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
Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.
Gaudioso F et al.
Medical Sciences (basel, Switzerland), 2025
Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic Hypogonadism.
Tanikawa W et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 2022
36273432 (PubMed )
Supplement: HUMU-43-2308-s002.xlsx › Feuil1
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands C et al.
Scientific Reports, 2021
34663891 (PubMed )
Supplement: 41598_2021_99747_MOESM2_ESM.xlsx › Table-S1-modified
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32123317 (PubMed )
Supplement: 41436_2020_766_MOESM3_ESM.xlsx › Variant_summary
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
Courage C et al.
American Journal of Medical Genetics. Part A, 2019
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