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Publications by Rebecca Keelagher

Molecular Autopsy by Trio Exome Sequencing (ES) and Postmortem Examination in Fetuses and Neonates With Prenatally Identified Structural Anomalies

Genetics in Medicine
MedicineGenetics
2018English

Related publications

Prenatal Exome Sequencing Analysis in Fetal Structural Anomalies Detected by Ultrasonography (PAGE): A Cohort Study

Yearbook of Paediatric Endocrinology
2019English

Imprinting: The Achilles Heel of Trio-Based Exome Sequencing

Genetics in Medicine
MedicineGenetics
2016English

OC20.02: Prenatal Diagnosis by Chromosome Microarray Analysis and Whole-Exome Sequencing for Fetuses With Skeletal Dysplasia

Ultrasound in Obstetrics and Gynecology
Nuclear MedicineRadiologyUltrasound TechnologyGynecologyReproductive MedicineRadiologicalImagingObstetricsMedicine
2018English

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

Andrology
EndocrinologyReproductive MedicineUrologyMetabolismDiabetes
2017English

Exome Sequencing Identified New Mutations in a Marfan Syndrome Family

Diagnostic Pathology
Forensic MedicineMedicinePathologyHistology
2014English

Pitfalls of Trio-Based Exome Sequencing: Imprinted Genes and Parental Mosaicism—MAGEL2 as an Example

Genetics in Medicine
MedicineGenetics
2017English

Autopsy and Postmortem Studies Are Concordant: Pathology of Zika Virus Infection Is Neurotropic in Fetuses and Infants With Microcephaly Following Transplacental Transmission

Archives of Pathology and Laboratory Medicine
MedicineForensic MedicinePathologyMedical Laboratory Technology
2017English

Comparative Study of Conventional and Virtual Autopsy Using Postmortem MRI in the Phenotypic Characterization of Stillbirths and Malformed Fetuses

Ultrasound in Obstetrics and Gynecology
Nuclear MedicineRadiologyUltrasound TechnologyGynecologyReproductive MedicineRadiologicalImagingObstetricsMedicine
2018English

Whole Exome Sequencing as a Diagnostic Adjunct to Clinical Testing in a Tertiary Referral Cohort of 3988 Fetuses With Structural Abnormalities

Ultrasound in Obstetrics and Gynecology
Nuclear MedicineRadiologyUltrasound TechnologyGynecologyReproductive MedicineRadiologicalImagingObstetricsMedicine
2018English

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