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Salma Ben-Salem
Salma Ben-Salem
Early is Good, Inc
Verified email at earlyisgood.com
Title
Cited by
Cited by
Year
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
1752012
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
1042011
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
652017
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, 687-694, 2015
492015
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
472014
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, 393-399, 2015
462015
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, 17-23, 2015
462015
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
432014
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
392014
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
292012
A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37. 1
M Hmani-Aifa, S Ben Salem, Z Benzina, W Bouassida, R Messaoud, ...
Human genetics 126, 575-587, 2009
272009
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
262016
Novel insights in cell cycle dysregulation during prostate cancer progression
S Ben-Salem, VB Venkadakrishnan, HV Heemers
Endocrine-related cancer 28 (6), R141-R155, 2021
232021
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
222016
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
222013
Entwined African and Asian genetic roots of medieval peoples of the Swahili coast.
Nature 615 (7954), 866-873, 2023
212023
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, 2013
212013
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, 661-668, 2015
192015
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
192013
A B3GALT6 variant in patient originally described as Al‐Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some …
A Ben‐Mahmoud, S Ben‐Salem, M Al‐Sorkhy, A John, BR Ali, L Al‐Gazali
Clinical Genetics 93 (6), 1148-1158, 2018
152018
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Articles 1–20