Associated Papers
Identification of Novel Genomic Variants in COVID-19 Patients Using Whole-Exome Sequencing: Exploring the Plausible Targets of Functional Genomics.
Mir R et al.
Biochemical Genetics, 2025
A Novel Frameshift Variant in KIF11 Causes Autosomal Dominant Familial Exudative Vitreoretinopathy in a Chinese Family.
Zhang J et al.
Genetic Testing and Molecular Biomarkers, 2025
41342634 (PubMed )
Supplement: sj-pdf-1-gtm-10.1177_19450265251401002.pdf
Genomic alterations in normal breast tissues preceding breast cancer diagnosis.
Dai J et al.
Breast Cancer Research : Bcr, 2025
40264151 (PubMed )
Supplement: 13058_2025_2018_MOESM1_ESM.xlsx › Table_S1
Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.
Tang QY et al.
Imetaomics, 2025
41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.
Gogate A et al.
Npj Genomic Medicine, 2024
39632905 (PubMed )
Supplement: 41525_2024_444_MOESM2_ESM.xlsx › Supplementary_Data_5
Polymorphic pseudogenes in the human genome - a comprehensive assessment.
Lopes-Marques M et al.
Human Genetics, 2024
39488654 (PubMed )
Supplement: 439_2024_2715_MOESM7_ESM.xlsx › Additional_table_1
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
A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.
Shahid H et al.
The Yale Journal of Biology and Medicine, 2023
37781000 (PubMed )
Supplement: yjbm_96_3_383_appendixA.xlsx › Appendix_A
SERPINB11 variant-related liver injury in STEC-HUS: case reports and literature review.
Umman N et al.
Pediatric Nephrology (berlin, Germany), 2022
Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.
Pandey A et al.
Nature Communications, 2020
32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM7_ESM.xlsx › Cholecystitis_Mutations
Whole Exome Sequencing Among 26 Patients With Indeterminate Acute Liver Failure: A Pilot Study.
Rakela J et al.
Clinical and Translational Gastroenterology, 2019
Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis.
Kishore A et al.
Human Genetics, 2018
Human SNPs resulting in premature stop codons and protein truncation.
Savas S et al.
Human Genomics, 2006
Nucleotide variations in genes encoding plasminogen activator inhibitor-2 and serine proteinase inhibitor B10 associated with prostate cancer.
Shioji G et al.
Journal of Human Genetics, 2005
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