Associated Papers
Lazertinib for Patients with NSCLC Harboring Uncommon EGFR Mutations: A Phase II Multicenter Trial.
Park S et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene.
Batu Oto B et al.
Ophthalmic Genetics, 2023
Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features.
Yilmaz Gulec E et al.
Molecular Syndromology, 2022
Landscape of drug-resistance mutations in kinase regulatory hotspots.
Kim P et al.
Briefings in Bioinformatics, 2021
KinaseMD: kinase mutations and drug response database.
Hu R et al.
Nucleic Acids Research, 2021
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.
Edwards JJ et al.
Jacc. Basic to Translational Science, 2020
Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type.
Gupta N et al.
Journal of Pediatric Genetics, 2019
Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.
Ürel-Demir G et al.
Journal of Human Genetics, 2018
Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.
Gudernova I et al.
Oncotarget, 2017
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
Mansouri M et al.
American Journal of Medical Genetics. Part A, 2016
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.
McDonell LM et al.
Human Molecular Genetics, 2015
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.
Al-Kindi A et al.
Bmc Medical Genetics, 2014
Collagen recognition and transmembrane signalling by discoidin domain receptors.
Carafoli F et al.
Biochimica Et Biophysica Acta, 2013
Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.
Ali BR et al.
Human Molecular Genetics, 2010
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Al-Gazali L et al.
Human Mutation, 2010
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.
Bargal R et al.
American Journal of Human Genetics, 2009