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Subject Areas on Research
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"Family matters": a conceptual framework for genetic testing in children.
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A Genocentric Approach to Discovery of Mendelian Disorders.
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A Proof-of-Concept Case Study for Personalized Noninvasive Prenatal Diagnosis: Can We Put It to Work?
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A bivariate frailty model with a cure fraction for modeling familial correlations in diseases.
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A classification for genetic disorders of interest to orthopaedists.
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A map of 75 human ribosomal protein genes.
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A novel nucleotide substitution in the 5' untranslated region of ANKRD26 gene is associated with inherited thrombocytopenia: a report of two new families.
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An inherited disorder with splenomegaly, cytopenias, and vision loss.
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Angiopoietin-1 is required for Schlemm's canal development in mice and humans.
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Another surprise from the mitochondrial genome.
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Applying family analyses to electronic health records to facilitate genetic research.
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Assessment of reproductive disorders and birth defects in communities near hazardous chemical sites. III. Guidelines for field studies of male reproductive disorders.
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Breakthrough Moments: Genome Editing and Organoids.
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Cell therapy for diverse central nervous system disorders: inherited metabolic diseases and autism.
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Cell-surface co-receptors: emerging roles in signaling and human disease.
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Choosing Who Will be Disabled: Genetic Intervention and the Morality of Inclusion
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ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.
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Clinical application of exome sequencing in undiagnosed genetic conditions.
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Clinical experience with array CGH: case presentations from nine months of practice.
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Collapsing glomerulopathy associated with inherited mitochondrial injury.
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Complex genetic disease: can genetic strategies in Alzheimer's disease and new genetic mechanisms be applied to epilepsy?
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Conduct disorder.
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DNA methylation in epigenetic control of gene expression.
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Development and validation of the Psychological Adaptation Scale (PAS): use in six studies of adaptation to a health condition or risk.
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Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns.
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Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data.
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Distribution and medical impact of loss-of-function variants in the Finnish founder population.
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Elaboration of tubules with active hedgehog drives parenchymal fibrogenesis in gestational alloimmune liver disease.
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Embryo research revisited.
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Exome Sequencing and Its Emerging Role in Prenatal Genetic Diagnosis.
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First trimester screening.
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Gene by sex interaction in the etiology of coronary heart disease and the preceding metabolic syndrome.
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Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association.
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Genetic analysis of complex diseases.
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Genetics and ethics: reaffirming the tragic vision.
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Genetics of disease The sex chromosomes and human disease.
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Genic intolerance to functional variation and the interpretation of personal genomes.
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GenoWatch: a disease gene mining browser for association study.
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Genome maps 7. The human transcript map. Wall chart.
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Hepatic dysfunction following busulfan and cyclophosphamide myeloablation: a retrospective, multicenter analysis.
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Identification of genetic defect of an epilepsy: strategies for therapeutic advances.
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Identification of susceptibility loci contributing to a complex disease using conventional segregation, linkage, and association methods.
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Incorporating Functional Information in Tests of Excess De Novo Mutational Load.
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Informative missingness in genetic association studies: case-parent designs.
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Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.
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Initial sequencing and analysis of the human genome.
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Integrating genetic information resources with an EHR.
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Interval mapping of viability loci causing heterosis in Arabidopsis.
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Linkage analysis with gene-environment interaction: model illustration and performance of ordered subset analysis.
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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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Metabolic engineering with recombinant adenoviruses.
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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
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Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.
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Multiple roles of ATM in monitoring and maintaining DNA integrity.
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Naming and counting disorders (conditions) included in newborn screening panels.
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Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association.
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Newborn screening for severe combined immunodeficiency (SCID): a review.
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Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.
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Parents' attitudes toward pediatric genetic testing for common disease risk.
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Perception of consanguineous marriages and their genetic effects among a sample of couples from Beirut.
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Pleiotropic Associations of Allelic Variants in a 2q22 Region with Risks of Major Human Diseases and Mortality.
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Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.
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Prevalence of Noncardiac and Genetic Abnormalities in Neonates Undergoing Cardiac Operations: Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database.
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Privatization and just healthcare.
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Public knowledge of and attitudes toward genetics and genetic testing.
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Reduced GABA synthesis in pyridoxine-dependent seizures.
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Report and abstracts of the 4th International Workshop on Chromosome 9. Williamsburg, Virginia, USA, April 23-25, 1995.
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Report and abstracts of the sixth international workshop on human chromosome 1 mapping 2000. Iowa City, Iowa, USA. 30 September-3 October 2000.
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Report of the fifth international workshop on human chromosome 1 mapping 1999.
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Role of transforming growth factor-beta superfamily signaling pathways in human disease.
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Sequencing studies in human genetics: design and interpretation.
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Stem-cell transplantation for inherited immunodeficiency disorders.
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Strategies for genotype generation.
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Studying genetic resilience to improve human health.
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Survey of variation in human transcription factors reveals prevalent DNA binding changes.
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Targeted long-read sequencing identifies missing disease-causing variation.
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Testing for contributions of mitochondrial DNA mutations to complex diseases.
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The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.
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The first positive: computing positive predictive value at the extremes.
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The genetics of POAG in black South Africans: a candidate gene association study.
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The impact of contemporary preimplantation genetic screening and diagnosis on the detection of aneuploidy and inherited genetic diseases.
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The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach.
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The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.
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Variation in recombination rate may bias human genetic disease mapping studies.
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Viral-Mediated Gene Replacement Therapy in the Developing Central Nervous System: Current Status and Future Directions.
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Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
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[Computer programs SAN and EPID: family analysis and epidemiology of multifactorial diseases]
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Keywords of People