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Publications by Eliana Hechter

Isolated Central Hypothyroidism in Young Siblings as a Manifestation of PROP1 Deficiency: Clinical Impact of Whole Exome Sequencing

Hormone Research in Paediatrics

English

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Clinical Application of Whole-Exome Sequencing

English

A Rare ANOS1 Variant in Siblings With Kallmann Syndrome Identified by Whole Exome Sequencing

Reproductive Medicine

English

Carbamoyl Phosphate Synthetase 1 Deficiency Diagnosed by Whole Exome Sequencing

Journal of Clinical Laboratory Analysis

Medical Laboratory Technology

Clinical Biochemistry

Occupational Health

English

Whole Exome Sequencing in Monogenic Dyslipidemias

Journal of Atherosclerosis and Thrombosis

Internal Medicine

Cardiovascular Medicine

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

Peroxisomal D-Bifunctional Protein Deficiency: Three Adults Diagnosed by Whole-Exome Sequencing

English

Clinical Cancer Genomic Profiling by Three-Platform Sequencing of Whole Genome, Whole Exome and Transcriptome

Nature Communications

Molecular Biology

English

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

Clinical Pharmacology and Therapeutics

English

Whole-Exome Sequencing in the Investigation of Retinal Dystrophy

English