Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome (Q34556894)

3 August 2017

title

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

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3 August 2017

Peggy S Eis

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Evan E Eichler

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3 August 2017

Donna G Albertson

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3 August 2017

Rebecca R Selzer

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3 August 2017

Regina Regan

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3 August 2017

Rick Segraves

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3 August 2017

Andrew J Sharp

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3 August 2017

Sierra Hansen

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3 August 2017

Ze Cheng

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3 August 2017

Jane A Hurst

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3 August 2017

Helen Stewart

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3 August 2017

Sue M Price

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3 August 2017

Edward Blair

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3 August 2017

Raoul C Hennekam

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3 August 2017

Carrie A Fitzpatrick

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3 August 2017

Todd A Richmond

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3 August 2017

Cheryl Guiver

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3 August 2017

Daniel Pinkel

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3 August 2017

Stuart Schwartz

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3 August 2017

Samantha J L Knight

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3 August 2017

language of work or name

English

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publication date

13 August 2006

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3 August 2017

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3 August 2017

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3 August 2017

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3 August 2017

page(s)

1038-1042

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Recent segmental duplications in the human genome

3 August 2017

cites work

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Integration of cytogenetic landmarks into the draft sequence of the human genome

21 January 2018

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Genome architecture, rearrangements and genomic disorders

21 January 2018

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Large-scale copy number polymorphism in the human genome

21 January 2018

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Detection of large-scale variation in the human genome

21 January 2018

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21 January 2018

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Segmental duplications and copy-number variation in the human genome

21 January 2018

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Fine-scale structural variation of the human genome

21 January 2018

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

21 January 2018

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Subtle chromosomal rearrangements in children with unexplained mental retardation

21 January 2018

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A common molecular basis for rearrangement disorders on chromosome 22q11

21 January 2018

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Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

21 January 2018

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Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome

21 January 2018

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A common inversion under selection in Europeans

21 January 2018

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Diagnostic genome profiling in mental retardation

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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Quantifying the mechanisms for segmental duplications in mammalian genomes by statistical analysis and modeling

21 January 2018

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Genetic variation affects de novo translocation frequency.

21 January 2018

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Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH.

21 January 2018

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

21 January 2018

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Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

21 January 2018

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7 January 2021

The tau H2 haplotype is almost exclusively Caucasian in origin

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7 January 2021

A haplotype map of the human genome

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7 January 2021

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

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7 January 2021

Identifiers

DOI

10.1038/NG1862

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3 August 2017

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