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Journal Article (172)
1.
Journal Article
98 (5), pp. 507 - 514 (2020)
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review. Clinical Genetics: an international journal of genetics in medicine 2.
Journal Article
48 (17), pp. 9804 - 9821 (2020)
A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans. Nucleic Acids Research (London) 3.
Journal Article
2020, pp. 1 - 6 (2020)
Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients. Clinical Genetics: an international journal of genetics in medicine 4.
Journal Article
8 (10), e1418 (2020)
Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability. Molecular Genetics & Genomic Medicine 5.
Journal Article
106 (6), pp. 872 - 884 (2020)
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. The American Journal of Human Genetics 6.
Journal Article
24 (11), pp. 1748 - 1768 (2019)
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular Psychiatry 7.
Journal Article
24 (7), pp. 1027 - 1039 (2019)
Genetics of intellectual disability in consanguineous families. Molecular Psychiatry 8.
Journal Article
2019, pp. 1 - 16 (2019)
Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human Mutation 9.
Journal Article
12, 12:60 (2019)
Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability. Frontiers in Molecular Neuroscience 10.
Journal Article
28 (4), pp. 598 - 614 (2019)
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. Human Molecular Genetics 11.
Journal Article
179 (1), pp. 13 - 19 (2019)
GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. Am J Med Genet A 12.
Journal Article
95 (1), pp. 151 - 159 (2019)
Effect of inbreeding on intellectual disability revisited by Trio sequencing. Clinical Genetics: an international journal of genetics in medicine 13.
Journal Article
50 (10), pp. 1442 - 1451 (2018)
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics 14.
Journal Article
2018, 13412 (2018)
The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders. Clinical Genetics: an international journal of genetics in medicine 15.
Journal Article
293 (27), pp. 10810 - 10824 (2018)
O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling. Journal of Biological Chemistry 16.
Journal Article
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Neurogenetics, pp. 1 - 11 (2018)
17.
Journal Article
9 (1), 9:10 (2018)
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells. Biology of Sex Differences 18.
Journal Article
27 (4), pp. 589 - 600 (2018)
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. Human Molecular Genetics 19.
Journal Article
23 (2), pp. 222 - 230 (2018)
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Molecular Psychiatry 20.
Journal Article
3 (6), e200 (2017)
CDKL5 variants: Improving our understanding of a rare neurologic disorder. Neurology Genetics