Associated Papers
A multi-omics analysis of pancreatitis: bridging familial genetics and disease progression.
Li F et al.
Frontiers in Immunology, 2025
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf
Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing.
Chen S et al.
Human Genomics, 2022
Whole-Genome Sequencing Identified KCNJ12 and SLC25A5 Mutations in Port-Wine Stains.
Chen K et al.
Frontiers in Medicine, 2022
A whole genome sequencing approach to anterior cruciate ligament rupture-a twin study in two unrelated families.
Feldmann D et al.
Plos One, 2022
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1
A novel patient-derived organoids-based xenografts model for preclinical drug response testing in patients with colorectal liver metastases.
Jian M et al.
Journal of Translational Medicine, 2020
32532289 (PubMed )
Supplement: 12967_2020_2407_MOESM2_ESM.xlsx › Table_S1A_356_SNV
Contribution of Asian Haplotype of KCNJ18 to Susceptibility to and Ethnic Differences in Thyrotoxic Periodic Paralysis.
Noso S et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.
Calvete O et al.
Journal of the American Heart Association, 2019
Familial Esophageal Squamous Cell Carcinoma with damaging rare/germline mutations in KCNJ12/KCNJ18 and GPRIN2 genes.
Khalilipour N et al.
Cancer Genetics, 2018
Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.
Zeltner N et al.
Nature Medicine, 2016
27841875 (PubMed )
Supplement: 41591_2016_BFnm4220_MOESM18_ESM.xlsx › heterozygous_variants
Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.
Gu Q et al.
Oncotarget, 2015
26062443 (PubMed )
Supplement: oncotarget-06-20160-s004.xlsx › Sheet1
Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.
Balbás-Martínez C et al.
Nature Genetics, 2013
24121791 (PubMed )
Supplement: NIHMS525200-supplement-2.xls › Relevant_mut_discovery_screen
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.
Pippucci T et al.
Plos One, 2013
24358150 (PubMed )
Supplement: pone.0082154.s002.xls › Sheet1
Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.
Chang H et al.
Plos One, 2011
21701589 (PubMed )
Supplement: pone.0021097.s002.xls › mda-mb468_f40r3
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