Frédéric Bilan

2.0k citations

25 papers · 355 indexed · h-index 11

Impact in

Genetics top 10%
- Congenital Ear and Nasal Anomalies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Pulmonary and Respiratory Medicine
- Cystic Fibrosis Research Advances
- Tracheal and airway disorders
- Neonatal Respiratory Health Research

Papers in ⓘ

Genetics 10
- Congenital Ear and Nasal Anomalies 7
- Genomic variations and chromosomal abnormalities 5
- Genetics and Neurodevelopmental Disorders 4
Developmental Biology 1

Co-authors: Alain Kitzis (14 shared papers)Caroline Norez (5 shared papers)Frédéric Becq (5 shared papers)Vincent Thoreau (5 shared papers)Brigitte Gilbert‐Dussardier (11 shared papers)Patricia Melin (3 shared papers)Martine Garcia (1 shared paper)Marine Legendre (4 shared papers)
Journals: Journal of Molecular Diagnostics (4 papers)Journal of Pharmacology and Experimental Therapeutics (1 paper)Orphanet Journal of Rare Diseases (1 paper)European Journal of Human Genetics (1 paper)Disease Models & Mechanisms (1 paper)
Partner nations: France United States Canada

In The Last Decade

Frédéric Bilan

24 papers receiving 346 citations

Peers

Countries citing papers authored by Frédéric Bilan

Since Specialization

Citations

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

Fields of papers citing papers by Frédéric Bilan

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

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

#	Work
1	Syntaxin 8 impairs trafficking of cystic fibrosis transmembrane conductance regulator (CFTR) and inhibits its channel activity Journal of Cell Science ·Frédéric Bilan, Vincent Thoreau, Magali Nacfer, Renaud Dérand, Caroline Norez, Anne Cantereau, Martine Garcia, Frédéric Becq, Alain Kitzis	2004	48
2	Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD) American Journal of Medical Genetics Part A ·Capucine Hyon, Sandra Chantot‐Bastaraud, Radu Harbuz, Rakia Bhouri, Nicolas Perrot, Matthieu Peycelon, Mathilde Sibony, Sandra Rojo, X. Piguel, Frédéric Bilan, Brigitte Gilbert‐Dussardier, Alain Kitzis, Ken McElreavey, Jean‐Pierre Siffroi, Anu Bashamboo	2015	44
3	Structural Pituitary Abnormalities Associated With CHARGE Syndrome The Journal of Clinical Endocrinology & Metabolism ·Louise Gregory, Evelien Gevers, J. Scott Baker, Tessa Kasia, Kling Chong, Dragana Josifova, María Caimari, Frédéric Bilan, Mark J. McCabe, Mehul Dattani	2013	35
4	The cystic fibrosis mutation G1349D within the signature motif LSHGH of NBD2 abolishes the activation of CFTR chloride channels by genistein Biochemical Pharmacology ·Patricia Melin, Vincent Thoreau, Caroline Norez, Frédéric Bilan, Alain Kitzis, Frédéric Becq	2004	33
5	Characterization of the Different BCR-ABL Transcripts with a Single Multiplex RT-PCR Journal of Molecular Diagnostics ·Jacques Chasseriau, Jéröme Rivet, Frédéric Bilan, Jean‐Claude Chomel, François Guilhot, Nicolas Bourmeyster, Alain Kitzis	2004	30
6	Endosomal SNARE proteins regulate CFTR activity and trafficking in epithelial cells Experimental Cell Research ·Frédéric Bilan, Magali Nacfer, Fleur Fresquet, Caroline Norez, Patricia Melin, Alice Martin-Berge, Marie-Alyette Costa de Beauregard, Frédéric Becq, Alain Kitzis, Vincent Thoreau	2008	25
7	Proteasome-Dependent Pharmacological Rescue of Cystic Fibrosis Transmembrane Conductance Regulator Revealed by Mutation of Glycine 622 Journal of Pharmacology and Experimental Therapeutics ·Caroline Norez, Frédéric Bilan, Alain Kitzis, Yvette Mettey, Frédéric Becq	2008	22
8	Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome Prenatal Diagnosis ·Tiffany Busa, Marine Legendre, Marie Bauge, E. Quarello, Florence Bretelle, Frédéric Bilan, Sabine Sigaudy, Brigitte Gilbert‐Dussardier, Nicole Philip	2016	18
9	Complete Screening of 50 Patients with CHARGE Syndrome for Anomalies in the CHD7 Gene Using a Denaturing High-Performance Liquid Chromatography–Based Protocol Journal of Molecular Diagnostics ·Frédéric Bilan, Marine Legendre, Valérie Charraud, Barbara Manière, D Couet, Brigitte Gilbert‐Dussardier, Alain Kitzis	2011	15
10	De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission Annals of Neurology ·Konrad Platzer, Heinrich Sticht, Caleb Bupp, Mythily Ganapathi, Elaine M. Pereira, Gwenaël Le Guyader, Frédéric Bilan, Lindsay B. Henderson, Johannes R. Lemke, Holger Taschenberger, Nils Brose, Rami Abou Jamra, Sonja M. Wojcik	2022	12
11	Osteogenesis imperfecta, tricho‐dento‐osseous syndrome and intellectual disability: A familial case with 17q21.33‐q22 (COL1A1 and DLX3) deletion and 7q32.3‐q33 duplication resulting from a reciprocal interchromosomal insertion American Journal of Medical Genetics Part A ·Radu Harbuz, Frédéric Bilan, D Couet, Valérie Charraud, Alain Kitzis, Brigitte Gilbert‐Dussardier	2013	12
12	Influence of the Duplication of CFTR Exon 9 and Its Flanking Sequences on Diagnosis of Cystic Fibrosis Mutations Journal of Molecular Diagnostics ·Ayman El-Seedy, Tony Dudognon, Frédéric Bilan, Marie-Claude Pasquet, Marie‐Pierre Reboul, A. Iron, Alain Kitzis, Véronique Ladevèze	2009	9
13	A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma Neuro-Oncology ·Ilyess Zemmoura, Patrick Vourc’h, Agathe Paubel, Béatrice Parfait, Joëlle Cohen, Frédéric Bilan, Alain Kitzis, C. Rousselot, Fabrice Parker, Patrick François, Christian Andrés	2013	8
14	1q21.1 microduplication: large verbal–nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number npj Genomic Medicine ·Jean Xavier, Bo Zhou, Frédéric Bilan, Xianglong Zhang, Brigitte Gilbert‐Dussardier, Sylvie Viaux‐Savelon, Reenal Pattni, Steve S. Ho, David Cohen, Douglas F. Levinson, Alexander E. Urban, Claudine Laurent‐Levinson	2018	7
15	A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients European Journal of Human Genetics ·Gara Samara Brajadenta, Frédéric Bilan, Brigitte Gilbert‐Dussardier, Alain Kitzis, Vincent Thoreau	2019	6
16	Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients Orphanet Journal of Rare Diseases ·Véronique Abadie, Priscilla Hamiaux, Stéphanie Ragot, Marine Legendre, Gaëlle Malécot, Alexia Burtin, Tania Attié‐Bitach, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert‐Dussardier, Laurence Vaivre‐Douret	2020	6
17	AGAP1-associated endolysosomal trafficking abnormalities link gene–environment interactions in neurodevelopmental disorders Disease Models & Mechanisms ·Sara A. Lewis, Somayeh Bakhtiari, Jacob Forstrom, Allan Bayat, Frédéric Bilan, Gwenaël Le Guyader, Ebba Alkhunaizi, Hilary J. Vernon, Sergio Padilla‐Lopez, Michael C. Kruer	2023	5
18	12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A American Journal of Medical Genetics Part A ·Tanguy Niclass, Gwenaël Le Guyader, Claire Bénéteau, Madeleine Joubert, Antonio Pizzuti, Maria Grazia Giuffrida, Laura Bernardini, Brigitte Gilbert‐Dussardier, Frédéric Bilan, Matthieu Egloff	2020	5
19	Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome Molecular Psychiatry ·Jérémie Courraud, Camille Engel, Angélique Quartier, Nathalie Drouot, Ursula Houessou, Damien Plassard, Arthur Sorlin, Elise Brischoux‐Boucher, Evan Gouy, Lionel Van Maldergem, Massimiliano Rossi, Gaëtan Lesca, Patrick Edery, Audrey Putoux, Frédéric Bilan, Brigitte Gilbert‐Dussardier, Isis Atallah, Vera M. Kalscheuer, Jean‐Louis Mandel, Amélie Piton	2023	4
20	Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene Fertility and Sterility ·Florence Brugnon, Frédéric Bilan, M Héraud, G. Grizard, L. Janny, Isabelle Creveaux	2008	3

About Frédéric Bilan

Frédéric Bilan is a scholar working on Genetics, Developmental Biology, Pulmonary and Respiratory Medicine, Genetics and Cell Biology, having authored 25 papers that have together received 355 indexed citations. Recurring topics across this work include Cystic Fibrosis Research Advances (7 papers), Tracheal and airway disorders (7 papers), Congenital Ear and Nasal Anomalies (7 papers), Genomic variations and chromosomal abnormalities (5 papers), Genetics and Neurodevelopmental Disorders (4 papers), Congenital heart defects research (3 papers), Cellular transport and secretion (3 papers) and Head and Neck Surgical Oncology (2 papers). The work is most often cited by research in Genetics (94 citations), Genetics (111 citations), Pulmonary and Respiratory Medicine (123 citations), Hematology (30 citations) and Cell Biology (41 citations). Frédéric Bilan has collaborated with scholars based in France, United States and Canada. Frequent co-authors include Alain Kitzis, Caroline Norez, Frédéric Becq, Vincent Thoreau, Brigitte Gilbert‐Dussardier, Patricia Melin, Martine Garcia, Marine Legendre, Anne Cantereau and Radu Harbuz. Their work appears in journals such as Journal of Molecular Diagnostics, Journal of Pharmacology and Experimental Therapeutics, Orphanet Journal of Rare Diseases, European Journal of Human Genetics and Disease Models & Mechanisms.

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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