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Olfa Siala

Observed names: Olfa Siala Sahnoun, Olfa Siala-Sahnoun, Olfa Siala‐Sahnoun
ORCID: 0000-0003-2055-0483
Observed ORCID: 0000-0003-2055-0483
OpenAlex ID: A5091160719
LAMA2 mRNA processing alterations generate a complete deficiency of laminin-α2 protein and a severe congenital muscular dystrophy
2007 · Olfa Siala, Nacim Louhichi, et al. · Neuromuscular Disorders · 15
Severe MDC1A Congenital Muscular Dystrophy Due to a Splicing Mutation in the LAMA2 Gene Resulting in Exon Skipping and Significant Decrease of mRNA Level
2007 · Olfa Siala, Nacim Louhichi, et al. · Genetic Testing · 15
In silico investigation of the impact of synonymous variants in ABCB4 gene on mRNA stability/structure, splicing accuracy and codon usage: Potential contribution to PFIC3 disease
2016 · Boudour Khabou, Olfa Siala-Sahnoun, et al. · Computational Biology and Chemistry · 10
Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure
2012 · Olfa Siala, Neila Belguith, et al. · Gene · 10
First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome
2013 · Afif Ben Mahmoud, Olfa Siala, et al. · Gene · 8
Molecular Prenatal Diagnosis of Muscular Dystrophies in Tunisia and Postnatal Follow-Up Role
2008 · Olfa Siala, Fatma Kammoun Feki, et al. · Genetic Testing · 7
Novel sequence variations in LAMA2 and SGCG genes modulating cis-acting regulatory elements and RNA secondary structure
2010 · Olfa Siala, Ikhlass Hadj Salem, et al. · Genetics and Molecular Biology · 5
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First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene
2016 · Olfa Siala-Sahnoun, Dhoha Dhieb, et al. · Molecular Biology Reports · 3
Evaluation of the effect of c.2946+1G>T mutation on splicing in the SCN1A gene
2015 · Afif Ben Mahmoud, Riadh Ben Mansour, et al. · Computational Biology and Chemistry · 3
An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene.
2013 · Olfa Siala, Neila Belguith, et al. · Europe PMC (PubMed Central) · 3
Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low‐GGT intrahepatic cholestasis: Genetic diagnosis and genotype–phenotype correlation assessment
2023 · Boudour Khabou, Fakhri Kallabi, et al. · Annals of Human Genetics · 2
Slight variations in the SC35 ESE sequence motif among human chromosomes: a computational approach
2014 · Olfa Siala, Ahmed Rebai, et al. · Gene · 1
Subtle discrepancies of SF2/ASF ESE sequence motif among human tissues: A computational approach
2010 · Olfa Siala, Ahmed Rebai, et al. · Computational Biology and Chemistry · 1
Genetic analysis of Turner syndrome in Tunisian patients: from diagnosis to management
2023 · Olfa Siala-Sahnoun, Fatma Laadhar, et al. · Journal of The Arab Society for Medical Research
Potential dysfunctional effects of synonymous variants: Insights from an exhaustive in silico analysis of the ABCB4 gene
2018 · Boudour Khabou, Mouna Tabebi, et al. · Annals of Human Genetics
Works count: 15
Citation count: 83
H-index: 6
I10-index: 4
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