| In This Issue |
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| News Briefs |
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| In This Issue |
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| In This Issue |
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| News Briefs |
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| In this issue |
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| In This Issue |
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| In this issue |
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| News |
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| In this issue |
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| News |
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| Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) |
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| Venous thromboembolism laboratory testing (factor V Leiden andfactor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG) |
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| Insuring patient access and affordability for treatments for rare and ultrarare diseases: a policy statement of the American College of Medical Genetics and Genomics |
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| Medical genetics in developing countries in the Asia-Pacific region: challenges and opportunities |
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| Discovery of new susceptibility genes: proceed cautiously |
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| Correction: Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders |
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| The power of heredity and the relevance of eugenic history |
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| Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development |
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| Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients |
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| Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families |
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| Navigating the nuances of clinical sequence variant interpretation in Mendelian disease |
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| Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss |
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| Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medica |
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| Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) |
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| Genome-first findings require precision phenotyping |
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| In This Issue |
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| News Briefs |
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| Gain-of-function mutations in DNMT3A in patients with paraganglioma |
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| Attention: Direct-To-Consumer patrons: Proceed with caution |
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| Correction: In This Issue |
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| Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing |
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| Phenotypic expansion illuminates multilocus pathogenic variation |
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| Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) |
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| Arno G. Motulsky, MD (1923–2018): Holocaust survivor who cofounded the field of medical genetics |
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| In This Issue |
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| News Briefs |
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| Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly |
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| Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation |
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| Measuring coverage and accuracy of whole-exome sequencing in clinical context |
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| Genomic sequencing identifies secondary findings in a cohort of parent study participants |
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| Point-of-care whole-exome sequencing of idiopathic male infertility |
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| Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities |
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| In This Issue |
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| Correction: Corrigendum: Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis |
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| News Briefs |
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| Expanding the phenome and variome of skeletal dysplasia |
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| In This Issue |
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| AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss |
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| FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts |
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| “Possibly positive or certainly uncertain?”: participants’ responses to uncertain diagnostic results from exome sequencing |
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| Familial communication and cascade testing among relatives of BRCA population screening participants |
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| Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders |
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| News Briefs |
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| Genotype and phenotype correlation in von Hippel–Lindau disease based on alteration of the HIF-α binding site in VHL protein |
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| Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management |
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| Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis |
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| Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial |
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| Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing |
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| False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care |
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| Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective stu |
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| Is prenatal genomic testing ready for prime time? |
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| Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study |
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| Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays |
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| Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider—a statement of the American College of Me |
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| Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG) |
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| Meeting the challenges of implementing rapid genomic testing in acute pediatric care |
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| Response to Biesecker and Harrison |
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| Congenital heart disease and aortic arch variants associated with mutation in PHOX2B |
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| Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta |
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| The ACMG/AMP reputable source criteria for the interpretation of sequence variants |
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| Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever |
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| A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb–polysyndactyly syndrome |
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| Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy |
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| “Well, good luck with that”: reactions to learning of increased genetic risk for Alzheimer disease |
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| Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome |
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| Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease |
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| Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison |
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| Response to Peron et al. |
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| Response to Walker |
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| Tell me once, tell me soon: parents’ preferences for clinical genetics services for congenital heart disease |
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| Anticipating uncertainty and irrevocable decisions: provider perspectives on implementing whole-genome sequencing in critically ill children with heart disease |
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| Do RET somatic mutations play a role in Hirschsprung disease? |
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| Hereditary cancer gene panel test reports: wide heterogeneity suggests need for standardization |
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| ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation |
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| Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results |
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| Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: a prospective interventional study |
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| Response to Brosens et al |
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| A counseling framework for moderate-penetrance colorectal cancer susceptibility genes |
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| In This Issue |
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| News Briefs |
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| Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants |
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| CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype |
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| Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature |
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| Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data |
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| SCYL1 variants cause a syndrome with lowγ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) |
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| A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers |
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| Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project |
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| Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests |
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| Making pretest genomic counseling optional: lessons from the RAVE study |
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| Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases |
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| Interpretation of genomic sequencing: variants should be considered uncertain until proven guilty |
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| Correction: Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1 |
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| A literature review at genome scale: improving clinical variant assessment |
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| Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data |
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| Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings |
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| Reconsidering the duty to warn genetically at-risk relatives |
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| Considerations in healthcare reform for patients and families with genetic diseases: a statement of the American College of Medical Genetics and Genomics |
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| CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation |
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| The contribution of family history to the burden of diagnosed diabetes, undiagnosed diabetes, and prediabetes in the United States: analysis of the National Health and Nutrition Examination Survey, 20 |
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| MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer |
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| News Briefs |
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| Erratum: In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics |
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| In This Issue |
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| Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders |
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| Response to Wald et al |
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| Arterial tortuosity syndrome: 40 new families and literature review |
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| Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider—a statement of th |
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| Cost-effectiveness and comparative effectiveness of cancer risk management strategies in BRCA1/2 mutation carriers: a systematic review |
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| Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data |
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| The differential diagnosis of a TP53 genetic testing result |
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| Representing a “revolution”: how the popular press has portrayed personalized medicine |
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| Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care |
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| Patient understanding of, satisfaction with, and perceived utility of whole-genome sequencing: findings from the MedSeq Project |
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| A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans |
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| Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS) |
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| Conflicts of interest in genetic counseling: addressing and delivering |
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| Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations |
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| Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations |
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| Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel |
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| The role of SMAD3 in the genetic predisposition to papillary thyroid carcinoma |
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| Proposed outcomes measures for state public health genomic programs |
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| Conflicts of interest in genetic counseling: persistent underlying questions |
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| Development and evaluation of a genomics training program for community health workers in Texas |
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| Correction: Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation |
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| Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework |
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| The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study |
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| Cost-effectiveness analysis of germ-line BRCA testing in women with breast cancer and cascade testing in family members of mutation carriers |
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| Genetic analysis of CHARGE syndrome identifies overlapping molecular biology |
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| Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT |
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| CGG repeat length and AGG interruptions as indicators of fragile X–associated diminished ovarian reserve |
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| Metaphors matter: from biobank to a library of medical information |
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| Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience |
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| A systematic analysis of online marketing materials used by providers of expanded carrier screening |
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| From public health genomics to precision public health: a 20-year journey |
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| Erratum: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics |
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| Response to Metcalfe et al. |
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| Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines |
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| Happy birthday, Genetics in Medicine! |
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| Fragile X population carrier screening |
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| Mosaic disorders and the Taxonomy of Human Disease |
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| Prevalence of neurofibromatosis type 1 in the Finnish population |
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| Correction: Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar |
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| Phenocopies in melanoma-prone families with germ-line CDKN2A mutations |
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| Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results |
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| Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel |
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| Age and perceived risks and benefits of preventive genomic screening |
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| Observed frequency and challenges of variant reclassification in a hereditary cancer clinic |
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| A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations |
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| Coronary calcification in adults with Turner syndrome |
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| Somatic TP53 variants frequently confound germ-line testing results |
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| Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study |
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| Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD |
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| Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants |
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| Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers |
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| De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy |
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| Prenatal reflex DNA screening for trisomies 21, 18, and 13 |
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| Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1 |
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| Informative priors on fetal fraction increase power of the noninvasive prenatal screen |
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| Precision newborn screening for lysosomal disorders |
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| Peter Bauer, Ellen Karges, Gabriela Oprea and Arndt Rolfs |
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| Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease |
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| Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experi |
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| Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis |
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| Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the futu |
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| School liaison program supporting children with neurofibromatosis type 1: a model of care for children with chronic disease |
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| Correction: Corrigendum: What are people willing to pay for whole-genome sequencing information, and who decides what they receive? |
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| Unmet needs in human genomic variant interpretation |
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| Revisiting mitochondrial diagnostic criteria in the new era of genomics |
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| Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests |
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| Novel copy-number variations in pharmacogenes contribute to interindividual differences in drug pharmacokinetics |
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| Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development |
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| Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG) |
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| Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis |
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| The who, what, and why of research participants’ intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study |
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| RET somatic mutations are underrecognized in Hirschsprung disease |
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| Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants |
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| Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency |
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| Beware the laboratory report: discrepancy in variant classification on reproductive carrier screening |
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| Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis |
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| “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Pr |
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| Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling |
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| Low frequency of Fabry disease in patients with common heart disease |
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| Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia |
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| Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening? |
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| A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features |
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| Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients |
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| Pathways from autism spectrum disorder diagnosis to genetic testing |
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| Pilot study of population-based newborn screening for spinal muscular atrophy in New York state |
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| A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers |
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| A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73 |
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| Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature |
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| Noncoding copy-number variations are associated with congenital limb malformation |
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| Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial |
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| Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data |
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| Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review |
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| A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number |
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| Trends in utilization and costs of BRCA testing among women aged 18–64 years in the United States, 2003–2014 |
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| Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network’s Common Measures Working Group |
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| Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases |
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| Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases |
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| Impact of HIPAA’s minimum necessary standard on genomic data sharing |
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| Clinical and genetic analysis of a rare syndrome associated with neoteny |
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| Navigating the research–clinical interface in genomic medicine: analysis from the CSER Consortium |
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| Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility |
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| High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders |
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| Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia |
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| Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay |
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| Inferred inheritance of MorbidMap genes without OMIM clinical synopsis |
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| Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively |
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| Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing |
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| Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction |
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| A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system |
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| B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation |
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| Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes |
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| De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy |
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| Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test |
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| Precision medicine, health disparities, and ethics: the case for disability inclusion |
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| Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome |
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| Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment |
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| Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity |
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| Reactions to clinical reinterpretation of a gene variant by participants in a sequencing study |
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| SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy |
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| Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk |
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| Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations |
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| The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects |
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| Molecular autopsy in maternal–fetal medicine |
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| A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib |
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| When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations |
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| A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone |
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| Genomic diagnostics within a medically underserved population: efficacy and implications |
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| Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function |
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| Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism |
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| PREPL deficiency: delineation of the phenotype and development of a functional blood assay |
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| Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history |
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| Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR) |
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| Survival trends from the Prader–Willi Syndrome Association (USA) 40-year mortality survey |
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| CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance |
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| Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature |
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| FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants |
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| GWAS signals revisited using human knockouts |
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| In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics |
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| Long-read genome sequencing identifies causal structural variation in a Mendelian disease |
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| Broad consent for health care–embedded biobanking: understanding and reasons to donate in a large patient sample |
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| Systematic design and comparison of expanded carrier screening panels |
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| Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup |
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| A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history |
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