| Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature |
80 |
| Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test |
56 |
| BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors |
56 |
| Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders |
49 |
| False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care |
46 |
| Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework |
45 |
| Meeting the challenges of implementing rapid genomic testing in acute pediatric care |
33 |
| Long-read genome sequencing identifies causal structural variation in a Mendelian disease |
33 |
| Somatic TP53 variants frequently confound germ-line testing results |
31 |
| Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 133 families with developmental disorders |
31 |
| Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness |
30 |
| Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel |
30 |
| A proposed nosology of inborn errors of metabolism |
30 |
| The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome |
28 |
| Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer |
27 |
| Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis |
27 |
| Precision newborn screening for lysosomal disorders |
26 |
| Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) |
26 |
| Insights into genetics, human biology and disease gleaned from family based genomic studies |
26 |
| Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study |
25 |
| Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders |
25 |
| Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management |
25 |
| MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer |
25 |
| Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes |
24 |
| Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency |
24 |
| The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variants are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variants |
24 |
| Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 000 Genomes Project |
22 |
| Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants |
22 |
| Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk |
22 |
| The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 000 Infants |
22 |
| Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG) |
21 |
| The landscape of epilepsy-related GATOR1 variants |
21 |
| ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs |
21 |
| Pilot study of population-based newborn screening for spinal muscular atrophy in New York state |
21 |
| From public health genomics to precision public health: a 20-year journey |
21 |
| Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study |
20 |
| Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides |
20 |
| CYP2D6-guided opioid therapy improves pain control in CYP2D6 intermediate and poor metabolizers: a pragmatic clinical trial |
20 |
| Aminoacyl-tRNA synthetase deficiencies in search of common themes |
20 |
| Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) |
19 |
| Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants |
19 |
| Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing |
19 |
| Impact of NUDT15 genetics on severe thiopurine-related hematotoxicity in patients with European ancestry |
19 |
| Current conditions in medical genetics practice |
19 |
| The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis |
18 |
| ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants |
18 |
| Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction |
18 |
| Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing |
18 |
| Phenotypic expansion illuminates multilocus pathogenic variation |
18 |
| Autozygome and high throughput confirmation of disease genes candidacy |
18 |
