| Liquid biopsy in breast cancer: A comprehensive review |
30 |
| Genetics of hypertrophic cardiomyopathy: A review of current state |
19 |
| Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders |
19 |
| Clinical sequencing: From raw data to diagnosis with lifetime value |
17 |
| Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients |
16 |
| Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease |
16 |
| Digenic inheritance and genetic modifiers |
15 |
| Axenfeld-Rieger syndrome |
15 |
| TSGA10 is a novel candidate gene associated with acephalic spermatozoa |
14 |
| Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics |
14 |
| Epilepsy genetics: Current knowledge, applications, and future directions |
14 |
| Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact |
13 |
| Variants in CIB2 cause DFNB48 and not USH1J |
13 |
| Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies |
13 |
| Genomic disorders 20 years onmechanisms for clinical manifestations |
13 |
| Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms |
13 |
| Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases |
13 |
| Clinical experience with a single-nucleotide polymorphism-based non-invasive prenatal test for five clinically significant microdeletions |
13 |
| Long non-coding RNAs differential expression in breast cancer subtypes: What do we know? |
12 |
| Metformin as targeted treatment in fragile X syndrome |
12 |
| Effect of inbreeding on intellectual disability revisited by trio sequencing |
12 |
| Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease |
11 |
| Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy |
11 |
| Pharmacogenetics: A strategy for personalized medicine for autoimmune diseases |
11 |
| Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients |
11 |
| Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry |
10 |
| Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system |
10 |
| DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella |
10 |
| Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement |
10 |
| Molecular genetics of hypospadias and cryptorchidism recent developments |
10 |
| The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers |
10 |
| Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity |
9 |
| Genetic investigation of 93 families with microphthalmia or posterior microphthalmos |
9 |
| Review of patient decision-making factors and attitudes regarding preimplantation genetic diagnosis |
9 |
| Lack of clear and univocal genotype-phenotype correlation in familial Mediterranean fever patients: A systematic review |
9 |
| Fragile X syndrome: An overview and update of the FMR1 gene |
9 |
| Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families |
9 |
| FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations |
9 |
| IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences |
9 |
| Protein misfolding diseases: Prospects of pharmacological treatment |
8 |
| Mechanisms of Mendelian dominance |
8 |
| Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits |
8 |
| Application of next-generation sequencing to improve cancer management: A review of the clinical effectiveness and cost-effectiveness |
8 |
| Biallelic mutations in PMFBP1 cause acephalic spermatozoa |
8 |
| Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome |
8 |
| The genetic pathogenesis, diagnosis and therapeutic insight of rheumatoid arthritis |
8 |
| A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing |
8 |
| Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome |
8 |
| Clinical genetic testing in pediatric cardiomyopathy: Is bigger better? |
8 |
| NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect |
8 |
