Dominique Bozon

3.6k citations

57 papers · 2.4k indexed · 1 hit paper · h-index 23

Pulmonary and Respiratory Medicine top 2%
- Cystic Fibrosis Research Advances 15
- Neonatal Respiratory Health Research 9
Genetics top 5%
Clinical Biochemistry top 2%
- Metabolism and Genetic Disorders 6
Physiology top 10%
- Lysosomal Storage Disorders Research 10
Molecular Biology top 10%
- Mitochondrial Function and Pathology 5
- RNA Research and Splicing 5
- Porphyrin Metabolism and Disorders 4
Rheumatology
- Glycogen Storage Diseases and Myoclonus 6

Co-authors: Johanna M. Rommens Julian Zielenski Batsheva Kerem D. Markiewicz Peter R. Durie Lap-Chee Tsui Richard Rozmahel John R. Riordan
Cited by: Pulmonary and Respiratory Medicine Genetics Clinical Biochemistry
Journals: Proceedings of the National Academy of Sciences (1 paper)SHILAP Revista de lepidopterología (1 paper)Neurology (1 paper)
Partner nations: France Canada United States

In The Last Decade

Dominique Bozon

57 papers receiving 2.4k citations

Hit Papers

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Peers

Countries citing papers authored by Dominique Bozon

Since Specialization

Citations

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

Fields of papers citing papers by Dominique Bozon

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network

The 25 scholars most cited alongside Dominique Bozon, 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 Dominique Bozon Line = papers co-authored together Dominique Bozon links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia Atherosclerosis ·Mathilde Di Filippo,Sophie Collardeau‐Frachon,Alexandre Janin,Sujith Rajan,Oriane Marmontel,Charlotte Decourt,Amandine Rubio,Séverine Nony,Sabrina Dumont,Charlotte Cuerq,Sybil Charrière,Philippe Moulin,Alain Lachaux,M. Mahmood Hussain,Dominique Bozon,Noël Peretti	2019	9
2	Single, short in‐del, and copy number variations detection in monogenic dyslipidemia using a next‐generation sequencing strategy Clinical Genetics ·Oriane Marmontel,Sybil Charrière,Thomas Simonet,Véronique Bonnet,Sabrina Dumont,Murielle Mahl,Chantal Jacobs,Séverine Nony,Kaddour Chabane,Dominique Bozon,Alexandre Janin,Noël Peretti,Alain Lachaux,Claire Bardel,Gilles Millat,Philippe Moulin,Christophe Marçais,Mathilde Di Filippo	2018	15
3	Functional Characterization of Putative Novel Splicing Mutations in the Cardiomyopathy-Causing Genes DNA and Cell Biology ·Gilles Millat,Estèle Lafont,Séverine Nony,Isabelle Rouvet,Dominique Bozon	2015	12
4	POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome Mitochondrion ·Bénédicte Mousson de Camaret,Maïté Chassagne,Martine Mayençon,Sylvie Padet,Hervé Crehalet,P. Clerc-Renaud,Isabelle Rouvet,M. T. Zabot,François Rivier,Pierre Sarda,Vincent des Portes,Dominique Bozon	2010	5
5	U1 snRNA mis-binding: a new cause of CMT1B Neurogenetics ·Hervé Crehalet,Philippe Latour,Véronique Bonnet,Shahram Attarian,Pierre Labauge,Nathalie Bonello‐Palot,Rafaëlle Bernard,Gilles Millat,Robert Rousson,Dominique Bozon	2009	16
6	Elucidation of penetrance variability of aZIC3mutation in a family with complex heart defects and functional analysis ofZIC3mutations in the first zinc finger domain Human Mutation ·Brigitte Chhin,Minoru Hatayama,Dominique Bozon,Miyuki Ogawa,Patric Schön,Takahide Tohmonda,F Sassolas,Jun Aruga,Anna-Gaëlle Valard,Su‐chiung Chen,Patrice Bouvagnet	2007	42
7	Mucopolysaccharidosis type II – genotype/phenotype aspects Acta Paediatrica ·Roseline Froissart,I Moreira da Silva,Nathalie Guffon,Dominique Bozon,I Maire	2002	43
8	Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1 Human Mutation ·Paulo Koch Nogueira,Tran Son Vuong,Olivier Bouton,Anne Maillard,Martial Marchand,Marie Odile Rolland,Pierre Cochat,Dominique Bozon	2000	16
9	The 2.1-, 5.4- and 5.7-kb transcripts of the IDS gene are generated by different polyadenylation signals Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression ·Stéphane Cudry,Roseline Froissart,Olivier Bouton,Irène Maire,Dominique Bozon	1999	8
10	Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone Human Genetics ·Marie‐Catherine Romey,Caroline Guittard,J. P. Chazalette,Philippe Frossard,K. P. Dawson,M A Patton,Teresa Casals,T. Bazarbachi,Emmanuelle Girodon,G. Rault,Dominique Bozon,Fabienne Séguret,Jacques Demaille,Mireille Claustres	1999	23
11	Combined liver-kidney transplantation in primary hyperoxaluria type 1 European Journal of Pediatrics ·Pierre Cochat,Jean‐Michel Gaulier,Paulo César Koch Nogueira,Janusz Feber,Neville V. Jamieson,Marie-Odile Rolland,P. Divry,Dominique Bozon,Laurence Dubourg	1999	59
12	Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients Clinical Genetics ·Roseline Froissart,Irène Maire,Gilles Millat,Stéphane Cudry,Anne‐Marie Birot,Véronique Bonnet,Olivier Bouton,Dominique Bozon	1998	44
13	IDS Transfer from Overexpressing Cells to IDS-Deficient Cells Experimental Cell Research ·Gilles Millat,Roseline Froissart,I Maire,Dominique Bozon	1997	16
14	A novel gly290asp mitochondrial cytochromebmutation linked to a complex III deficiency in progressive exercise intolerance Molecular and Cellular Probes ·R. Dumoulin,I. Sagnol,Thérèse Ferlin,Dominique Bozon,Grzegorz J. Stępień,B. Mousson	1996	78
15	A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient Human Mutation ·Anne‐Marie Birot,B Delobel,P. Gronnier,Véronique Bonnet,I Maire,Dominique Bozon	1996	21
16	IDS gene-pseudogene exchange responsible for an intragenic deletion in a hunter patient Human Mutation ·Anne‐Marie Birot,Olivier Bouton,Roseline Froissart,Irène Maire,Dominique Bozon	1996	24
17	A 13-bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient Human Mutation ·Renaud-Laurian Touraine,Marie-Odile Rolland,P. Divry,Monique Mathieu,P Guibaud,Dominique Bozon	1995	5
18	Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 +1G→T and 711 +1G→T mutations Human Molecular Genetics ·Julian Zielenski,Dominique Bozon,D. Markiewicz,G Aubin,Fernand Simard,Johanna M. Rommens,Lap‐Chee Tsui	1993	23
19	A novel frame-shift mutation in exon 4 of the cystic fibrosis gene (435insA) demonstrates the ambiguity of restriction analysis for mutation screening Human Molecular Genetics ·Nanette Kälin,Thilo Dörk,Dominique Bozon,Burkhard Tümmler	1992	4
20	δ°‐Thalassemia in cis of β^Knossos‐globin gene Normal structure and normal transient expression of the δ‐globin gene FEBS Letters ·Roland Ouazana,Dominique Bozon,Faouzi Baklouti,C. Gonnet,J. Delaunay,Jacqueline Godet	1989	3

About Dominique Bozon

Dominique Bozon is a scholar working on Clinical Biochemistry, Genetics and Pulmonary and Respiratory Medicine, having authored 57 papers that have together received 2.4k indexed citations. Recurring topics across this work include Cystic Fibrosis Research Advances (15 papers), Lysosomal Storage Disorders Research (10 papers), Neonatal Respiratory Health Research (9 papers), Metabolism and Genetic Disorders (6 papers), Glycogen Storage Diseases and Myoclonus (6 papers), Mitochondrial Function and Pathology (5 papers), RNA Research and Splicing (5 papers) and Porphyrin Metabolism and Disorders (4 papers). The work is most often cited by research in Pulmonary and Respiratory Medicine (1.4k citations), Genetics (336 citations) and Clinical Biochemistry (179 citations). Dominique Bozon has collaborated with scholars based in France, Canada and United States. Frequent co-authors include Johanna M. Rommens, Julian Zielenski, Batsheva Kerem, D. Markiewicz, Peter R. Durie, Lap-Chee Tsui, Richard Rozmahel, John R. Riordan, Zbyszko Grzelczak and Roseline Froissart. Their work appears in journals such as Proceedings of the National Academy of Sciences, SHILAP Revista de lepidopterología and Neurology.

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