Associated Papers
Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.
Johansson PA et al.
Pigment Cell & Melanoma Research, 2026
Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.
Allsopp RC et al.
Bmc Cancer, 2025
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
Expanding Broad Molecular Reflex Testing in Non-Small Cell Lung Cancer to Squamous Histology.
Zacharias M et al.
Cancers, 2024
Higher Prevalence of Monogenic Cause Among Very Early Onset Inflammatory Bowel Disease in Children: Experience From a Tertiary Care Center From Northern India.
Poddar U et al.
Inflammatory Bowel Diseases, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Assessment of the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation Sequencing.
Park HY et al.
Biomedicines, 2023
The landscape of actionable genomic alterations in lung adenocarcinomas in India.
Sharma R et al.
Frontiers in Genetics, 2023
Molecular Divergence upon EGFR-TKI Resistance Could Be Dependent on the Exon Location of the Original EGFR-Sensitizing Mutation.
Serna-Blasco R et al.
Cancers, 2022
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.
Zingg D et al.
Nature, 2022
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy.
Serio VB et al.
Journal of Clinical Medicine, 2022
Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia.
Wang CY et al.
Bmc Medical Genomics, 2021
Phase II Study of AZD4547 in Patients With Tumors Harboring Aberrations in the FGFR Pathway: Results From the NCI-MATCH Trial (EAY131) Subprotocol W.
Chae YK et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020
Novel Mutations in Pilomatrixoma, CTNNB1 p.s45F, and FGFR2 p.s252L: A Report of Three Cases Diagnosed by Fine-Needle Aspiration Biopsy, with Review of the Literature.
Mitteldorf CATDS et al.
Case Reports in Genetics, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors.
Maher GJ et al.
Human Reproduction (oxford, England), 2019
Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer.
Kaur P et al.
Scientific Reports, 2019
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.
Maher GJ et al.
Genome Research, 2018
Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
Ohishi A et al.
American Journal of Medical Genetics. Part A, 2017
Understanding craniosynostosis as a growth disorder.
Flaherty K et al.
Wiley Interdisciplinary Reviews. Developmental Biology, 2016
Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome.
Takagi M et al.
Human Genome Variation, 2016
Cell-Free DNA Next-Generation Sequencing in Pancreatobiliary Carcinomas.
Zill OA et al.
Cancer Discovery, 2015
Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications.
Helsten T et al.
Cancer Metastasis Reviews, 2015
A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family.
Lumaka A et al.
European Journal of Medical Genetics, 2014
Clonal architectures and driver mutations in metastatic melanomas.
Ding L et al.
Plos One, 2014
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.
Giannoulatou E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Understanding what determines the frequency and pattern of human germline mutations.
Arnheim N et al.
Nature Reviews. Genetics, 2009
Loss-of-function fibroblast growth factor receptor-2 mutations in melanoma.
Gartside MG et al.
Molecular Cancer Research : Mcr, 2009
FGF signaling: its role in bone development and human skeleton diseases.
Su N et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
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
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO et al.
American Journal of Medical Genetics. Part A, 2007
Extracellular matrix and growth factors in the pathogenesis of some craniofacial malformations.
Carinci P et al.
European Journal of Histochemistry : Ejh, 2007
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO et al.
American Journal of Medical Genetics. Part A, 2006
Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix.
Carinci F et al.
The Journal of Craniofacial Surgery, 2005
Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia.
Goriely A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2005
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
de Ravel TJ et al.
European Journal of Human Genetics : Ejhg, 2005
Structural basis for fibroblast growth factor receptor activation.
Mohammadi M et al.
Cytokine & Growth Factor Reviews, 2005
Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.
Wilkie AO
Cytokine & Growth Factor Reviews, 2005
FGF signaling in the developing endochondral skeleton.
Ornitz DM
Cytokine & Growth Factor Reviews, 2005
Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.
Ibrahimi OA et al.
Human Molecular Genetics, 2004
Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line.
Goriely A et al.
Science (new York, N.y.), 2003