| Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations |
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| Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction |
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| Mutation of HERC2 causes developmental delay with Angelman-like features |
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| Variants of Uncertain Significance in<i>BRCA1</i>and<i>BRCA2</i>assessment of in silico analysis and a proposal for communication in genetic counselling |
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| Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS |
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| Mutation in<i>MPDZ</i>causes severe congenital hydrocephalus |
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| <i>IL12B</i>SNPs and copy number variation in<i>IL23R</i>gene associated with susceptibility to leprosy |
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| Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the<i>IFITM5</i>c.−14C>T mutation in all patients |
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| Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance |
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| Human diseases versus mouse models: insights into the regulation of genomic imprinting at the human 11p15/mouse distal chromosome 7 region |
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| High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing |
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| Corrections |
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| <i>EFTUD2</i>haploinsufficiency leads to syndromic oesophageal atresia |
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| A homozygous mutation of<i>C12orf65</i>causes spastic paraplegia with optic atrophy and neuropathy (SPG55) |
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| Corrections |
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| Identification of a functional variant in the<i>KIF5A-CYP27B1-METTL1-FAM119B</i>locus associated with multiple sclerosis |
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| Whole exome sequencing identified a novel zinc-finger gene<i>ZNF141</i>associated with autosomal recessive postaxial polydactyly type A |
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| Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime |
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| An Italian association study and meta-analysis with previous GWAS confirm<i>WNT4</i>,<i>CDKN2BAS</i>and<i>FN1</i>as the first identified susceptibility loci for endometriosis |
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| Comprehensive genomic analyses associate<i>UGT8</i>variants with musical ability in a Mongolian population |
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| Novel<i>KIF7</i>mutations extend the phenotypic spectrum of acrocallosal syndrome |
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| A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants |
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| Risk of malignant paraganglioma in SDHB-mutation and SDHD-mutation carriers: a systematic review and meta-analysis |
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| The<i>DYRK1A</i>gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy |
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| Exome sequencing identified a missense mutation of<i>EPS8L3</i>in Marie Unna hereditary hypotrichosis |
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| De novo copy number variants are associated with congenital diaphragmatic hernia |
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| Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by<i>TMEM38B</i>mutation |
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| Corrections |
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| Rare variants in XRCC2 as breast cancer susceptibility alleles: Table 1 |
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| A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders |
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| A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm |
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| Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia |
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| Distinct and replicable genetic risk factors for acute respiratory distress syndrome of pulmonary or extrapulmonary origin |
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| Corrections |
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| Epigenetic state and expression of imprinted genes in umbilical cord correlates with growth parameters in human pregnancy |
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| Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events |
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| Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus |
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| The speech gene<i>FOXP2</i>is not imprinted |
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| SNVerGUI: a desktop tool for variant analysis of next-generation sequencing data |
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| Antenatal spectrum of CHARGE syndrome in 40 fetuses with<i>CHD7</i>mutations |
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| Mutations in<i>TMEM231</i>cause Joubert syndrome in French Canadians |
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| Multiple sequence variants of<i>BRCA2</i>exon 7 alter splicing regulation |
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| Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation |
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| Exome sequencing identifies a<i>COL14A1</i>mutation in a large Chinese pedigree with punctate palmoplantar keratoderma |
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| Closing the case of<i>APOE</i>in multiple sclerosis: no association with disease risk in over 29 000 subjects: Figure 1 |
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| Gene expression as a quantitative trait: what about translation? |
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| Correction |
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| Prediction of breast cancer risk by genetic risk factors, overall and by hormone receptor status |
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| Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia |
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| Recessive germline<i>SDHA</i>and<i>SDHB</i>mutations causing leukodystrophy and isolated mitochondrial complex II deficiency |
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| Complex I deficiency: clinical features, biochemistry and molecular genetics |
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| Miglustat as a therapeutic agent: prospects and caveats |
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| X-exome sequencing identifies a<i>HDAC8</i>variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face |
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| Quantitative trait locus analysis for next-generation sequencing with the functional linear models |
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| A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1 |
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| Neurofibromatosis type 1: from genotype to phenotype |
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| Public funding for genomics: where does Canada stand? |
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| BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk |
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| A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated? |
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| Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature |
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| <i>PAPSS2</i>mutations cause autosomal recessive brachyolmia |
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| Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes |
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| Genotypic and phenotypic analysis of 396 individuals with mutations in<i>Sonic Hedgehog</i> |
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| Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel<i>SHOX</i>enhancer |
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| Homozygous deletion of Tenascin-R in a patient with intellectual disability |
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| Targeting branch sites of new exons? |
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| Microduplications upstream of<i>MSX2</i>are associated with a phenocopy of cleidocranial dysplasia |
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| A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis |
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| Germline<i>DICER1</i>mutation and associated loss of heterozygosity in a pineoblastoma: Figure 1 |
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| wANNOVAR: annotating genetic variants for personal genomes via the web |
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| Translational genomic medicine: common metabolic traits and ancestral components of Mexican Americans |
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| Rare<i>TP53</i>genetic variant associated with glioma risk and outcome |
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| Novel mutations consolidate<i>KCTD7</i>as a progressive myoclonus epilepsy gene |
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| Intragenic<i>CAMTA1</i>rearrangements cause non-progressive congenital ataxia with or without intellectual disability |
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| Delineation of<i>CCDC39/CCDC40</i>mutation spectrum and associated phenotypes in primary ciliary dyskinesia |
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| A Finnish founder mutation in<i>RAD51D</i>: analysis in breast, ovarian, prostate, and colorectal cancer: Table 1 |
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| Mutation in<i>RAB33B</i>, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve–Melchior–Clausen locus |
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| Germline mutations in the DNA damage response genes<i>BRCA1</i>,<i>BRCA2</i>,<i>BARD1</i>and<i>TP53</i>in patients with therapy related myeloid neoplasms |
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| Indication for<i>CDKN2A</i>-mutation analysis in familial pancreatic cancer families without melanomas |
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| Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of<i>FOXG1</i>appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly |
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| Clinical application of exome sequencing in undiagnosed genetic conditions |
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| Disruption of RAB40AL function leads to Martin–Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder |
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| Mutations in<i>WNT10A</i>are present in more than half of isolated hypodontia cases |
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| A novel defect of peroxisome division due to a homozygous non-sense mutation in the<i>PEX11β</i>gene |
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| Prostate cancer risk assessment model: a scoring model based on the Swedish Family-Cancer Database |
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| A human laterality disorder associated with recessive<i>CCDC11</i>mutation |
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| Whole exome sequencing identifies a splicing mutation in <i>NSUN2</i> as a cause of a Dubowitz-like syndrome |
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| The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome |
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| First PEX11β patient extends spectrum of peroxisomal biogenesis disorder phenotypes: Table 1 |
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| A paradigm shift in the delivery of services for diagnosis of inherited retinal disease |
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| <i>OTX2</i>mutations contribute to the otocephaly-dysgnathia complex |
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| Exome sequencing identifies mutations in<i>LZTFL1</i>, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly |
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| Mutations in<i>GRIP1</i>cause Fraser syndrome |
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| Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes |
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| The Human Variome Project Beijing meeting |
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| Phenotype difference between ALS patients with expanded repeats in<i>C9ORF72</i>and patients with mutations in other ALS-related genes |
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| A recessive form of Marshall syndrome is caused by a mutation in the<i>COL11A1</i>gene: Figure 1 |
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| An<i>SNX10</i>mutation causes malignant osteopetrosis of infancy |
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| <i>NEK1</i>and<i>DYNC2H1</i>are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases |
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| Identification of<i>YAP1</i>as a novel susceptibility gene for polycystic ovary syndrome |
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| Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele |
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| Keratinocytic epidermal nevi are associated with mosaic<i>RAS</i>mutations |
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| Recessive mutations in<i>MCM4</i>/<i>PRKDC</i>cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair |
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| Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing |
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| Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic cases |
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| Correction |
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| Haploinsufficiency of<i>COQ4</i>causes coenzyme Q<sub>10</sub>deficiency |
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| Single nucleotide polymorphisms in the<i>NOS2</i>and<i>NOS3</i>genes are associated with exhaled nitric oxide |
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| Mutations in<i>DYNC1H1</i>cause severe intellectual disability with neuronal migration defects |
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| Correlation of tumour BRAF mutations and<i>MLH1</i>methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classi |
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| <i>CDKN2A</i>is the main susceptibility gene in Italian pancreatic cancer families |
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| Life expectancy in hereditary cancer predisposing diseases: an observational study |
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| Promoter methylation in coagulation<i>F7</i>gene influences plasma FVII concentrations and relates to coronary artery disease |
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| Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease |
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| Mutations in<i>NLRP7</i>are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles |
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| Thyroid cancer susceptibility polymorphisms: confirmation of loci on chromosomes 9q22 and 14q13, validation of a recessive 8q24 locus and failure to replicate a locus on 5q24 |
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| Genotype–phenotype correlation in<i>CC2D2A</i>-related Joubert syndrome reveals an association with ventriculomegaly and seizures |
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| Unique author identifier; what are we waiting for? |
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| Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation: Figure 1 |
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| Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling |
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