Éric Bieth

7.7k citations

126 papers · 6.0k · 1 hit paper · h-index 38

Impact in

Genetics top 1%
- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
Developmental Biology top 5%

Papers in

Genetics 34
- Genetic Syndromes and Imprinting 9
- Genomic variations and chromosomal abnormalities 7
- Genomics and Rare Diseases 6
- Genetics and Neurodevelopmental Disorders 5
Pulmonary and Respiratory Medicine 22
- Cystic Fibrosis Research Advances 21

Co-authors: Jean‐Luc Darlix (3 shared papers)M. Tauber (15 shared papers)Caroline Gabus (1 shared paper)Roger Mieusset (5 shared papers)Catherine Molinas (8 shared papers)Nicolas Chassaing (7 shared papers)Louis Bujan (4 shared papers)Safouane M. Hamdi (2 shared papers)
Journals: Human Mutation (10 papers)Journal of Medical Genetics (10 papers)European Journal of Human Genetics (6 papers)The American Journal of Human Genetics (4 papers)European Journal of Medical Genetics (4 papers)
Partner nations: France United States Italy

In The Last Decade

Éric Bieth

121 papers receiving 5.7k citations

Éric Bieth's Hit Papers

align trajectories log scale

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders 2006 · 1.3k 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.

2006 Nature Genetics

Peers

Countries citing papers authored by Éric Bieth

Since Specialization

Citations

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

Fields of papers citing papers by Éric Bieth

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Éric Bieth, 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 Éric Bieth Line = papers co-authored together Éric Bieth 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 126 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders Nature Genetics ·Christelle Marie Durand, Catalina Betancur, Tobias M. Boeckers, Juergen Bockmann, Pauline Chaste, Fabien Fauchereau, Gudrun Nygren, Maria Råstam Hit paper breakdown →	2006	1287
2	Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase Human Mutation ·Sylvie Tuffery‐Giraud, Christophe Béroud, France Leturcq, Rabah Ben Yaou, Dalil Hamroun, Laurence Michel‐Calemard, Marie‐Pierre Moizard, Rafaëlle Bernard	2009	299
3	Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes Nature Genetics ·Sibel Kantarci, Lihadh Al‐Gazali, R. Sean Hill, Dian Donnai, Graeme Charles M. Black, Éric Bieth, Nicolas Chassaing, Didier Lacombe	2007	267
4	Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis Nature Genetics ·Olivier Gribouval, Marie Gonzalès, Thomas J Neuhaus, Jacqueline Aziza, Éric Bieth, Nicole Laurent, Jean Marie Bouton, François Feuillet	2005	223
5	Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France Human Mutation ·Mireille Claustres, Caroline Guittard, Dominique Bozon, Fran�oise Chevalier, Claudine Verlingue, Claude Férec, Emanuelle Girodon, C�cile Cazeneuve	2000	213
6	Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies Circulation ·Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, Frédéric Anselme, Thomas D Gossios, Neal K. Lakdawala, Caroline Stalens, Frédéric Sacher	2019	203
7	A study of the dimer formation of Rous sarcoma virus RNA and of its effect on viral protein synthesisin vitro Nucleic Acids Research ·Éric Bieth, Caroline Gabus, Jean‐Luc Darlix	1990	161
8	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, F. Conte-Auriol, Catherine Molinas, Dorothée Cailley	2014	138
9	Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study Journal of Medical Genetics ·Christel Thauvin‐Robinet, Mireille Cossée, Valérie Cormier‐Daire, Annick Toutain, Yves Alembik, Éric Bieth, Geert R. Mortier, Delphine Héron	2006	121
10	Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens The American Journal of Human Genetics ·Olivier PATAT, Adrien Pagin, Aurore Siegfried, Valerie A. Mitchell, Nicolas Chassaing, Stanislas Faguer, Laetitia Monteil, Véronique Gaston	2016	117
11	Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling Fertility and Sterility ·Myriam Daudin, Éric Bieth, Louis Bujan, G. Massat, Francis Pontonnier, Roger Mieusset	2000	105
12	The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening Journal of Medical Genetics ·Christel Thauvin‐Robinet, À. Munck, Frédéric Huet, Emmanuelle Génin, Gil Bellis, Élodie Gautier, Marie‐Pierre Audrézet, Claude Férec	2009	104
13	A molecular approach to dominance in hypophosphatasia Human Genetics ·Anne-Sophie Lia-Baldini, Françoise MICHOT MULLER, Agnes Taillandier, J.-F. Gibrat, Marie-Laure Mouchard, Blaise Robin, Brigitte Simon‐Bouy, A. Aylsworth	2001	97
14	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
15	Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome Orphanet Journal of Rare Diseases ·Céline Bar, Gwénaëlle Diene, Catherine Molinas, Éric Bieth, Charlotte Casper, M. Tauber	2017	90
16	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
17	Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families Journal of Medical Genetics ·Marjolaine Willems, David Geneviève, Guntram Borck, Clarisse Baumann, Geneviève Baujat, Éric Bieth, Patrick Edery, Chantal Farra	2009	88
18	Phenotypic Spectrum of Simpson– G olabi– B ehmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature American Journal of Medical Genetics Part C Seminars in Medical Genetics ·Edouard Cottereau, Isabelle Mortemousque, Marie‐Pierre Moizard, Lydie Bürglen, Didier Lacombe, Brigitte Gilbert‐Dussardier, Sabine Sigaudy, Odile Boute	2013	79
19	Genetics of the congenital absence of the vas deferens Human Genetics ·Éric Bieth, Safouane M. Hamdi, Roger Mieusset	2020	78
20	CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rareCFTRvariants Human Mutation ·Mireille Claustres, C. Thèze, Marie Des Georges, David Baux, Emmanuelle Girodon, Thierry Bienvenu, Marie‐Pierre Audrézet, Ingrid Dugueperoux	2017	72

About Éric Bieth

Éric Bieth is a scholar working on Genetics, Pulmonary and Respiratory Medicine, Endocrinology, Diabetes and Metabolism, Cellular and Molecular Neuroscience and Genetics, having authored 126 papers that have together received 6.0k indexed citations. Recurring topics across this work include Cystic Fibrosis Research Advances (21 papers), Genetic Syndromes and Imprinting (9 papers), Genomic variations and chromosomal abnormalities (7 papers), Genomics and Rare Diseases (6 papers), Growth Hormone and Insulin-like Growth Factors (6 papers), Genetics and Neurodevelopmental Disorders (5 papers), Alkaline Phosphatase Research Studies (4 papers) and Hereditary Neurological Disorders (3 papers). The work is most often cited by research in Genetics (1.2k citations), Developmental Biology (47 citations), Pulmonary and Respiratory Medicine (668 citations), Cognitive Neuroscience (396 citations) and Reproductive Medicine (209 citations). Éric Bieth has collaborated with scholars based in France, United States and Italy. Frequent co-authors include Jean‐Luc Darlix, M. Tauber, Caroline Gabus, Roger Mieusset, Catherine Molinas, Nicolas Chassaing, Louis Bujan, Safouane M. Hamdi, Didier Lacombe and Myriam Daudin. Their work appears in journals such as Human Mutation, Journal of Medical Genetics, European Journal of Human Genetics, The American Journal of Human Genetics and European Journal of Medical 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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Éric Bieth

Éric Bieth's Hit Papers

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All Works

About Éric Bieth

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