Trine Prescott
Telemark Hospital(NO)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, RNA modifications and cancer, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, RNA regulation and disease
Most-Cited Works
- → Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans(2009)318 cited
- → Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders(2016)273 cited
- → Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability(2012)267 cited
- → Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development(2007)228 cited
- → Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis(2008)204 cited
- → De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability(2017)197 cited
- → Clinical and Mutational Spectrum of Mowat–Wilson Syndrome(2005)137 cited
- → A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect(2016)101 cited
- → HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients(2017)98 cited
- → Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations(2014)89 cited