Associated Papers
Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.
Senkevich K et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.
Liu J et al.
Science Advances, 2025
Performance and considerations in the use of diagnostic mutation panels for clonality testing in non-small-cell lung carcinoma.
Janssen J et al.
Esmo Open, 2025
SpliceTransformer predicts tissue-specific splicing linked to human diseases.
You N et al.
Nature Communications, 2024
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Monitoring of Circulating Tumor DNA Predicts Response to Treatment and Early Progression in Follicular Lymphoma: Results of a Prospective Pilot Study.
Fernández-Miranda I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Phenotypic drug-susceptibility profiles and genetic analysis based on whole-genome sequencing of Mycobacterium avium complex isolates in Thailand.
Sirichoat A et al.
Plos One, 2023
The ancillary N-terminal region of the yeast AP-1 transcription factor Yap8 contributes to its DNA binding specificity.
Maciaszczyk-Dziubinska E et al.
Nucleic Acids Research, 2020
XAF1 as a modifier of p53 function and cancer susceptibility.
Pinto EM et al.
Science Advances, 2020
Genomic profiling of colorectal cancer with isolated lung metastasis.
Zhang N et al.
Cancer Cell International, 2020
Identification of Targetable Lesions in Anaplastic Thyroid Cancer by Genome Profiling.
Ravi N et al.
Cancers, 2019
Synonymous mutations make dramatic contributions to fitness when growth is limited by a weak-link enzyme.
Kristofich J et al.
Plos Genetics, 2018
Pairwise and higher-order genetic interactions during the evolution of a tRNA.
Domingo J et al.
Nature, 2018
The genomic landscape of malignant peripheral nerve sheath tumors: diverse drivers of Ras pathway activation.
Brohl AS et al.
Scientific Reports, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma.
Seki M et al.
Nature Communications, 2015
Human telomeric RNA G-quadruplex response to point mutation in the G-quartets.
Agarwala P et al.
The Journal of Physical Chemistry. B, 2015
Identifying potential functional impact of mutations and polymorphisms: linking heart failure, increased risk of arrhythmias and sudden cardiac death.
Jagu B et al.
Frontiers in Physiology, 2013
Retrotransposon Ty1 RNA contains a 5'-terminal long-range pseudoknot required for efficient reverse transcription.
Huang Q et al.
Rna (new York, N.y.), 2013
Design and characterization of stabilized derivatives of human CD4D12 and CD4D1.
Saha P et al.
Biochemistry, 2011
The mitochondrial cytochrome c N-terminal region is critical for maturation by holocytochrome c synthase.
Stevens JM et al.
Febs Letters, 2011
The N-terminal tail of hERG contains an amphipathic α-helix that regulates channel deactivation.
Ng CA et al.
Plos One, 2011
Thermodynamic and kinetic consequences of substituting glycine at different positions in a Pro-Hyp-Gly repeat collagen model peptide.
Chen YS et al.
Biopolymers, 2011
Polymorphisms of angiotensinogen and angiotensin-converting enzyme associated with lower extremity arterial disease in the Health, Aging and Body Composition study.
Li R et al.
Journal of Human Hypertension, 2007
Angiotensinogen promoter haplotypes are associated with blood pressure in untreated hypertensives.
Brand-Herrmann SM et al.
Journal of Hypertension, 2004
The maize Single myb histone 1 gene, Smh1, belongs to a novel gene family and encodes a protein that binds telomere DNA repeats in vitro.
Marian CO et al.
Plant Physiology, 2003
Common genetic variation in a basal promoter element alters DDAH2 expression in endothelial cells.
Jones LC et al.
Biochemical and Biophysical Research Communications, 2003
Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population.
Beutler E et al.
Blood, 2000