Associated Papers
Functional Characterization of Variants in LARP7: Report of Three New Individuals With Alazami Syndrome and a Literature Review.
Ambrose A et al.
Human Mutation, 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
Soengas-Gonda E et al.
Neuropediatrics, 2023
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.
Palumbo P et al.
Genes, 2020
de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation.
Schneeberger PE et al.
Scientific Reports, 2019
Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.
Hollink IHIM et al.
Journal of Human Genetics, 2018
Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome.
Dateki S et al.
Human Genome Variation, 2018
Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability.
Ling TT et al.
American Journal of Medical Genetics. Part A, 2016
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