(Q48533762)

12 February 2018

title

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability. (English)

1 reference

12 February 2018

main subject

cognitive dysfunction

1 reference

1 reference

5

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12 February 2018

Corrado Romano

11

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12 February 2018

Adamo Pio d'Adamo

14

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12 February 2018

Francesca Faletra

Francesca Faletra

3

0 references

Pietro Palumbo

Pietro Palumbo

8

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Diego Vozzi

Diego Vozzi

13

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Ilaria Gandin

Ilaria Gandin

1

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Flavio Faletra

Flavio Faletra

2

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Orazio Palumbo

Orazio Palumbo

9

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Massimo Carella

Massimo Carella

4

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author name string

Giovanni B Ferrero

6

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12 February 2018

Elisa Biamino

7

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12 February 2018

Paolo Bosco

10

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12 February 2018

Chiara Belcaro

12

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12 February 2018

language of work or name

English

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publication date

18 September 2014

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12 February 2018

published in

Genetics in Medicine

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12 February 2018

volume

17

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12 February 2018

issue

5

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12 February 2018

page(s)

396-399

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12 February 2018

https://scigraph.springernature.com/pub.10.1038/gim.2014.118

exact match

0 references

cites work

The epidemiology of mental retardation: challenges and opportunities in the new millennium

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.118

Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.118

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.118

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.118

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.118

Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.118

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.118

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.118

Evidence of inbreeding depression on human height

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.118

Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.118

Runs of homozygosity implicate autozygosity as a schizophrenia risk factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.118

Runs of homozygosity associated with speech delay in autism in a taiwanese han population: evidence for the recessive model

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.118

Intellectual disability is associated with increased runs of homozygosity in simplex autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.118

Genomic runs of homozygosity record population history and consanguinity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.118

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.118

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.118

Long runs of homozygosity are enriched for deleterious variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.118

Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25232855

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/GIM.2014.118

1 reference

12 February 2018

PubMed ID

25232855

1 reference

12 February 2018