Salma Ben-Salem

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Bassam R AliProfessor of Molecular Genetics, College of Medicine, United Arab Emirates UniversityDirección de correo verificada de uaeu.ac.ae
lihadh al-gazaliProfessor in Clinical Genetics & PaediatricsDirección de correo verificada de uaeu.ac.ae
Varadha Balaji VenkadakrishnanDana-Farber Cancer InstituteDirección de correo verificada de dfci.harvard.edu
Qiang HuRoswell Park Cancer InstituteDirección de correo verificada de RoswellPark.org
Joseph G. GleesonUniversity of California, San DiegoDirección de correo verificada de ucsd.edu
Song LiuProfessor of Oncology & Vice Chair, Roswell Park Comprehensive Cancer CenterDirección de correo verificada de roswellpark.org
Shaila MudambiScientist, Meso Scale DiagnosticsDirección de correo verificada de roswellpark.org
Fowzan S Alkuraya, MDProfessor of Human Genetics, Alfaisal University and KFSHRC, Riyadh, Saudi ArabiaDirección de correo verificada de kfshrc.edu.sa
Christopher A WalshBoston Children's HospitalDirección de correo verificada de childrens.harvard.edu
Christian R SchubertMIT | Harvard | Pfizer | Biogen | Servier | Atlas Venture | AbbVieDirección de correo verificada de alum.mit.edu
Timothy W. YuHarvard Medical School and Boston Children's HospitalDirección de correo verificada de childrens.harvard.edu
Namik KayaKing Faisal Specialist Hospital and Research CenterDirección de correo verificada de kfshrc.edu.sa
Pierre Schembri WismayerAnatomy Department, University of MaltaDirección de correo verificada de um.edu.mt
Byron BaronUniversity of MaltaDirección de correo verificada de um.edu.mt
Gilad D. EvronyAssistant Professor, New York UniversityDirección de correo verificada de nyulangone.org
Giridhar MudduluruScientistDirección de correo verificada de cmh.edu
Eric A. KleinChairman Emeritus, Glickman Urological and Kidney Institute, Cleveland ClinicDirección de correo verificada de ccf.org
Nima SharifiUniversity of Miami Miller School of MedicineDirección de correo verificada de miami.edu
Ahmed RebaiProfessor of Bioinformatics/Biostatistics, Centre of Biotechnology of Sfax, University of SfaxDirección de correo verificada de cbs.rnrt.tn
Mariem ben saidMaitre de Conférences, CBSDirección de correo verificada de cbs.rnrt.tn

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Salma Ben-Salem

Early is Good, Inc

Dirección de correo verificada de earlyisgood.com

Translational cancer and clinical research


Título Ordenar por citas Ordenar por año Ordenar por título	Citado por Citado por	Año
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	182	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	113	2011
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	74	2017
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	53	2015
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	53	2015
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	52	2014
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	51	2014
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	48	2015
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	40	2021
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	39	2014
Entwined African and Asian genetic roots of medieval peoples of the Swahili coast. Nature 615 (7954), 866-873, 2023	33	2023
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	28	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	27	2016
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	27	2009
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	25	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	24	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, 2013	24	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, 661-668, 2015	19	2015
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	19	2013
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	17	2018

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