Solveig Heide
- Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences
2017/12/09 by Solveig Heide, Sandra Chantot‐Bastaraud, Sandra Chantot-Bastaraud +21 · 23 citations
Biochemistry, Genetics and Molecular Biology · #Allele #Beckwith–Wiedemann syndrome #Biology #DNA methylation #Epigenetics #Gene #Gene duplication #Gene expression #Gene family #Genetic Syndromes and Imprinting #Genetics #Genetics and Neurodevelopmental Disorders #Genome #Genomic imprinting #Genomic variations and chromosomal abnormalities #Genotype #Methylation #Phenotype #Segmental duplication
- Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
2025/05/16 by Caroline Nava, Benjamin Cogné, Amandine Santini +97 · 1 voice · 1 citation
Biochemistry, Genetics and Molecular Biology · #RNA Research and Splicing #RNA and protein synthesis mechanisms #RNA modifications and cancer