| A candidate gene for Familial Mediterranean Fever GG The french FMF consortium. : A. Bernot, C. Clipet, C. Dasilva, C. Devaud ... Nature Genet. 17 (1), 25-31, 1997 | 1630* | 1997 |
| ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation T Bienvenu, K Poirier, G Friocourt, N Bahi, D Beaumont, F Fauchereau, ... Human molecular genetics 11 (8), 981-991, 2002 | 348 | 2002 |
| Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever GBR Touitou I1, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D ... Arthritis Rheum 56 (5), 1706-12., 2007 | 331 | 2007 |
| Association of a Functional Deficit of the BK Ca Channel, a Synaptic Regulator of Neuronal Excitability, With Autism and Mental Retardation F Laumonnier, S Roger, P Guérin, F Molinari, R M’rad, D Cahard, ... American Journal of Psychiatry 163 (9), 1622-1629, 2006 | 207 | 2006 |
| Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences. et a Boucekkine C, Toublanc JE, Abbas N, Chaabouni H, Ouahid S, Semrouni M ... Clin Endocrinol (Oxf). 40 (6), 733-42, 1994 | 158* | 1994 |
| Update on the genetics of bardet-biedl syndrome O M'hamdi, I Ouertani, H Chaabouni-Bouhamed Molecular Syndromology 5 (2), 51-56, 2014 | 152 | 2014 |
| Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes C Redin, S Le Gras, O Mhamdi, V Geoffroy, C Stoetzel, MC Vincent, ... Journal of medical genetics 49 (8), 502-512, 2012 | 135 | 2012 |
| A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract N Smaoui, O Beltaief, S BenHamed, R M’Rad, F Maazoul, A Ouertani, ... Investigative ophthalmology & visual science 45 (8), 2716-2721, 2004 | 125 | 2004 |
| 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 HC Kharrat, V. Tardy, R. M’rad, F. Maazoul, L. Ben Jemaa, M. Refai, Y. Morel The Journal of Clinical Endocrinology & Metabolism 89 (1), 368-374, 2004 | 108 | 2004 |
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families P Makrythanasis, M Nelis, FA Santoni, M Guipponi, A Vannier, F Béna, ... Human mutation 35 (10), 1203-1210, 2014 | 91 | 2014 |
| Screening of the eight BBS genes in Tunisian families: no evidence of triallelism N Smaoui, M Chaabouni, YV Sergeev, H Kallel, S Li, N Mahfoudh, ... Investigative ophthalmology & visual science 47 (8), 3487-3495, 2006 | 69 | 2006 |
| Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes J Chen, N Smaoui, MBH Hammer, X Jiao, SA Riazuddin, S Harper, ... Investigative ophthalmology & visual science 52 (8), 5317-5324, 2011 | 66 | 2011 |
| Consanguinite dans lapopulation du nord de la Tunisie S Riou Tun Med 67, 167-172, 1989 | 58 | 1989 |
| Prenatal diagnosis of chromosome disorders in Tunisian population ZF Chaabouni H, Chaabouni M, Maazoul F, M’rad R , Ben Jemaa L , Smaoui N ... Ann.Genet. 44 (2), 99-104, 2001 | 57 | 2001 |
| Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early‐onset breast/ovarian cancer from Tunisia A Riahi, M Kharrat, ME Ghourabi, F Khomsi, A Gamoudi, I Lariani, AE May, ... Clinical Genetics 87 (2), 155-160, 2015 | 55 | 2015 |
| CARD15/NOD2 in a Tunisian population with Crohn’s disease L Zouiten-Mekki, H Zaouali, J Boubaker, S Karoui, M Fekih, S Matri, ... Digestive diseases and sciences 50, 130-135, 2005 | 54 | 2005 |
| MEFV mutations in Tunisian patients suffering from familial Mediterranean fever HB Chaabouni, M Ksantini, R M’rad, M Kharrat, M Chaabouni, F Maazoul, ... Seminars in arthritis and rheumatism 36 (6), 397-401, 2007 | 52 | 2007 |
| A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features I Rejeb, Y Saillour, L Castelnau, C Julien, T Bienvenu, P Taga, ... European journal of human genetics 16 (11), 1358-1363, 2008 | 48 | 2008 |
| Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis O M'hamdi, C Redin, C Stoetzel, I Ouertani, M Chaabouni, F Maazoul, ... Clinical Genetics 85 (2), 172-177, 2014 | 40 | 2014 |
| Conference report: Second conference of the Middle East and North Africa newborn screening initiative: Partnerships for sustainable newborn screening infrastructure and … JWHRRHMNBSSC Danuta Krotoski, Sorrel Namaste, Randa Kamal Raouf, Ibrahim El ... Genetics IN Medicine 11 (9), 663-68, 2009 | 40 | 2009 |
