| Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia JHM Schuurs-Hoeijmakers, MT Geraghty, EJ Kamsteeg, S Ben-Salem, ... The American Journal of Human Genetics 91 (6), 1073-1081, 2012 | 126 | 2012 |
| Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice KS Nair, M Hmani-Aifa, Z Ali, AL Kearney, SB Salem, DG Macalinao, ... Nature genetics 43 (6), 579-584, 2011 | 82 | 2011 |
| METTL23, a transcriptional partner of GABPA, is essential for human cognition RE Reiff, BR Ali, B Baron, TW Yu, S Ben-Salem, ME Coulter, CR Schubert, ... Human molecular genetics 23 (13), 3456-3466, 2014 | 35 | 2014 |
| Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay S Ben-Salem, JG Gleeson, AM Al-Shamsi, B Islam, J Hertecant, BR Ali, ... Metabolic brain disease 30 (3), 687-694, 2015 | 34 | 2015 |
| A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy S Ben-Salem, AM Al-Shamsi, A John, BR Ali, L Al-Gazali Journal of Molecular Neuroscience 56 (1), 17-23, 2015 | 33 | 2015 |
| Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy RM Milhem, S Ben-Salem, L Al-Gazali, BR Ali Investigative ophthalmology & visual science 55 (6), 3423-3431, 2014 | 31 | 2014 |
| A novel single-nucleotide deletion (c. 1020delA) in NSUN2 causes intellectual disability in an Emirati child M Komara, AM Al-Shamsi, S Ben-Salem, BR Ali, L Al-Gazali Journal of Molecular Neuroscience 57 (3), 393-399, 2015 | 30 | 2015 |
| A comprehensive analysis of coregulator recruitment, androgen receptor function and gene expression in prostate cancer S Liu, S Kumari, Q Hu, D Senapati, VB Venkadakrishnan, D Wang, ... Elife 6, e28482, 2017 | 26 | 2017 |
| A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37. 1 M Hmani-Aifa, SB Salem, Z Benzina, W Bouassida, R Messaoud, K Turki, ... Human genetics 126 (4), 575, 2009 | 26 | 2009 |
| Mutation spectrum of Joubert syndrome and related disorders among Arabs S Ben-Salem, AM Al-Shamsi, JG Gleeson, BR Ali, L Al-Gazali Human genome variation 1 (1), 1-10, 2014 | 25 | 2014 |
| Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene JL Hertecant, I Ben-Rebeh, MA Marah, T Abbas, L Ayadi, SB Salem, ... European journal of medical genetics 55 (12), 671-676, 2012 | 19 | 2012 |
| A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement NA Akawi, S Ben-Salem, J Hertecant, A John, T Pramathan, ... Orphanet journal of rare diseases 11 (1), 139, 2016 | 18 | 2016 |
| Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c. 1059_1066insC mutation of the PRSS56 gene MB Said, E Chouchène, SB Salem, K Daoud, L Largueche, W Bouassida, ... Gene 528 (2), 288-294, 2013 | 18 | 2013 |
| A novel aberrant splice site mutation in RAB23 leads to an eight nucleotide deletion in the mRNA and is responsible for carpenter syndrome in a consanguineous emirati family S Ben-Salem, MA Begum, BR Ali, L Al-Gazali Molecular syndromology 3 (6), 255-261, 2012 | 15 | 2012 |
| Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings S Ben‐Salem, N Sobreira, NA Akawi, AM Al‐Shamsi, A John, ... American Journal of Medical Genetics Part A 170 (1), 156-161, 2016 | 14 | 2016 |
| Determination of the CCR5∆ 32 frequency in Emiratis and Tunisians and the screening of the CCR5 gene for novel alleles in Emiratis SA Al-Jaberi, S Ben-Salem, M Messedi, F Ayadi, L Al-Gazali, BR Ali Gene 529 (1), 113-118, 2013 | 13 | 2013 |
| Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability AM Al-Shamsi, S Ben-Salem, J Hertecant, F Al-Jasmi European journal of pediatrics 174 (5), 661-668, 2015 | 10 | 2015 |
| Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A S Ben-Salem, HL Rehm, PJ Willems, ZA Tamimi, H Ayadi, BR Ali, ... Molecular biology reports 41 (1), 193-200, 2014 | 9 | 2014 |
| A new Arab family with CEDNIK syndrome suggests a possible founder effect for the c. 223delG mutation S Ben-Salem, S Nara, AM Al-Shamsi, D Valle, BR Ali, L Al-Gazali The Journal of dermatology 42 (8), 821, 2015 | 8 | 2015 |
| Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates S Ben‐Salem, J Hertecant, AM Al‐Shamsi, BR Ali, L Al‐Gazali Birth Defects Research Part A: Clinical and Molecular Teratology 97 (12 …, 2013 | 7 | 2013 |
Bassam R AliProfessor of Molecular Genetics, College of Medicine, United Arab Emirates UniversityVerified email at uaeu.ac.ae
