Associated Papers
Saturation mutagenesis identifies activating and resistance-inducing FGFR kinase domain mutations.
Tangermann C et al.
Nature Genetics, 2026
41361008 (PubMed )
Supplement: 41588_2025_2431_MOESM6_ESM.xlsx › Figure_E3b
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3
Intrahepatic cholangiocarcinoma with FGFR alterations: A series of Chinese cases with an emphasis on their clinicopathologic and genetic features.
Zhou J et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2024
Comparative genomics of primary prostate cancer and paired metastases: insights from 12 molecular case studies.
Cyrta J et al.
The Journal of Pathology, 2022
35220606 (PubMed )
Supplement: PATH-257-274-s001.xlsx › S6_AmpliSeq_SNV
Genetic testing and prognosis of sarcomatoid hepatocellular carcinoma patients.
Jia B et al.
Frontiers in Oncology, 2022
36741696 (PubMed )
Supplement: DataSheet_1.zip › Supplemental_Table_S2.xlsx › Sheet1
Comprehensive functional evaluation of variants of fibroblast growth factor receptor genes in cancer.
Nakamura IT et al.
Npj Precision Oncology, 2021
34272467 (PubMed )
Supplement: 41698_2021_204_MOESM3_ESM.xlsx › Supplementary_Data_1
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas RA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Balasubramanian R et al.
Neuroendocrinology, 2010
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.
Bianco SD et al.
Nature Reviews. Endocrinology, 2009
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome.
Kim SH et al.
Journal of Neuroendocrinology, 2008
Genetic insights into human isolated gonadotropin deficiency.
Trarbach EB et al.
Pituitary, 2007
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
Pitteloud N et al.
Molecular and Cellular Endocrinology, 2006
Select a paper to view details