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Sami Bizzari

Observed names: Bizzari, Sami, S. Bizzari, S., Bizzari
Observed institution: Centre for Arab Genomic Studies
ORCID: 0000-0002-1604-9509
Observed ORCID: 0000-0002-1604-9509
OpenAlex ID: A5068583537
Single‐center experience of N‐linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs
2017 · Fatma Bastaki, Sami Bizzari, et al. · Annals of Human Genetics · 29
Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders
2021 · Sami Bizzari, Pratibha Nair, et al. · Genes · 25
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Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database
2023 · Sami Bizzari, Pratibha Nair, et al. · Frontiers in Genetics · 21
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Expanded PCH1D phenotype linked to EXOSC9 mutation
2019 · Sami Bizzari, Abdul Rezzak Hamzeh, et al. · European Journal of Medical Genetics · 16
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3
2020 · Sami Bizzari, Lara El-Bazzal, et al. · European Journal of Medical Genetics · 15
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Meta-analyses of the association of HLA-DRB1 alleles with rheumatoid arthritis among Arabs
2016 · Sami Bizzari, Pratibha Nair, et al. · International Journal of Rheumatic Diseases · 15
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI‐related genes from the United Arab Emirates
2017 · Fatma Bastaki, Madiha Mohamed, et al. · International Journal of Dermatology · 13
Novel SPG20 mutation in an extended family with Troyer syndrome
2017 · S. Bizzari, A. R. Hamzeh, et al. · Metabolic Brain Disease · 12
SOX11-related syndrome: report on a new case and review
2020 · Victor Wakim, Pratibha Nair, et al. · Clinical Dysmorphology · 11
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A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)
2018 · André Mégarbané, Ghassan Hmaimess, et al. · European Journal of Medical Genetics · 8
The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency
2019 · Hicham Mansour, Sandra Sabbagh, et al. · Journal of Pediatric Genetics · 7
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs
2025 · Ruchi Jain, Sami Bizzari, et al. · Genetics in Medicine Open · 6
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Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation
2019 · Pratibha Nair, Sandra Sabbagh, et al. · Molecular Syndromology · 6
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Characterization of an Emirati TMEM 138 mutation leading to Joubert syndrome
2017 · Sami Bizzari, Abdul Rezzak Hamzeh, et al. · Pediatrics International · 3
Comments on the latest meta-analysis of CAPN10 polymorphism associations with polycystic ovary syndrome
2019 · Sidra Raihan, Dawood Shariff, et al. · Gene · 2
Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference
2016 · Pratibha Nair, Sami Bizzari, et al. · Journal of Translational Medicine · 2
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Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype
2024 · Pratibha Nair, Sami Bizzari, et al. · Molecular Syndromology · 1
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Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy
2026 · Stephany El-Hayek, Aboulfazl Rad, et al. · Journal of Neuromuscular Diseases
Blended Phenotypes in Siblings: Dual Diagnoses of Nicolaides-Baraitser and Craniosynostosis Syndromes
2025 · Sami Bizzari, Cybel Mehawej, et al. · Molecular Syndromology
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Expanded Clinical and Genetic Characterization of Autosomal Recessive HMGCR-RelatedLimb-Girdle Muscular Dystrophy
2025 · Aboulfazl Rad, El-Hayek, Stephany, et al.
Works count: 22
Citation count: 192
H-index: 9
I10-index: 9
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