Tara Funari
Publications by Year
Research Areas
RNA Research and Splicing, Connective tissue disorders research, RNA and protein synthesis mechanisms, Cell Adhesion Molecules Research, Ubiquitin and proteasome pathways
Most-Cited Works
- → Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia(2008)231 cited
- → Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia(2009)208 cited
- → De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome(2016)112 cited
- → Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene(2010)81 cited
- → TUBB4A de novo mutations cause isolated hypomyelination(2014)63 cited
- → Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy(2021)44 cited
- → BMPER Mutation in Diaphanospondylodysostosis Identified by Ancestral Autozygosity Mapping and Targeted High-Throughput Sequencing(2010)36 cited
- → Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2(2012)22 cited
- → 78: Multi-gene NGS panel yields high diagnostic rate of skeletal dysplasias detected by fetal ultrasound(2018)2 cited
- → Concurrent Chondrodysplasia Punctata Type 2 (Conradi–Hunermann–Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls(2017)2 cited