| Genomics-informed neuropsychiatric care for neurodevelopmental disorders: Results from a multidisciplinary clinic |
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| Evaluating reproductive carrier screening using biotinidase deficiency as a model: Variants identified, variant rates, and management |
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| RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures |
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| Evolving knowledge of red flag clinical features associated with TTR p.(Val142Ile) in a diverse electronic health-record-linked biobank |
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| Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) |
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| Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) |
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| Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability |
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| Curation and reporting of pathogenic genome-wide copy-number variants in a prenatal cell-free DNA screen |
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| Fetal fraction amplification within prenatal cfDNA screening enables detection of genome-wide copy-number variants at enhanced resolution |
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| A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib |
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| Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk |
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| High yield of monogenic short stature in children from Kurdistan, Iraq: A genetic testing algorithm for consanguineous families |
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| The “genetic test request”: A genomic stewardship intervention for inpatient exome and genome orders at a tertiary pediatric hospital |
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| Payer perspectives on genomic testing in the United States: A systematic literature review |
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| Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes |
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| Opportunistic genomic screening has clinical utility: An interventional cohort study |
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| Response to Connolly et al |
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| Microcosting genomics: Challenges and opportunities |
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| Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG) |
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| Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries |
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Non-Finnish European |
| Primary care provider practices, attitudes, and confidence with hereditary cancer risk assessment and testing: A mixed methods study |
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| Trends in and predictors of patient pharmacogenomic test uptake in a national health care system |
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| Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation G |
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| The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity |
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| Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: A meta-analysis |
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| The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation |
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| Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing |
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| Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic |
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| Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization |
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| Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11 |
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| Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) |
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| Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders |
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| Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy |
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| Cost-effectiveness of population-wide genomic screening for Lynch Syndrome and polygenic risk scores to inform colorectal cancer screening |
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| Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort |
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| Evaluation of the Master’s in Genomic Medicine framework: A national, multiprofessional program to educate health care professionals in NHS England |
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| Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder |
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| The role of double heterozygotes of SLC3A1 and SLC7A9 in the prevalence of cystine stones |
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| Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum |
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| The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses |
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| Parents' experiences with sequencing of all known pediatric cancer predisposition genes in children with cancer |
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| Fraud in genetic testing: Swindling the system |
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| A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment |
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| X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation |
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| Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders |
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| Patterns of X-linked inheritance: a new approach for the genome era |
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| Mainstreaming improved adoption of germline testing for Veterans Affairs patients with metastatic prostate cancer without exacerbating disparities |
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| Biochemical testing for congenital disorders of glycosylation: A technical standard of the American College of Medical Genetics and Genomics (ACMG) |
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| AUTS2-related Syndrome: Insights from a large European cohort |
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| Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy |
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| Editorial Board |
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| Masthead |
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| Table of Contents |
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| Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing |
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| Efficacy of Transitioning from Alglucosidase Alfa to Avalglucosidase Alfa in Infantile-Onset Pompe Disease: A Single-Center Cohort Analysis |
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| Feasibility of Using Patient Navigation to Improve Identification of Hereditary Cancer Syndromes in Newly Diagnosed Colorectal Cancer Patients |
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| Intersectionality in a Sociogenomic World: How do Race, Disability, Socioeconomic Status, and Polygenic Prediction Interact to Impact Perceptions of Educational Trajectories? |
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| “All doctors should be trained in that”: The co-production and mixed-methods evaluation of an educational toolkit to enable safe, high-quality genetic healthcare for people with intellectual disabilit |
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| Addendum: Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: A clinical practice resource of the American College |
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| De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies |
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| Digital technologies in genetic counseling: recommendations for a morally sound integration |
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| Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: novel cases of Familial Chylomicronemia Syndrome from the Dyslipidemia Registry of the Spanish Ath |
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| A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases |
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| Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years |
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| Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results |
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| The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review |
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| Longitudinal outcomes in Noonan syndrome |
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| Editorial Board |
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| Masthead |
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| Table of Contents |
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| Recognizing the Evolution of Clinical Syndrome Spectrum Progression in Individuals with Single Large-Scale mitochondrial DNA deletion syndromes (SLSMDS) |
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| How do parents decide on genetic testing in pediatrics? A systematic review |
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| Parents’ Perceptions of the Utility of Genetic Testing in the NICU |
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| Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder |
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| Family genetic risk communication and reverse cascade testing in the BabySeq project |
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| Quantitative natural history modeling of -related disease based on cross-sectional data reveals genotype-phenotype correlations |
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| ClinGen recuration of hearing loss associated-genes demonstrates significant changes in gene-disease validity over time |
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| Evaluating the impact of modeling choices on the performance of integrated genetic and clinical models |
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| The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND |
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| DICER1 in pediatric and adult cancer predisposition populations: prevalence, phenotypes and mosaics |
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