| <i>ISCA2</i>mutation causes infantile neurodegenerative mitochondrial disorder |
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| Novel role for non-homologous end joining in the formation of double minutes in methotrexate-resistant colon cancer cells |
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| Homozygous missense mutation in<i>MED25</i>segregates with syndromic intellectual disability in a large consanguineous family |
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| Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes |
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| Mitochondrial mutations associated with aminoglycoside ototoxicity and hearing loss susceptibility identified by meta-analysis |
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| Mendelian randomisation applied to drug development in cardiovascular disease: a review |
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| Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes |
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| <i>CTNND2</i>—a candidate gene for reading problems and mild intellectual disability |
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| <i>WWOX</i>-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation |
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| Mutations in<i>SPECC1L</i>, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome |
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| Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement |
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| Exhaustive methylation analysis revealed uneven profiles of methylation at<i>IGF2/</i>ICR1<i>/H19</i>11p15 loci in Russell Silver syndrome |
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| Next-generation sequencing of nine atrial fibrillation candidate genes identified novel de novo mutations in patients with extreme trait of atrial fibrillation |
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| Pseudogene in cancer: real functions and promising signature |
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| Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations |
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| <i>EIF4G1</i>is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts: Table1 |
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✓ |
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large European cohorts |
| Genomic variations integrated database for<i>MUTYH</i>-associated adenomatous polyposis |
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| Differential increases of specific<i>FMR1</i>mRNA isoforms in premutation carriers |
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| Recent advances in primary ciliary dyskinesia genetics |
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| Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy |
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| Intake levels of dietary polyunsaturated fatty acids modify the association between the genetic variation in<i>PCSK5</i>and HDL cholesterol |
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| International requirements for consent in biobank research: qualitative review of research guidelines |
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| Whole exome sequencing in family trios reveals<i>de novo</i>mutations in<i>PURA</i>as a cause of severe neurodevelopmental delay and learning disability |
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| Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 |
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| Absent expression of the osteoblast-specific maternally imprinted genes,<i>DLX5</i>and<i>DLX6,</i>causes split hand/split foot malformation type I |
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| Mutation in<i>PLK4</i>, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism |
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| <i>OTX2</i>mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium |
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| Tumour<i>MLH1</i>promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC) |
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| Clinical interpretation of CNVs with cross-species phenotype data |
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| Factors determining penetrance in familial atypical haemolytic uraemic syndrome |
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| <i>De novo</i>and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder |
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| Defining and managing incidental findings in genetic and genomic practice |
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| Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis |
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| Rare and low-frequency variants in human common diseases and other complex traits |
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| Exome sequencing identifies<i>SLC17A9</i>pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis |
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| Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing |
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| Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy |
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| Moving beyond genetics: is<i>FAM13A</i>a major biological contributor in lung physiology and chronic lung diseases? |
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| Genotype phenotype associations across the voltage-gated sodium channel family |
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| Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update |
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| Correction |
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| The clinical significance of small copy number variants in neurodevelopmental disorders |
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| Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism |
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| Juvenile myelomonocytic leukaemia and Noonan syndrome |
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| Comprehensive genotype–phenotype correlations between<i>NLRP7</i>mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation |
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| Genetic architectures of ADME genes in five Eurasian admixed populations and implications for drug safety and efficacy |
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| A novel missense mutation in<i>CCDC88C</i>activates the JNK pathway and causes a dominant form of spinocerebellar ataxia |
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| Neurodevelopmental disorders associated with dosage imbalance of<i>ZBTB20</i>correlate with the morbidity spectrum of ZBTB20 candidate target genes |
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| Human transgenerational responses to early-life experience: potential impact on development, health and biomedical research |
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| Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance |
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| Expansion of the clinical phenotype associated with mutations in<i>activity-dependent neuroprotective protein</i> |
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| TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly |
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| Long-term prospective clinical follow-up after<i>BRCA1/2</i>presymptomatic testing:<i>BRCA2</i>risks higher than in adjusted retrospective studies |
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| Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation |
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| Genetic variants within the second intron of the<i>KCNQ1</i>gene affect CTCF binding and confer a risk of Beckwith–Wiedemann syndrome upon maternal transmission |
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| Mutations in<i>HAO1</i>encoding glycolate oxidase cause isolated glycolic aciduria |
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| Whole exome sequencing of familial hypercholesterolaemia patients negative for<i>LDLR</i>/<i>APOB</i>/<i>PCSK9</i>mutations |
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| A genome-wide association study of serum levels of prostate-specific antigen in the Japanese population |
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| Correction |
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| Correction |
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| High risk of tobacco-related cancers in<i>CDKN2A</i>mutation-positive melanoma families |
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| <i>SLC39A5</i>mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia |
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| Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases |
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| Mutations in<i>SETD2</i>cause a novel overgrowth condition |
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| Involvement of the kinesin family members<i>KIF4A</i>and<i>KIF5C</i>in intellectual disability and synaptic function |
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| Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations |
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| Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6 |
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| A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome |
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| Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair |
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| HLA alleles as biomarkers of high-titre neutralising antibodies to interferon-β therapy in multiple sclerosis |
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| A missense mutation in the splicing factor gene<i>DHX38</i>is associated with early-onset retinitis pigmentosa with macular coloboma |
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| Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD) |
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| Pathogenic mutations in<i>GLI2</i>cause a specific phenotype that is distinct from holoprosencephaly |
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| A novel stop mutation in the vascular endothelial growth factor-C gene (<i>VEGFC</i>) results in Milroy-like disease |
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| The PKU Paradox: A Short History of a Genetic Disease |
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| Haplotypes of the inducible nitric oxide synthase gene are strongly associated with exhaled nitric oxide levels in adults: a population-based study |
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| A familial disorder of altered DNA-methylation |
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| A meta-analysis identifies adolescent idiopathic scoliosis association with<i>LBX1</i>locus in multiple ethnic groups |
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| Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum |
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| <i>ADAP2</i>in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome |
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| A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in<i>C9orf72</i>reveals marked differences in results among 14 laboratories |
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| Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia |
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| <i>RB1</i>mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients |
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| Variable phenotypic expression of COG6 mutations |
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| Genome-wide association study identifies new disease loci for isolated clubfoot |
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| Expanding the clinical phenotype of COG6 deficiency |
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| A comprehensive association analysis confirms<i>ZMIZ1</i>to be a susceptibility gene for vitiligo in Chinese population |
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| Mutation in<i>KANK2</i>, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair |
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| Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of<i>DICER1</i>cause GLOW syndrome |
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| Mapping of hepatic expression quantitative trait loci (eQTLs) in a Han Chinese population |
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| Genome-wide association study of smoking behaviours among Bangladeshi adults |
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| CGG allele size somatic mosaicism and methylation in<i>FMR1</i>premutation alleles |
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| <i>VPS53</i>mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2) |
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| <i>POMK</i>mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability |
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| Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D) |
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| Heterozygous mutations in the T (brachyury) gene |
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| Correction |
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| Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes |
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| Functional analysis of<i>MSH2</i>unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair |
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| Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for<i>DYNC1I1</i>exonic enhancers of<i>DLX5/6</i>expression in humans |
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| Normal and aberrant splicing of<i>LMNA</i> |
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| A splice donor mutation in<i>NAA10</i>results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome |
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| Truncating mutations in<i>TAF4B</i>and<i>ZMYND15</i>causing recessive azoospermia |
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| A novel immunodeficiency syndrome associated with partial trisomy 19p13 |
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| Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation |
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| Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility |
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| A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by<i>KCNJ11</i>mutation |
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| Prenylation defects in inherited retinal diseases |
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| NECAP1 loss of function leads to a severe infantile epileptic encephalopathy |
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| <i>Methyl-CpG-binding protein 2</i>(<i>MECP2</i>) mutation type is associated with disease severity in Rett syndrome |
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| Whole exome sequencing identifies de novo mutations in<i>GATA6</i>associated with congenital diaphragmatic hernia |
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