Associated Papers
RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.
Wallen ZD et al.
Frontiers in Genetics, 2025
40385986 (PubMed )
Supplement: Supplementaryfile1.xlsx › Supplementary_Table_3
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.
Lin M et al.
Molecular Genetics & Genomic Medicine, 2019
31318164 (PubMed )
Supplement: MGG3-7-e843-s002.doc
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Barnett CP et al.
Human Mutation, 2016
Understanding craniosynostosis as a growth disorder.
Flaherty K et al.
Wiley Interdisciplinary Reviews. Developmental Biology, 2016
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
Paumard-Hernández B et al.
European Journal of Human Genetics : Ejhg, 2015
A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome.
Suh YJ et al.
Journal of Cellular Biochemistry, 2014
Loss-of-function fibroblast growth factor receptor-2 mutations in melanoma.
Gartside MG et al.
Molecular Cancer Research : Mcr, 2009
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Passos-Bueno MR et al.
Frontiers of Oral Biology, 2008
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.
Pollock PM et al.
Oncogene, 2007
Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link.
Hansen RM et al.
The Journal of Pathology, 2005
Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis).
Mulliken JB et al.
Plastic and Reconstructive Surgery, 2004
Clinical spectrum of fibroblast growth factor receptor mutations.
Passos-Bueno MR et al.
Human Mutation, 1999
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
Steinberger D et al.
Human Genetics, 1998
Select a paper to view details