Thomas Besnard

2.8k citations

69 papers · 2.0k · 1 hit paper · h-index 28

Impact in

Genetics top 5%
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
Sensory Systems top 5%
- Hearing, Cochlea, Tinnitus, Genetics

Papers in

Genetics 30
- Genetics and Neurodevelopmental Disorders 21
- Genomics and Rare Diseases 6
- Genetic and rare skin diseases. 2
- Genomic variations and chromosomal abnormalities 1
Molecular Biology 9
- Retinal Development and Disorders 4
- RNA Research and Splicing 3

Co-authors: David Baux (7 shared papers)Sue Malcolm (7 shared papers)Mireille Claustres (7 shared papers)Lise Larrieu (5 shared papers)Christel Vaché (7 shared papers)Anne‐Françoise Roux (5 shared papers)Catherine Blanchet (5 shared papers)Christian Hamel (5 shared papers)
Journals: The American Journal of Human Genetics (21 papers)Clinical Genetics (6 papers)Genetics in Medicine (6 papers)Human Mutation (5 papers)European Journal of Human Genetics (5 papers)
Partner nations: France United States Germany

In The Last Decade

Thomas Besnard

61 papers receiving 2.0k citations

Thomas Besnard's Hit Papers

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SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation 2023 · 109 citations

What are hit papers?

Paper score: A paper's citations measured against the top-1% bar of its own field and year: the square root of citations ÷ bar, so 1 means right at the bar and 2 means four times its citations. The bar blends the citation counts that enter the top 1% of the paper's subfields in its year (weighted 89.5%), of those subfields over all years (0.5%) and of its year across all fields (10%); a subfield and year with fewer than 400 papers takes its year's bar. Papers from 2026 are not scored yet: in an unfinished year, when a paper appeared matters more than how it is cited.

Hit paper: A paper cited at least 1.5× the top-1% bar of its field and year: a paper score of at least √1.5.

2023 Human Genomics

Peers

Countries citing papers authored by Thomas Besnard

Since Specialization

Citations

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

Fields of papers citing papers by Thomas Besnard

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Thomas Besnard, 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 Thomas Besnard Line = papers co-authored together Thomas Besnard 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 69 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability The American Journal of Human Genetics ·Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, Martina Proietti Onori, Xénia Latypova, Meghan C. Towne, Megan T. Cho, Trine Prescott	2017	140
2	SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation Human Genomics ·Jean‐Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Guéguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi Hit paper breakdown →	2023	109
3	Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy Human Mutation ·Christel Vaché, Thomas Besnard, Pauline Le Berre, Gema García‐García, David Baux, Lise Larrieu, Caroline Abadie, Catherine Blanchet	2011	101
4	Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures The American Journal of Human Genetics ·Slavé Petrovski, Sébastien Küry, Candace T. Myers, Kwame Anyane‐Yeboa, Benjamin Cogné, Martin G. Bialer, Fan Xia, Parisa Hemati	2016	94
5	Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway The American Journal of Human Genetics ·Justyna A. Karolak, Marie Vincent, Gail H. Deutsch, Tomasz Gambin, Benjamin Cogné, Olivier Pichon, Francesco Vetrini, Heather C. Mefford	2019	93
6	De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder The American Journal of Human Genetics ·Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir Naeem Khan, Tomasz Gambin, Jessica Douglas, Carlos A. Bacino, William James Craigen	2017	90
7	Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients Science Advances ·Laura M. Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson, Kevin A. Janssen, Pearl Lee	2020	81
8	Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease Blood ·Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, David Hoogewijs, Alexandre Buffet, Samantha J.L. Knight	2018	76
9	De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder The American Journal of Human Genetics ·Davor Lessel, Claudia Schob, Sébastien Küry, Margot R.F. Reijnders, Tamar Harel, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Jonas Denecke	2017	75
10	Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia The American Journal of Human Genetics ·Claire Guissart, Xénia Latypova, Paul Rollier, Tahir Naeem Khan, Hannah Stamberger, Kirsty M. McWalter, Megan T. Cho, Susanne Kjærgaard	2018	59
11	Non-USH2A mutations in USH2 patients Human Mutation ·Thomas Besnard, Christel Vaché, David Baux, Lise Larrieu, Caroline Abadie, Catherine Blanchet, Sylvie Odent, Patricia Blanchet	2011	56
12	Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features The American Journal of Human Genetics ·Teresa Santiago‐Sim, Lindsay Catherine Burrage, Frédéric Ebstein, Mari Tokita, Marcus J. Miller, Weimin Bi, Alicia A. Braxton, Jill Anne Rosenfeld	2017	55
13	Experience of targeted Usher exome sequencing as a clinical test Molecular Genetics & Genomic Medicine ·Thomas Besnard, Gema García‐García, David Baux, Christel Vaché, Valérie Faugère, Lise Larrieu, Susana Léonard, José María Millán	2013	50
14	Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome Genetics in Medicine ·Thomas Besnard, Natacha Sloboda, Alice Goldenberg, Sébastien Küry, Benjamin Cogné, Flora Bréhéret, Eva Trochu, Solène Conrad	2019	48
15	De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive The American Journal of Human Genetics ·Mari Tokita, Alicia A. Braxton, Yunru Shao, Andrea M. Lewis, Marie Vincent, Sébastien Küry, Thomas Besnard, Bertrand Isidor	2016	47
16	Four-Year Follow-up of Diagnostic Service in USH1 Patients Investigative Ophthalmology & Visual Science ·Anne‐Françoise Roux, Valérie Faugère, Christel Vaché, David Baux, Thomas Besnard, Susana Léonard, Catherine Blanchet, Christian Hamel	2011	46
17	THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder The American Journal of Human Genetics ·Martin Broly, Bogdan V. Polevoda, Kamel M. Awayda, Ning Tong, Jenna M. Lentini, Thomas Besnard, Wallid Deb, Declan O’Rourke	2022	42
18	Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability The American Journal of Human Genetics ·Benjamin Cogné, Sophie Ehresmann, Éliane Beauregard‐Lacroix, Justine Rousseau, Thomas Besnard, Slavé Petrovski, Shiri Avni, Kirsty M. McWalter	2019	41
19	De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment GeneCHAMP1Cause Syndromic Intellectual Disability Human Mutation ·Bertrand Isidor, Sébastien Küry, Jill Anne Rosenfeld, Thomas Besnard, Sébastien Schmitt, Shelagh K. Joss, Sally J Davies, Robert Roger Lebel	2016	40
20	Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features Human Genetics ·Jing Zhang, Tomasz Gambin, Bo Yuan, Przemysław Szafrański, Jill Anne Rosenfeld, Mohammed A. Al Balwi, Abdulrahman Faiz Alswaid, Lihadh Al‐Gazali	2017	39

About Thomas Besnard

Thomas Besnard is a scholar working on Genetics, Molecular Biology, Developmental Neuroscience, Clinical Biochemistry and Pediatrics, Perinatology and Child Health, having authored 69 papers that have together received 2.0k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (21 papers), Genomics and Rare Diseases (6 papers), Retinal Development and Disorders (4 papers), RNA Research and Splicing (3 papers), Genetic and rare skin diseases. (2 papers), Metabolism and Genetic Disorders (1 paper), Genomic variations and chromosomal abnormalities (1 paper) and Skin and Cellular Biology Research (1 paper). The work is most often cited by research in Genetics (454 citations), Sensory Systems (44 citations), Molecular Biology (489 citations), Developmental Neuroscience (15 citations) and Cell Biology (46 citations). Thomas Besnard has collaborated with scholars based in France, United States and Germany. Frequent co-authors include David Baux, Sue Malcolm, Mireille Claustres, Lise Larrieu, Christel Vaché, Anne‐Françoise Roux, Catherine Blanchet, Christian Hamel, Caroline Abadie and Gema García‐García. Their work appears in journals such as The American Journal of Human Genetics, Clinical Genetics, Genetics in Medicine, Human Mutation and European Journal of Human Genetics.

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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Thomas Besnard

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Thomas Besnard

Thomas Besnard's Hit Papers

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All Works

About Thomas Besnard

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