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Publications by Amihai Rigbi

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

Frontiers in Genetics

Molecular Medicine

English

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Whole Exome Sequencing for Prenatal Diagnosis in Cases With Fetal Anomalies: Criteria to Improve Diagnostic Yield

Journal of Genetic Counseling

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

American Journal of Ophthalmology

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

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A Semi-Automated Whole Exome Sequencing Workflow Leads to Increased Diagnostic Yield and Identification of Novel Candidate Variants

Cold Spring Harbor molecular case studies

Molecular Medicine

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THU0005 Whole Genome Linkage and Exome Sequencing Analyses in Takayasu Arteritis Families

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Identification of Candidate Gene Variants in Korean MODY Families by Whole-Exome Sequencing

Hormone Research in Paediatrics

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Whole Exome Sequencing in Monogenic Dyslipidemias

Journal of Atherosclerosis and Thrombosis

Internal Medicine

Cardiovascular Medicine

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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

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Identification of CDH23 Mutations in Korean Families With Hearing Loss by Whole-Exome Sequencing

BMC Medical Genetics

English