Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders (Q28279421)

Roie Levy

0 references

Deborah A Nickerson

Deborah A Nickerson

0 references

Heather C. Mefford

Heather C Mefford

0 references

Bradley P. Coe

Bradley P Coe

0 references

Choli Lee

Choli Lee

0 references

Niklas Krumm

Niklas Krumm

0 references

Ian B Stanaway

Ian B Stanaway

0 references

Gemma L Carvill

Gemma Carvill

0 references

Joseph Hiatt

Joseph B Hiatt

0 references

Joshua M. Akey

Joshua M Akey

0 references

Beth Martin

Beth K Martin

0 references

Katy Ankenman

Katy Ankenman

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author name string

Laura Vives

0 references

Wenqing Fu

0 references

Jarrett D Egertson

0 references

Ian G Phelps

0 references

Akash Kumar

0 references

Jeff Munson

0 references

Diana R O'Day

0 references

Dan Doherty

0 references

Raphael Bernier

on focus list of Wikimedia project

0 references

language of work or name

English

0 references

publication date

21 December 2012

0 references

published in

Science

0 references

volume

338

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issue

6114

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page(s)

1619-22

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ScienceSource

0 references

cites work

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice

29 September 2017

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29 September 2017

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29 September 2017

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Tbr1 regulates differentiation of the preplate and layer 6.

29 September 2017

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Improved thermodynamic parameters and helix initiation factor to predict stability of DNA duplexes

29 September 2017

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29 September 2017

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29 September 2017

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2 June 2018

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Blockage of VIP during mouse embryogenesis modifies adult behavior and results in permanent changes in brain chemistry.

2 June 2018

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2 June 2018

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21 January 2018

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21 January 2018

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Pten deletion in adult hippocampal neural stem/progenitor cells causes cellular abnormalities and alters neurogenesis.

21 January 2018

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

21 January 2018

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Activity-dependent neuroprotective protein: a novel gene essential for brain formation

21 January 2018

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FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome

21 January 2018

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A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12.

21 January 2018

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Atypical presentation of a novel Presenilin 1 R377W mutation: sporadic, late-onset Alzheimer disease with epilepsy and frontotemporal atrophy

21 January 2018

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21 January 2018

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21 January 2018

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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

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21 January 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/23160955

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23160955