| Identification of genes associated with cancer progression and prognosis in lung adenocarcinoma: Analyses based on microarray from Oncomine and The Cancer Genome Atlas databases |
14 |
| Evaluation of copy number variant detection from panel-based next-generation sequencing data |
13 |
| The promising novel biomarkers and candidate small molecule drugs in kidney renal clear cell carcinoma: Evidence from bioinformatics analysis of high-throughput data |
12 |
| Long non-coding RNA NORAD promotes the occurrence and development of non-small cell lung cancer by adsorbing MiR-656-3p |
12 |
| Weighted gene coexpression network analysis identifies a new biomarker of CENPF for prediction disease prognosis and progression in nonmuscle invasive bladder cancer |
10 |
| A multidisciplinary approach to the clinical management of Prader-Willi syndrome |
10 |
| Preventing lives affected by hemophilia: A mixed methods study of the views of adults with hemophilia and their families toward genetic screening |
10 |
| Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION |
10 |
| Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study |
10 |
| The CLN3 gene and protein: What we know |
10 |
| miR-584-5p regulates hepatocellular carcinoma cell migration and invasion through targeting KCNE2 |
10 |
| Survival, causes of death, and cardiovascular events in patients with Marfan syndrome |
9 |
| Lnc-GIHCG promotes cell proliferation and migration in gastric cancer through miR- 1281 adsorption |
9 |
| Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype |
9 |
| How do genetically disabled adults view selective reproduction? Impairment, identity, and genetic screening |
9 |
| Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) |
9 |
| Circular RNA circ-TSPAN4 promotes lung adenocarcinoma metastasis by upregulating ZEB1 via sponging miR-665 |
9 |
| Consumer use and response to online third-party raw DNA interpretation services |
8 |
| Integrated bioinformatics analysis of key genes involved in progress of colon cancer |
8 |
| The protective impact of betaine on the tissue structure and renal function in isoproterenol-induced myocardial infarction in rat |
8 |
| Clinical whole-exome sequencing results impact medical management |
8 |
| Responsibility, identity, and genomic sequencing: A comparison of published recommendations and patient perspectives on accepting or declining incidental findings |
8 |
| The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses |
8 |
| miR-34a/BCL-2 signaling axis contributes to apoptosis in MPP+-induced SH-SY5Y cells |
8 |
| Whole exome sequencing identifies novel predisposing genes in neural tube defects |
8 |
| Identification and analysis of genes associated with head and neck squamous cell carcinoma by integrated bioinformatics methods |
8 |
| A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy |
7 |
| Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness |
7 |
| Metformin treatment in young children with fragile X syndrome |
7 |
| MicroRNA-451a acts as tumor suppressor in cutaneous basal cell carcinoma |
7 |
| Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort |
7 |
| Diverse phenotypes in children with PAX2-related disorder |
7 |
| The role of BRCA1/2 in hereditary and familial breast and ovarian cancers |
7 |
| Role of ACE I/D polymorphism in pathological assessment of preeclampsia in Pakistan |
6 |
| Circular RNA expression profiles and bioinformatics analysis in ovarian endometriosis |
6 |
| High expression of PRKDC promotes breast cancer cell growth via p38 MAPK signaling and is associated with poor survival |
6 |
| Variants identified in PTK7 associated with neural tube defects |
6 |
| Clinical application of single-molecule optical mapping to a multigeneration FSHD1 pedigree |
6 |
| Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method |
6 |
| Diagnostic performance of circular RNAs in human cancers: A systematic review and meta-analysis |
6 |
| Association study between genetic polymorphisms in folate metabolism and gastric cancer susceptibility in Chinese Han population: A case-control study |
6 |
| Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome |
6 |
| Mutation profile of FLNC gene and its prognostic relevance in patients with hypertrophic cardiomyopathy |
6 |
| Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism |
6 |
| CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients |
6 |
| Whole-exome sequencing for variant discovery in blepharospasm |
6 |
| Next-generation sequencing unravels extensive genetic alteration in recurrent ovarian cancer and unique genetic changes in drug-resistant recurrent ovarian cancer |
6 |
| Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications |
6 |
| Novel mutations of COL4A COL4A and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique |
6 |
| Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low-pass whole-genome sequencing |
6 |
