Hélène Dollfus

19.4k total citations
178 papers, 6.7k citations indexed

About

Hélène Dollfus is a scholar working on Molecular Biology, Genetics and Ophthalmology. According to data from OpenAlex, Hélène Dollfus has authored 178 papers receiving a total of 6.7k indexed citations (citations by other indexed papers that have themselves been cited), including 118 papers in Molecular Biology, 104 papers in Genetics and 22 papers in Ophthalmology. Recurrent topics in Hélène Dollfus's work include Genetic and Kidney Cyst Diseases (55 papers), Genetic Syndromes and Imprinting (43 papers) and Hedgehog Signaling Pathway Studies (37 papers). Hélène Dollfus is often cited by papers focused on Genetic and Kidney Cyst Diseases (55 papers), Genetic Syndromes and Imprinting (43 papers) and Hedgehog Signaling Pathway Studies (37 papers). Hélène Dollfus collaborates with scholars based in France, United States and United Kingdom. Hélène Dollfus's co-authors include Corinne Stoetzel, Josseline Kaplan, Vincent Marion, Jean‐Michel Rozet, Jean Muller, S. Gerber, Jean‐Louis Dufier, Véronique Geoffroy, Arnold Münnich and Laurence Faivre and has published in prestigious journals such as Proceedings of the National Academy of Sciences, Nucleic Acids Research and Journal of Biological Chemistry.

In The Last Decade

Hélène Dollfus

170 papers receiving 6.6k citations

Peers

Countries citing papers authored by Hélène Dollfus

Since Specialization

Citations

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

Fields of papers citing papers by Hélène Dollfus

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Hélène Dollfus

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

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Impact of Setmelanotide on Metabolic Syndrome Risk in Patients With Bardet-Biedl Syndrome 2025 ·The Journal of Clinical Endocrinology & Metabolism ·Andrea M. Haqq, Christine Poitou, Wendy K. Chung, Elizabeth Forsythe, Rushika Conroy, Hélène Dollfus, (unknown), (unknown), (unknown), Philip L. Beales, Karine Clément, Jesús Argente	3
2	Quality of life, functioning and participation of children and adolescents with visual impairment: A scoping review 2024 ·Research in Developmental Disabilities ·(unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), Veronica Saletti, (unknown), Agnese Suppiej, Hélène Dollfus, (unknown), Robert P. Finger, Bart P. Leroy, Reda Žemaitienė, Katarzyna Nowomiejska, (unknown)	4
3	Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net 2023 ·Ophthalmic Research ·Birgit Lorenz, (unknown), L. Ingeborgh van den Born, João Pedro Marques, Elisabetta Pilotto, Katarína Štingl, Peter Charbel Issa, Dorothée Leroux, Hélène Dollfus, Hendrik P. N. Scholl, (unknown), (unknown)	4
4	WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects 2023 ·International Journal of Molecular Sciences ·(unknown), (unknown), Alejandro Estrada‐Cuzcano, Véronique Geoffroy, (unknown), (unknown), (unknown), Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise F. Porter, Emmanuelle Génin, Richard Redon, (unknown), Anne Boland, Jean‐François Deleuze, Nicolas Le May, Hélène Dollfus, Jean Muller	5
5	Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey 2023 ·Ophthalmic Research ·Birgit Lorenz, (unknown), L. Ingeborgh van den Born, João Pedro Marques, Elisabetta Pilotto, Katarína Štingl, Peter Charbel Issa, Dorothée Leroux, Hélène Dollfus, Hendrik P. N. Scholl	3
6	Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy 2023 ·Human Mutation ·(unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), Christine Francannet, Boris Keren, Jonathan Lévy, (unknown), (unknown), Jeanne Amiel, Hélène Dollfus, Sophie Scheidecker, Jean Muller	0
7	Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants 2022 ·International Journal of Molecular Sciences ·(unknown), (unknown), Veronika Vaclavik, Isabelle Meunier, Isabelle Drumare, Valérie Pelletier, Béatrice Bocquet, Margarita G. Todorova, Anne‐Gaëlle Le Moing, Aurore Devos, Daniel F. Schorderet, (unknown), Sabine Defoort‐Dhellemmes, Hélène Dollfus, (unknown), Claire‐Marie Dhaenens	9
8	Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy 2021 ·International Journal of Molecular Sciences ·(unknown), (unknown), Jean Muller, Christina Zeitz, Carolin D. Obermaier, Aurore Devos, Valérie Pelletier, Béatrice Bocquet, Camille Andrieu, (unknown), (unknown), Saddek Mohand‐Saïd, Sabine Defoort‐Dhellemmes, José‐Alain Sahel, Hélène Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Élise Boulanger-Scemama, Claire‐Marie Dhaenens	10
9	AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis 2021 ·Nucleic Acids Research ·Véronique Geoffroy, Thomas Guignard, Arnaud Kress, (unknown), (unknown), (unknown), Vincent Gâtinois, Hélène Dollfus, Sophie Scheidecker, Jean Muller	34
10	High prevalence of Bardet‐Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3 2020 ·Clinical Genetics ·(unknown), (unknown), Marie‐Line Jacquemont, Françoise Darcel, (unknown), (unknown), (unknown), Jean‐Luc Alessandri, Bérénice Doray, Paul Guéguen, (unknown), Hanitra Randrianaivo, Corinne Stoetzel, Sophie Scheidecker, Hugues Flodrops, Hélène Dollfus, Jean Muller	11
11	Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy 2020 ·Nature Genetics ·Maria Kousi, Onuralp Söylemez, (unknown), Niki Mourtzi, Sebastian Akle, Irwin Jungreis, Jean Muller, Christopher A. Cassa, Harrison Brand, Jill A. Rosenfeld, Maxim Y. Wolf, Azita Sadeghpour, (unknown), Richard A. Lewis, Michael E. Talkowski, Hélène Dollfus, Manolis Kellis, Erica E. Davis, Shamil Sunyaev, Nicholas Katsanis	21
12	Reproduction Function in Male Patients With Bardet Biedl Syndrome 2020 ·The Journal of Clinical Endocrinology & Metabolism ·Isabelle Koscinski, Manuel Mark, Nadia Messaddeq, Jean Braun, Catherine Célébi, Jean Muller, (unknown), (unknown), Hélène Dollfus, Sylvie Rossignol	14
13	Mutations inKARScause a severe neurological and neurosensory disease with optic neuropathy 2019 ·Human Mutation ·Sophie Scheidecker, Séverine Bär, Corinne Stoetzel, Véronique Geoffroy, Béatrice Lannes, Bruno Rinaldi, Frédéric Fischer, H. D. Becker, Valérie Pelletier, Cécile Pagan, Cécile Acquaviva, Stéphane Kremer, Marc Mirande, Christine Tranchant, Jean Muller, Sylvie Friant, Hélène Dollfus	15
14	In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies 2019 ·Experimental Eye Research ·(unknown), (unknown), Cathy Obringer, (unknown), (unknown), Corinne Stoetzel, Michel J. Roux, Nadia Messaddeq, Hélène Dollfus, Vincent Marion	7
15	NovelIQCEvariations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish 2019 ·Human Mutation ·Alejandro Estrada‐Cuzcano, Christelle Etard, (unknown), Corinne Stoetzel, Élise Schaefer, Sophie Scheidecker, Véronique Geoffroy, (unknown), (unknown), Francesca Mattioli, Kirsley Chennen, Sabine Sigaudy, Damien Plassard, Olivier Poch, Amélie Piton, Uwe Strähle, Jean Muller, Hélène Dollfus	5
16	Implication of non-coding PAX6 mutations in aniridia 2018 ·Human Genetics ·Julie Plaisancié, (unknown), Patrícia Locosque Ramos, (unknown), Véronique Gaston, Hélène Dollfus, (unknown), J.‐C. Kaplan, Lucas Fares‐Taie, Fiona Blanco‐Kelly, Cristina Villaverde, Christine Francannet, Alice Goldenberg, Ignacio Arroyo, Jean‐Michel Rozet, Carmen Ayuso, Nicolas Chassaing, Patrick Calvas, Marta Cortón	34
17	AnnotSV: an integrated tool for structural variations annotation 2018 ·Bioinformatics ·Véronique Geoffroy, Yvan Herenger, Arnaud Kress, Corinne Stoetzel, Amélie Piton, Hélène Dollfus, Jean Muller	207
18	FOXE3 mutations: genotype‐phenotype correlations 2017 ·Clinical Genetics ·Julie Plaisancié, Nicola Ragge, Hélène Dollfus, J.‐C. Kaplan, Daphné Lehalle, Christine Francannet, G Morin, Hélène Colineaux, Patrick Calvas, Nicolas Chassaing	26
19	Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome 2015 ·American Journal of Ophthalmology ·Sophie Scheidecker, Sarah Hull, (unknown), (unknown), Valérie Pelletier, Jean Muller, Corinne Stoetzel, Élise Schaefer, Sabine Defoort‐Dhellemmes, Isabelle Drumare, Graham E. Holder, Christian P. Hamel, Andrew R. Webster, Anthony T. Moore, Bernard Puech, Hélène Dollfus	19
20	Jalili Syndrome - Cone-Rod Dystrophy (CRD) and Amelogenesis Imperfecta (AI); Six Families and Consistent Linkage to 2q11 2008 ·Investigative Ophthalmology & Visual Science ·C.F. Inglehearn, Walid El‐Sayed, Richard F. Shore, (unknown), Hélène Dollfus, Román Carlos, (unknown), David Mansfield, A. T. Moore, Alan J. Mighell	1

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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