Gary A. Bellus
Geisinger Health System(US)
Publications by Year
Research Areas
Connective tissue disorders research, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Neurofibromatosis and Schwannoma Cases, Fibroblast Growth Factor Research
Most-Cited Works
- Achondroplasia is defined by recurrent G380R mutations of FGFR3.(1995)
- → A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia(1995)476 cited
- A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.(1997)
- → Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes(1996)320 cited
- → Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome(1998)227 cited
- → High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation(2015)189 cited
- → Genes, growth factors and acanthosis nigricans(2002)172 cited
- → Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype(2000)172 cited
- → A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene(1999)163 cited
- → Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3(1999)117 cited