(Q36823411)

16 August 2017

Genetic testing in autism: how much is enough? (English)

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16 August 2017

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Kim L McBride

6

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author name string

Gail E Herman

1

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16 August 2017

Nathan Henninger

2

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16 August 2017

Karen Ratliff-Schaub

3

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16 August 2017

Matthew Pastore

4

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16 August 2017

Sara Fitzgerald

5

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16 August 2017

language of work or name

English

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publication date

1 May 2007

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16 August 2017

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16 August 2017

9

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16 August 2017

5

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16 August 2017

268-274

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https://scigraph.springernature.com/pub.10.1097/gim.0b013e31804d683b

16 August 2017

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cites work

The genetics of autism

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

The search for autism disease genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Current perspectives on the genetic analysis of autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Epigenetics and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Epigenetics of autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Identifying environmental contributions to autism: provocative clues and false leads

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

The Autism Genome Project: goals and strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Evidence for multiple loci from a genome scan of autism kindreds.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

The yield of subtelomeric FISH analysis in the evaluation of autistic spectrum disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

The yield of the medical evaluation of children with pervasive developmental disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Etiologic yield of autistic spectrum disorders: a prospective study

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Linguistic and cognitive functioning and autism symptoms in young children with fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Recent advances in fragile X: a model for autism and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Laboratory diagnosis of defects of creatine biosynthesis and transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Inborn errors of sterol biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Abnormalities of cholesterol metabolism in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Angelman syndrome 2005: updated consensus for diagnostic criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

MeCP2 dysfunction in Rett syndrome and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Does genotype predict phenotype in Rett syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Adenylosuccinate lyase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Disorders of purine and pyrimidine metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Broader autism phenotype: evidence from a family history study of multiple-incidence autism families

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Autistic traits in the general population: a twin study

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Characteristics of the broader phenotype in autism: a study of siblings using the children's communication checklist-2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Risk factors for autism: perinatal factors, parental psychiatric history, and socioeconomic status

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

47,XYY karyotypes and pervasive developmental disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Associated medical disorders and disabilities in children with autistic disorder: a population-based study

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31804D683B

10.1097/GIM.0B013E31804D683B

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

16 August 2017

0 references

1 reference