Amber Begtrup
Publications by Year
Research Areas
Genomics and Rare Diseases, RNA modifications and cancer, Erythrocyte Function and Pathophysiology, Neurogenetic and Muscular Disorders Research, Hemoglobinopathies and Related Disorders
Most-Cited Works
- → Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly(2017)217 cited
- → Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions(2024)84 cited
- → TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism(2018)69 cited
- → Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders(2022)13 cited
- → A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis(2018)11 cited
- → Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder(2023)11 cited
- EPB42-Related Hereditary Spherocytosis(2016)
- → Development Of a Comprehensive Rapid Next-Generation Sequencing Assay For The Diagnosis Of Inherited Hemolytic Anemia(2013)2 cited
- → SCYL2 ‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond?(2024)1 cited