| <i>NOTCH2</i>mutations in Alagille syndrome |
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| Mutations in<i>PRRT2</i>result in paroxysmal dyskinesias with marked variability in clinical expression |
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| Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including<i>NDUFB9</i> |
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| A bias-reducing pathway enrichment analysis of genome-wide association data confirmed association of the MHC region with schizophrenia |
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| Replication of association of<i>DENND1A</i>and<i>THADA</i>variants with polycystic ovary syndrome in European cohorts |
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✓ |
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European cohorts |
| Further clinical and molecular delineation of the 15q24 microdeletion syndrome |
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| A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features |
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| Complete loss of expression of the<i>ANT1</i>gene causing cardiomyopathy and myopathy |
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| <i>CHRNG</i>genotype–phenotype correlations in the multiple pterygium syndromes |
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| Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome |
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| Duplications of<i>BHLHA9</i>are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion |
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| A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation |
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| Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study |
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| Targeted genomic sequencing identifies<i>PRRT2</i>mutations as a cause of paroxysmal kinesigenic choreoathetosis |
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| Identification of a novel<i>DLX5</i>mutation in a family with autosomal recessive split hand and foot malformation |
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| Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a<i>PKD2</i>missense mutation due to uniparental disomy |
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| Defective NDUFA9 as a novel cause of neonatally fatal complex I disease |
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| CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women |
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| Genetic basis of pain variability: recent advances |
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| Linkage and association analyses of glaucoma related traits in a large pedigree from a Dutch genetically isolated population |
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| Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions |
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| Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development |
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| Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping |
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| Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability |
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| Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions |
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| Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome) |
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| Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome |
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| Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity |
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| Fetal akinesia: review of the genetics of the neuromuscular causes |
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| Clinical validity of karyotyping for the diagnosis of chromosomal imbalance following array comparative genomic hybridisation |
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| Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes |
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| De novo copy number variants associated with intellectual disability have a paternal origin and age bias |
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| Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform |
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| Phenotypic spectrum associated with CASK loss-of-function mutations |
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| Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers |
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| New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases |
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| Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes |
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| New clinical genetics--2nd edition |
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| Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletion |
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| Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification |
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✓ |
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Mexican-Nahua |
| Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy |
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| Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease |
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| Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene |
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| Lessons from predictive testing for Huntington disease: 25 years on |
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| The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain |
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| 7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium |
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| Mitochondrial DNA polymerase mutations: an ever expanding molecular and clinical spectrum |
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| Autosomal recessive cerebellar ataxias: the current state of affairs |
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| A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing |
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| Identification of ADAMTS18 as a gene mutated in Knobloch syndrome |
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| Exome diagnostics: already a reality? |
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| Studying the epigenome using next generation sequencing |
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| Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations |
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| Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype |
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| Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband |
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| Association of a genetic variant of BTN2A1 with metabolic syndrome in East Asian populations |
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| Correction |
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| Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease |
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| The FOXE1 and NKX2-1 loci are associated with susceptibility to papillary thyroid carcinoma in the Japanese population |
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| What can exome sequencing do for you? |
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| Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation |
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| Identification of quantitative trait loci for murine autoimmune pancreatitis |
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| A RaDiCAL approach to gene discovery |
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| Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome |
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| Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon |
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| Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27 |
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| Prevalence of BRCA1 and BRCA2 mutations in triple negative breast cancer |
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| XX males SRY negative: a confirmed cause of infertility |
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| Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis: a plea for the protein truncation test |
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| Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features |
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| NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage |
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| Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations |
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| Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues |
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| A role for XRCC2 gene polymorphisms in breast cancer risk and survival |
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| Determining the frequency of de novo germline mutations in DNA mismatch repair genes |
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| Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability |
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| Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome |
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| Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumour |
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| Array comparative genomic hybridisation on first polar bodies suggests that non-disjunction is not the predominant mechanism leading to aneuploidy in humans |
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| Correction |
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| MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease |
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| Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease |
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| Genome-wide linkage and association mapping identify susceptibility alleles in ABCC4 for Kawasaki disease |
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| The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells |
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| Special issue on structural genomic alterations: ready for prime time |
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| Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia |
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| Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1 |
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| FOXN1 mutation abrogates prenatal T-cell development in humans |
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| Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN |
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| Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways |
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✓ |
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European isolated populations |
| The genetics of panic disorder |
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| RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects |
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| Revisiting genome wide association studies (GWAS) in coeliac disease: replication study in Spanish population and expression analysis of candidate genes |
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| Correction |
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| Association of HLA class I markers with multiple sclerosis in the Italian and UK population: evidence of two independent protective effects |
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| The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis |
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| Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions |
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| Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues? |
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| Germline PALB2 mutation analysis in breast-pancreas cancer families |
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| Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia |
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| Screening patients referred to a metabolic clinic for lysosomal storage disorders |
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| Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing |
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| Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita |
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| Identification of clinically relevant mosaicism in type I hereditary haemorrhagic telangiectasia |
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| Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma |
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| Kearns-Sayre syndrome caused by defective R1/p53R2 assembly |
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| C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome |
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| CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype |
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| Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients |
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| Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features |
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| Gastrointestinal polyps in McCune Albright syndrome |
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| Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa |
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| Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia |
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| A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family |
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| Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype |
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| The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome |
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| Correction |
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| Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK |
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| Correction |
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| A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis |
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| A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations |
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| High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia |
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| Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset |
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| Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation |
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| LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency |
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| DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome |
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| Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population |
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| Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype |
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| Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3 |
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| What did we learn from the genome-wide association study for tuberculosis susceptibility? |
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| Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice |
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| Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact |
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| Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita |
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