Bertrand Isidor

17.0k citations

112 papers · 2.1k indexed · h-index 26

Co-authors: Cédric Le Caignec Albert David Olivier Pichon Stéphane Bezieau Valérie Cormier‐Daire Martine Le Merrer Dominique Martin‐Coignard Noriko Miyake
Topics: Genetics and Neurodevelopmental Disorders (22 papers)Genomic variations and chromosomal abnormalities (20 papers)Genomics and Rare Diseases (14 papers)
Cited by: Genetics Developmental Biology Molecular Biology
Journals: Nature Genetics Molecular Cell Brain
Partner nations: France United States Germany

In The Last Decade

Bertrand Isidor

110 papers receiving 2.0k citations

Peers

Countries citing papers authored by Bertrand Isidor

Since Specialization

Citations

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

Fields of papers citing papers by Bertrand Isidor

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Bertrand Isidor

This figure shows the co-authorship network connecting the top 25 collaborators of Bertrand Isidor. A scholar is included among the top collaborators of Bertrand Isidor 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 Bertrand Isidor. Bertrand Isidor is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

#	Work	Indexed citations
1	Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access Program 2025 ·Hormone Research in Paediatrics ·Valérie Cormier‐Daire,Thomas Édouard,Bertrand Isidor,Swati Mukherjee,Jeanne M. Pimenta,Massimiliano Rossi,Élise Schaefer,Sabine Sigaudy,Geneviève Baujat	2
2	Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene 2024 ·Neurology Clinical Practice ·(unknown),Dong Li,(unknown),Armelle Magot,(unknown),Yann Péréon,Marie Vincent,Bertrand Isidor,Damien Sternberg,Elizabeth M. McCormick,Håkon Håkonarson,Sandra Mercier,Marni J. Falk	1
3	The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders 2023 ·Frontiers in Neuroscience ·Katrine M. Johannesen,Jimmi Nielsen,Anne Sabers,Bertrand Isidor,(unknown),(unknown),(unknown),(unknown),(unknown),Jakob Christensen,(unknown),(unknown),Rikke S. Møller,Guido Rubboli	4
4	Expanding the phenotype of HNRNPU‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature 2022 ·American Journal of Medical Genetics Part A ·James R. Taylor,(unknown),(unknown),Antonio Vitobello,Christophe Philippe,Ange‐Line Bruel,Gerarda Cappuccio,Nicola Brunetti‐Pierri,Marjolaine Willems,Bertrand Isidor,Kristen Park,Meena Balasubramanian	12
5	Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder 2021 ·Clinical Genetics ·Jonathan Lévy,(unknown),Anna Maruani,(unknown),Céline Dupont,Séverine Drunat,(unknown),(unknown),Richard Delorme,(unknown),Bertrand Isidor,Olivier Pichon,Kamran Moradkhani,Alain Verloès,Anne‐Claude Tabet	8
6	MAN1B1-CDG: Three new individuals and associated biochemical profiles 2021 ·Molecular Genetics and Metabolism Reports ·(unknown),Sophie Cholet,(unknown),Bertrand Isidor,Benjamin Cogné,Sandrine Vuillaumier‐Barrot,Thierry Dupré,(unknown),Emmanuelle Schmitt,Bruno Leheup,Céline Bonnet,François Feillet,Christine Muti,François Fenaille,Arnaud Bruneel	9
7	SETD1B-associated neurodevelopmental disorder 2020 ·Journal of Medical Genetics ·(unknown),(unknown),Harinder Gill,Margaret L. McKinnon,Bertrand Isidor,Benjamin Cogné,Jill Mwenifumbo,Clara van Karnebeek,Jianghong An,Steven J.M. Jones,Matthew J. Farrer,Michelle Demos,Mary Connolly,William T. Gibson,(unknown)	19
8	Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review 2019 ·Clinical Genetics ·(unknown),Caroline Michot,Geneviève Baujat,(unknown),S. Baron,Yline Capri,Martine Cohen‐Solal,Corinne Collet,Anne Dieux,David Geneviève,Bertrand Isidor,Sophie Monnot,Massimiliano Rossi,Anya Rothenbühler,Élise Schaefer,Valérie Cormier‐Daire	31
9	Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis 2019 ·Journal of Human Genetics ·Anne Molitor,(unknown),Zhichao Miao,(unknown),Agnès Bloch‐Zupan,Angélique Pichot,Antoine Hanauer,Bertrand Isidor,Seiamak Bahram,Raphaël Carapito	11
10	Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders 2019 ·American Journal of Respiratory and Critical Care Medicine ·Marie Vincent,Justyna A. Karolak,Gail Deutsch,Tomasz Gambin,Edwina J. Popek,Bertrand Isidor,Przemysław Szafrański,Cédric Le Caignec,Paweł Stankiewicz	44
11	Duplications at 19q13.33 in patients with neurodevelopmental disorders 2018 ·Neurology Genetics ·Eduardo Pérez‐Palma,Elmo Saarentaus,Marie Ravoet,G. Ferrari,Peter Nürnberg,Bertrand Isidor,Bernd A. Neubauer,Dennis Lal	2
12	New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome 2018 ·European Journal of Human Genetics ·Mathilde Pacault,Marie Vincent,Thomas Besnard,Caroline Kannengiesser,Claire Bénéteau,S. Barbarot,Xénia Latypova,(unknown),Antonin Lamazière,Norbert Winer,Madeleine Joubert,Stéphane Bezieau,Bertrand Isidor,Sandra Mercier,Mathilde Nizon,Stéphanie Leclerc‐Mercier,S. Hadj‐Rabia,Fabienne Dufernez	5
13	PRUNE1‐related disorder: Expanding the clinical spectrum 2018 ·Clinical Genetics ·Eri Imagawa,Yutaka Yamamoto,Satomi Mitsuhashi,Bertrand Isidor,Tetsuhiro Fukuyama,Mitsuhiro Kato,Masayuki Sasaki,Saori Tanabe,Satoko Miyatake,Takeshi Mizuguchi,Atsushi Takata,Noriko Miyake,Naomichi Matsumoto	8
14	Novel SUZ12 mutations in Weaver‐like syndrome 2018 ·Clinical Genetics ·Eri Imagawa,(unknown),Bertrand Isidor,Satomi Mitsuhashi,Takeshi Mizuguchi,Satoko Miyatake,Atsushi Takata,Noriko Miyake,Margaret Cristina da Silva Boguszewski,César Luiz Boguszewski,Antônio Marcondes Lerário,(unknown),Alexander A.L. Jorge,Naomichi Matsumoto	28
15	Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability 2014 ·European Journal of Medical Genetics ·Bertrand Isidor,Albert David	10
16	Coffin–Siris syndrome is a SWI/SNF complex disorder 2013 ·Clinical Genetics ·Yoshinori Tsurusaki,Nobuhiko Okamoto,Hirofumi Ohashi,Seiji Mizuno,Naomichi Matsumoto,(unknown),Yoshio Makita,M. Fukuda,Bertrand Isidor,(unknown),Shagun Aggarwal,Ashwin Dalal,Adila Al‐Kindy,Jan Liebelt,David Mowat,Mitsuko Nakashima,Hirotomo Saitsu,Noriko Miyake,Nobuyuki Matsumoto,(unknown)	103
17	Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity 2012 ·Human Mutation ·Flavia Guillem,Caroline Kannengiesser,Claire Oudin,(unknown),Pavle Matak,Jean Donadieu,Bertrand Isidor,Françoise Méchinaud,Patricia Aguilar‐Martinez,Carole Beaumont,Sophie Vaulont,Bernard Grandchamp,Gaël Nicolas	23
18	Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13 2010 ·The American Journal of Human Genetics ·Bertrand Isidor,Olivier Pichon,Richard Redon,Debra Day‐Salvatore,Antoine Hamel,(unknown),Maria Bitner‐Glindzicz,Dominique Heymann,Lena Kjellén,Cornelia Kraus,Jules G. Leroy,Geert Mortier,Anita Rauch,Alain Verloès,Albert David,Cédric Le Caignec	31
19	A 8.26 Mb deletion in 6q16 and a 4.95 Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff–Parkinson–White syndrome 2008 ·European Journal of Medical Genetics ·Laurianne Le Gloan,Olivier Pichon,Bertrand Isidor,(unknown),Jean‐Marie Rival,Albert David,Cédric Le Caignec	16
20	Blepharophimosis‐mental retardation (BMR) syndromes: A proposed clinical classification of the so‐called Ohdo syndrome, and delineation of two new BMR syndromes, one X‐linked and one autosomal recessive 2006 ·American Journal of Medical Genetics Part A ·Alain Verloès,Dominique Brémond‐Gignac,Bertrand Isidor,Albert David,Clarisse Baumann,M Leroy,René Stevens,Y. Gillerot,Delphine Héron,Bénédicte Héron,Brigitte Benzacken,Didier Lacombe,Han G. Brunner,Pierre Bitoun	52

About Bertrand Isidor

Bertrand Isidor is a scholar working on Genetics, Genetics and Developmental Biology, having authored 112 papers that have together received 2.1k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (22 papers), Genomic variations and chromosomal abnormalities (20 papers) and Genomics and Rare Diseases (14 papers). The work is most often cited by research in Genetics (908 citations), Developmental Biology (43 citations) and Molecular Biology (1.3k citations). Bertrand Isidor has collaborated with scholars based in France, United States and Germany. Frequent co-authors include Cédric Le Caignec, Albert David, Olivier Pichon, Stéphane Bezieau, Valérie Cormier‐Daire, Martine Le Merrer, Dominique Martin‐Coignard, Noriko Miyake, Naomichi Matsumoto and S. Baron. Their work appears in journals such as Nature Genetics, Molecular Cell and Brain.

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.

Explore authors with similar magnitude of impact