Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. (Q35923213)

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29 January 2020

title

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries (English)

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1

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Colby Chiang

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Benjamin Neale

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Mark J Daly

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Jill A Rosenfeld

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James F Gusella

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Carrie Hanscom

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Amelia M Lindgren

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Cynthia C Morton

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Lisa G Shaffer

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Adrian Heilbut

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Mark L Borowsky

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Ian Blumenthal

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Shahrin Pereira

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Vamsee K Pillalamarri

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object named as

Vamsee Pillalamarri

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Diane Lucente

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Judith Miles

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Andrea L Gropman

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author name string

Carl Ernst

7

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language of work or name

English

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publication date

19 April 2012

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29 January 2020

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29 January 2020

volume

149

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29 January 2020

page(s)

525-537

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29 January 2020

issue

3

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Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

29 January 2020

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2 October 2017

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CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

2 October 2017

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TCF4, schizophrenia, and Pitt-Hopkins Syndrome

2 October 2017

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Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

2 October 2017

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A genome-wide linkage and association scan reveals novel loci for autism

2 October 2017

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Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome

2 October 2017

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Analysis of a t(18;21)(p11.1;p11.1) translocation in a family with schizophrenia

2 October 2017

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Common genetic variants on 5p14.1 associate with autism spectrum disorders

2 October 2017

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The chromatin remodeling factor CHD8 interacts with elongating RNA polymerase II and controls expression of the cyclin E2 gene

2 October 2017

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2 October 2017

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2 October 2017

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2 October 2017

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2 October 2017

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2 October 2017

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2 October 2017

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2 October 2017

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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

24 September 2018

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Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.

24 September 2018

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24 September 2018

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Expression of mKirre in the developing sensory pathways: its close apposition to nephrin-expressing cells.

24 September 2018

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24 September 2018

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Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: large-scale survey of over 10,000 sperm donor karyotypes.

24 September 2018

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Expression of mKirre, a mammalian homolog of Drosophila kirre, in the developing and adult mouse brain.

24 September 2018

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WikiPathways: pathway editing for the people

24 September 2018

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7 July 2022

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Identifiers

DOI

10.1016/J.CELL.2012.03.028

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22521361%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference

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29 January 2020

1 reference

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