jean louis mandel

Cited by

	All	Since 2020
Citations	56936	8981
h-index	122	51
i10-index	365	159

2000

1000

500

1500

1986198719881989199019911992199319941995199619971998199920002001200220032004200520062007200820092010201120122013201420152016201720182019202020212022202320242025520 527 515 483 553 794 861 884 1071 1076 1290 1249 1446 1733 1684 1433 1558 1384 1354 1459 1479 1539 1405 1270 1455 1726 1955 1858 1951 1641 1658 1533 1713 1624 1833 1770 1872 1613 1580 308

Public access

View all

52 articles

0 articles

available

not available

Based on funding mandates

Co-authors

laporte jocelynIGBMC (Inserm, Cnrs, Strasbourg University)Verified email at igbmc.fr
Francois RousseauProfesseur, Faculté de médecine, Université LavalVerified email at fmed.ulaval.ca
Amelie PITONMCU-PH Lab of Genetic diagnosis CHU Strasbourg, Researcher at IGBMCVerified email at igbmc.fr
Durr AlexandraICMVerified email at upmc.fr
Jean MullerAssociate Professor of Genetics, Strasbourg University, Inserm, UMR_S 1112Verified email at unistra.fr
Robert FeilInstitute of Molecular Genetics of Montpellier-CNRS & University of MontpellierVerified email at igmm.cnrs.fr
Hentati FayçalMDVerified email at rns.tn
Faivre Laurenceprofesseur de génétique, Université de BourgogneVerified email at chu-dijon.fr
Claire RedinMedigenome, Swiss Institute of Genomic Medicine, Geneva, SwitzerlandVerified email at medigenome.ch
Giorgio SirugoUniversity of Pennsylvania, Perelman School of Medicine, Philadelphia, USAVerified email at pennmedicine.upenn.edu
Ricardo Fujita, Ph.D.Centro de Genética y Biología Molecular, Facultad de Medicina, Universidad de San Martin de PorresVerified email at usmp.pe
Anthony P MonacoUniversity Professor and President emeritus, Tufts UniversityVerified email at tufts.edu
Dominique HelmlingerGroup Leader, CRBM, University of MontpellierVerified email at crbm.cnrs.fr
Clotilde Lagier-TourenneMassachusetts General Hospital and Harvard Medical SchoolVerified email at mgh.harvard.edu
Frank GannonEMBL Galway Madison Herston Leicester StrasbourgVerified email at qimr.edu.au
Stephan KempAmsterdam University Medical Centers, the NetherlandsVerified email at amsterdamumc.nl
Marten HofkerProfessor of Molecular Genetics, UMCG, Groningen University, The NetherlandsVerified email at umcg.nl
Charles SchwartzDirector of Research, Greenwood Genetic CenterVerified email at ggc.org
edouard w khandjianprofesseur université lavalVerified email at crulrg.ulaval.ca
Sergio CocozzaProfessor of Medical Genetics, University of Naples (Italy)Verified email at unina.it

jean louis mandel

prof. Collège de france (chaire génétique humaine), responsable labo. diagnostic génét. CHU

Verified email at igbmc.fr

génétique humaine maladies monogéniques diagnostic génétique retard mental autisme


Title Sort by citations Sort by year Sort by title	Cited by Cited by	Year
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion V Campuzano, L Montermini, MD Molto, L Pianese, M Cossée, ... Science 271 (5254), 1423-1427, 1996	3338	1996
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome I Oberle, F Rousseau, D Heitz, C Kretz, D Devys, A Hanauer, J Boue, ... Science 252 (5009), 1097-1102, 1991	1840	1991
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters J Mosser, AM Douar, CO Sarde, P Kioschis, R Feil, H Moser, AM Poustka, ... Nature 361 (6414), 726-730, 1993	1472	1993
Clinical and genetic abnormalities in patients with Friedreich's ataxia A Dürr, M Cossee, Y Agid, V Campuzano, C Mignard, C Penet, JL Mandel, ... New England Journal of Medicine 335 (16), 1169-1175, 1996	1279	1996
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3 HL Paulson, MK Perez, Y Trottier, JQ Trojanowski, SH Subramony, ... Neuron 19 (2), 333-344, 1997	1040	1997
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats G Imbert, F Saudou, G Yvert, D Devys, Y Trottier, JM Garnier, C Weber, ... Nature genetics 14 (3), 285-291, 1996	1030	1996
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion G David, N Abbas, G Stevanin, A Dürr, G Yvert, G Cancel, C Weber, ... Nature genetics 17 (1), 65-70, 1997	974	1997
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes V Campuzano, L Montermini, Y Lutz, L Cova, C Hindelang, S Jiralerspong, ... Human molecular genetics 6 (11), 1771-1780, 1997	948	1997
The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation D Devys, Y Lutz, N Rouyer, JP Bellocq, JL Mandel Nature genetics 4 (4), 335-340, 1993	940	1993
Fragile X syndrome RJ Hagerman, E Berry-Kravis, HC Hazlett, DB Bailey, H Moine, RF Kooy, ... Nature reviews Disease primers 3 (1), 1-19, 2017	791	2017
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias Y Trottier, Y Lutz, G Stevanin, G Imbert, D Devys, G Cancel, F Saudou, ... Nature 378 (6555), 403-406, 1995	790	1995
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation F Rousseau, D Heitz, V Biancalana, S Blumenfeld, C Kretz, J Boué, ... New England Journal of Medicine 325 (24), 1673-1681, 1991	757	1991
A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast J Laporte, LJ Hu, C Kretz, JL Mandel, P Kioschis, JF Coy, SM Klauck, ... Nature genetics 13 (2), 175-182, 1996	724	1996
Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein K Ouahchi, M Arita, H Kayden, F Hentati, MB Hamida, R Sokol, H Arai, ... Nature genetics 9 (2), 141-145, 1995	715	1995
A new highly penetrant form of obesity due to deletions on chromosome 16p11. 2 RG Walters, S Jacquemont, A Valsesia, AJ De Smith, D Martinet, ... Nature 463 (7281), 671-675, 2010	632	2010
α-Amanitin: A specific inhibitor of one of two DNA-dependent RNA polymerase activities from calf thymus PC C. Kedinger, M. Gniazdowski, JL Mandel., F Biochemical and biophysical research communications, 1970	595	1970
The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif C Schaeffer, B Bardoni, JL Mandel, B Ehresmann, C Ehresmann, H Moine The EMBO journal, 2001	573	2001
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form Y Trottier, D Devys, G Imbert, F Saudou, I An, Y Lutz, C Weber, Y Agid, ... Nature genetics 10 (1), 104-110, 1995	569	1995
Ovalbumin gene is split in chicken DNA R Breathnach, JL Mandel, P Chambon Nature 270 (5635), 314-319, 1977	560	1977
Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions A Lunkes, KS Lindenberg, L Ben-Haı̈em, C Weber, D Devys, ... Molecular cell 10 (2), 259-269, 2002	519	2002

The system can't perform the operation now. Try again later.

Articles 1–20

Citations per year

Duplicate citations

Merged citations

Add co-authorsCo-authors

Follow

Cited by

Co-authors