| De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment |
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| The contribution of parent-to-offspring transmission of telomeres to the heritability of telomere length in humans |
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| A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension |
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| Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions |
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| Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
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| Chromosome 18 gene dosage map 2.0 |
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| SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy |
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| Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations |
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| RNA sequencing-based transcriptomic profiles of embryonic lens development for cataract gene discovery |
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| Standards and guidelines for canine clinical genetic testing laboratories |
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| Genetic association and differential expression of PITX2 with acute appendicitis |
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| Human eye conditions: insights from the fly eye |
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| The RNA world of human ageing |
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| Ways of improving precise knock-in by genome-editing technologies |
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| “Gardner and Sutherland’s chromosome abnormalities and genetic counseling” by R.J. McKinlay Gardner, David J. Amor. Oxford University Press |
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| Mixed Blessings from a Cambridge Union, Elizabeth N Anionwu |
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| Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype |
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| Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes |
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| Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmia |
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| The impact of GJA8 SNPs on susceptibility to age-related cataract |
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| Personalised medicine and population health: breast and ovarian cancer |
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| Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations |
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| Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci |
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✓ |
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European ancestry |
| Implication of non-coding PAX6 mutations in aniridia |
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| Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder |
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| De novo unbalanced translocations have a complex history/aetiology |
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| Rare loss of function variants in candidate genes and risk of colorectal cancer |
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| The genetic architecture of aniridia and Gillespie syndrome |
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| Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy |
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| Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis |
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| Correction to: The study of human Y chromosome variation through ancient DNA |
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| Application of CRISPR/Cas9 technologies combined with iPSCs in the study and treatment of retinal degenerative diseases |
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| Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes |
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| Non-coding RNAs in retinal development and function |
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| Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) |
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| Correction to: Australia: regulating genomic data sharing to promote public trust |
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| Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability |
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| Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease |
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Ashkenazi Jewish |
| South Korea: in the midst of a privacy reform centered on data sharing |
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| Australia: regulating genomic data sharing to promote public trust |
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| Germany: a fair balance between scientific freedom and data subjects’ rights? |
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| Correction to: Canada: will privacy rules continue to favour open science? |
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| Conclusion: harmonisation in genomic and health data sharing for research: an impossible dream? |
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| Correction to: China: concurring regulation of cross-border genomic data sharing for statist control and individual protection |
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| Introduction: the why and whither of genomic data sharing |
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| Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression |
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| United Kingdom: transfers of genomic data to third countries |
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| United States: law and policy concerning transfer of genomic data to third countries |
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| International data-sharing norms: from the OECD to the General Data Protection Regulation (GDPR) |
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| Multiplexed assays of variant effects contribute to a growing genotype–phenotype atlas |
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| The hedgehog pathway and ocular developmental anomalies |
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| Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis |
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| Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis |
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| 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 |
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| A genome scan for genes underlying adult body size differences between Central African hunter-gatherers and farmers |
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| China: concurring regulation of cross-border genomic data sharing for statist control and individual protection |
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| Canada: will privacy rules continue to favour open science? |
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| Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas |
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| Integrated analysis of human genetic association study and mouse transcriptome suggests LBH and SHF genes as novel susceptible genes for amyloid-β accumulation in Alzheimer’s disease |
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| Admixture mapping and fine-mapping of birth weight loci in the Black Women’s Health Study |
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| Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences |
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| MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss |
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| Expanding the phenotype of the X-linked BCOR microphthalmia syndromes |
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| Genetics of congenital eye malformations: insights from chick experimental embryology |
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| A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment |
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| IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis |
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| De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness |
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| A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss |
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| Genotype imputation for Han Chinese population using Haplotype Reference Consortium as reference |
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Han Chinese population |
| De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies |
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| Correction to: Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study |
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| Leveraging epigenomics and contactomics data to investigate SNP pairs in GWAS |
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| Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction |
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| Correction to: A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans |
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| De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder |
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| Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions |
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| Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population |
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| High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation |
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| A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans |
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| ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss |
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| Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy |
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| Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer’s disease |
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| Genotype imputation performance of three reference panels using African ancestry individuals |
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| Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes |
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| Congenital glaucoma and CYP1B1: an old story revisited |
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| De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities |
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| New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies |
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| Inferring causal relationships between phenotypes using summary statistics from genome-wide association studies |
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| Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management |
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| Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK–neurexin interaction |
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| Robust identification of mosaic variants in congenital heart disease |
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| Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort |
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| Pathway-induced allelic spectra of diseases in the presence of strong genetic effects |
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| Deep sequencing of the mitochondrial genome reveals common heteroplasmic sites in NADH dehydrogenase genes |
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| Importance of complete phenotyping in prenatal whole exome sequencing |
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| Genomic structure of the native inhabitants of Peninsular Malaysia and North Borneo suggests complex human population history in Southeast Asia |
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| Identification of rare RTN3 variants in Alzheimer’s disease in Han Chinese |
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| Reconstructing the demographic history of the Himalayan and adjoining populations |
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| Complex signatures of natural selection at GYPA |
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| Genomic trade-offs: are autism and schizophrenia the steep price of the human brain? |
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| De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism |
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| The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management |
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