(Q37654549)

21 August 2017

1 reference

title

Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era. (English)

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21 August 2017

1 reference

Heather C Mefford

1

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PubMed ID

20010361

21 August 2017

language of work or name

English

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publication date

1 December 2009

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21 August 2017

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21 August 2017

11

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21 August 2017

836-842

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21 August 2017

12

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https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181c175d2

21 August 2017

0 references

cites work

Genetics of intellectual disability

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Interstitial deletion of (17)(p11.2p11.2) in nine patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Subtle chromosomal rearrangements in children with unexplained mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

A common molecular basis for rearrangement disorders on chromosome 22q11

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Detection of large-scale variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Global variation in copy number in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Large-scale copy number polymorphism in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Segmental duplications and copy-number variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Germ-line DNA copy number variation frequencies in a large North American population

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Diagnostic genome profiling in mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Recurrent 16p11.2 microdeletions in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Strong association of de novo copy number mutations with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Association between microdeletion and microduplication at 16p11.2 and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Large recurrent microdeletions associated with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Rare chromosomal deletions and duplications increase risk of schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

A genome-wide investigation of SNPs and CNVs in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative g

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Recent segmental duplications in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Genome architecture, rearrangements and genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Mutational mechanisms of Williams-Beuren syndrome deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

A 15q13.3 microdeletion segregating with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Characterization of a recurrent 15q24 microdeletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Evolutionary toggling of the MAPT 17q21.31 inversion region

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Mapping and sequencing of structural variation from eight human genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Fine-scale structural variation of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Characterization of six human disease-associated inversion polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Private inherited microdeletion/microduplications: implications in clinical practice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Duplication hotspots, rare genomic disorders, and common disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Novel microdeletion syndromes detected by chromosome microarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Genomic disorders ten years on.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

CNV and nervous system diseases--what's new?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Population analysis of large copy number variants and hotspots of human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

NDE1 and NDEL1: multimerisation, alternate splicing and DISC1 interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Role of DISC1 in neural development and schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Altered activity, social behavior, and spatial memory in mice lacking the NTAN1p amidase and the asparagine branch of the N-end rule pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case control and family-based studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Association and mutation analyses of 16p11.2 autism candidate genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Next-generation DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Advanced sequencing technologies: methods and goals

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Massively parallel exon capture and library-free resequencing across 16 genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Genomic imbalances associated with mullerian aplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

High Incidence of Cardiac Malformations in Connexin40-Deficient Mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C175D2

10.1097/GIM.0B013E3181C175D2

21 January 2018

Identifiers

DOI

1 reference

21 August 2017

1 reference

PubMed ID

20010361