Whole exome sequencing identified a novel nonsense INPP4A mutation in a family with intellectual disability-Reference-Cited by-同舟云学术

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Whole exome sequencing identified a novel nonsense INPP4A mutation in a family with intellectual disability

Published:2020-04 Issue:4 Volume:63 Page:103846
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Banihashemi Sara,Tahmasebi-Birgani Maryam,Mohammadiasl Javad,Hajjari Mohammadreza

Funder

Ahvaz Jondishapour University of Medical Sciences

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference33 articles.

1. Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization;Behjati;Indian J. Hum. Genet.,2013

2. Advances in Understanding–Genetic Basis of Intellectual Disability;Chiurazzi,2016

3. Severe intellectual disability and autistic features associated with microduplication 2q23. 1;Chung;Eur. J. Hum. Genet.,2012

4. Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles;Coban-Akdemir;Am. J. Hum. Genet.,2018

5. Mental ill-health in adults with intellectual disabilities: prevalence and associated factors;Cooper;Br. J. Psychiatr.,2007

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1. Attenuated cerebellar phenotypes in Inpp4a truncation mutants with preserved phosphatase activity;Disease Models & Mechanisms;2023-07-01

2. A novel INPP4A mutation with pontocerebellar hypoplasia, myoclonic epilepsy, microcephaly, and severe developmental delay;Brain and Development;2023-05

3. INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms;neurogenetics;2023-01-19

4. Structural variation and eQTL analysis in two experimental populations of chickens divergently selected for feather-pecking behavior;neurogenetics;2022-11-30

5. The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families;Scientific Reports;2022-11-07

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