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| College News |
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| College News |
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| College News |
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| College News |
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| College News |
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| College News |
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| College News |
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| Familial testicular cancer: Interest in genetic testing among high-risk family members |
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| Recall of disclosed Apolipoprotein E genotype and lifetime risk estimate for Alzheimer's disease: The REVEAL Study |
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| Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males |
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| Thank You for the Opportunity |
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| Erratum |
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| Uptake of BRCA1 rearrangement panel testing: In individuals previously tested for BRCA1/2 mutations |
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| Creating partnerships and improving health care: The role of genetic advocacy groups |
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| Genetic services for men: The preferences of men with a family history of prostate cancer |
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| Evaluation of family history as a risk factor and screening tool for detecting undiagnosed diabetes in a nationally representative survey population |
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| National collaborative study groups: Structure, benefits gained and potential for rare genetic diseases |
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| A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness |
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| Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization |
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| Risk communication in completed series of breast cancer genetic counseling visits |
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| Reliable detection of Trisomy 21 using MALDI-TOF mass spectrometry |
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| Functional copper transport explains neurologic sparing in Occipital Horn syndrome |
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| A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes |
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| Erratum |
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| Impact of familial adenomatous polyposis on young adults: Attitudes toward genetic testing, support, and information needs |
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| Impact of hemochromatosis screening in patients with indeterminate results: The hemochromatosis and iron overload screening study |
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| Fifteen years of experience in predictive testing for Huntington disease at a single testing center in Victoria, Australia |
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| The medical genetics workforce: An analysis of clinical geneticist subgroups |
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| Quantity versus quality: Optimal methods for cell-free DNA isolation from plasma of pregnant women |
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| Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene |
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| Self-rated breast cancer risk among women reporting a first-degree family history of breast cancer on office screening questionnaires in routine medical care: The role of physician-delivered risk feed |
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| The role of hereditary nonpolyposis colorectal cancer in the management of familial ovarian cancer |
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| Fetal gender and maternal serum screening markers |
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| Molecular diagnosis of Beckwith-Wiedemann Syndrome using quantitative methylation-sensitive polymerase chain reaction |
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| Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy |
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| Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients |
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| Maternal understanding of infant diabetes risk: Differential effects of maternal anxiety and depression |
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| Cholesterol and saturated fat intake determine the effect of polymorphisms at ABCG5/ABCG8 genes on lipid levels in children |
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| Concordance of functional in vitro data and epidemiological associations in complex disease genetics |
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| Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens – Implications for newborn screening |
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| Population-based study of the prevalence of family history of cancer: Implications for cancer screening and prevention |
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| Low rates of acceptance of BRCA1 and BRCA2 test results among African American women at increased risk for hereditary breast-ovarian cancer |
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| Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders |
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| Exploring barriers to long-term follow-up in newborn screening programs |
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| Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement |
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| Erratum |
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| Developing and optimizing a decisional instrument using self-reported ancestry for carrier screening in a multi-ethnic society |
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self-reported ancestry; multi-ethnic society |
| Education in the genetics of hearing loss: A survey of early hearing detection and intervention programs |
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| A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) |
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| Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth |
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| Familial risk assessment for early-onset coronary heart disease |
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| Atrioventricular canal defect in Bardet-Biedl syndrome: Clinical evidence supporting the link between atrioventricular canal defect and polydactyly syndromes with ciliary dysfunction536 |
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| Expanding the definition of a positive family history for early-onset coronary heart disease |
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| Acute health events in adult patients with genetic disorders: The Marshfield Epidemiologic Study Area |
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| Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients |
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| Novel mutations underlying nephrogenic diabetes insipidus in Arab families |
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| A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome |
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| Impact of patient age on family cancer history |
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| Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum |
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| Predictive testing for complex diseases using multiple genes: Fact or fiction? |
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| Familial small supernumerary marker chromosomes are predominantly inherited via the maternal line |
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| Reply to Dr. Strom regarding “A call for mutations” |
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| What is the clinical utility of genetic testing? |
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| A feasibility study for the newborn screening of spinal muscular atrophy |
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| Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring |
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| The path from genome-based research to population health: Development of an international public health genomics network |
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| Genetic testing for susceptibility to breast and ovarian cancer: Evaluating the impact of a direct-to-consumer marketing campaign on physicians' knowledge and practices |
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| CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype |
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| Consent for genetic research in a general population: An update on the National Health and Nutrition Examination Survey experience |
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| Genetic evaluation of suspected osteogenesis imperfecta (OI) |
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| Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease |
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| New Products |
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| Knowledge and attitudes concerning medical genetics amongst physicians and medical students in Cameroon (sub-Saharan Africa) |
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| Erratum |
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| Letter to the Editor |
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| Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease |
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| Integration of internet-based genetic databases into the medical school pre-clinical and clinical curriculum |
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| Main Report |
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| Executive Summary |
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| Electrocardiographic response to enzyme replacement therapy for Pompe disease |
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| Diagnostic challenges for Pompe disease: An under-recognized cause of floppy baby syndrome |
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| Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid α-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease |
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| Pompe disease diagnosis and management guideline |
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| Physical therapy management of Pompe disease |
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| The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease |
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| Ambulatory electrocardiogram analysis in infants treated with recombinant human acid α-glucosidase enzyme replacement therapy for Pompe disease |
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| Haploinsufficiency due to deletion within the 3′-UTR of C1-INH-gene associated with hereditary angioedema |
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| Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: Lessons for carrier diagnosis |
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| Probability in gene expression |
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| The versatile RECQL4 |
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| Evaluation of a decision aid for families considering p53 genetic counseling and testing |
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| OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy |
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| Cystic Fibrosis testing among Arab-Americans |
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| Prevention of mental retardation: What do health professionals and general population know about this issue? |
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| How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autos |
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| C-reactive protein levels in subjects with Prader-Willi syndrome and obesity |
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| The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update |
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| College News |
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| New Products |
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| The long QT syndrome family of cardiac ion channelopathies: A HuGE review |
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| Quantifying the health benefits of genetic tests: The importance of a population perspective |
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| Quantifying the health benefits of genetic tests: A clinical perspective |
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| Family-based association analysis validates chromosome 3p21 as a putative nasopharyngeal carcinoma susceptibility locus |
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| Analyzing DNA from buccal cells is a reliable method for the exclusion of cystic fibrosis. Results of a pilot study |
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| Prevention of a molecular misdiagnosis in galactosemia |
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| Screen-positive rates and agreement among six family history screening protocols for breast/ovarian cancer in a population-based cohort of 21- to 55-year-old women |
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| Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia |
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| Tuberous sclerosis complex and polycystic kidney disease together: An exception to the contiguous gene syndrome |
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| Breast cancer in China: Demand for genetic counseling and genetic testing |
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| IL-10 polymorphisms are associated with early-onset celiac disease and severe mucosal damage in patients of Caucasian origin |
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| The facilitating role of information provided in genetic counseling for counselees' decisions |
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| Attitudes toward prenatal screening and testing for Fragile X |
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| Identification of an 11T allele in the polypyrimidine tract of intron 8 of the CFTR gene |
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| A large deletion in the CFTR gene in CBAVD |
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| A “neglected part of the curriculum” or “of limited use”? Views on genetics training by nongenetics medical trainees and implications for delivery |
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| Charcot-Marie-Tooth disease and related hereditary polyneuropathies: Molecular diagnostics determine aspects of medical management |
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| NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: A HuGE review |
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| Family history of type 2 diabetes: A population-based screening tool for prevention? |
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| Quantitative dysmorphology assessment in Fabry disease |
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| Cytogenetic analysis in various tissues of pregnancy loss |
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| Preconception and prenatal testing of biologic fathers for carrier status |
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| SNP selection at the NAT2 locus for an accurate prediction of the acetylation phenotype |
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| College News |
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| Toward cultural competence in cancer genetic counseling and genetics education: Lessons learned from Chinese-Australians |
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| What is in a cause? Exploring the relationship between genetic cause and felt stigma |
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| Preclinical validation of fluorescence in situ hybridization assays for clinical practice |
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| Deletion of chromosome 21 disturbs human brain morphogenesis |
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| Genetic investigation of the TSPYL1 gene in sudden infant death syndrome |
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| Familial risks of aortic aneurysms among siblings in a nationwide Swedish study |
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| Characterization of neuronopathic Gaucher disease among ethnic Poles |
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| Robinow syndrome with variable neurologic features |
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| The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders |
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| Sex-influenced autosomal dominant optic atrophy is caused by mutations of IVS9 +2A>G in the OPA1 gene |
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