Associated Papers
Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.
Liu J et al.
Science Advances, 2025
40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC
Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.
Sangiorgi E et al.
Genes, 2023
38002998 (PubMed )
Supplement: genes-14-02055-s001.zip › SupplementaryTable2.xlsx › Foglio1
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1
Molecular testing in holoprosencephaly.
Kruszka P et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
Evidence of a gene-environment interaction of NODAL variants and inflammation in preterm birth.
Starr LM et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2018
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1
Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.
Tsai EA et al.
Human Mutation, 2015
Novel mutations of NODAL gene in Chinese patients with congenital heart disease.
Sun L et al.
Genetic Testing and Molecular Biomarkers, 2012
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
Mohapatra B et al.
Human Molecular Genetics, 2009
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.
Roessler E et al.
Molecular Genetics and Metabolism, 0
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