Samantha Doyle
National Maternity Hospital(IE)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Fetal and Pediatric Neurological Disorders, Neonatal Respiratory Health Research, Congenital Heart Disease Studies, Mitochondrial Function and Pathology
Most-Cited Works
- → Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature(2018)60 cited
- → Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study(2021)46 cited
- → Multi-Organ Dysfunction in Cerebral Palsy(2021)30 cited
- → Pitfalls of prenatal diagnosis associated with mosaicism(2022)20 cited
- → Serum cortisol values, superior vena cava flow and illness severity scores in very low birth weight infants(2010)12 cited
- → The prenatal exome – a door to prenatal diagnostics?(2021)9 cited
- → The genetic and biochemical basis of trimethylaminuria in an Irish cohort(2019)9 cited
- → Diagnostic and perinatal outcomes in consanguineous couples with a structural fetal anomaly: A cohort study(2020)6 cited
- → Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families(2023)5 cited
- → Molecular autopsy for fetal structural anomaly: diagnostic and clinical utility of multidisciplinary team approach(2024)4 cited