(Q34475527)

2 August 2017

title

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective (English)

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2 August 2017

author name string

Whitney L Wooderchak-Donahue

1

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2 August 2017

Brendan O'Fallon

2

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2 August 2017

Larissa V Furtado

3

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2 August 2017

Jacob D Durtschi

4

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2 August 2017

Parker Plant

5

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2 August 2017

Perry G Ridge

6

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2 August 2017

Alan F Rope

7

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2 August 2017

Angela T Yetman

8

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2 August 2017

Pinar Bayrak-Toydemir

9

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2 August 2017

publication date

14 November 2012

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2 August 2017

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2 August 2017

volume

5

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2 August 2017

page(s)

50

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Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

2 August 2017

cites work

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6 July 2018

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Comparison of three targeted enrichment strategies on the SOLiD sequencing platform

6 July 2018

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Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

6 July 2018

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6 July 2018

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Cellular and molecular mechanisms of thoracic aortic aneurysms

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

6 July 2018

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Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

6 July 2018

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Mutations in NOTCH1 cause aortic valve disease

6 July 2018

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Thoracic aortic aneurysms

6 July 2018

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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

6 July 2018

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Heterozygous TGFBR2 mutations in Marfan syndrome

6 July 2018

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ESEfinder: A web resource to identify exonic splicing enhancers

6 July 2018

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6 July 2018

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Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections

21 January 2018

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FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly

21 January 2018

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Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13.

21 January 2018

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21 January 2018

Identifiers

DOI

10.1186/1755-8794-5-50

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Dimensions Publication ID

2 August 2017

0 references

1 reference

2 August 2017

1 reference