Associated Papers
SOX17 in pulmonary arterial hypertension: from development to clinical phenotype.
Lacoste-Palasset T et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2025
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15
Investigation of Molecular Features Involved in Clinical Responses and Survival in Advanced Endometrial Carcinoma Treated by Hormone Therapy.
Neron M et al.
Journal of Personalized Medicine, 2022
35629078 (PubMed )
Supplement: jpm-12-00655-s001.zip › Supplementary_tables__MC20220419.xlsx › Table_S4
The pathophysiological role of novel pulmonary arterial hypertension gene SOX17.
Wu Y et al.
The European Respiratory Journal, 2021
Duplex kidney formation: developmental mechanisms and genetic predisposition.
Kozlov VM et al.
F1000research, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
Heidet L et al.
Journal of the American Society of Nephrology : Jasn, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT).
Combes P et al.
Annals of Human Genetics, 2012
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.
Gimelli S et al.
Human Mutation, 2010
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