R. Badii

发表

The Qatar genome: a population-specific tool for precision medicine in the Middle East

Mahmoud Zirie, Jacqueline Salit, J. Mezey, 2016, Human Genome Variation.

Indigenous Arabs are descendants of the earliest split from ancient Eurasian populations

A. Clark, J. Mezey, J. Malek, 2016, Genome research.

The Molecular Basis of Alpha-Thalassemia in the Qatari Pediatric Population

Madeeha Kamal, R. Badii, M. Kleanthous, 2016 .

Discovering Novel Biochemical and Genetic Markers for Coronary Heart Disease in Qatari Individuals: The Initiative Qatar Cardiovascular Biorepository

I. Kullo, R. Badii, A. El-Menyar, 2020, Heart views : the official journal of the Gulf Heart Association.

Neuronal Ceroid Lipofuscinosis in Qatar: Report of a Novel Mutation in Ceroid-Lipofuscinosis, Neuronal 5 in the Arab Population

R. Badii, T. Ben-Omran, S. Mole, 2011, Journal of child neurology.

P. Gasparini, M. Mezzavilla, M. Cocca, 2022, BMC Genomic Data.

Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population

E. Fauman, K. Suhre, R. Badii, 2022, Cell genomics.

Consanguinity and Hereditary Hearing Loss in Qatar

P. Gasparini, M. Mezzavilla, G. Girotto, 2014, Human Heredity.

Bacterial expression and spectroscopic characterization of soybean leghaemoglobin a.

R. Badii, F. Rosell, E. Lloyd, 1998, The Biochemical journal.

Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.

A. Morgan, P. Gasparini, G. Girotto, 2014, Gene.

Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss

K. Steel, P. Gasparini, G. Girotto, 2013, PloS one.

Genetic testing and genomic analysis: a debate on ethical, social and legal issues in the Arab world with a focus on Qatar

R. Badii, L. Chouchane, I. Gallouzi, 2015, Journal of Translational Medicine.

Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes

Hakeem G. Almabrazi, X. Estivill, A. Clark, 2021, Nature Communications.

Lack of association between the Pro12Ala polymorphism of the PPAR-γ2 gene and type 2 diabetes mellitus in the Qatari consanguineous population

P. Froguel, N. Wareham, M. Ghoussaini, 2008, Acta Diabetologica.

Actionable genomic variants in 6045 participants from the Qatar Genome Program

X. Estivill, H. Mbarek, R. Badii, 2021, Human mutation.

Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families.

A. Morgan, I. Gandin, P. Gasparini, 2017, Mutation research.

The p.Cys169Tyr variant of connexin 26 is not a polymorphism

F. Mammano, A. Morgan, P. Gasparini, 2015, Human molecular genetics.

Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits

Hakeem G. Almabrazi, X. Estivill, W. Liu, 2021, Nature Communications.

A modulator of rho family G proteins, rhoGDI, binds these G proteins via an immunoglobulin-like domain and a flexible N-terminal arm.

G. Roberts, L. Lian, R. Badii, 1997, Structure.

Exome Sequencing Identifies Potential Risk Variants for Mendelian Disorders at High Prevalence in Qatar

J. Mezey, J. Malek, N. Hackett, 2014, Human mutation.

Exome sequencing-based identification of novel type 2 diabetes risk allele loci in the Qatari population

J. Mezey, J. Malek, R. Crystal, 2018, PloS one.

Type 2 Diabetes Risk Allele Loci in the Qatari Population

J. Mezey, J. Malek, R. Crystal, 2016, PloS one.

Structure-activity relationships in flexible protein domains: regulation of rho GTPases by RhoGDI and D4 GDI.

C. Dermardirossian, G. Bokoch, G. Roberts, 2001, Journal of molecular biology.

Mapping the binding site for the GTP-binding protein Rac-1 on its inhibitor RhoGDI-1.

G. Bokoch, G. Roberts, L. Lian, 2000, Structure.

Structure-activity Relationships in Flexible Protein Domains : Regulation of rho GTPases by RhoGDI and D 4 GDI

C. Dermardirossian, G. Bokoch, G. Roberts, 2000 .

A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population

R. Badii, A. Bener, J. Zschocke, 2006, Human mutation.

Increased Rate of Deleterious Variants in Long Runs of Homozygosity of an Inbred Population from Qatar

P. Gasparini, M. Mezzavilla, G. Girotto, 2015, Human Heredity.

The QChip1 knowledgebase and microarray for precision medicine in Qatar

J. Mezey, J. Malek, Z. Nawaz, 2022, NPJ genomic medicine.

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

Hakeem G. Almabrazi, Sina A. Gharib, Blair H. Smith, 2023, Nature Genetics.

GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population

P. Gasparini, G. Girotto, R. Badii, 2012, International journal of audiology.

Direct measurement of the pKa of aspartic acid 26 in Lactobacillus casei dihydrofolate reductase: implications for the catalytic mechanism.

G C Roberts, G. Roberts, R. Badii, 1999, Biochemistry.

Genetic testing and genomic analysis: a debate on ethical, social and legal issues in the Arab world with a focus on Qatar

P. Gasparini, R. Badii, L. Chouchane, 2015, Journal of Translational Medicine.

Structural consequences of site-directed mutagenesis in flexible protein domains: NMR characterization of the L(55,56)S mutant of RhoGDI.

A P Golovanov, D Hawkins, I Barsukov, 2001, European journal of biochemistry.

Qatar genome: Insights on genomics from the Middle East

K. Suhre, Ikhlak Ahmed, H. Mbarek, 2021, medRxiv.

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

Hakeem G. Almabrazi, Sina A. Gharib, Blair H. Smith, 2023, Nature Genetics.

Burden of Mendelian disorders in a large Middle Eastern biobank

R. Badii, Najeeb Syed, T. Ben-Omran, 2024, Genome medicine.