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Publications by Laurie E. Cohen
Isolated Central Hypothyroidism in Young Siblings as a Manifestation of PROP1 Deficiency: Clinical Impact of Whole Exome Sequencing
Hormone Research in Paediatrics
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
cAMP Response Element-Binding Protein-Binding Protein Mediates Thyrotropin-Releasing Hormone Signaling on Thyrotropin Subunit Genes
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Related publications
Clinical Application of Whole-Exome Sequencing
JAMA Neurology
Neurology
A Rare ANOS1 Variant in Siblings With Kallmann Syndrome Identified by Whole Exome Sequencing
Andrology
Endocrinology
Reproductive Medicine
Urology
Metabolism
Diabetes
Carbamoyl Phosphate Synthetase 1 Deficiency Diagnosed by Whole Exome Sequencing
Journal of Clinical Laboratory Analysis
Allergy
Immunology
Biochemistry
Public Health
Medical Laboratory Technology
Clinical Biochemistry
Hematology
Microbiology
Environmental
Occupational Health
Whole Exome Sequencing in Monogenic Dyslipidemias
Journal of Atherosclerosis and Thrombosis
Biochemistry
Internal Medicine
Cardiovascular Medicine
Cardiology
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
Peroxisomal D-Bifunctional Protein Deficiency: Three Adults Diagnosed by Whole-Exome Sequencing
Neurology
Neurology
Clinical Cancer Genomic Profiling by Three-Platform Sequencing of Whole Genome, Whole Exome and Transcriptome
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Repurposing of Diagnostic Whole Exome Sequencing Data of 1,583 Individuals for Clinical Pharmacogenetics
Clinical Pharmacology and Therapeutics
Pharmacology
Whole-Exome Sequencing in the Investigation of Retinal Dystrophy
The Lancet
Medicine