Associated Papers
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Elife, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Biorxiv : the Preprint Server for Biology, 2023
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.
Greer C et al.
Human Reproduction (oxford, England), 2021
Genome-Wide Association Identifies Risk Pathways for SAPHO Syndrome.
Cai R et al.
Frontiers in Cell and Developmental Biology, 2021
Association between CSF1 and CSF1R Polymorphisms and Parkinson's Disease in Taiwan.
Chang KH et al.
Journal of Clinical Medicine, 2019
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
Clinical and Genetic Advances in Paget's Disease of Bone: a Review.
Alonso N et al.
Clinical Reviews in Bone and Mineral Metabolism, 2017
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
Polymorphisms of CSF1 and TM7SF4 genes in a case of mild juvenile Paget's disease found using next-generation sequencing.
Donáth J et al.
Croatian Medical Journal, 2015
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
The association of CSF-1 gene polymorphism with chronic periodontitis in the Han Chinese population.
Chen D et al.
Journal of Periodontology, 2014
Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.
Nasuno T et al.
Cancer Science, 2014
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Single nucleotide polymorphisms in inflammation-related genes and mortality in a community-based cohort in Washington County, Maryland.
Gallicchio L et al.
American Journal of Epidemiology, 2008
CSF1 gene associated with aggressive periodontitis in the Japanese population.
Rabello D et al.
Biochemical and Biophysical Research Communications, 2006
Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension.
Kokubo Y et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2006