Associated Papers
Saturation mutagenesis identifies activating and resistance-inducing FGFR kinase domain mutations.
Tangermann C et al.
Nature Genetics, 2026
Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.
Gaudioso F et al.
Medical Sciences (basel, Switzerland), 2025
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S11.xls › Sheet1
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1.
Kobayashi S et al.
Journal of the Endocrine Society, 2020
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
Courage C et al.
American Journal of Medical Genetics. Part A, 2019
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.
Palumbo P et al.
European Journal of Human Genetics : Ejhg, 2019
Syndromes associated with holoprosencephaly.
Kruszka P et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.
Hong S et al.
Human Molecular Genetics, 2016
Landscape of activating cancer mutations in FGFR kinases and their differential responses to inhibitors in clinical use.
Patani H et al.
Oncotarget, 2016
Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome.
Takagi M et al.
Human Genome Variation, 2016
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