Bassam R Ali
机构: Professor of Molecular Genetics, College of Medicine, United Arab Emirates University
主页: uaeu.ac.ae
每年引用次数
引用次数
引用: 5,701
H-指数: 40
I10-指数 : 122
出版物: 221
Mutation spectrum of Joubert syndrome and related disorders among Arabs.
Salma Ben-Salem , Aisha M Al-Shamsi , Joseph G Gleeson , Bassam R Ali
Human genome variation 1 ( 1) 14020 -14020
17
2014
Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates
Bassam R Ali , Nadia A Akawi , Faris Chedid , Mahmood Bakir
BMC Medical Genetics 11 ( 1) 33 -33
13
2010
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.
Bassam R Ali , Jennifer L Silhavy , Matthew J Gleeson , Joseph G Gleeson
BMC Medical Genetics 13 ( 1) 80 -80
26
2012
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking
Adila Al-Kindi , Praseetha Kizhakkedath , Huifang Xu , Anne John
BMC Medical Genetics 15 ( 1) 42 -42
15
2014
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
Bassam R Ali , Jennifer L Silhavy , Nadia A Akawi , Joseph G Gleeson
Orphanet Journal of Rare Diseases 7 ( 1) 27 -27
26
2012
LINS, a modulator of the WNT signaling pathway, is involved in human cognition.
Nadia A Akawi , Fatma Al-Jasmi , Aisha M Al-Shamsi , Bassam R Ali
Orphanet Journal of Rare Diseases 8 ( 1) 87 -87
18
2013
R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.
Yousef M Abdulrazzaq , Ahmed Ibrahim , Abdullah I Al-Khayat , Nicolaas Nagelkerke
Annals of Human Genetics 73 ( 1) 125 -130
11
2009
Genomic variants in members of the Krüppel-like factor gene family are associated with disease severity and hydroxyurea treatment efficacy in β-hemoglobinopathies patients.
Apostolos Stratopoulos , Alexandra Kolliopoulou , Kariofyllis Karamperis , Anne John
Pharmacogenomics 20 ( 11) 791 -801
1
2019
Pharmacogenomics in pediatric acute lymphoblastic leukemia: promises and limitations.
Zeina N Al-Mahayri , George P Patrinos , Bassam R Ali
Pharmacogenomics 18 ( 7) 687 -699
5
2017
Correlation of SIN3A genomic variants with β-hemoglobinopathies disease severity and hydroxyurea treatment efficacy
Aikaterini Gravia , Vasiliki Chondrou , Alexandra Kolliopoulou , Alexandra Kourakli
Pharmacogenomics 17 ( 16) 1785 -1793
9
2016
Genomic variants in the ASS1 gene, involved in the nitric oxide biosynthesis and signaling pathway, predict hydroxyurea treatment efficacy in compound sickle cell disease/β-thalassemia patients
Constantina Chalikiopoulou , Anastasia-Gerasimoula Tavianatou , Argyro Sgourou , Alexandra Kourakli
Pharmacogenomics 17 ( 4) 393 -403
7
2016
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
Salma Ben-Salem , Sarah M Robbins , Nara LM Sobreira , Angeline Lyon
Journal of Medical Genetics 55 ( 2) 122 -130
3
2018
Characterization of ACE2 naturally occurring missense variants: impact on subcellular localization and trafficking
Sally Badawi , Feda E Mohamed , Nesreen R Alkhofash , Anne John
Human Genomics 16 ( 1) 1 -16
1
2022
Mendelian randomization in pharmacogenomics: The unforeseen potentials
Lubna Q Khasawneh , Zeina N Al-Mahayri , Bassam R Ali
Biomedicine \& Pharmacotherapy 150 112952
1
2022
Current opinion on the pharmacogenomics of paclitaxel-induced toxicity
Zeina N Al-Mahayri , Mohammad M AlAhmad , Bassam R Ali
Expert Opinion on Drug Metabolism \& Toxicology 17 ( 7) 785 -801
8
2021
Multiple regions contribute to membrane targeting of Rab GTPases.
Bassam R Ali , Christina Wasmeier , Lynn Lamoreux , Molly Strom
Journal of Cell Science 117 ( 26) 6401 -6412
97
2004
Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux
Alistair N Hume , Jens Buttgereit , Aydah M Al-Awadhi , Sarah S Al-Suwaidi
Human Molecular Genetics 18 ( 2) 267 -277
39
2009
Knowledge and attitudes of medical and health science students in the United Arab Emirates toward genomic medicine and pharmacogenomics: a cross-sectional study
Azhar T Rahma , Mahanna Elsheik , Iffat Elbarazi , Bassam R Ali
Journal of Personalized Medicine 10 ( 4) 191 -191
30
2020
Effectiveness of pharmacogenomic tests including CYP2D6 and CYP2C19 genomic variants for guiding the treatment of depressive disorders: Systematic review and meta-analysis of randomised controlled trials
Danilo Arnone , Omar Omar , Teresa Arora , Linda Östlundh
Neuroscience & Biobehavioral Reviews 144 104965 -104965
17
2023
Development of the pharmacogenomics and genomics literacy framework for pharmacists
Azhar T Rahma , Iffat Elbarazi , Bassam R Ali , George P Patrinos
Human Genomics 15 1 -9
12
2021
lihadh al-gazali Joseph Gleeson Theodora Katsila Eyad Elkord harry gilbert Prof. Gary Black Ron Wevers Hudson Freeze Christopher A Walsh Edgar Otto, PhD Duarte Barral Jose Ramalho Angela Brand Adrián LLerena MD PhD Professor Clinical Pharmacology Diego Forero, MD, PhD Paul Laissue Prof Ambroise Wonkam, MD, DMedSc, PhD