Associated Papers
Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome.
Gil-Salvador M et al.
Scientific Reports, 2025
Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations.
Kandarpa M et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
38386293 (PubMed )
Supplement: ccr-23-0372_supplemental_table_3_suppst3.xlsx › Suppl._Table_3
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M et al.
American Journal of Medical Genetics. Part A, 2023
Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.
Gil-Salvador M et al.
Frontiers in Genetics, 2022
Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19/IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines.
Pileggi S et al.
Biomolecules, 2021
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation.
Chinen Y et al.
Human Genome Variation, 2019
31098032 (PubMed )
Supplement: 41439_2019_53_MOESM1_ESM.xlsx › Sheet1
Prognostic impacts and dynamic changes of cohesin complex gene mutations in de novo acute myeloid leukemia.
Tsai CH et al.
Blood Cancer Journal, 2017
Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S et al.
American Journal of Medical Genetics. Part A, 2017
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.
Parenti I et al.
Epigenetics, 2014
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.
Gervasini C et al.
American Journal of Medical Genetics. Part A, 2013
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