| The X chromosome and male infertility |
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| Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21 |
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✓ |
✓ |
✓ |
European and Colombian families; Colombian families; Latin American ancestry; ancestry differences; populations with diverse ancestry |
| Maternal genetic diseases: potential concerns for mother and baby |
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| A powerful fine-mapping method for transcriptome-wide association studies |
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| Alternative splicing in aging and longevity |
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| Identifying common genome-wide risk genes for major psychiatric traits |
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| Regulatory genome variants in human susceptibility to infection |
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| Editors’ Note to: EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population |
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✓ |
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Eurasian population |
| MS/MS in silico subtraction-based proteomic profiling as an approach to facilitate disease gene discovery: application to lens development and cataract |
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| Copy number variation profiling in pharmacogenes using panel-based exome resequencing and correlation to human liver expression |
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| Fondness for sugars of enteric viruses confronts them with human glycans genetic diversity |
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| Mx genes: host determinants controlling influenza virus infection and trans-species transmission |
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| The current and future impact of genome-wide sequencing on fetal precision medicine |
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| Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD) |
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| Exploring the interactions between the human and viral genomes |
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| Genetics of leprosy: today and beyond |
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| Genetic and epigenetic Muller’s ratchet as a mechanism of frailty and morbidity during aging: a demographic genetic model |
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| Considerations for whole exome sequencing unique to prenatal care |
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| High-throughput transcriptome analysis reveals that the loss of Pten activates a novel NKX6-1/RASGRP1 regulatory module to rescue microphthalmia caused by Fgfr2-deficient lenses |
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| Expanded carrier screening: counseling and considerations |
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| Mutational signatures and mutagenic impacts associated with betel quid chewing in oral squamous cell carcinoma |
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| The genetic landscape of the human solute carrier (SLC) transporter superfamily |
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✓ |
✓ |
ethnogeographic, inter-ethnic, population-specific, Jewish individuals, East Asians, Finns, seven ma |
| Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype |
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| Widespread sex dimorphism in aging and age-related diseases |
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| A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation |
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| Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair |
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| Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses |
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| First genome-wide association study of non-severe malaria in two birth cohorts in Benin |
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| The significance of the placental genome and methylome in fetal and maternal health |
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| Special issue on ‘Genetic epidemiology of complex diseases: impact of population history and modelling assumptions’ |
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| Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis |
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| A different view on fine-scale population structure in Western African populations |
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| Arteriovenous malformation associated with a HRAS mutation |
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| Legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample collections into biobanks |
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| CRISPR/Cas9 facilitates genomic editing for large-scale functional studies in pluripotent stem cell cultures |
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| Characterization of GJB2 cis-regulatory elements in the DFNB1 locus |
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| Noninvasive prenatal testing: from aneuploidy to single genes |
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| Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder |
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| MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy |
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| Long-read sequencing in deciphering human genetics to a greater depth |
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| Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia |
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| Rare variants in FANCA induce premature ovarian insufficiency |
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✓ |
✓ |
Han Chinese |
| Discovery of shared genomic loci using the conditional false discovery rate approach |
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| GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates |
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| Looking to the future of zebrafish as a model to understand the genetic basis of eye disease |
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| Through the looking glass: eye anomalies in the age of molecular science |
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| Editorial to the special issue on “Molecular Genetics of Developmental Eye Disorders” |
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| Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish |
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| Correction to: Is population structure in the genetic biobank era irrelevant, a challenge, or an opportunity? |
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| Genetic architecture of retinoic-acid signaling-associated ocular developmental defects |
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| Correction to: Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories |
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| Ancestry-specific polygenic scores and SNP heritability of 25(OH)D in African- and European-ancestry populations |
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✓ |
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✓ |
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European-ancestry populations; African-ancestry populations |
| The rare 13q33–q34 microdeletions: eight new patients and review of the literature |
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| Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories |
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| Identifying causal variants and genes using functional genomics in specialized cell types and contexts |
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| DNA damage in aging, the stem cell perspective |
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| MicroRNAs as modulators of longevity and the aging process |
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| Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer |
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| Autosomal recessive diseases among the Israeli Arabs |
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| COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans |
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| Genetic associations of breast and prostate cancer are enriched for regulatory elements identified in disease-related tissues |
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| Evolutionary perspectives on polygenic selection, missing heritability, and GWAS |
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| Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, and Sheila Unger: Bone dysplasias: an atlas of genetic disorders of skeletal development |
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| Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3 |
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| A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss |
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| Misassembly of long reads undermines de novo-assembled ethnicity-specific genomes: validation in a Chinese Han population |
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| Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer |
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| Missing heritability of complex diseases: case solved? |
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| Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information |
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| Correction to: Therapeutic application of the CRISPR system: current issues and new prospects |
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| Mind the gap: resources required to receive, process and interpret research-returned whole genome data |
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| Autophagy in aging and longevity |
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| Epidemiology, genetic epidemiology and Mendelian randomisation: more need than ever to attend to detail |
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| Insights into the loss of the Y chromosome with age in control individuals and in patients with age-related macular degeneration using genotyping microarray data |
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| Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway |
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| Therapeutic application of the CRISPR system: current issues and new prospects |
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| Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution |
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| Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy |
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| An update on the genetics of ocular coloboma |
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| A commonly occurring genetic variant within the NPLOC4–TSPAN10–PDE6G gene cluster is associated with the risk of strabismus |
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| Gene pathogenicity prediction of Mendelian diseases via the random forest algorithm |
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| De novo emergence and potential function of human-specific tandem repeats in brain-related loci |
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| Special issue on canine genetics: animal models for human disease and gene therapies, new discoveries for canine inherited diseases, and standards and guidelines for clinical genetic testing for domes |
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| Predicting copper toxicosis: relationship between the ATP7A and ATP7B gene mutations and hepatic copper quantification in dogs |
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| Statistical learning approaches in the genetic epidemiology of complex diseases |
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| Personalized medicine: going to the dogs? |
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| Is population structure in the genetic biobank era irrelevant, a challenge, or an opportunity? |
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| Identification of placental genes linked to selective intrauterine growth restriction (IUGR) in dichorionic twin pregnancies: gene expression profiling study |
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| RETRACTED ARTICLE: EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population |
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|
Eurasian population |
| The Four Horsemen of the ‘Omicsalypse’: ontology, replicability, probability and epistemology |
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| Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines |
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| Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly |
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| Prediction of skin color, tanning and freckling from DNA in Polish population: linear regression, random forest and neural network approaches |
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✓ |
|
Polish population |
| Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies |
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| A review of gene-by-air pollution interactions for cardiovascular disease, risk factors, and biomarkers |
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| Mutation signatures in germline mitochondrial genome provide insights into human mitochondrial evolution and disease |
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| Whole-exome sequencing identified four loci influencing craniofacial morphology in northern Han Chinese |
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| Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype |
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| On the relationship between the heritability and the attributable fraction |
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| Mouse models for microphthalmia, anophthalmia and cataracts |
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| A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions |
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| Genetic kinship and admixture in Iron Age Scytho-Siberians |
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| OpenMendel: a cooperative programming project for statistical genetics |
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| Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds |
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| Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals |
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| Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants |
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| The metabolic network coherence of human transcriptomes is associated with genetic variation at the cadherin 18 locus |
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| A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds |
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| How to increase our belief in discovered statistical interactions via large-scale association studies? |
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| Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33 |
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| Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders |
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| Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation |
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| A response to “Personalised medicine and population health: breast and ovarian cancer” |
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| Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer |
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| Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injections |
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| Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders |
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| Shared genetic architecture between metabolic traits and Alzheimer’s disease: a large-scale genome-wide cross-trait analysis |
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| Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype |
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| Author response to “a response to ‘personalised medicine and population health: breast and ovarian cancer’” |
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| Correction to: Gene therapies in canine models for Duchenne muscular dystrophy |
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| Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis |
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| PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly |
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| Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia |
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| NUP214 deficiency causes severe encephalopathy and microcephaly in humans |
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| Gene therapies in canine models for Duchenne muscular dystrophy |
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| A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death |
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| Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus |
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| Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectives |
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| LncRNA ZBTB40-IT1 modulated by osteoporosis GWAS risk SNPs suppresses osteogenesis |
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| Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data |
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| Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and c |
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| New insights into the genetics of spermatogenic failure: a review of the literature |
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| Integrative genomic analysis predicts novel functional enhancer-SNPs for bone mineral density |
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| Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome |
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| Prospects and modalities for the treatment of genetic ocular anomalies |
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| Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype–phenotype correlations |
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