Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. - Wikidata - awgldk - TriplyDB

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

http://www.wikidata.org/entity/Q34288660

about

Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements The Genetics of Stress-Related Disorders: PTSD, Depression, and Anxiety Disorders Explorations to improve the completeness of exome sequencing Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics.Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation.The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Human Structural Variation: Mechanisms of Chromosome Rearrangements.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Resolving complex structural genomic rearrangements using a randomized approach.Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis A recurrence-based approach for validating structural variation using long-read sequencing technology.Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

P2860

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P2860

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

http://www.wikidata.org/entity/Q34288660

description

2014 nî lūn-bûn

@nan

2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

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2014年論文

@zh-tw

2014年论文

@wuu

name

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

@ast

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

@en

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

@nl

type

label

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

@ast

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

@en

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

@nl

prefLabel

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

@ast

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

@en

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

@nl

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J.AJHG.2014.09.005

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American Journal of Human Genetics

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Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders

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Alysa E Doyle

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Carrie Hanscom

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Charles Lee

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Colm O'Dushlaine

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Ellen B Braaten

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Harrison Brand

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Hillary Ditmars

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James F Gusella

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Jessica Blais

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Jill A Rosenfeld

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P2860

Copy-number variations associated with neuropsychiatric conditions

Rare chromosomal deletions and duplications increase risk of schizophrenia

Functional impact of global rare copy number variation in autism spectrum disorders

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

Mapping copy number variation by population-scale genome sequencing

A map of human genome variation from population-scale sequencing

Strong association of de novo copy number mutations with autism

Fast and accurate short read alignment with Burrows-Wheeler transform

Structural variation of chromosomes in autism spectrum disorder

CNVs: harbingers of a rare variant revolution in psychiatric genetics

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454-461

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10.1016/J.AJHG.2014.09.005

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Michael E. Talkowski

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