F. Lucy Raymond
Institute for Clinical and Economic Review(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Congenital heart defects research, Influenza Virus Research Studies
Most-Cited Works
- → Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.(1997)1,194 cited
- → 3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome(2005)296 cited
- → Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor(2007)224 cited
- → Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation(2008)217 cited
- → Fibroblast growth factor-18 is a trophic factor for mature chondrocytes and their progenitors(2002)200 cited
- → Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides(2019)195 cited