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Publications by Aida M. Bertoli-Avella

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

Frontiers in Genetics
GeneticsMolecular Medicine
2019English

Loss of UGP2 in Brain Leads to a Severe Epileptic Encephalopathy, Emphasizing That Bi-Allelic Isoform Specific Start-Loss Mutations of Essential Genes Can Cause Genetic Diseases

2019English

Related publications

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

Journal of Genetic Counseling
Genetics
2018English

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

American Journal of Ophthalmology
Ophthalmology
2015English

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

Ultrasound in Obstetrics and Gynecology
Nuclear MedicineRadiologyUltrasound TechnologyGynecologyReproductive MedicineRadiologicalImagingObstetricsMedicine
2018English

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

Cold Spring Harbor molecular case studies
BiochemistryMolecular MedicineGenetics
2019English

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

2018English

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

Hormone Research in Paediatrics
Child HealthEndocrinologyPerinatologyPediatricsMetabolismDiabetes
2015English

Whole Exome Sequencing in Monogenic Dyslipidemias

Journal of Atherosclerosis and Thrombosis
BiochemistryInternal MedicineCardiovascular MedicineCardiology
2015English

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
2015English

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

BMC Medical Genetics
Genetics
2014English

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