| In This Issue |
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| News |
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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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| In This Issue |
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| We must now put in place an updated, comprehensive newborn screening program for deaf and hard-of-hearing infants |
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| News |
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| In This Issue |
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| Correction: Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism |
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| Correction: Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes |
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| Oncogenic effects of germline variants in lysosomal storage disease genes |
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| Addendum: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment |
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| Correction: The value of diagnostic testing for parents of children with rare genetic diseases |
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| Response to Veenstra et al. |
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| Cost-effectiveness of population genomic screening |
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| Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis |
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| In This Issue |
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| News |
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| Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect |
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| Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring |
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| DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract |
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| The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene |
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| Chronic kidney disease in propionic acidemia |
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| ACMG response to Nussbaum et al. letter on ACMG policy statement: the use of secondary findings recommendations for general population screening: a policy statement of the ACMG |
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| The value of diagnostic testing for parents of children with rare genetic diseases |
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| CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum |
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| Response to “The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)” |
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| Correction: Delivering genomic medicine in the UK National Health Service: a systematic review and narrative synthesis |
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| Genomic databases, subpoenas, and Certificates of Confidentiality |
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| A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy |
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| ADDENDUM: Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors |
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| Correction: Inaccuracies and shortcomings in “Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations” |
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| Genetic data partnerships: academic publications with privately owned or generated genetic data |
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| An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome |
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| Correction: A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children |
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| Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening |
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| Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies |
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| Correction: SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis |
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| Responsibility, culpability, and parental views on genomic testing for seriously ill children |
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| Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis |
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| Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders |
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| Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon |
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| A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children |
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| PEDIA: prioritization of exome data by image analysis |
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| Inaccuracies and shortcomings in “Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations” |
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| Response to Johansen Taber et al. |
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| Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect |
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| Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission |
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| News |
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| Reporting of race in genome and exome sequencing studies of cancer: a scoping review of the literature |
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| Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel |
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| In This Issue |
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| Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines |
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| Developmental outcomes of children with Duarte galactosemia: exploring the bases of an apparent contradiction in the literature |
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| Androgenetic chimerism as an etiology for Beckwith–Wiedemann syndrome: diagnosis and management |
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| Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk |
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| Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation |
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| SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis |
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| Correction: ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs |
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| Phenotypic distinctions between mosaic forms of tuberous sclerosis complex |
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| Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies |
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| Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases |
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| Significant contribution of intragenic deletions to ARID1B mutation spectrum |
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| Response to Gorokhova et al. |
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| Genotype–phenotype associations among panel-based TP53+ subjects |
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| Genomic education for the next generation of health-care providers |
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| Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes |
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| The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis |
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| Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease |
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| Correction: Sequencing as a first-line methodology for cystic fibrosis carrier screening |
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| Including the blind community in precision medicine research: findings from a national survey and recommendations |
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| Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy |
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| International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias |
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| Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy |
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| In This Issue |
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| News |
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| Correction: Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics(ACMG) |
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| Correction: Variant classification changes over time in BRCA1 and BRCA2 |
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| Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study |
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| Response to Yang et al. |
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| How should we correctly interpret biallelic germline truncating variant of MLH3 in hereditary colorectal cancer? |
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| Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants |
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| Sequencing as a first-line methodology for cystic fibrosis carrier screening |
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| Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia |
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| ADDENDUM: Section E9 of the American College of Medical Genetics Technical Standards and Guidelines: Fluorescence in situ hybridization |
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| Expert and lay perspectives on burden, risk, tolerability, and acceptability of clinical interventions for genetic disorders |
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| Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease |
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| Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes |
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| Comorbidity landscape of the Danish patient population affected by chromosome abnormalities |
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| The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG) |
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| Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG) |
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| Pancreatic cancer and melanoma related perceptions and behaviors following disclosure of CDKN2A variant status as a research result |
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| Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy |
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| Research participants’ preferences for receiving genetic risk information: a discrete choice experiment |
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| Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis |
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| Letter: Relearning the 3 R’s? Reinterpretation, recontact, and return of genetic variants |
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| Response to Knoppers et al. |
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| Commentary: Expanded carrier screening: how much is too much? |
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| Variant classification changes over time in BRCA1 and BRCA2 |
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| CRISPR in the North American popular press |
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| PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics |
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| Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests |
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| ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder |
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| All-cause mortality and survival in adults with 22q11.2 deletion syndrome |
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| Successful recruitment and retention of diverse participants in a genomics clinical trial: a good invitation to a great party |
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| A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency |
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| Correction: Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China |
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| Correction: Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis |
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| Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations |
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| Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome) |
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| News |
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| In This Issue |
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| Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study |
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| Challenges and lessons learned from clinical pharmacogenetic implementation of multiple gene–drug pairs across ambulatory care settings |
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| A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants |
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| What do we do now?: Responding to claims of germline gene editing in humans |
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| De novo and biallelic DEAF1 variants cause a phenotypic spectrum |
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| Mobility in osteogenesis imperfecta: a multicenter North American study |
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| The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome |
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| From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care |
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| Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases |
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| Disability inclusion in precision medicine research: a first national survey |
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| Rethinking the “open future” argument against predictive genetic testing of children |
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| Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China |
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| Correction: Toward automation of germline variant curation in clinical cancer genetics |
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| ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs |
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| A retrospective review of multiple findings in diagnostic exome sequencing: halF.A.re distinct and halF.A.re overlapping diagnoses |
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| Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing |
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| Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel |
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| Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China |
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| Correction: Analysis of fetal DNA in maternal plasma with markers designed for forensic DNA mixture resolution |
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| Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools |
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| Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels |
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| Current conditions in medical genetics practice |
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| Strategies for Improving Access to Hereditary Cancer Testing: Recommendations from Stakeholders |
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| Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly |
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| The transformation of medical genetics by clinical genomics: hubris meets humility |
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| Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility |
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| In This Issue |
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| News |
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| Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes |
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| Response to Wang et al. |
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| Response to Roberts et al. 2018: cohort ascertainment and methods of analysis impact the association between cancer and genetic predisposition - the tale of breast cancer risk and Lynch syndrome genes |
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| A data-driven evaluation of the size and content of expanded carrier screening panels |
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| Correction: Experiences and perspectives on the return of secondary findings among genetic epidemiologists |
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| Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort |
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| Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature |
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| Toward automation of germline variant curation in clinical cancer genetics |
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| Correction: BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors |
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| Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis |
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| Correction: Estimating the burden and economic impact of pediatric genetic disease |
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| Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? |
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| Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen |
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| Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature |
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| Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD) |
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| SERPINA1 Z allele is associated with cystic fibrosis liver disease |
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| Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome |
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| Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicen |
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| Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis |
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| CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat |
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| In This Issue |
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| Impact of NUDT15 genetics on severe thiopurine-related hematotoxicity in patients with European ancestry |
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✓ |
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European ancestry |
| News |
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| A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings |
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| Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders |
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| Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome |
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| Response to Juang et al. |
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| Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis |
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| Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study |
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| CYP2D6-guided opioid therapy improves pain control in CYP2D6 intermediate and poor metabolizers: a pragmatic clinical trial |
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| A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement |
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| Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders |
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| ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants |
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| Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies |
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| Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) |
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| Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients |
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| Constructing identities: the implications of DTC ancestry testing for tribal communities |
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| Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia |
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| Insights into genetics, human biology and disease gleaned from family based genomic studies |
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| Revising the Psychiatric Phenotype of Homocystinuria |
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| Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides |
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| Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay |
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| Response to Gammal et al. |
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| TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model |
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| The illusion of polygenic disease risk prediction |
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| Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus |
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| BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors |
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| In This Issue |
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| News |
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| Considerations for pharmacogenomic testing in a health system |
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| Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women |
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| Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia |
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| Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease |
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| 45,X mosaicism in a population-based biobank: implications for Turner syndrome |
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| Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition |
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| Marfan syndrome: improved clinical history results in expanded natural history |
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| Response to Prakash et al. |
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| Cancer communication research in the era of genomics and precision medicine: a scoping review |
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| A CRISPR focus on attitudes and beliefs toward somatic genome editing from stakeholders within the sickle cell disease community |
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| Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG) |
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| Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum |
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| Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders |
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| Estimating the burden and economic impact of pediatric genetic disease |
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| Ethnic identity and engagement with genome sequencing research |
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| Characteristics and evaluation outcomes of genomics curricula for health professional students: a systematic literature review |
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| 2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases |
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| Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing |
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| Response to Evans et al. |
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| Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria |
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| Protecting trust in medical genetics in the new era of forensics |
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| 27 years of prenatal diagnosis for Huntington disease in the United Kingdom |
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| Are women with pathogenic variants in PMS2 and MSH6 really at high lifetime risk of breast cancer? |
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| Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease |
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| Atypical cerebral palsy: genomics analysis enables precision medicine |
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| A somatic activating NRAS variant associated with kaposiform lymphangiomatosis |
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| Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing |
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| Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework |
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| Pathogenic TERT promoter variants in telomere diseases |
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| Lessons learned from the DFNA37 gene discovery odyssey |
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| ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis |
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| On CALFAN syndrome: report of a patient with a novel variant in SCYL1 gene and recurrent respiratory failure |
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| Secondary research uses of residual newborn screening dried bloodspots: a scoping review |
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| Response to Spagnoli et al. |
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| Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield |
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| Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels |
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| Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes |
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| A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome |
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| Lessons learned from two decades of BRCA1 and BRCA2 genetic testing: the evolution of data sharing and variant classification |
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| Frequency of de novo variants and parental mosaicism in vascular Ehlers–Danlos syndrome |
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| Personalized medicine: paradigm shift or revolution |
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| RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy |
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| Experiences and perspectives on the return of secondary findings among genetic epidemiologists |
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| Qualitative study of system-level factors related to genomic implementation |
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| Type IV galactosemia |
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| Correction: Putting genome-wide sequencing in neonates into perspective |
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| Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy |
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| Trajectory of exonic variant discovery in a large clinical population: implications for variant curation |
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| Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease |
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| Genetics in Medicine at Twenty |
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| Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin |
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| Nonimmune hydrops fetalis: identifying the underlying genetic etiology |
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| Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort |
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| Foundation of the Newborn Screening Translational Research Network and its tools for research |
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| eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data |
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| Knowledge, motivations, expectations, and traits of an African, African-American, and Afro-Caribbean sequencing cohort and comparisons to the original ClinSeq® cohort |
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| Disparities in genetic services utilization in a random sample of young breast cancer survivors |
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| Increasing evidence of combinatory variant effects calls for revised classification of low-penetrance alleles |
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| Stakeholders’ views on the value of outcomes from clinical genetic and genomic interventions |
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| Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested |
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| Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease |
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| Population data improves variant interpretation in autosomal dominant polycystic kidney disease |
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| Giving adolescents a voice: the types of genetic information adolescents choose to learn and why |
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| Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance |
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| A logic model for precision medicine implementation informed by stakeholder views and implementation science |
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| The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature |
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| The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome |
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| A framework to build capacity for a reflex-testing program for Lynch syndrome |
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| Biallelic GALM pathogenic variants cause a novel type of galactosemia |
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| Carrier screening “within the panel” |
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| Response to Suthers and Mina |
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| Psychological adaptation to molecular autopsy findings following sudden cardiac death in the young |
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| Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington |
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| Comparing ethnicity-based and expanded carrier screening methods at a single fertility center reveals significant differences in carrier rates and carrier couple rates |
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| Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions |
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| Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants |
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| Clinical utility of expanded carrier screening: results-guided actionability and outcomes |
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| Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations |
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| Pitfalls of clinical exome and gene panel testing: alternative transcripts |
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| Variant data sharing by clinical laboratories through public databases: consent, privacy and further contact for research policies |
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| Response to Hannah-Shmouni and Stratakis |
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| Growth hormone excess in neurofibromatosis 1 |
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| Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease |
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| Standard operating procedure for somatic variant refinement of sequencing data with paired tumor and normal samples |
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| Putting genome-wide sequencing in neonates into perspective |
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| Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease |
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| Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis |
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| Response to Esplin et al. |
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| Identification of clinically actionable variants from genome sequencing of families with congenital heart disease |
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| De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome |
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| Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study |
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| Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies |
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| Long-term follow-up in PMM2-CDG: are we ready to start treatment trials? |
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| Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation |
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| Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients |
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| Functional analysis of DES-p.L398P and RBM20-p.R636C |
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| Response to Brodehl et al. |
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| Correction: The landscape of epilepsy-related GATOR1 variants |
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| Lessons from the premature adoption of preimplantation embryo testing |
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| Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen |
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| Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia |
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| Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum |
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| Sharing data for future research'engaging participants' views about data governance beyond the original project: a DIRECT Study |
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| Opening the ̏black box̋ of informed consent appointments for genome sequencing: a multisite observational study |
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| The global prevalence of Wilson disease from next-generation sequencing data |
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| TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants |
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| Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine |
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| Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37 |
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| Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants |
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| Autozygome and high throughput confirmation of disease genes candidacy |
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| The evolving landscape of expanded carrier screening: challenges and opportunities |
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| Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility |
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| A new clinical screening strategy and prevalence estimation for glucokinase variant-induced diabetes in an adult Chinese population |
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✓ |
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Chinese population |
| A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay |
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| KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants |
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| Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases |
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| Factors influencing NCGENES research participants- requests for non-medically actionable secondary findings |
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| Correction: The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared wit |
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| Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot |
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| Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations |
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| ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure |
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| CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies |
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| Genomic and phenotypic delineation of congenital microcephaly |
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| An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease |
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| Developing a genetic services assessment tool to inform quality improvement efforts in state genetic service delivery |
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| Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization |
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| Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis |
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| Use of a novel computerized decision aid for aneuploidy screening: a randomized controlled trial |
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| Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia |
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| Frequency and signature of somatic variants in 1461 human brain exomes |
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| Increasing genomic literacy among adolescents |
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| IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients |
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| The physician–patient relationship in the age of precision medicine |
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| Correction: Arterial tortuosity syndrome: 40 new families and literature review |
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| Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants |
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| Low-level parental mosaicism affects the recurrence risk of holoprosencephaly |
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| HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders |
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| Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis |
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| Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation |
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| Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future |
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| Mosaic Turner syndrome shows reduced penetrance in an adult population study |
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| Correction to: Accelerating evidence gathering and approval of precision medicine therapies: the FDA takes aim at rare mutations |
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| Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project |
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| De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy |
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| Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies |
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| Correction: A homozygous FANCM frameshift pathogenic variant causes male infertility |
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| Correction: Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness |
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| Correction: Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network |
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| Correction to: The landscape of epilepsy-related GATOR1 variants |
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| Noncardiac genetic predisposition in sudden infant death syndrome |
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| Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages |
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| Correction: DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes |
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| Correction: “Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals” |
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| Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population |
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| The landscape of epilepsy-related GATOR1 variants |
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| Paradigm shifts in newborn screening? |
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| Including ELSI research questions in newborn screening pilot studies |
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| Genomic sequencing in acutely ill infants: what will it take to demonstrate clinical value? |
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| The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants |
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| Analysis of fetal DNA in maternal plasma with markers designed for forensic DNA mixture resolution |
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| Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration |
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| DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes |
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| Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses |
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| Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma |
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| Correction: Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions |
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| Response to Biesecker |
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| The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages |
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| The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 |
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| Response to Mendelsohn and Sabbadini |
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| Clinical genome sequencing in an unbiased pediatric cohort |
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| Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization |
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| Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies |
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| Direct-to-consumer raw genetic data and third-party interpretation services: more burden than bargain? |
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| Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria |
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| Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network |
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| microRNAs as biomarkers in Pompe disease |
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| The functional impact of variants of uncertain significance in BRCA2 |
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| Private payer coverage policies for exome sequencing (ES) in pediatric patients: trends over time and analysis of evidence cited |
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| Health behaviors among unaffected participants following receipt of variants of uncertain significance in cardiomyopathy-associated genes |
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| Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background |
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| Accelerating evidence gathering and approval of precision medicine therapies: the FDA takes aim at rare mutations |
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| Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study |
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| Normative and conceptual ELSI research: what it is, and why it’s important |
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| Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants |
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| Response to Nakaguma et al. |
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| Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome” |
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| Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy |
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| Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer |
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| Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders |
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| Advocating for the consumer: clinical confirmation of all direct-to-consumer raw data alterations remains critical |
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| Addressing the accuracy of direct-to-consumer genetic testing |
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| Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts |
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| MOVR—NeuroMuscular ObserVational Research, a unified data hub for neuromuscular diseases |
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| Gene modification therapies: views of parents of people with Down syndrome |
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| Clinical and genetic spectrum of a large cohort of children with epilepsy in China |
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| TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia |
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| Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education |
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| MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants |
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| Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency |
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| Big data phenotyping in rare diseases: some ethical issues |
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| A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus |
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| Evaluating the role of public health in implementation of genomics-related recommendations: a case study of hereditary cancers using the CDC Science Impact Framework |
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| Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions |
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| A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative |
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| Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals |
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| A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality |
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| Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes |
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| Development of a consent resource for genomic data sharing in the clinical setting |
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| First, do no harm: direct-to-consumer genetic testing |
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| From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia |
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| When genomic medicine reveals misattributed genetic relationships—the debate about disclosure revisited |
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| Physicians’ perspectives on receiving unsolicited genomic results |
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| A homozygous FANCM frameshift pathogenic variant causes male infertility |
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| Understanding the potential of state-based public health genomics programs to mitigate disparities in access to clinical genetic services |
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| Prevalence and properties of intragenic copy-number variation in Mendelian disease genes |
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| Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application? |
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| Evaluation of polygenic risk models using multiple performance measures: a critical assessment of discordant results |
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| Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies |
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| Novel phenotype–disease matching tool for rare genetic diseases |
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| ZP2 pathogenic variants cause in vitro fertilization failure and female infertility |
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| Introducing medical genetics services in Ethiopia using the MiGene Family History App |
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| De novo truncating variants in WHSC1 recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype |
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| A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy |
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| “I don’t want to be Henrietta Lacks”: diverse patient perspectives on donating biospecimens for precision medicine research |
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| Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models |
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| A proposed nosology of inborn errors of metabolism |
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| Implementation, adoption, and utility of family health history risk assessment in diverse care settings: evaluating implementation processes and impact with an implementation framework |
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| Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients |
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| A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease—an ultra-orphan multisystemic lysosomal storage disorder |
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| Returning negative results to individuals in a genomic screening program: lessons learned |
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| The impact of variant classification on the clinical management of hereditary cancer syndromes |
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| Secondary findings from next-generation sequencing: what does actionable in childhood really mean? |
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| Aminoacyl-tRNA synthetase deficiencies in search of common themes |
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| Macrocytic anemia in Lesch–Nyhan disease and its variants |
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| Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model |
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| Written pretest information and germline BRCA1/2 pathogenic variant testing in unselected breast cancer patients: predictors of testing uptake |
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| Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center |
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| Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine? |
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| Pharmacogenetic testing in the Veterans Health Administration (VHA): policy recommendations from the VHA Clinical Pharmacogenetics Subcommittee |
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| Secondary findings in exome slices, virtual panels, and anticipatory sequencing |
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| Response to Roberts et al. 2018: is breast cancer truly caused by MSH6 and PMS2 variants or is it simply due to a high prevalence of these variants in the population? |
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| Response to ten Broeke |
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| Is universal tumor testing for Lynch syndrome cost-effective? It depends! |
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| Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness |
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| Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature |
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| Universal screening of Lynch syndrome is ready for implementation |
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| Validation of Version 3.0 of the Breast Cancer Genetics Referral Screening Tool (B-RST™) |
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| Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment |
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| Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis |
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| The current state of funded NIH grants in implementation science in genomic medicine: a portfolio analysis |
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| Preemptive pharmacogenetic testing: exploring the knowledge and perspectives of US payers |
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| Medical genetics and genomics education and its impact on genomic literacy of the clinical workforce |
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| Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans |
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