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Author

Ridha Mrad

Observed names: M'rad R, Mrad, Ridha, R M'Rad, R Mrad, R M’rad, R. M'Rad, R. M'rad, R. Mrad, R. M’rad, Ridha M'Rad, Ridha M'rad, Ridha Mʼrad, Ridha M’Rad, Ridha M’rad, Ridha M′rad
Observed institutions: Université Paris-Sud, Tunis University, Inserm, University of Monastir, Hôpital Charles-Nicolle, Hôpital Charles-Nicolle, Institut Pasteur de Tunis, Hôpital Antoine-Béclère, Faculté de médecine de Tunis, Tunis El Manar University
ORCID: 0000-0001-5842-5536
Observed ORCIDs: 0000-0001-5842-5536, 0000-0003-3304-8126
OpenAlex ID: A5020599344
Association of a Functional Deficit of the BK Ca Channel, a Synaptic Regulator of Neuronal Excitability, With Autism and Mental Retardation
2006 · Frédéric Laumonnier, Sébastien Roger, et al. · American Journal of Psychiatry · 179
A Homozygous Splice Mutation in the HSF4 Gene Is Associated with an Autosomal Recessive Congenital Cataract
2004 · Nizar Smaoui, Omar Beltaief, et al. · Investigative Ophthalmology & Visual Science · 99
Molecular Genetic Analysis of Tunisian Patients with a Classic Form of 21-Hydroxylase Deficiency: Identification of Four Novel Mutations and High Prevalence of Q318X Mutation
2004 · Maher Kharrat, Véronique Tardy, et al. · The Journal of Clinical Endocrinology & Metabolism · 88
A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree
2009 · L. Abaied, M. Trabelsi, et al. · American Journal of Medical Genetics Part A · 78
Screening of the Eight BBS Genes in Tunisian Families: No Evidence of Triallelism
2006 · Nizar Smaoui, Myriam Chaabouni, et al. · Investigative Ophthalmology & Visual Science · 57
Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases
2018 · Yosr Hamdi, Maroua Boujemaa, et al. · Journal of Translational Medicine · 48
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Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers
1991 · A. Sefiani, R. M'rad, et al. · Human Genetics · 46
MEFV Mutations in Tunisian Patients Suffering from Familial Mediterranean Fever
2007 · Habiba Bouhamed Chaabouni, Mohamed Ksantini, et al. · Seminars in Arthritis and Rheumatism · 41
Autism throughout genetics: Perusal of the implication of ion channels
2018 · Marwa Daghsni, Mohamad Rima, et al. · Brain and Behavior · 32
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Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
2013 · O. M'hamdi, C. Redin, et al. · Clinical Genetics · 32
Only two mutations detected in 15 Tunisian patients with 11β‐hydroxylase deficiency: the p.Q356X and the novel p.G379V
2010 · M Kharrat, S Trabelsi, et al. · Clinical Genetics · 30
Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features
2018 · Hager Jaouadi, Lilia Kraoua, et al. · Journal of Human Genetics · 29
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Prenatal diagnosis of chromosome disorders in Tunisian population#1Institute where the work was conducted is Service des Maladies Héréditaires et Congénitales Hôpital Charles Nicolle Tunis.
2001 · Habiba Chaabouni, Myriam Chaabouni, et al. · Annales de Génétique · 27
Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia
2015 · M. Jerbi, M. Ben Rekaya, et al. · British Journal of Dermatology · 25
Detection of a Frequent Duplicated CYP21A2 Gene Carrying a Q318X Mutation in a General Population With Quantitative PCR Methods
2011 · Maher Kharrat, Awatef Riahi, et al. · Diagnostic Molecular Pathology · 25
[A clinic and a paraclinic study of Tunisian population of children with autism. About 63 cases].
2006 · Ahlem Belhadj, Ridha Mrad, et al. · PubMed · 25
The Creatine Transporter Gene Paralogous at 16p11.2 Is Expressed in Human Brain
2008 · Nadia Bayou, Ridha M'rad, et al. · Comparative and Functional Genomics · 23
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Disease burden and management of Crigler‐Najjar syndrome: Report of a world registry
2022 · Sem J. Aronson, Norman Junge, et al. · Liver International · 21
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TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?
2018 · Marwa Daghsni, Saida Lahbib, et al. · Cytogenetic and Genome Research · 20
The Tunisian population history through the Crigler–Najjar type I syndrome
2008 · François M Petit, Stéphane Bézieau, et al. · European Journal of Human Genetics · 20
A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci
2018 · Yosr Hamdi, Mariem Ben Rekaya, et al. · BMC Cancer · 19
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Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients
2020 · Najah Mighri, Yosr Hamdi, et al. · Frontiers in Genetics · 18
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H syndrome: Clinical, histological and genetic investigation in Tunisian patients
2018 · Hager Jaouadi, Anissa Zaouak, et al. · The Journal of Dermatology · 17
Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations
2014 · Majdi Nagara, Konstantinos Voskarides, et al. · Genetic Testing and Molecular Biomarkers · 16
Analyse génétique du syndrome de Turner : étude tunisienne de 89 cas
2008 · I. Kammoun, M. Chaabouni, et al. · Annales d Endocrinologie · 16
Works count: 142
Citation count: 1,443
H-index: 20
I10-index: 40
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