Genetic Diseases, Inborn

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  Subject Areas on Research

  • "Family matters": a conceptual framework for genetic testing in children. 
  • A Genocentric Approach to Discovery of Mendelian Disorders. 
  • A Proof-of-Concept Case Study for Personalized Noninvasive Prenatal Diagnosis: Can We Put It to Work? 
  • A bivariate frailty model with a cure fraction for modeling familial correlations in diseases. 
  • A blueprint for maternal and child health primary care physician education in medical genetics and genomic medicine: recommendations of the United States secretary for health and human services advisory committee on heritable disorders in newborns and children. 
  • A classification for genetic disorders of interest to orthopaedists. 
  • A comparison of genome cohort participants' genetic knowledge and preferences to receive genetic results before and after a genetics workshop. 
  • A map of 75 human ribosomal protein genes. 
  • A molecular genetic linkage map of mouse chromosome 7. 
  • A novel nucleotide substitution in the 5' untranslated region of ANKRD26 gene is associated with inherited thrombocytopenia: a report of two new families. 
  • An approach to family-centered coordinated co-management for individuals with conditions identified through newborn screening. 
  • An inherited disorder with splenomegaly, cytopenias, and vision loss. 
  • Angiopoietin-1 is required for Schlemm's canal development in mice and humans. 
  • Another surprise from the mitochondrial genome. 
  • Applying family analyses to electronic health records to facilitate genetic research. 
  • Approach to the evaluation of heritable diseases and update on familial focal segmental glomerulosclerosis. 
  • Assessment of reproductive disorders and birth defects in communities near hazardous chemical sites. III. Guidelines for field studies of male reproductive disorders. 
  • BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. 
  • Beyond Mendel: an evolving view of human genetic disease transmission. 
  • Cell therapy for diverse central nervous system disorders: inherited metabolic diseases and autism. 
  • Cell-surface co-receptors: emerging roles in signaling and human disease. 
  • Choosing who will be disabled: genetic intervention and the morality of inclusion. 
  • ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. 
  • Clinical application of exome sequencing in undiagnosed genetic conditions. 
  • Clinical experience with array CGH: case presentations from nine months of practice. 
  • Collapsing glomerulopathy associated with inherited mitochondrial injury. 
  • Complex genetic disease: can genetic strategies in Alzheimer's disease and new genetic mechanisms be applied to epilepsy? 
  • Conduct disorder. 
  • Development and validation of the Psychological Adaptation Scale (PAS): use in six studies of adaptation to a health condition or risk. 
  • Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns. 
  • Disease Heritability Inferred from Familial Relationships Reported in Medical Records. 
  • Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data. 
  • Disease genes and chromosomes: disease maps of the human genome. Chromosome 9. 
  • Disease genes and chromosomes: disease maps of the human genome.Chromosome 12. 
  • Distribution and medical impact of loss-of-function variants in the Finnish founder population. 
  • Elaboration of tubules with active hedgehog drives parenchymal fibrogenesis in gestational alloimmune liver disease. 
  • Embryo research revisited. 
  • Epigenetics and human disease. 
  • Expression of genes from the human active and inactive X chromosomes. 
  • Finding the missing heritability of complex diseases. 
  • First trimester screening. 
  • Gene by sex interaction in the etiology of coronary heart disease and the preceding metabolic syndrome. 
  • Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. 
  • Genetic analysis of complex diseases. 
  • Genetic architecture of reciprocal CNVs. 
  • Genetic testing of families with hereditary diseases. 
  • Genetics of disease The sex chromosomes and human disease. 
  • Genic intolerance to functional variation and the interpretation of personal genomes. 
  • GenoWatch: a disease gene mining browser for association study. 
  • Genome maps 7. The human transcript map. Wall chart. 
  • Genome-wide association studies for complex traits: consensus, uncertainty and challenges. 
  • Hepatic dysfunction following busulfan and cyclophosphamide myeloablation: a retrospective, multicenter analysis. 
  • Hereditary deficiency of the sixth component of complement in man. I. Immunochemical, biologic, and family studies. 
  • Human disorders of ubiquitination and proteasomal degradation. 
  • Identification of genetic defect of an epilepsy: strategies for therapeutic advances. 
  • Identification of susceptibility loci contributing to a complex disease using conventional segregation, linkage, and association methods. 
  • Identifying genes within the genome: new ways for finding the needle in a haystack. 
  • Incorporating Functional Information in Tests of Excess De Novo Mutational Load. 
  • Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. 
  • Informative missingness in genetic association studies: case-parent designs. 
  • Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. 
  • Initial sequencing and analysis of the human genome. 
  • Integrating genetic information resources with an EHR. 
  • Interval mapping of viability loci causing heterosis in Arabidopsis. 
  • Linkage analysis with gene-environment interaction: model illustration and performance of ordered subset analysis. 
  • Long-term follow-up after diagnosis resulting from newborn screening: statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. 
  • Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. 
  • Making antisense of splicing. 
  • Metabolic engineering with recombinant adenoviruses. 
  • Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. 
  • Multiple roles of ATM in monitoring and maintaining DNA integrity. 
  • Naming and counting disorders (conditions) included in newborn screening panels. 
  • Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association. 
  • Newborn screening and the era of medical genomics. 
  • Newborn screening for severe combined immunodeficiency (SCID): a review. 
  • Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders. 
  • Parents' attitudes toward pediatric genetic testing for common disease risk. 
  • Perception of consanguineous marriages and their genetic effects among a sample of couples from Beirut. 
  • Pharmacogenetics and disease genetics of complex diseases. 
  • Pleiotropic Associations of Allelic Variants in a 2q22 Region with Risks of Major Human Diseases and Mortality. 
  • Point: Treating Human Genetic Disease One Base Pair at a Time: The Benefits of Gene Editing. 
  • Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders. 
  • Prevalence of Noncardiac and Genetic Abnormalities in Neonates Undergoing Cardiac Operations: Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database. 
  • Privatization and just healthcare. 
  • Public knowledge of and attitudes toward genetics and genetic testing. 
  • Reduced GABA synthesis in pyridoxine-dependent seizures. 
  • Report and abstracts of the 4th International Workshop on Chromosome 9. Williamsburg, Virginia, USA, April 23-25, 1995. 
  • Report and abstracts of the sixth international workshop on human chromosome 1 mapping 2000. Iowa City, Iowa, USA. 30 September-3 October 2000. 
  • Report of the Sixth International Workshop on Human Chromosome 11 Mapping 1998. Nice, France, May 2-5, 1998. 
  • Report of the committee on the genetic constitution of the X chromosome. 
  • Report of the fifth international workshop on human chromosome 1 mapping 1999. 
  • Role of transforming growth factor-beta superfamily signaling pathways in human disease. 
  • Roundtable: the politics of genetic testing. 
  • Safety of L-proline as a stabilizer for immunoglobulin products. 
  • Sequencing studies in human genetics: design and interpretation. 
  • Sex Chromosome Genetics '99. The X chromosome and recurrent spontaneous abortion: the significance of transmanifesting carriers. 
  • Social and ethical implications of advances in human genetics. 
  • Stem-cell transplantation for inherited immunodeficiency disorders. 
  • Strategies for genotype generation. 
  • Studying genetic resilience to improve human health. 
  • Supporting family adaptation to presymptomatic and "untreatable" conditions in an era of expanded newborn screening. 
  • Survey of variation in human transcription factors reveals prevalent DNA binding changes. 
  • TRPC6 and FSGS: the latest TRP channelopathy. 
  • Targeted genetic repair: an emerging approach to genetic therapy. 
  • Testing for contributions of mitochondrial DNA mutations to complex diseases. 
  • The "neurotic" edema: the parent disease and its offspring. 
  • The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease. 
  • The centrosome in human genetic disease. 
  • The ciliopathies: an emerging class of human genetic disorders. 
  • The continuum of causality in human genetic disorders. 
  • The first positive: computing positive predictive value at the extremes. 
  • The genetics of POAG in black South Africans: a candidate gene association study. 
  • The genetics of common diseases: 10 million times as hard. 
  • The human genome project and international health. 
  • The prediction of disease risk in genomic medicine. 
  • The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach. 
  • The use of single nucleotide polymorphisms in the isolation of common disease genes. 
  • The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. 
  • Thermosensory and mechanosensory perception in human genetic disease. 
  • Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine. 
  • Variation in recombination rate may bias human genetic disease mapping studies. 
  • What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children. 
  • Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 
  • [Computer programs SAN and EPID: family analysis and epidemiology of multifactorial diseases] 
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  Keywords of People

  • Hogan, Brigid L. M., George Barth Geller Distinguished Professor of Immunology, Cell Biology
  • Kearney, Hutton Moore, Assistant Consulting Professor in the Department of Pathology, Pathology