Eloisa Carta
University College London(GB)
Publications by Year
Research Areas
Craniofacial Disorders and Treatments, Amino Acid Enzymes and Metabolism, Neuroscience and Neuropharmacology Research, Muscle Physiology and Disorders, RNA Research and Splicing
Most-Cited Works
- → Highly effective SNP-based association mapping and management of recessive defects in livestock(2008)343 cited
- → A balanced chromosomal translocation disruptingARHGEF9is associated with epilepsy, anxiety, aggression, and mental retardation(2008)204 cited
- → Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease(2012)82 cited
- → X‐linked CHARGE‐like Abruzzo–Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations(2012)23 cited
- → Identification of congenital muscular dystonia 2 associated with an inherited GlyT2 defect in Belgian Blue cattle from the United Kingdom(2011)11 cited
- → Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate(2012)5 cited
- The glycine transporter GLYT2 : mutations, interactors and diseases(2008)