| Item Type | Name |
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Academic Article
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A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
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Academic Article
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Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
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Academic Article
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Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL.
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Academic Article
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Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.
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Academic Article
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A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).
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Academic Article
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Localization of the human nuclear receptor corepressor (hN-CoR) gene between the CMT1A and the SMS critical regions of chromosome 17p11.2.
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Academic Article
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Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.
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Academic Article
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Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2.
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Academic Article
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Molecular mechanisms for genomic disorders.
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Academic Article
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Regional localization of the human epithelial membrane protein genes 1, 2, and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and 19q13.3.
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Academic Article
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Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.
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Academic Article
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Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era.
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Academic Article
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A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes.
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Academic Article
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Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p.
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Academic Article
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Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction.
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Academic Article
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The complete genome of an individual by massively parallel DNA sequencing.
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Academic Article
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Clan genomics and the complex architecture of human disease.
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Academic Article
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The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.
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Academic Article
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Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?
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Academic Article
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Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders.
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Academic Article
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Copy number variation in human health, disease, and evolution.
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Academic Article
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Harnessing genomics to identify environmental determinants of heritable disease.
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Academic Article
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Implementing genomic medicine in the clinic: the future is here.
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Academic Article
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Genetics and genomics of behavioral and psychiatric disorders.
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Academic Article
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Completing the map of human genetic variation.
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Academic Article
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Genomic rearrangements and sporadic disease.
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Academic Article
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Genomic medicine and neurological disease.
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Concept
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Genomics
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Academic Article
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Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.
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Academic Article
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Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
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Academic Article
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High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.
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Academic Article
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Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
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Academic Article
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Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.
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Academic Article
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Molecular findings among patients referred for clinical whole-exome sequencing.
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Academic Article
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PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.
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Academic Article
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Assessing structural variation in a personal genome-towards a human reference diploid genome.
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Academic Article
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Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
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Academic Article
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Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
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Academic Article
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From genomic medicine to precision medicine: highlights of 2015.
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Academic Article
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Clinical genomics: from a truly personal genome viewpoint.
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Academic Article
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Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
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Academic Article
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
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Academic Article
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Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
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Academic Article
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Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
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Academic Article
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Lessons learned from additional research analyses of unsolved clinical exome cases.
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Academic Article
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Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.
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Academic Article
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Genomic disorders 20 years on-mechanisms for clinical manifestations.
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Academic Article
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SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads.
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Academic Article
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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
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Academic Article
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Insights into genetics, human biology and disease gleaned from family based genomic studies.
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Academic Article
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Genetic architecture of laterality defects revealed by whole exome sequencing.
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Grant
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Chromosome Rearrangements and Mental Retardation
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Academic Article
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2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.
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Academic Article
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Ten years of Genome Medicine.
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Academic Article
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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
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Academic Article
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A Genocentric Approach to Discovery of Mendelian Disorders.
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Academic Article
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Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
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Academic Article
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Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
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Academic Article
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Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings.
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Academic Article
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Clinical genomics and contextualizing genome variation in the diagnostic laboratory.
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Academic Article
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Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.
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Grant
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Baylor College of Medicine - Mendelian Genomics Research Center (BCM-MGRC)
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Academic Article
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Clan genomics: From OMIM phenotypic traits to genes and biology.
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Academic Article
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PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.
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Academic Article
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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
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Academic Article
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Variant-level matching for diagnosis and discovery: Challenges and opportunities.
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Academic Article
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Centers for Mendelian Genomics: A decade of facilitating gene discovery.
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Academic Article
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Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine.
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Academic Article
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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
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Academic Article
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Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.
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Academic Article
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A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
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Academic Article
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Genomics in Clinical Practice.
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