Duplication hotspots, rare genomic disorders, and common disease. - Wikidata - wikimedia - TriplyDB

Duplication hotspots, rare genomic disorders, and common disease.

Duplication hotspots, rare genomic disorders, and common disease.

http://www.wikidata.org/entity/Q37499225

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Modernizing reference genome assemblies Human genetics and genomics a decade after the release of the draft sequence of the human genome Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder Child development and molecular genetics: 14 years later CNVs: harbingers of a rare variant revolution in psychiatric genetics Mechanisms and dynamics of orphan gene emergence in insect genomes Properties and rates of germline mutations in humans Further clinical and molecular delineation of the 15q24 microdeletion syndrome Missing heritability and strategies for finding the underlying causes of complex disease Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.Uncovering the etiology of autism spectrum disorders: genomics, bioinformatics, environment, data collection and exploration, and future possibilities.Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.Structural genomic variation in childhood epilepsies with complex phenotypes Prioritization of epilepsy associated candidate genes by convergent analysis.Evolution of genetic and genomic features unique to the human lineage.Genomics, intellectual disability, and autism The evolution of human segmental duplications and the core duplicon hypothesis.Genomic studies in fragile X premutation carriers.A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.Rapid analysis of Saccharomyces cerevisiae genome rearrangements by multiplex ligation-dependent probe amplification.An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Discovery of structural alterations in solid tumor oligodendroglioma by single molecule analysis.The phenotype of recurrent 10q22q23 deletions and duplications.Disorders caused by chromosome abnormalities.Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3 Detection of clinically relevant exonic copy-number changes by array CGH.Genomic architecture of aggression: rare copy number variants in intermittent explosive disorder On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.A review of study designs and statistical methods for genomic epidemiology studies using next generation sequencing.Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia Modulation of the genome and epigenome of individuals susceptible to autism by environmental risk factors Rare copy number variants are an important cause of epileptic encephalopathies.Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms.Dark matter: are mice the solution to missing heritability?The genetics of microdeletion and microduplication syndromes: an update.A recurrent translocation is mediated by homologous recombination between HERV-H elements.

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Duplication hotspots, rare genomic disorders, and common disease.

http://www.wikidata.org/entity/Q37499225

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 22 May 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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Duplication hotspots, rare genomic disorders, and common disease.

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Duplication hotspots, rare genomic disorders, and common disease.

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Duplication hotspots, rare genomic disorders, and common disease.

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Duplication hotspots, rare genomic disorders, and common disease.

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Duplication hotspots, rare genomic disorders, and common disease.

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Duplication hotspots, rare genomic disorders, and common disease.

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J.GDE.2009.04.003

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Current Opinion in Genetics & Development

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Duplication hotspots, rare genomic disorders, and common disease.

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Evan E Eichler

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Heather C Mefford

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P2860

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.

Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Strong association of de novo copy number mutations with autism

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Large recurrent microdeletions associated with schizophrenia

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Structural variation of chromosomes in autism spectrum disorder

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scholarly article

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10.1016/J.GDE.2009.04.003

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