(Q53553888)

15 May 2018

title

A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. (English)

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15 May 2018

disability affecting intellectual abilities

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intellectual disability

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based on heuristic

inferred from title

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1

Gareth Baynam

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15 May 2018

Angela Overkov

2

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15 May 2018

Mark Davis

3

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15 May 2018

Kym Mina

4

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15 May 2018

Lyn Schofield

5

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15 May 2018

Richard Allcock

6

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15 May 2018

Nigel Laing

7

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15 May 2018

Matthew Cook

8

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15 May 2018

Hugh Dawkins

9

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15 May 2018

Jack Goldblatt

10

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15 May 2018

language of work or name

English

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publication date

6 April 2015

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15 May 2018

American Journal of Medical Genetics

published in

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15 May 2018

volume

167

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15 May 2018

issue

7

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15 May 2018

page(s)

1659-1667

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15 May 2018

The facial evolution: looking backward and moving forward

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37070

Objective monitoring of mTOR inhibitor therapy by three-dimensional facial analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37070

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37070

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37070

Activation and function of the MAPKs and their substrates, the MAPK-activated protein kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37070

Focal brain malformations: seizures, signaling, sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37070

mTOR Inhibitors in Tuberous Sclerosis Complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37070

Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37070

A diverse array of cancer-associated MTOR mutations are hyperactivating and can predict rapamycin sensitivity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37070

Coordinate activation of Shh and PI3K signaling in PTEN-deficient glioblastoma: new therapeutic opportunities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37070

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37070

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37070

Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37070

Growing roles for the mTOR pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37070

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37070

Ciliopathies: an expanding disease spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37070

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37070

1 reference

15 May 2018

1 reference

15 May 2018