Benoı̂t Arveiler

6.5k citations

140 papers · 3.4k · h-index 33

Impact in

Developmental Biology top 2%
Cell Biology top 2%
- melanin and skin pigmentation

Papers in

Molecular Biology 75
- RNA regulation and disease 18
- Retinal Development and Disorders 9
Genetics 50
- Genomic variations and chromosomal abnormalities 22
- Genetics and Neurodevelopmental Disorders 15

Co-authors: Didier Lacombe (63 shared papers)Caroline Rooryck (37 shared papers)Jean‐Louis Mandel (15 shared papers)Fanny Morice‐Picard (23 shared papers)Cyril Goizet (19 shared papers)Eulalie Lasseaux (34 shared papers)David J. Porteous (8 shared papers)Dorothée Cailley (9 shared papers)
Journals: European Journal of Medical Genetics (12 papers)Pigment Cell & Melanoma Research (8 papers)Human Genetics (7 papers)European Journal of Human Genetics (7 papers)Genomics (5 papers)
Partner nations: France United Kingdom United States

In The Last Decade

Benoı̂t Arveiler

137 papers receiving 3.3k citations

Peers

Countries citing papers authored by Benoı̂t Arveiler

Since Specialization

Citations

This map shows the geographic impact of Benoı̂t Arveiler'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 Benoı̂t Arveiler with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Benoı̂t Arveiler more than expected).

Fields of papers citing papers by Benoı̂t Arveiler

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Benoı̂t Arveiler. 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 Benoı̂t Arveiler. The network helps show where Benoı̂t Arveiler may publish in the future.

Co-authors

The 25 scholars most cited alongside Benoı̂t Arveiler, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Benoı̂t Arveiler Line = papers co-authored together Benoı̂t Arveiler links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 140 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome Journal of Medical Genetics ·Caroline Nava, Nadine Hanna, Caroline Michot, (unknown), Nathalie Pouvreau, Tetsuya Niihori, (unknown), Yoichi Matsubara, Benoı̂t Arveiler, Didier Lacombe, Éric Pasmant, B. Parfait, Clarisse Baumann, Delphine Héron, S. Sigaudy, Annick Toutain, Marlène Rio, Alice Goldenberg, Bruno Leheup, Alain Verloès, Hélène Cavé	2007	173
2	Genomic structure and localisation within a linkage hotspot of Disrupted In Schizophrenia 1, a gene disrupted by a translocation segregating with schizophrenia Molecular Psychiatry ·J. Kirsty Millar, S. Christie, Susan M. Anderson, D. Lawson, Dawn H. Loh, Rebecca S. Devon, Benoı̂t Arveiler, Walter Muir, Douglas Blackwood, David J. Porteous	2001	153
3	Increasing the complexity: new genes and new types of albinism Pigment Cell & Melanoma Research ·Lluı́s Montoliu, Karen Grønskov, Aihua Wei, Mónica Mártinez‐García, Almudena Fernández, Benoı̂t Arveiler, Fanny Morice‐Picard, Saima Riazuddin, Tamio Suzuki, Zubair M. Ahmed, Thomas Rosenberg, Wei Li	2013	152
4	Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome European Journal of Human Genetics ·Éric Bieth, Sanaa Eddiry, Véronique Gaston, F. Lorenzini, Alexandre Buffet, Françoise Auriol, Catherine Molinas, Dorothée Cailley, Caroline Rooryck, Benoı̂t Arveiler, Jérôme Cavaillé, Jean‐Pierre Salles, M. Tauber	2014	127
5	Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients Human Molecular Genetics ·Claudia Braida, Rhoda Stefanatos, Berit Adam, Navdeep Mahajan, (unknown), Florence Niel, Cyril Goizet, Benoı̂t Arveiler, (unknown), Clotilde Lagier‐Tourenne, Jean‐Louis Mandel, Catharina G. Faber, Christine de Die‐Smulders, Frank Spaans, Darren G. Monckton	2010	123
6	COL4A1 mutation in Axenfeld–Rieger anomaly with leukoencephalopathy and stroke Annals of Neurology ·Igor Sibon, Isabelle Coupry, Patrice Ménégon, J.-L. Bouchet, Philippe Gorry, Ingrid Burgelin, Patrick Calvas, Isabelle Orignac, Vincent Dousset, Didier Lacombe, Jean‐Marc Orgogozo, Benoı̂t Arveiler, Cyril Goizet	2007	111
7	Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome Blood ·Paquita Nurden, Najet Debili, Isabelle Coupry, Marijke Bryckaert, Ibtissam Youlyouz‐Marfak, Guilhem Solé, Anne-Cécile Pons, Eliane Berrou, Frédéric Adam, Alexandre Kauskot, Jean‐Marie Daniel Lamazière, Philippe Rameau, Patricia Fergelot, Caroline Rooryck, Dorothée Cailley, Benoı̂t Arveiler, Didier Lacombe, William Vainchenker, Alan T. Nurden, Cyril Goizet	2011	111
8	Molecular characterization of a series of 990 index patients with albinism Pigment Cell & Melanoma Research ·Eulalie Lasseaux, Claudio Plaisant, Vincent Michaud, Perrine Pennamen, Aurélien Trimouille, Laëtitia Gaston, Solène Monfermé, Didier Lacombe, Caroline Rooryck, Fanny Morice‐Picard, Benoı̂t Arveiler	2018	103
9	Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13. Proceedings of the National Academy of Sciences ·Geneviève de Saint Basile, Benoı̂t Arveiler, I. Oberlé, S Malcolm, R J Levinsky, YL Lau, Marten H. Hofker, Marianne Debré, Alain Fischer, C Griscelli	1987	79
10	A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia Human Molecular Genetics ·Delphine Simon, Benoît Laloo, Malika Barillot, Thomas Barnetche, Camille Blanchard, Caroline Rooryck, Michèle Marche, Ingrid Burgelin, Isabelle Coupry, Nicolas Chassaing, Brigitte Gilbert‐Dussardier, Didier Lacombe, Christophe F. Grosset, Benoı̂t Arveiler	2010	77
11	STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients Epilepsia ·Cyril Mignot, Marie‐Laure Moutard, Oriane Trouillard, Isabelle Gourfinkel‐An, Aurélia Jacquette, Benoı̂t Arveiler, Fanny Morice‐Picard, Didier Lacombe, Catherine Chiron, Dorothée Ville, Perrine Charles, Eric Leguern, Christel Depienne, Delphine Héron	2011	76
12	Profiling candidate genes involved in wax biosynthesis in Arabidopsis thaliana by microarray analysis Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids ·Patricia Costaglioli, Jérôme Joubès, Christel Garcia, Marianne Stef, Benoı̂t Arveiler, René Lessire, Bertrand Garbay	2005	67
13	BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome Genetics in Medicine ·Perrine Pennamen, Linh Le, Angèle Tingaud‐Sequeira, Mathieu Fiore, Anne Bauters, Nguyen Van Duong Béatrice, V. Coste, Jean‐Claude Bordet, Claudio Plaisant, Modibo Diallo, Vincent Michaud, Aurélien Trimouille, Didier Lacombe, Eulalie Lasseaux, Cédric Delevoye, Fanny Morice Picard, Bruno Delobel, Michael S. Marks, Benoı̂t Arveiler	2020	59
14	Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26?q27 Human Genetics ·I. Oberl�, Giovanna Camerino, Klaus Wrogemann, Benoı̂t Arveiler, André Hanauer, Elena Raimondi, Jean‐Louis Mandel	1987	55
15	Linkage analysis suggests at least two loci for X‐linked nonspecific mental retardation American Journal of Medical Genetics ·Benoı̂t Arveiler, Yves Alembik, André Hanauer, P. A. Jacobs, Lisbeth Tranebjærg, Margareta Mikkelsen, Hugues Puissant, L. Larget Piet, Jean‐Louis Mandel	1988	52
16	Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient Pigment Cell Research ·Caroline Rooryck, Christel Roudaut, Eulalie Robine, Jörg Müsebeck, Benoı̂t Arveiler	2006	51
17	Toward a physical map of the Xq28 region in man: Linking color vision, G6PD, and coagulation factor VIII genes to an X-Y homology region Genomics ·Benoı̂t Arveiler, Anne Vincent, Jean‐Louis Mandel	1989	50
18	Close linkage of random DNA fragments from Xq 21.3–22 to X-linked agammaglobulinaemia (XLA) Human Genetics ·S Malcolm, Geneviève de Saint Basile, Benoı̂t Arveiler, YL Lau, Piroska E. Szabó, Alain Fischer, C Griscelli, Marianne Debré, Jean‐Louis Mandel, Robin E. Callard, M. E. Robertson, Judith A. Goodship, Marcus Pembrey, R J Levinsky	1987	50
19	Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia Human Genetics ·Silvana Guioli, Benoı̂t Arveiler, Barbara Bardoni, Lucia Dora Notarangelo, (unknown), Marzia Duse, Alberto G. Ugazio, I. Oberlé, Geneviève de Saint Basile, Jean‐Louis Mandel, Giovanna Camerino	1989	48
20	Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families. PubMed ·Benoı̂t Arveiler, I. Oberlé, Anne Vincent, Marten H. Hofker, P. Pearson, Jean‐Louis Mandel	1988	48

About Benoı̂t Arveiler

Benoı̂t Arveiler is a scholar working on Molecular Biology, Genetics, Cell Biology, Nutrition and Dietetics and Developmental Biology, having authored 140 papers that have together received 3.4k indexed citations. Recurring topics across this work include melanin and skin pigmentation (34 papers), Genomic variations and chromosomal abnormalities (22 papers), RNA regulation and disease (18 papers), Genetics and Neurodevelopmental Disorders (15 papers), Congenital limb and hand anomalies (13 papers), Biochemical Analysis and Sensing Techniques (13 papers), Retinal Development and Disorders (9 papers) and Chromosomal and Genetic Variations (8 papers). The work is most often cited by research in Developmental Biology (104 citations), Cell Biology (694 citations), Genetics (1.1k citations), Molecular Biology (1.7k citations) and Immunology and Allergy (129 citations). Benoı̂t Arveiler has collaborated with scholars based in France, United Kingdom and United States. Frequent co-authors include Didier Lacombe, Caroline Rooryck, Jean‐Louis Mandel, Fanny Morice‐Picard, Cyril Goizet, Eulalie Lasseaux, David J. Porteous, Dorothée Cailley, I. Oberlé and Marie‐Ange Delrue. Their work appears in journals such as European Journal of Medical Genetics, Pigment Cell & Melanoma Research, Human Genetics, European Journal of Human Genetics and Genomics.

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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Benoı̂t Arveiler

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