| Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases |
79 |
| Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization |
56 |
| The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants |
34 |
| Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes |
18 |
| Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion |
18 |
| A large data resource of genomic copy number variation across neurodevelopmental disorders |
17 |
| New insights into structural features and optimal detection of circulating tumor DNA determined by single-strand DNA analysis |
16 |
| Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico |
14 |
| Mutation load estimation model as a predictor of the response to cancer immunotherapy |
13 |
| High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer |
12 |
| Complex genetics of female fertility |
12 |
| Both rare and common genetic variants contribute to autism in the Faroe Islands |
11 |
| User considerations in assessing pharmacogenomic tests and their clinical support tools |
11 |
| Incorporating epilepsy genetics into clinical practice: a 360 degrees evaluation |
11 |
| A phenotype centric benchmark of variant prioritisation tools |
10 |
| Pan-cancer screen for mutations in non-coding elements with conservation and cancer specificity reveals correlations with expression and survival |
10 |
| Responsible sharing of biomedical data and biospecimens via the Automatable Discovery and Access Matrix (ADA-M) |
10 |
| A Mendelian randomization study of IL6 signaling in cardiovascular diseases, immune-related disorders and longevity |
9 |
| Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy |
9 |
| Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer |
8 |
| Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices |
7 |
| HHV-6 encoded small non-coding RNAs define an intermediate and early stage in viral reactivation |
7 |
| Identification of an immune gene expression signature associated with favorable clinical features in Treg-enriched patient tumor samples |
6 |
| Impact of free cancer predisposition cascade genetic testing on uptake in Singapore |
6 |
| Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP) |
6 |
| RNA sequencing identifies clonal structure of T-cell repertoires in patients with adult T-cell leukemia/lymphoma |
5 |
| Integrative analysis with expanded DNA methylation data reveals common key regulators and pathways in cancers |
4 |
| Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy |
4 |
| A phenome-wide association study to discover pleiotropic effects of PCSK APOB, and LDLR |
4 |
| Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality |
4 |
| Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome |
3 |
| Implementation of genomics in medical practice to deliver precision medicine for an Asian population |
3 |
| Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese |
3 |
| TAC-seq: targeted DNA and RNA sequencing for precise biomarker molecule counting |
3 |
| Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A |
3 |
| Glucocorticoid-resistant B cell acute lymphoblastic leukemia displays receptor tyrosine kinase activation |
3 |
| Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants |
3 |
| An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery |
3 |
| A robust targeted sequencing approach for low input and variable quality DNA from clinical samples |
3 |
| Signaling pathway screening platforms are an efficient approach to identify therapeutic targets in cancers that lack known driver mutations: a case report for a cancer of unknown primary origin |
2 |
| Targeted resequencing identifies genes with recurrent variation in cerebral palsy |
2 |
| Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease |
2 |
| Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey |
2 |
| Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family |
2 |
| Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 788 electronic health records |
2 |
| Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours |
2 |
| Predictors of next-generation sequencing panel selection using a shared decision-making approach |
2 |
| Two different STAT1 gain-of-function mutations lead to diverse IFN-gamma-mediated gene expression |
2 |
| Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients |
2 |
| Improving imputation in disease-relevant regions: lessons from cystic fibrosis |
2 |
