| Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectives |
22 |
| New insights into the genetics of spermatogenic failure: a review of the literature |
16 |
| The genetic landscape of the human solute carrier (SLC) transporter superfamily |
14 |
| The ubiquity of pleiotropy in human disease |
14 |
| LncRNA ZBTB40-IT1 modulated by osteoporosis GWAS risk SNPs suppresses osteogenesis |
13 |
| International data-sharing norms: from the OECD to the General Data Protection Regulation (GDPR) |
12 |
| Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia |
11 |
| Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia |
10 |
| Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus |
10 |
| Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype |
10 |
| Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia |
10 |
| An update on the genetics of ocular coloboma |
10 |
| The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease |
9 |
| De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism |
9 |
| Multiplexed assays of variant effects contribute to a growing genotype-phenotype atlas |
9 |
| The RNA world of human ageing |
9 |
| Importance of complete phenotyping in prenatal whole exome sequencing |
9 |
| Rare variants in FANCA induce premature ovarian insufficiency |
9 |
| Next-generation sequencing reveals genetic landscape in XY disorders of sexual development patients with variable phenotypes |
8 |
| Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy |
8 |
| Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction |
8 |
| RNA sequencing-based transcriptomic profiles of embryonic lens development for cataract gene discovery |
8 |
| Novel mutations in ZP ZP and ZP3 cause female infertility due to abnormal zona pellucida formation |
8 |
| Shared genetic architecture between metabolic traits and Alzheimer's disease: a large-scale genome-wide cross-trait analysis |
8 |
| PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly |
8 |
| Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) |
8 |
| Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis |
8 |
| A review of gene-by-air pollution interactions for cardiovascular disease, risk factors, and biomarkers |
7 |
| New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies |
7 |
| Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes |
7 |
| Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability |
7 |
| Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders |
7 |
| Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations |
7 |
| Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes |
7 |
| The contribution of parent-to-offspring transmission of telomeres to the heritability of telomere length in humans |
7 |
| Robust identification of mosaic variants in congenital heart disease |
7 |
| Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer |
7 |
| Long-read sequencing in deciphering human genetics to a greater depth |
7 |
| Canada: will privacy rules continue to favour open science? |
6 |
| Personalised medicine and population health: breast and ovarian cancer |
6 |
| Conclusion: harmonisation in genomic and health data sharing for research: an impossible dream? |
6 |
| Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci |
6 |
| De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness |
6 |
| Actionable secondary findings from whole-genome sequencing of 954 East Asians |
6 |
| Application of CRISPR/Cas9 technologies combined with iPSCs in the study and treatment of retinal degenerative diseases |
6 |
| The hedgehog pathway and ocular developmental anomalies |
6 |
| The genetic architecture of aniridia and Gillespie syndrome |
6 |
| Congenital glaucoma and CYP1B1: an old story revisited |
6 |
| Therapeutic application of the CRISPR system: current issues and new prospects |
6 |
| Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly |
6 |
