Catarina M. Seabra
University of Coimbra(PT)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Chromosomal and Genetic Variations, CRISPR and Genetic Engineering, Genomics and Rare Diseases
Most-Cited Works
- → The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies(2016)350 cited
- → Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome(2017)233 cited
- → SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome(2017)160 cited
- → Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1(2013)142 cited
- → Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR(2016)98 cited
- → Effects of a New Bioceramic Material on Human Apical Papilla Cells(2018)67 cited
- → Regeneration of pulp-dentin complex using human stem cells of the apical papilla: in vivo interaction with two bioactive materials(2021)62 cited
- → Incomplete DJH rearrangements of the IgH gene are frequent in multiple myeloma patients: immunobiological characteristics and clinical implications(2003)41 cited
- → A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia(2014)25 cited
- → Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons(2020)21 cited