Jean‐Louis Mandel

45.1k citations

333 papers · 29.3k indexed · 12 hit papers · h-index 87

Molecular Biology top 0.05%
Genetics top 0.02%
Cellular and Molecular Neuroscience top 0.05%
Cell Biology top 0.1%
Cognitive Neuroscience top 0.5%

Co-authors: Pierre Chambon Christine Kretz Didier Devys André Hanauer Yvon Trottier I. Oberlé Jocelyn Laporte Barbara Bardoni
Topics: Genetics and Neurodevelopmental Disorders (101 papers)Genetic Neurodegenerative Diseases (53 papers)Mitochondrial Function and Pathology (42 papers)
Cited by: Cellular and Molecular Neuroscience Genetics Molecular Biology
Journals: Nature Science New England Journal of Medicine
Partner nations: France United States Germany

In The Last Decade

Jean‐Louis Mandel

326 papers receiving 28.2k citations

Hit Papers

5 papers align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

1991 1.2k citations I. Oberlé, Christine Kretz et al. Science profile →
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

1993 924 citations Robert Feil, Jean‐Louis Mandel et al. profile →
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

1996 769 citations Jean‐Louis Mandel et al. profile →
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

1996 706 citations Didier Devys, Yvon Trottier et al. Nature Genetics profile →
Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3

1997 692 citations Yvon Trottier, Jean‐Louis Mandel et al. profile →
Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes

1997 602 citations C. Hindelang, Yvon Trottier et al. Human Molecular Genetics profile →
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

1997 599 citations C. R. Weber, Jean‐Louis Mandel et al. Nature Genetics profile →
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

1995 540 citations Yvon Trottier, Didier Devys et al. profile →
Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

1991 540 citations Valérie Biancalana, Christine Kretz et al. profile →
Fragile X syndrome

2017 466 citations Hervé Moine, Jean‐Louis Mandel et al. profile →
α-Amanitin: A specific inhibitor of one of two DNA-dependent RNA polymerase activities from calf thymus

1970 437 citations Jean‐Louis Mandel et al. profile →
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

2021 187 citations Jean‐Louis Mandel et al. The American Journal of Human Genetics profile →

Peers

Countries citing papers authored by Jean‐Louis Mandel

Since Specialization

Citations

This map shows the geographic impact of Jean‐Louis Mandel's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Jean‐Louis Mandel with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Jean‐Louis Mandel more than expected).

Fields of papers citing papers by Jean‐Louis Mandel

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Jean‐Louis Mandel. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Jean‐Louis Mandel. The network helps show where Jean‐Louis Mandel may publish in the future.

Co-authorship network of co-authors of Jean‐Louis Mandel

This figure shows the co-authorship network connecting the top 25 collaborators of Jean‐Louis Mandel. A scholar is included among the top collaborators of Jean‐Louis Mandel based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Jean‐Louis Mandel. Jean‐Louis Mandel is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Speech and language in DDX3X‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention 2024 ·American Journal of Medical Genetics Part B Neuropsychiatric Genetics ·(unknown),(unknown),(unknown),(unknown),(unknown),Himanshu Goel,Pauline Burger,Jean‐Louis Mandel,David Geneviève,David J. Amor,Angela Morgan	5
2	Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes 2022 ·Clinical Genetics ·(unknown),Élise Schaefer,Pauline Burger,Sarah Baer,Carmen Schröder,Jean‐Louis Mandel,Amélie Piton,Romain Coutelle	11
3	AAV‐delivered diacylglycerol kinase DGKk achieves long‐term rescue of fragile X syndrome mouse model 2022 ·EMBO Molecular Medicine ·(unknown),(unknown),(unknown),Ricardos Tabet,Fabrice Riet,Doulaye Dembélé,Jean‐Louis Mandel,Michaël Hocquemiller,Ralph Laufer,Françoise Piguet,Hervé Moine	12
4	Réflexions éthiques sur le dépistage génétique préconceptionnel en population générale : le débat français et l’avis de la Société Française de Médecine Prédictive et Personnalisée 2020 ·Ethics Medicine and Public Health ·(unknown),(unknown),Jean‐Louis Mandel,Bernard Baertschi,Damien Sanlaville,D. Zarca,A. Tolédano,(unknown),David Geneviève	0
5	XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing 2013 ·The American Journal of Human Genetics ·Amélie Piton,Claire Redin,Jean‐Louis Mandel	165
6	G–quadruplex RNA structure as a signal for neurite mRNA targeting 2011 ·EMBO Reports ·Murugan Subramanian,Florence Rage,Ricardos Tabet,Eric Flatter,Jean‐Louis Mandel,Hervé Moine	196
7	T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase 2009 ·Proceedings of the National Academy of Sciences ·Lama Al‐Qusairi,Norbert Weiss,Anne Toussaint,(unknown),Nadia Messaddeq,Christine Kretz,Despina Sanoudou,Alan H. Beggs,Bruno Allard,Jean‐Louis Mandel,Jocelyn Laporte,Vincent Jacquemond,Anna Buj‐Bello	142
8	Cells Lacking the Fragile X Mental Retardation Protein (FMRP) have Normal RISC Activity but Exhibit Altered Stress Granule Assembly 2008 ·Molecular Biology of the Cell ·(unknown),Murugan Subramanian,Eric Flatter,Jean‐Louis Mandel,Hervé Moine	79
9	Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation 2007 ·Neuromuscular Disorders ·Andoni Echaniz‐Laguna,Anne-Sophie Nicot,Sophie Carré,J. Franques,Christine Tranchant,Nicolas Dondaine,Valérie Biancalana,Jean‐Louis Mandel,Jocelyn Laporte	39
10	Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program 2006 ·Human Molecular Genetics ·(unknown),Frédéric Chalmel,Dominique Helmlinger,Aurélie Lardenois,Christelle Thibault-Carpentier,C. R. Weber,Karine Mérienne,Jean‐Louis Mandel,Olivier Poch,Didier Devys,Yvon Trottier	53
11	Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage 2005 ·Human Molecular Genetics ·Isidró Ferrer,Josef P. Kapfhammer,C. Hindelang,Stephan Kemp,N. Troffer-Charlier,Vania Broccoli,(unknown),P. A. W. Mooyer,(unknown),P. Vreken,Ronald J. A. Wanders,Jean‐Louis Mandel,Aurora Pujol	86
12	Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy 2004 ·Human Molecular Genetics ·Aurora Pujol,Isidró Ferrer,Carme Camps,(unknown),C. Hindelang,Noëlle Callizot,Montserrat Ruíz,Teresa Pàmpols,M. Girós,Jean‐Louis Mandel	158
13	Do G Quartets Orchestrate Fragile X Pathology? 2001 ·Science ·Hervé Moine,Jean‐Louis Mandel	11
14	FMR1 gene and fragile X syndrome 2000 ·American Journal of Medical Genetics ·Barbara Bardoni,Jean‐Louis Mandel,Gene S. Fisch	53
15	A Novel RNA-binding Nuclear Protein That Interacts With the Fragile X Mental Retardation (FMR1) Protein 1999 ·Human Molecular Genetics ·Barbara Bardoni,Annette Schenck,Jean‐Louis Mandel	107
16	Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males. 1996 ·PubMed ·Valérie Biancalana,Laurence Taine,J. Bouix,(unknown),Alain Chauvin,Hubert de Verneuil,Samantha J.L. Knight,Claude Stoll,Didier Lacombe,Jean‐Louis Mandel	24
17	FRAXAC2 instability 1994 ·Nature Genetics ·Robert I. Richards,K. Holman,K. Friend,A. Staples,G.R. Sutherland,C Oudet,Valérie Biancalana,Jean‐Louis Mandel	1
18	Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus. 1992 ·PubMed ·Samir Belal,(unknown),Giorgio Sirugo,(unknown),P.A. Ioannou,Fayçal Hentati,J. Beckmann,M. Koenig,Jean‐Louis Mandel,M. Ben Hamida	11
19	Physical and genetic mapping of polymorphic loci in Xq28 (DXS15, DXS52, and DXS134): analysis of a cosmid clone and a yeast artificial chromosome. 1990 ·Europe PMC (PubMed Central) ·Robert Feil,Giuseppe Palmieri,Michele D’Urso,Roland Heilig,I. Oberlé,Jean‐Louis Mandel	25
20	Cours de mécanique des milieux continus 1966 ·Jean‐Louis Mandel	70

About Jean‐Louis Mandel

Jean‐Louis Mandel is a scholar working on Genetics, Clinical Biochemistry and Molecular Biology, having authored 333 papers that have together received 29.3k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (101 papers), Genetic Neurodegenerative Diseases (53 papers) and Mitochondrial Function and Pathology (42 papers). The work is most often cited by research in Cellular and Molecular Neuroscience (7.6k citations), Genetics (9.5k citations) and Molecular Biology (21.6k citations). Jean‐Louis Mandel has collaborated with scholars based in France, United States and Germany. Frequent co-authors include Pierre Chambon, Christine Kretz, Didier Devys, André Hanauer, Yvon Trottier, I. Oberlé, Jocelyn Laporte, Barbara Bardoni, Roland Heilig and Dominique Heitz. Their work appears in journals such as Nature, Science and New England Journal of Medicine.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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