Bertrand Isidor

17.0k citations

112 papers · 2.1k indexed · h-index 26

Genetics top 2%
- Genetics and Neurodevelopmental Disorders 22
- Genomic variations and chromosomal abnormalities 20
- Genomics and Rare Diseases 14
- Connective tissue disorders research 10
- Congenital Ear and Nasal Anomalies 8
Developmental Biology top 5%
Molecular Biology top 5%
- Congenital heart defects research 8
- Epigenetics and DNA Methylation 7
- Ubiquitin and proteasome pathways 6
Genetics top 10%
- Genetics and Neurodevelopmental Disorders 22
- Genomic variations and chromosomal abnormalities 20
- Genomics and Rare Diseases 14
- Connective tissue disorders research 10
- Congenital Ear and Nasal Anomalies 8
Cell Biology top 10%

Co-authors: Cédric Le Caignec Albert David Olivier Pichon Stéphane Bezieau Valérie Cormier‐Daire Martine Le Merrer Dominique Martin‐Coignard Noriko Miyake
Cited by: Genetics Developmental Biology Molecular Biology
Journals: Nature Genetics (2 papers)Molecular Cell (1 paper)Brain (1 paper)
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

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

All Works

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

20 of 20 papers shown

#	Work
1	Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access Program Hormone Research in Paediatrics ·Valérie Cormier‐Daire,Thomas Édouard,Bertrand Isidor,Swati Mukherjee,Jeanne M. Pimenta,Massimiliano Rossi,Élise Schaefer,Sabine Sigaudy,Geneviève Baujat	2025	2
2	Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene Neurology Clinical Practice ·Pierre‐Louis Lanvin,Dong Li,Solène Conrad,Armelle Magot,Xavier Micaelli,Yann Péréon,Marie Vincent,Bertrand Isidor,Damien Sternberg,Elizabeth M. McCormick,Håkon Håkonarson,Sandra Mercier,Marni J. Falk	2024	1
3	The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders Frontiers in Neuroscience ·Katrine M. Johannesen,Jimmi Nielsen,Anne Sabers,Bertrand Isidor,Anja A. Kattentidt‐Mouravieva,Dominik Zieglgänsberger,Alexis R. Heidlebaugh,Kathryn F. Oetjens,Anna Vidal,Jakob Christensen,Jacob Tiller,Amber Freed,Rikke S. Møller,Guido Rubboli	2023	4
4	Expanding the phenotype of HNRNPU‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature American Journal of Medical Genetics Part A ·James R. Taylor,Michael Spiller,Kara Ranguin,Antonio Vitobello,Christophe Philippe,Ange‐Line Bruel,Gerarda Cappuccio,Nicola Brunetti‐Pierri,Marjolaine Willems,Bertrand Isidor,Kristen Park,Meena Balasubramanian	2022	12
5	Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder Clinical Genetics ·Jonathan Lévy,Guillaume Cogan,Anna Maruani,Arnaud Maillard,Céline Dupont,Séverine Drunat,Myriam Rachid,Paola Atzori,Richard Delorme,Sabatini Jeyarajah,Bertrand Isidor,Olivier Pichon,Kamran Moradkhani,Alain Verloès,Anne‐Claude Tabet	2021	8
6	MAN1B1-CDG: Three new individuals and associated biochemical profiles Molecular Genetics and Metabolism Reports ·Soraya Sakhi,Sophie Cholet,Samer Wehbi,Bertrand Isidor,Benjamin Cogné,Sandrine Vuillaumier‐Barrot,Thierry Dupré,Trost Detleft,Emmanuelle Schmitt,Bruno Leheup,Céline Bonnet,François Feillet,Christine Muti,François Fenaille,Arnaud Bruneel	2021	9
7	SETD1B-associated neurodevelopmental disorder Journal of Medical Genetics ·Alexandra Roston,Dan Evans,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)	2020	19
8	Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review Clinical Genetics ·Varoona Bizaoui,Caroline Michot,Geneviève Baujat,Cyril Amouroux,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	2019	31
9	Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis Journal of Human Genetics ·Anne Molitor,Tony Prud’homme,Zhichao Miao,Solène Conrad,Agnès Bloch‐Zupan,Angélique Pichot,Antoine Hanauer,Bertrand Isidor,Seiamak Bahram,Raphaël Carapito	2019	11
10	Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders 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	2019	44
11	Duplications at 19q13.33 in patients with neurodevelopmental disorders Neurology Genetics ·Eduardo Pérez‐Palma,Elmo Saarentaus,Marie Ravoet,G. Ferrari,Peter Nürnberg,Bertrand Isidor,Bernd A. Neubauer,Dennis Lal	2018	2
12	New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome European Journal of Human Genetics ·Mathilde Pacault,Marie Vincent,Thomas Besnard,Caroline Kannengiesser,Claire Bénéteau,S. Barbarot,Xénia Latypova,Khaldia Belabbas,Antonin Lamazière,Norbert Winer,Madeleine Joubert,Stéphane Bezieau,Bertrand Isidor,Sandra Mercier,Mathilde Nizon,Stéphanie Leclerc‐Mercier,S. Hadj‐Rabia,Fabienne Dufernez	2018	5
13	PRUNE1‐related disorder: Expanding the clinical spectrum 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	2018	8
14	Novel SUZ12 mutations in Weaver‐like syndrome Clinical Genetics ·Eri Imagawa,Edoarda Vasco de Albuquerque Albuquerque,Bertrand Isidor,Satomi Mitsuhashi,Takeshi Mizuguchi,Satoko Miyatake,Atsushi Takata,Noriko Miyake,Margaret Cristina da Silva Boguszewski,César Luiz Boguszewski,Antônio Marcondes Lerário,Mariana A. Funari,Alexander A.L. Jorge,Naomichi Matsumoto	2018	28
15	Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability European Journal of Medical Genetics ·Bertrand Isidor,Albert David	2014	10
16	Coffin–Siris syndrome is a SWI/SNF complex disorder Clinical Genetics ·Yoshinori Tsurusaki,Nobuhiko Okamoto,Hirofumi Ohashi,Seiji Mizuno,Naomichi Matsumoto,(unknown),Yoshio Makita,M. Fukuda,Bertrand Isidor,J. Perrier,Shagun Aggarwal,Ashwin Dalal,Adila Al‐Kindy,Jan Liebelt,David Mowat,Mitsuko Nakashima,Hirotomo Saitsu,Noriko Miyake,Nobuyuki Matsumoto,(unknown)	2013	103
17	Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity Human Mutation ·Flavia Guillem,Caroline Kannengiesser,Claire Oudin,Anne Lenoir,Pavle Matak,Jean Donadieu,Bertrand Isidor,Françoise Méchinaud,Patricia Aguilar‐Martinez,Carole Beaumont,Sophie Vaulont,Bernard Grandchamp,Gaël Nicolas	2012	23
18	Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13 The American Journal of Human Genetics ·Bertrand Isidor,Olivier Pichon,Richard Redon,Debra Day‐Salvatore,Antoine Hamel,Karolina Siwicka,Maria Bitner‐Glindzicz,Dominique Heymann,Lena Kjellén,Cornelia Kraus,Jules G. Leroy,Geert Mortier,Anita Rauch,Alain Verloès,Albert David,Cédric Le Caignec	2010	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 European Journal of Medical Genetics ·Laurianne Le Gloan,Olivier Pichon,Bertrand Isidor,M. Boceno,Jean‐Marie Rival,Albert David,Cédric Le Caignec	2008	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 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	2006	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), Genomics and Rare Diseases (14 papers), Connective tissue disorders research (10 papers), Congenital Ear and Nasal Anomalies (8 papers), Congenital heart defects research (8 papers), Epigenetics and DNA Methylation (7 papers) and Ubiquitin and proteasome pathways (6 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