| Identification of a recurrent <i><scp>BRCA1</scp></i> exon 21‐22 genomic rearrangement in Malay breast cancer patients |
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|
✓ |
|
Malay |
| Expanding the phenotype of a recurrent <i>de novo</i> variant in <i><scp>PACS1</scp></i> causing intellectual disability |
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| Mutations in <i><scp>FA2H</scp></i> in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis |
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| Disclosure of incidental findings in cancer genomic research: investigators' perceptions on obligations and barriers |
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| <i><scp>BRCA1</scp></i> genetic testing in a Pakistani breast‐ovarian cancer family with multiple consanguineous marriages |
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| Genetic features of Lynch syndrome in the Israeli population |
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| Mutations in <scp>C2CD3</scp> cause oral‐facial‐digital syndrome through deregulation of centriole length |
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| Homozygosity mapping reveals founder <i><scp>SEC23B</scp></i>‐<scp>Y462C</scp> mutations in Indian congenital dyserythropoietic anemia type <scp>II</scp> |
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| Setleis syndrome: clinical, molecular and structural studies of the first <scp>TWIST2</scp> missense mutation |
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| A mutation creating an out‐of‐frame alternative translation initiation site in the <scp><i>GRHPR</i></scp> 5′<scp>UTR</scp> causing primary hyperoxaluria type <scp>II</scp> |
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| <i><scp>MICU1</scp></i> mutation: a genetic cause for a type of neuromuscular disease in children |
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| A duplication of the whole <i><scp>KIAA2022</scp></i> gene validates the gene role in the pathogenesis of intellectual disability and autism |
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| Insights into genotype–phenotype correlations from <i><scp>CREBBP</scp></i> point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients |
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| Response to Cragun et al. |
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| Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with <scp>MCC</scp> deficiency |
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✓ |
✓ |
Chinese |
| Autosomal recessive congenital cataract, intellectual disability phenotype linked to <i><scp>STX3</scp></i> in a consanguineous Tunisian family |
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| Genetics of human isolated hereditary hair loss disorders |
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| Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome |
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| Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome |
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| Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland |
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✓ |
✓ |
Polish women; Polish founder mutations |
| Characterization of a novel founder <i><scp>MSH6</scp></i> mutation causing Lynch syndrome in the French Canadian population |
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✓ |
✓ |
French Canadian; first French settlers; Quebec (population) |
| Frequent occurrence of gastric cancer in Asian kindreds with Li–Fraumeni syndrome |
|
✓ |
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|
✓ |
✓ |
Asian (Asian families) |
| Use of panel tests in place of single gene tests in the cancer genetics clinic |
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| Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults |
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| Collagen type <scp>IV</scp>‐related nephropathies in Portugal: pathogenic <i><scp>COL4A5</scp></i> mutations and clinical characterization of 22 families |
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✓ |
✓ |
Portuguese families |
| The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis‐like phenotype and early onset cancer |
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| Genetics of sudden cardiac death in the young |
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| Patient reported outcomes and patient empowerment in clinical genetics services |
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| Collagen type <scp>IV</scp>‐related nephropathies in Portugal: pathogenic <i><scp>COL4A3</scp></i> and <i><scp>COL4A4</scp></i> mutations and clinical characterization of 25 families |
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| Low utilization of prenatal and pre‐implantation genetic diagnosis in Huntington disease – risk discounting in preventive genetics |
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| Long‐term psychosocial and behavioral adjustment in individuals receiving genetic test results in Lynch syndrome |
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| Consanguinity and founder effect for Gaucher disease mutation <scp>G377S</scp> in a population from Tabuleiro do Norte, Northeastern Brazil |
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| Germline <scp><i>TP5</i>3</scp> mutations is common in patients with two early‐onset primary malignancies |
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| Autism spectrum disorders: perceptions of genetic etiology and recurrence risk among Taiwanese parents of affected children |
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| ‘It had to be done’: genetic testing decisions for arrhythmogenic right ventricular cardiomyopathy |
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| Autism spectrum disorders: a qualitative study of attitudes toward prenatal genetic testing and termination decisions of affected pregnancies |
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✓ |
✓ |
Asians |
| <i>SOX10</i> mutations mimic isolated hearing loss |
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| Next‐generation <scp>DNA</scp> sequencing of a Swedish malignant hyperthermia cohort |
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| Prevalence of <i><scp>BRCA1</scp></i> and <i><scp>BRCA2</scp></i> mutations in unselected breast cancer patients from Peru |
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|
✓ |
✓ |
Hispanic; Peruvian; Peruvian women; Peru; HISPANEL |
| p.<scp>L18P</scp>: a novel <scp>IDUA</scp> mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients |
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| Response to Cragun et al. |
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| The <i>RBMX</i> gene as a candidate for the Shashi X‐linked intellectual disability syndrome |
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| <scp>APC</scp> promoter <scp>1B</scp> deletion in seven American families with familial adenomatous polyposis |
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| A recurrent germline <i><scp>BAP1</scp></i> mutation and extension of the <i><scp>BAP1</scp></i> tumor predisposition spectrum to include basal cell carcinoma |
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| Detecting somatic mosaicism: considerations and clinical implications |
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| The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features |
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| Cornelia de Lange syndrome |
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| Frequencies and geographic distributions of genetic mutations in transthyretin‐ and non‐transthyretin‐related familial amyloidosis |
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| <i><scp>BRCA1</scp></i> and <i><scp>BRCA2</scp></i> mutations and the risk for colorectal cancer |
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| Genetic regulation of vertebrate eye development |
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| Mutations within the spliceosomal gene <i>SNRPB</i> affect its auto‐regulation and are causative for classic cerebro‐costo‐mandibular syndrome |
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| Autosomal recessive cystinuria caused by genome‐wide paternal uniparental isodisomy in a patient with Beckwith–Wiedemann syndrome |
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| Targeted next‐generation sequencing in the diagnosis of neurodevelopmental disorders |
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| <i><scp>FERMT1</scp></i> promoter mutations in patients with Kindler syndrome |
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| The first mutation in <i><scp>CNGA2</scp></i> in two brothers with anosmia |
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| Immunologic assessment and <scp>KMT2D</scp> mutation detection in Kabuki syndrome |
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| Novel treatment strategies for schizophrenia from improved understanding of genetic risk |
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| Translational genomics and head and neck cancer: toward precision medicine |
|
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| Bioinformatics evaluation of <i><scp>NPHS2</scp></i> deletion mutation associated with congenital nephrotic syndrome in a consanguineous Pakistani family |
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| Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing |
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| Beneficial metabolic phenotypes caused by loss‐of‐function <i><scp>APOC3</scp></i> mutations |
|
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| Cumulative effects of genetic markers and the detection of advanced colorectal neoplasias by population screening |
|
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| Prostate cancer in a man with a <i><scp>BRCA2</scp></i> mutation and a personal history of bilateral breast cancer |
|
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| Phenotypic spectrum associated with <i><scp>PTCHD1</scp></i> deletions and truncating mutations includes intellectual disability and autism spectrum disorder |
|
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|
| Routine assessment of psychosocial problems after cancer genetic counseling: results from a randomized controlled trial |
|
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| Role of the Nrf2 signaling system in health and disease |
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| Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1‐q44 duplication including the <i><scp>AKT3</scp></i> gene |
|
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|
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| Intellectual disability: novel mutations in <scp>DEAF1</scp> cause speech impairment and behavioral problems |
|
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|
|
| <scp>DYRK1B</scp> variant linked to autosomal dominant metabolic syndrome |
|
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| Molecular and computational analyses of genes involved in mannose 6‐phosphate independent trafficking |
|
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| Germline <i><scp>BAP1</scp></i> mutations predispose also to multiple basal cell carcinomas |
|
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|
|
| Autosomal dominant <i>IFIH1</i> gain‐of‐function mutations cause Aicardi–Goutières syndrome |
|
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|
|
| Phosphoserine phosphatase (<i><scp>PSPH</scp></i>) gene mutation in an intellectual disability family from Pakistan |
|
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|
|
| Challenges and opportunities in the investigation of unexplained intellectual disability using family‐based whole‐exome sequencing |
|
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| From the era of genome analysis to the era of genomic drug discovery: a pioneering example of rheumatoid arthritis |
|
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|
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| Autosomal recessive mutations in the <scp><i>COL2A1</i></scp> gene cause severe spondyloepiphyseal dysplasia |
|
|
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|
|
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|
|
| Detailed characterization of <scp>MLH1</scp> p.<scp>D41H</scp> and p.<scp>N710D</scp> variants coexisting in a Lynch syndrome family with conserved <scp>MLH1</scp> expression tumors |
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| Strategies for recruitment of relatives of <scp>BRCA</scp> mutation carriers to a genetic testing program in the Bahamas |
|
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| Predictive genetic testing for adult‐onset disorders in minors: a critical analysis of the arguments for and against the 2013 <scp>ACMG</scp> guidelines |
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| Living laboratory: whole‐genome sequencing as a learning healthcare enterprise |
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| Use of genetic technologies to compare medicines |
|
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| <scp>CHIPS</scp> for genetic testing to improve a regional clinical genetic service |
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| Platelets are not all gray in <scp>GFI1B</scp> disease |
|
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|
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| Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study |
|
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|
|
| Carrier screening of <i>RTEL1</i> mutations in the Ashkenazi Jewish population |
|
|
|
|
|
|
✓ |
✓ |
Ashkenazi Jewish; Ashkenazi Orthodox; Ashkenazi population |
| Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia |
|
|
|
|
|
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|
|
| Progressive microcephaly is caused by compound‐heterozygous mutations in <i><scp>QARS</scp></i> |
|
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|
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| Characterization of large deletions in the <i><scp>DHCR7</scp></i> gene |
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| Genetic epidemiology of tooth agenesis in Japan: a population‐ and family‐based study |
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| Diagnostic dilemmas in Fabry disease: a case series study on <scp>GLA</scp> mutations of unknown clinical significance |
|
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| Ataxia telangiectasia: more variation at clinical and cellular levels |
|
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|
|
| <scp>SNaPshot</scp> reveals high mutation and carrier frequencies of 15 common hearing loss mutants in a Chinese newborn cohort |
|
|
|
|
|
|
✓ |
✓ |
Chinese; Chinese population; Chinese newborns |
| Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer |
|
|
|
|
|
|
✓ |
✓ |
Finns; Finland; founder populations |
| A founder mutation in the <i><scp>TCIRG1</scp></i> gene causes osteopetrosis in the Ashkenazi Jewish population |
|
|
|
|
|
|
✓ |
✓ |
Ashkenazi Jewish (AJ) population |
| A review of mismatch repair gene transcripts: issues for interpretation of <scp>mRNA</scp> splicing assays |
|
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|
|
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|
|
| A mutation in the Z‐line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy |
|
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|
|
| Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy |
|
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|
|
| <i><scp>EIF2AK4</scp></i> genetic mutations cause a recessive form of rare and deadly lung disease, pulmonary veno‐occlusive disease |
|
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|
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|
|
| Phenylalanine hydroxylase deficiency in Mexico: genotype–phenotype correlations, <scp>BH<sub>4</sub></scp> responsiveness and evidence of a founder effect |
|
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|
|
| Changes in hematological parameters in α‐thalassemia individuals co‐inherited with erythroid Krüppel‐like factor mutations |
|
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|
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|
|
| Identification of novel mutations in the <i><scp>VPS33B</scp></i> gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome |
|
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|
|
| The role of targeted <i><scp>BRCA1</scp></i>/<i><scp>BRCA2</scp></i> mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry |
|
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|
|
|
|
Portuguese ancestry |
| Developmental Biology: Frontiers for Clinical Genetics |
|
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|
|
| Help or hindrance: young people's experiences of predictive testing for Huntington's disease |
|
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|
|
| <i><scp>COL1A1</scp></i> C‐propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia? |
|
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|
|
|
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|
|
| Mutation update and uncommon phenotypes in a French cohort of 96 patients with <i><scp>WFS1</scp></i>‐related disorders |
|
|
|
|
|
|
✓ |
✓ |
French cohort |
| <scp>R705H</scp> mutation of <i><scp>MYH9</scp></i> is associated with <i><scp>MYH9</scp></i>‐related disease and not only with non‐syndromic deafness <scp>DFNA17</scp> |
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| An assessment of Canadian systems for triaging referred out genetic testing |
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| Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases |
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|
| Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes |
|
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|
|
| Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations |
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|
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| Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history |
|
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|
| Interactive e‐counselling for genetics pre‐test decisions: where are we now? |
|
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|
| A cohort study of <i><scp>MFN2</scp></i> mutations and phenotypic spectrums in Charcot–Marie–Tooth disease <scp>2A</scp> patients |
|
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|
|
|
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|
|
| Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress |
|
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|
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|
|
| Methylmalonic aciduria <i>cblB</i> type: characterization of two novel mutations and mitochondrial dysfunction studies |
|
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|
|
| <i><scp>BRCA2</scp></i> gene: a candidate for clinical testing in familial colorectal cancer type X |
|
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|
|
| Monoallelic <i><scp>ABCC8</scp></i> mutations are a common cause of diazoxide‐unresponsive diffuse form of congenital hyperinsulinism |
|
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|
|
| Systematic review of the psychosocial aspects of living with Marfan syndrome |
|
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| Determination of the allelic frequency in Smith–Lemli–Opitz syndrome by analysis of massively parallel sequencing data sets |
|
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|
|
| Alpha‐thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation – c.<scp>109C</scp>>T (p.<scp>R37X</scp>) |
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| Cross‐border reprogenetic services |
|
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| Influence of individual differences in disease perception on consumer response to direct‐to‐consumer genomic testing |
|
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|
| Mutations in <i><scp>POT1</scp></i> predispose to familial cutaneous malignant melanoma |
|
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|
|
| Mutations in <i><scp>COG2</scp></i> encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation |
|
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|
|
| Preferences for results from genomic microarrays: comparing parents and health care providers |
|
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|
| Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and <i><scp>FKBP14</scp></i>‐related Ehlers–Danlos syndrome |
|
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|
|
| Evaluating a unique, specialist psychiatric genetic counseling clinic: uptake and impact |
|
|
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| Protein truncating variants of <i><scp>SLC30A8</scp></i> reduce type 2 diabetes mellitus risk in humans |
|
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|
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|
|
| Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families |
|
|
|
|
|
|
✓ |
✓ |
Afrikaans-speaking community of South Africa; South African families; Iranian persons; Japanese fami |
| Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10‐year experience |
|
|
|
|
|
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|
|
| A cross‐sectional multicenter study of osteogenesis imperfecta in North America – results from the linked clinical research centers |
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| The importance of genetic susceptibility in Dupuytren's disease |
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| Innovative personalized medicine in gastric cancer: time to move forward |
|
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|
| Intragenic <i><scp>CAMTA1</scp></i> deletions are associated with a spectrum of neurobehavioral phenotypes |
|
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|
| Pre‐test genetic counseling services for hereditary breast and ovarian cancer delivered by non‐genetics professionals in the state of Florida |
|
|
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|
|
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|
|
| Genetic and bioinformatics analysis of four novel <i><scp>GCK</scp></i> missense variants detected in Caucasian families with <scp>GCK‐MODY</scp> phenotype |
✓ |
|
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|
|
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|
|
| Hypertrophic pyloric stenosis in twins; genetic or environmental factors |
|
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|
|
| Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X‐linked ectodermal dysplasia |
|
|
|
|
|
|
✓ |
✓ |
Italian |
| The impact of multiplex genetic testing on disease risk perceptions |
|
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|
|
| Antisense‐mediated therapeutic pseudoexon skipping in <scp>TMEM165‐CDG</scp> |
|
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|
|
| Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase‐associated neurodegeneration |
|
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|
|
✓ |
✓ |
Mexican, Mexico |
| <i>De novo <scp>WNT5A</scp></i>‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype |
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| Genetic evaluation based on family history and Her2 status correctly identifies <i><scp>TP53</scp></i> mutations in very early onset breast cancer cases |
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| A homozygous <i><scp>SIX6</scp></i> mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation |
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| Clinical application of genetics to guide prevention and treatment of oral diseases |
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| Prevalence and penetrance of <i><scp>ZFPM2</scp></i> mutations and deletions causing congenital diaphragmatic hernia |
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| <i><scp>D</scp>e novo <scp>EEF1A2</scp></i> mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy |
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| Comprehensive genetic testing can save lives in hereditary hearing loss |
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| Hypotrichosis‐lymphedema‐telangiectasia‐renal defect associated with a truncating mutation in the <scp>SOX18</scp> gene |
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| Charcot–Marie–Tooth disease and pathways to molecular based therapies |
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| Novel gene mutations and clinical features in patients with pantothenate kinase‐associated neurodegeneration |
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| The emerging era of pharmacogenomics: current successes, future potential, and challenges |
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| Olfaction evaluation and correlation with brain atrophy in Bardet‐Biedl syndrome |
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| Views of primary care providers regarding the return of genome sequencing incidental findings |
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| Personalized ophthalmology |
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| The homozygous p.<scp>V37I</scp> variant of <i><scp>GJB2</scp></i> is associated with diverse hearing phenotypes |
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✓ |
✓ |
East Asians; Chinese Han |
| The kidney in Fabry's disease |
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| Informed consent for human genetic and genomic studies: a systematic review |
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| Personalized gene silencing therapeutics for Huntington disease |
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| Reevaluation of the <scp>CMT1A</scp> duplication frequency in Greek Charcot‐Marie‐Tooth type 1 patients |
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✓ |
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Greek |
| <i><scp>GFI1B</scp></i> mutation causes autosomal dominant gray platelet syndrome |
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| Personalized therapy for breast cancer |
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| Pharmacogenetics of beta2 adrenergic receptor agonists in asthma management |
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| Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism |
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| Analysis of current testing practices for biallelic <i><scp>MUTYH</scp></i> mutations in <i><scp>MUTYH</scp></i>‐associated polyposis |
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| Using a combination of whole‐exome sequencing and homozygosity mapping to identify a novel mutation of <scp>SCARB2</scp> |
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| Using pharmacogenetics in real time to guide therapy: the warfarin example |
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| Whole exome analysis identifies dominant <i><scp>COL4A1</scp></i> mutations in patients with complex ocular phenotypes involving microphthalmia |
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| A comprehensive search for mutations in the <i><scp>PKD1</scp></i> and <i><scp>PKD2</scp></i> in Japanese subjects with autosomal dominant polycystic kidney disease |
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✓ |
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European or American ADPKD |
| Genetic predictors of cardiovascular morbidity in Bardet–Biedl syndrome |
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| <i><scp>SLC26A2</scp></i> disease spectrum in Sweden – high frequency of recessive multiple epiphyseal dysplasia (<scp>rMED</scp>) |
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✓ |
Finnish founder mutation; Sweden |
| Genotype–phenotype correlation of contiguous gene deletions of <i><scp>SLC6A8</scp>, <scp>BCAP31</scp></i> and <scp><i>ABCD1</i></scp> |
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| Biobanks and personalized medicine |
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| Dawning of the epigenetic era in hereditary cancer |
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| Myhre syndrome |
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| Strabismus genetics across a spectrum of eye misalignment disorders |
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| The beginning of personalized medicine in sepsis: small steps to a bright future |
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| Genotype/phenotype analysis in Chinese laminin‐α2 deficient congenital muscular dystrophy patients |
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| A novel <i><scp>ACAD8</scp></i> mutation in asymptomatic patients with isobutyryl‐<scp>CoA</scp> dehydrogenase deficiency and a review of the <i><scp>ACAD8</scp></i> mutation spectrum |
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| A ‘cure’ for Down syndrome: what do parents want? |
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| Genotype phenotype correlations for hearing impairment: Approaches to management |
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| Novel <i><scp>KDM6A</scp></i> (<scp>UTX</scp>) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (<scp>KS2</scp>) |
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| Recurrent mutations of <scp>BRCA1</scp> and <scp>BRCA2</scp> in Poland: an update |
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✓ |
Polish women |
| Search for <i><scp>ReCQL4</scp></i> mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller‐Gerold syndromes |
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| <scp>MicroRNAs</scp> in personalized cancer therapy |
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| Panel‐based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory |
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| Hereditary haemochromatosis caused by homozygous <i><scp>HJV</scp></i> mutation evolved through paternal disomy |
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| Novel <i><scp>LAMB3</scp></i> mutations cause non‐syndromic amelogenesis imperfecta with variable expressivity |
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| A study of 133 Chinese children with mitochondrial respiratory chain complex I deficiency |
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| Mosaic <i><scp>KCNJ2</scp></i> mutation in Andersen–Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism |
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| The revised ghent nosology; reclassifying isolated ectopia lentis |
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| The communication of secondary variants: interviews with parents whose children have undergone array‐<scp>CGH</scp> testing |
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| Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the <i><scp>EP300</scp></i> gene |
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| Novel mutations in <i><scp>PCYT1A</scp></i> are responsible for spondylometaphyseal dysplasia with cone‐rod dystrophy |
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| Somatic mosaicism in a Cornelia de Lange syndrome patient with <i><scp>NIPBL</scp></i> mutation identified by different next generation sequencing approaches |
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| <scp>BRCA1</scp> and <scp>BRCA2</scp> – update and implications on the genetics of breast cancer: a clinical perspective |
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| Overview of Bardet–Biedl syndrome in Spain: identification of novel mutations in <i><scp>BBS1,</scp><scp>BBS10</scp></i> and <i><scp>BBS12</scp></i> genes |
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| Microduplications encompassing the Sonic hedgehog limb enhancer <scp>ZRS</scp> are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome |
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| Epigenetic mechanisms in the pathogenesis of Lynch syndrome |
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| Clinical and molecular findings of chronic granulomatous disease in Oman: family studies |
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| Psychological status in female carriers of premutation <scp>FMR1</scp> allele showing a complex relationship with the size of <scp>CGG</scp> expansion |
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| ‘When atlastin meets spastin’ |
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| Founder mutation for Huntington disease in Caucasus Jews |
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✓ |
✓ |
✓ |
The prevalence of HD is known for Europeans; Caucasus Jews (CJ), Azerbaijani, Ashkenazi Jewish, Israeli population |
| Mutation spectrum in <scp>BBS</scp> genes guided by homozygosity mapping in an Indian cohort |
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| Attitudinal concordance toward uptake and disclosure of genetic testing for cancer susceptibility in patient–family member dyads |
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| Mutation spectrum and prevalence of <i>BRCA</i>1 and <i>BRCA</i>2 genes in patients with familial and early‐onset breast/ovarian cancer from Tunisia |
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✓ |
✓ |
Tunisian population; Tunisian women; our population |
| <scp>SPG35</scp> contributes to the second common subtype of <scp>AR‐HSP</scp> in China: frequency analysis and functional characterization of <i><scp>FA2H</scp></i> gene mutations |
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✓ |
✓ |
Chinese |
| Active approach for breast cancer genetic counseling during radiotherapy: long‐term psychosocial and medical impact |
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| <scp>DFNB16</scp> is a frequent cause of congenital hearing impairment: implementation of <i><scp>STRC</scp></i> mutation analysis in routine diagnostics |
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| Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia |
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| Evidence‐based genetic counselling implications for Huntington disease intermediate allele predictive test results |
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