ArticleHuman genetics2007
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Article in Human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed.
- Developmental and foliation changes due to dysregulation of adenosine kinase in the cerebellum.Scientific reports · 2023Article
- Genome-wide analysis of runs of homozygosity in Pakistani controls with no history of speech or language-related developmental phenotypes.Annals of human biology · 2023Article
- Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms.Frontiers in neurology · 2023Article
- A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.BMC medical genomics · 2022Article
- Distinct Autism Spectrum Disorder Phenotype and Hand-Flapping Stereotypes: Two Siblings with Novel Homozygous Mutation inMolecular syndromology · 2022Article
- Genetic etiology of hearing loss in Iran.Human genetics · 2022Review
- Rare diseases: human genome research is coming home.Cold Spring Harbor molecular case studies · 2022Article
- Review
- Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.Genes & genomics · 2021Article
- Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.Molecular genetics & genomic medicine · 2020Article
- Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.Molecular genetics & genomic medicine · 2020Article
- Genetics of intellectual disability in consanguineous families.Molecular psychiatry · 2019Article
- TRAPPC9: Novel insights into its trafficking and signaling pathways in health and disease (Review).International journal of molecular medicine · 2018Review
- Emerging Role of Purine Metabolizing Enzymes in Brain Function and Tumors.International journal of molecular sciences · 2018Review
- Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.Molecular psychiatry · 2018Article
- The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.European journal of human genetics : EJHG · 2018Article
- Epigenetic profiling of ADHD symptoms trajectories: a prospective, methylome-wide study.Molecular psychiatry · 2017Article
- BOD1 Is Required for Cognitive Function in Humans and Drosophila.PLoS genetics · 2016Article
- Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.Journal of medical genetics · 2015Article
- A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.Journal of molecular neuroscience : MN · 2015Article
Corrections and comments
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Authors and funding
21 authors.
Funding
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Abstract
Autosomal recessive gene defects are arguably the most important, but least studied genetic causes of severe cognitive dysfunction. Homozygosity mapping in 78 consanguineous Iranian families with nonsyndromic autosomal recessive mental retardation (NS-ARMR) has enabled us to determine the chromosomal localization of at least 8 novel gene loci for this condition. Our data suggest that in the Iranian population NS-ARMR is very heterogeneous, and they argue against the existence of frequent gene defects that account for more than a few percent of the cases.
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