Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Lecoquierre F et al.
Scientific Reports, 2024
38438430 (PubMed )
Supplement: 41598_2024_53358_MOESM2_ESM.xlsx › Supp_table_1_variants_analyzed
Virtual Screening of Different Subclasses of Lignans with Anticancer Potential and Based on Genetic Profile.
Maia MDS et al.
Molecules (basel, Switzerland), 2023
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?
Maia N et al.
Genes, 2021
35052418 (PubMed )
Supplement: genes-13-00078-s001.zip › genes-1494316-Table_S1.xls › Table_S1
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.
Latorre-Pellicer A et al.
International Journal of Molecular Sciences, 2020
Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome.
Krawczynska N et al.
Frontiers in Pediatrics, 2019
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P et al.
Molecular Genetics & Genomic Medicine, 2018
Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders.
Deardorff MA et al.
Protein Science : a Publication of the Protein Society, 2016
Biochemical and structural characterization of HDAC8 mutants associated with Cornelia de Lange syndrome spectrum disorders.
Decroos C et al.
Biochemistry, 2015
Histone deacetylases: structural determinants of inhibitor selectivity.
Micelli C et al.
Drug Discovery Today, 2015
Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders.
Decroos C et al.
Acs Chemical Biology, 2014
Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.
Feng L et al.
Journal of Human Genetics, 2014
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Kaiser FJ et al.
Human Molecular Genetics, 2014
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