Genetics

Molecular Medicine

English

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

English

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

Multidisciplinary

English

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

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English