Associated Papers
Prenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.
An J et al.
American Journal of Medical Genetics. Part A, 2026
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
FGFR1 Tyrosine Kinase Domain Variant p.Val561Met in Caudal Dysraphism: A Case Report.
Goel H et al.
Birth Defects Research, 2025
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
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
Low-level parental mosaicism affects the recurrence risk of holoprosencephaly.
Hu P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Syndromes associated with holoprosencephaly.
Kruszka P et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature.
Oliver JD et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing.
Shi Y et al.
American Journal of Medical Genetics. Part A, 2016
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.
Hong S et al.
Human Molecular Genetics, 2016
Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
Lazaridis KN et al.
Mayo Clinic Proceedings, 2016
Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome.
Takagi M et al.
Human Genome Variation, 2016
Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.
Dhamija R et al.
American Journal of Medical Genetics. Part A, 2014