(Q28262120)

Yu Sun

3

0 references

Maartje Nielsen

Maartje Nielsen

6

0 references

Christian Gilissen

Christian Gilissen

5

0 references

Sarina G. Kant

7

Sarina G Kant

0 references

Yvonne Hilhorst-Hofstee

10

Yvonne Hilhorst-Hofstee

0 references

author name string

Gijs W E Santen

1

0 references

Emmelien Aten

2

0 references

Rowida Almomani

4

0 references

Irina N Snoeck

8

0 references

Els A J Peeters

9

0 references

Marja W Wessels

11

0 references

Nicolette S den Hollander

12

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Claudia A L Ruivenkamp

13

0 references

Martijn H Breuning

15

0 references

Johan T den Dunnen

16

0 references

Arie van Haeringen

17

0 references

Marjolein Kriek

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

18

0 references

language of work or name

English

0 references

publication date

18 March 2012

0 references

published in

Nature Genetics

0 references

volume

44

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issue

4

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page(s)

379-80

0 references

cites work

1 reference

https://api.crossref.org/works/10.1038/NG.2217

21 April 2017

Coffin-Siris syndrome

1 reference

https://api.crossref.org/works/10.1038/NG.2217

Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG.2217

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG.2217

Dynamics of expression of ARID1A and ARID1B subunits in mouse embryos and in cells during the cell cycle

21 April 2017

1 reference

12 December 2020

Unlocking Mendelian disease using exome sequencing

1 reference

12 December 2020

Genetic and epigenetic networks in intellectual disabilities.

1 reference

12 December 2020

The Coffin-Siris syndrome: report of a family and further delineation.

1 reference

12 December 2020

Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study

1 reference

12 December 2020

Mental Retardation With Absent Fifth Fingernail and Terminal Phalanx

1 reference

12 December 2020

The Coffin-Siris syndrome: five new cases including two siblings

1 reference

12 December 2020

A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum

1 reference

12 December 2020

ATP-dependent chromatin remodeling: genetics, genomics and mechanisms

1 reference

12 December 2020

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

1 reference

https://api.crossref.org/works/10.1038%2FNG.2217

7 January 2021