(Q24633543)

29

0 references

Terho Lehtimäki

19

0 references

Mary-Claire King

27

Mary-Claire King

0 references

Jonathan Sebat

Jonathan Sebat

1

0 references

Tom Walsh

Tom Walsh

6

0 references

James S. Sutcliffe

James S Sutcliffe

23

0 references

Peter K. Gregersen

21

Peter K Gregersen

0 references

Dorothy Warburton

26

Dorothy Warburton

0 references

David H. Ledbetter

20

David Ledbetter

0 references

author name string

B Lakshmi

2

0 references

Dheeraj Malhotra

3

0 references

Jennifer Troge

4

0 references

Christa Lese-Martin

5

0 references

Boris Yamrom

7

0 references

Seungtai Yoon

8

0 references

Alex Krasnitz

9

0 references

Jude Kendall

10

0 references

Anthony Leotta

11

0 references

Deepa Pai

12

0 references

Ray Zhang

13

0 references

Yoon-Ha Lee

14

0 references

James Hicks

15

0 references

Sarah J Spence

16

0 references

Annette T Lee

17

0 references

Kaija Puura

18

0 references

Joel Bregman

22

0 references

Vaidehi Jobanputra

24

0 references

Wendy Chung

25

0 references

David Skuse

28

0 references

T Conrad Gilliam

30

0 references

Kenny Ye

on focus list of Wikimedia project

31

0 references

language of work or name

English

0 references

publication date

20 April 2007

0 references

published in

Science

0 references

volume

316

0 references

issue

5823

0 references

page(s)

445-9

0 references

ScienceSource

0 references

cites work

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Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

7 April 2017

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7 April 2017

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Are rare variants responsible for susceptibility to complex diseases?

7 April 2017

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Genetics of autism spectrum disorder

7 April 2017

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Structural variation in the human genome

7 April 2017

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

7 April 2017

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Detection of large-scale variation in the human genome

7 April 2017

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

7 April 2017

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7 April 2017

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Oxytocin increases trust in humans

7 April 2017

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Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum

7 April 2017

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Large-scale copy number polymorphism in the human genome

7 April 2017

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Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation

7 April 2017

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Identification and characterization of the tuberous sclerosis gene on chromosome 16

7 April 2017

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

7 April 2017

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

27 September 2017

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Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

27 September 2017

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Common fragile sites, extremely large genes, neural development and cancer

27 September 2017

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Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

27 September 2017

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27 September 2017

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Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene

30 May 2018

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The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.

30 May 2018

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FRA3B and other common fragile sites: the weakest links

28 November 2018

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Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma.

28 November 2018

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28 November 2018

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28 November 2018

Identifiers

DOI

10.1126/SCIENCE.1138659

1 reference

ADS bibcode

2007Sci...316..445S

0 references

1 reference

1 reference

PubMed publication ID

17363630

1 reference