| The Global State of the Genetic Counseling Profession |
30 |
| Circulating cell-free nucleic acids: characteristics and applications |
26 |
| Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis |
23 |
| Association of modifiers and other genetic factors explain Marfan syndrome clinical variability |
17 |
| De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1 |
17 |
| Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study |
15 |
| Return of individual genomic research results: are laws and policies keeping step? |
15 |
| Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles |
14 |
| Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders |
14 |
| European guidelines for constitutional cytogenomic analysis |
14 |
| Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients |
13 |
| HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients |
13 |
| How is genetic testing evaluated? A systematic review of the literature |
13 |
| Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms |
12 |
| Communication about genetic testing with breast and ovarian cancer patients: a scoping review |
12 |
| A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience |
12 |
| The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility |
12 |
| Linear isoforms of the long noncoding RNA CDKN2B-AS1 regulate the c-myc-enhancer binding factor RBMS1 |
12 |
| New insights from Thailand into the maternal genetic history of Mainland Southeast Asia |
11 |
| Meta-analysis of genome-wide association studies of aggressive and chronic periodontitis identifies two novel risk loci |
11 |
| Molecular genetic overlap between migraine and major depressive disorder |
11 |
| Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing |
11 |
| Recent developments in genetics and medically assisted reproduction: from research to clinical applications |
10 |
| Broad phenotypes in heterozygous NR5A1 XY patients with a disorder of sex development: an oligogenic origin? |
10 |
| Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability |
10 |
| European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death |
10 |
| Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis |
10 |
| The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study |
10 |
| Centenarian controls increase variant effect sizes by an average twofold in an extreme case-extreme control analysis of Alzheimer's disease |
10 |
| Homogentisate 2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU |
10 |
| Genome-wide association meta-analysis of 000 samples identifies seven novel loci for quantitative ECG traits |
10 |
| Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes |
10 |
| 1 in 38 individuals at risk of a dominant medically actionable disease |
9 |
| Fetal fraction evaluation in non-invasive prenatal screening (NIPS) |
9 |
| Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling |
9 |
| Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes |
9 |
| Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics |
9 |
| Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome |
9 |
| Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries |
9 |
| Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females |
9 |
| Skewed X-inactivation is common in the general female population |
9 |
| Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care |
9 |
| The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results |
8 |
| Points to consider for laboratories reporting results from diagnostic genomic sequencing |
8 |
| Mendelian randomization reveals unexpected effects of CETP on the lipoprotein profile |
8 |
| Perceptions of genetic variant reclassification in patients with inherited cardiac disease |
8 |
| Biallelic variants in KIF14 cause intellectual disability with microcephaly |
8 |
| Primary brain calcification: an international study reporting novel variants and associated phenotypes |
8 |
| Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation |
8 |
| Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients |
7 |
