Pauline Bogaard
Aalborg University Hospital(DK)
Publications by Year
Research Areas
Genetic Syndromes and Imprinting, Genomic variations and chromosomal abnormalities, Pregnancy and preeclampsia studies, Prenatal Screening and Diagnostics, Mitochondrial Function and Pathology
Most-Cited Works
- → Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes(2018)35 cited
- → Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing(2014)19 cited
- → Spontaneous regression of advanced merkel-cell-like small cell carcinoma of the parotid gland(2009)16 cited
- → Postpartum placental CT angiography in normal pregnancies and in those complicated by diabetes mellitus(2018)16 cited
- → A Case of Isolated Neck Extensor Myopathy Responding Favorably to Immunotherapy(2013)15 cited
- → Mosaicism for copy number variations in the placenta is even more difficult to interpret than mosaicism for whole chromosome aneuploidy(2021)13 cited
- → Placental mosaicism in the era of chromosomal microarrays(2019)12 cited
- → Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene(2019)11 cited
- → SARS‐CoV‐2 placentitis and severe pregnancy outcome after maternal infection: A Danish case series(2023)5 cited