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Publications by Nine V. Knoers

Effectiveness of Whole-Exome Sequencing and Costs of the Traditional Diagnostic Trajectory in Children With Intellectual Disability

Genetics in Medicine

English

RD-Connect, NeurOmics and EURenOmics: Collaborative European Initiative for Rare Diseases

European Journal of Human Genetics

English

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Whole Exome Sequencing in Monogenic Dyslipidemias

Journal of Atherosclerosis and Thrombosis

Internal Medicine

Cardiovascular Medicine

English

Clinical Application of Whole-Exome Sequencing

English

The Diagnostic Potential of Whole Exome Sequencing in Infertile Men Due to Sperm Production Defect

Fertility and Sterility

Reproductive Medicine

English

Repurposing of Diagnostic Whole Exome Sequencing Data of 1,583 Individuals for Clinical Pharmacogenetics

Clinical Pharmacology and Therapeutics

English

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting

American Journal of Ophthalmology

English

Whole-Genome Sequencing Is More Powerful Than Whole-Exome Sequencing for Detecting Exome Variants

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Whole-Exome Sequencing Helps the Diagnosis and Treatment in Children With Neurodevelopmental Delay Accompanied Unexplained Dyspnea

Scientific Reports

Multidisciplinary

English

Whole-Exome Sequencing in the Investigation of Retinal Dystrophy

English

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

Frontiers in Genetics

Molecular Medicine

English