| New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID) |
33 |
| Kabuki syndrome: international consensus diagnostic criteria |
29 |
| Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD |
24 |
| Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy |
20 |
| Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children |
20 |
| Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases |
19 |
| Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank |
19 |
| Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring |
18 |
| Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017 |
18 |
| Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study |
18 |
| Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group |
18 |
| Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome |
16 |
| Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria |
15 |
| Long-read sequencing identified repeat expansions in the 5 ' UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease |
15 |
| Perturbations of BMP/TGF-beta and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM) |
15 |
| Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella |
14 |
| Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF) |
14 |
| Genetic tests in lymphatic vascular malformations and lymphedema |
14 |
| Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma |
14 |
| Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy |
14 |
| Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders |
13 |
| Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes |
13 |
| Genetic obesity: next-generation sequencing results of 1230 patients with obesity |
13 |
| Clinical spectrum and pleiotropic nature of CDH1 germline mutations |
13 |
| DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing |
12 |
| Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients |
12 |
| Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC) |
12 |
| Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada |
11 |
| FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta |
11 |
| Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features |
11 |
| Upregulated immune checkpoint HHLA2 in clear cell renal cell carcinoma: a novel prognostic biomarker and potential therapeutic target |
11 |
| PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature |
11 |
| Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect |
11 |
| Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap |
11 |
| Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome |
11 |
| Retrospective natural history of thymidine kinase 2 deficiency |
11 |
| Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study |
10 |
| Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome |
10 |
| Applications and advances of CRISPR-Cas9 in cancer immunotherapy |
10 |
| Genetics of Parkinson's disease and related disorders |
10 |
| Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest |
10 |
| The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium |
10 |
| Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era |
10 |
| Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population |
10 |
| De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy |
10 |
| Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing |
9 |
| A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features |
9 |
| Risk category system to identify pituitary adenoma patients with AIP mutations |
9 |
| Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis |
9 |
| Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts |
9 |
