B. Estournet

5.6k citations

74 papers · 3.3k · h-index 28

Impact in

Genetics top 1%
- Neurogenetic and Muscular Disorders Research
Cardiology and Cardiovascular Medicine top 2%
- Cardiomyopathy and Myosin Studies

Papers in

Molecular Biology 33
- Muscle Physiology and Disorders 24
- Nuclear Structure and Function 8
- RNA Research and Splicing 5
Genetics 23
- Neurogenetic and Muscular Disorders Research 22

Co-authors: Pascale Guicheney (21 shared papers)Norma B. Romero (18 shared papers)A Barois (24 shared papers)Martin Brockington (3 shared papers)Thomas Voit (4 shared papers)Susana Quijano‐Roy (10 shared papers)Ana Ferreiro (12 shared papers)Francesco Muntoni (4 shared papers)
Journals: Neuromuscular Disorders (18 papers)Annals of Neurology (6 papers)Muscle & Nerve (3 papers)The American Journal of Human Genetics (2 papers)Handbook of clinical neurology (2 papers)
Partner nations: France Italy United Kingdom

In The Last Decade

B. Estournet

68 papers receiving 3.1k citations

Peers

Countries citing papers authored by B. Estournet

Since Specialization

Citations

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

Fields of papers citing papers by B. Estournet

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside B. Estournet, 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 B. Estournet Line = papers co-authored together B. Estournet 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 74 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan The American Journal of Human Genetics ·Martin Brockington, Derek J. Blake, Paola Prandini, S. Brown, Silvia Torelli, Matthew A. Benson, Chris P. Ponting, B. Estournet, Norma B. Romero, Eugenio Mercuri, Thomas Voit, Caroline A. Sewry, Pascale Guicheney, Francesco Muntoni	2001	492
2	Congenital muscular dystrophy with merosin deficiency. PubMed ·F.M.S. Tomé, Teresinha Evangelista, A. Leclerc, Y. Sunada, Emilia Manole, B. Estournet, A Barois, Kevin P. Campbell, M Fardeau	1994	373
3	Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome Nature Genetics ·Behzad Moghadaszadeh, Nathalie Petit, Céline Jaillard, Martin Brockington, Susana Quijano Roy, Luciano Merlini, Norma B. Romero, B. Estournet, Isabelle Desguerre, Denys Chaigne, Francesco Muntoni, Haluk Topaloğlu, Pascale Guicheney	2001	271
4	Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies The American Journal of Human Genetics ·Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau, Behzad Moghadaszadeh, Nathalie Goemans, Carsten G. Bönnemann, Heinz Jungbluth, Volker Straub, Marcello Villanova, Jean‐Paul Leroy, Norma B. Romero, Jean‐Jacques Martin, Francesco Muntoni, Thomas Voit, B. Estournet, Pascale Richard, Michel Fardeau, Pascale Guicheney	2002	269
5	Phenotypic spectrum associated with mutations in the fukutin‐related protein gene Annals of Neurology ·Eugenio Mercuri, Martin Brockington, Volker Straub, Susana Quijano‐Roy, Yeliz Yuva, Ralf Herrmann, S. Brown, Silvia Torelli, Victor Dubowitz, Derek J. Blake, Norma B. Romero, B. Estournet, Caroline A. Sewry, Pascale Guicheney, Thomas Voit, Francesco Muntoni	2003	188
6	C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy Annals of Neurology ·Virginie Carmignac, Mustafa A. Salih, Susana Quijano‐Roy, Sylvie Marchand, Molham M. Al Rayess, Maowia M. Mukhtar, Jon Andoni Urtizberea, Siegfried Labeit, Pascale Guicheney, France Leturcq, Mathias Gautel, Michel Fardeau, Kevin P. Campbell, Isabelle Richard, B. Estournet, Ana Ferreiro	2007	175
7	SEPN1: Associated with congenital fiber‐type disproportion and insulin resistance Annals of Neurology ·Nigel F. Clarke, Warren Kidson, Susana Quijano‐Roy, B. Estournet, Ana Ferreiro, Pascale Guicheney, James Manson, Andrew J. Kornberg, Lloyd K. Shield, Kathryn N. North	2006	133
8	Long‐term noninvasive mechanical ventilation for children at home: A national survey Pediatric Pulmonology ·Brigitte Fauroux, C. Boffa, Isabelle Desguerre, B. Estournet, Ha Trang	2003	102
9	Multi-minicore disease-searching for boundaries: Phenotype analysis of 38 cases Annals of Neurology ·Ana Ferreiro, B. Estournet, Danielle Château, Norma B. Romero, C Laroche, Sylvie Odent, Annick Toutain, Ana Cabello, D Fontan, Helo�sa G. Dos Santos, Charles-Antoine Haenggeli, Enrico Bertini, Jon-Andoni Urtizberea, Pascale Guicheney, Michel Fardeau	2000	94
10	Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores Human Mutation ·Nicole Monnier, Isabelle Marty, Julien Fauré, Claudia Castiglioni, Claude Desnuelle, Sabrina Sacconi, B. Estournet, Ana Ferreiro, Norma B. Romero, Annie Laquerrière, Leïla Lazaro, Jean‐Jacques Martin, Éva Morava, Annick Rossi, Anneke J. van der Kooi, Marianne de Visser, Corien Verschuuren, Joël Lunardi	2008	82
11	New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families Neurogenetics ·Chahnez Triki, Susana Quijano‐Roy, Pascale Richard, S. Makri, Norma B. Romero, Pascale Guicheney, Faiza Fakhfakh, Nacim Louhichi, (unknown), B. Estournet, Hammadi Ayadi, Slah Mrad	2004	68
12	The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis Human Molecular Genetics ·(unknown), Susana Quijano-Roy, Nicole Monnier, Jie Zhou, Julien Fauré, Daniela Avila‐Smirnow, Robert Carlier, Cécile Laroche, Pascale Marcorelles, Sandra Mercier, André Mégarbané, Sylvie Odent, Norma B. Romero, Damien Sternberg, Isabelle Marty, B. Estournet, Pierre‐Simon Jouk, Judith Melki, Joël Lunardi	2012	54
13	Spinal penetration index: new three-dimensional quantified reference for lordoscoliosis and other spinal deformities Journal of Orthopaedic Science ·Jean Dubousset, P. Wicart, Vincent Pomero, A Barois, B. Estournet	2003	50
14	PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. Journal of Medical Genetics ·Pascale Guicheney, Nicolas Vignier, X Zhang, Yi He, Corinne Cruaud, R. Frey, A. Leclerc, Pascale Richard, B. Estournet, Luciano Merlini, Haluk Topaloğlu, Marina Mora, J P Harpey, C A Haenggeli, A Barois, Bernard Hainque, K. Schwartz, F.M.S. Tomé, Michel Fardeau, Karl Tryggvason	1998	49
15	EMG and nerve conduction studies in children with congenital muscular dystrophy Muscle & Nerve ·Susana Quijano‐Roy, Francis Renault, Norma B. Romero, Pascale Guicheney, Michel Fardeau, B. Estournet	2004	47
16	Congenital myasthenic syndromes Handbook of clinical neurology ·B. Eymard, Daniel Hantaı̈, B. Estournet	2013	45
17	Whole‐body muscle magnetic resonance imaging in SEPN1‐related myopathy shows a homogeneous and recognizable pattern Muscle & Nerve ·Karolina Hankiewicz, Robert Carlier, Leïla Lazaro, Javier Linzoain, Christine Barnérias, David Gómez‐Andrés, Daniela Avila‐Smirnow, Ana Ferreiro, B. Estournet, Pascale Guicheney, Dominique P. Germain, Pascale Richard, Sebastián Bulacio, D. Mompoint, Susana Quijano‐Roy	2015	42
18	Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13 Annals of Neurology ·Louis Viollet, A Barois, Jean G. Rebeiz, Ziad Rifai, Philippe Burlet, Mohammed Zarhrate, Elodie Vial, Michel Dessainte, B. Estournet, Bernard Kleinknecht, John Pearn, Raymond D. Adams, Jon Andoni Urtizberea, Didier Cros, Kate Bushby, Arnold Münnich, Suzie Lefebvre	2002	40
19	Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation European Journal of Human Genetics ·Rabah Ben Yaou, Claire Navarro, Susana Quijano-Roy, A. Bertrand, Catherine Massart, Annachiara De Sandre‐Giovannoli, Juan Cadiñanos, Kamel Mamchaoui, Gillian Butler‐Browne, B. Estournet, Pascale Richard, A Barois, Nicolas Lévy, Gisèle Bonne	2011	40
20	Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations Neuromuscular Disorders ·Mohamed Jarraya, Susana Quijano-Roy, Nicole Monnier, Anthony Béhin, Daniela Avila‐Smirnow, Norma B. Romero, Valérie Allamand, Pascale Richard, A Barois, Adrien May, B. Estournet, Eugenio Mercuri, Pierre G. Carlier, Robert‐Yves Carlier	2012	37

About B. Estournet

B. Estournet is a scholar working on Molecular Biology, Genetics, Cardiology and Cardiovascular Medicine, Surgery and Neurology, having authored 74 papers that have together received 3.3k indexed citations. Recurring topics across this work include Muscle Physiology and Disorders (24 papers), Neurogenetic and Muscular Disorders Research (22 papers), Cardiomyopathy and Myosin Studies (12 papers), Nuclear Structure and Function (8 papers), Myasthenia Gravis and Thymoma (7 papers), RNA Research and Splicing (5 papers), Neonatal Respiratory Health Research (5 papers) and Respiratory Support and Mechanisms (4 papers). The work is most often cited by research in Genetics (628 citations), Cardiology and Cardiovascular Medicine (705 citations), Molecular Biology (2.2k citations), Immunology and Allergy (143 citations) and Cellular and Molecular Neuroscience (462 citations). B. Estournet has collaborated with scholars based in France, Italy and United Kingdom. Frequent co-authors include Pascale Guicheney, Norma B. Romero, A Barois, Martin Brockington, Thomas Voit, Susana Quijano‐Roy, Ana Ferreiro, Francesco Muntoni, Kevin P. Campbell and Eugenio Mercuri. Their work appears in journals such as Neuromuscular Disorders, Annals of Neurology, Muscle & Nerve, The American Journal of Human Genetics and Handbook of clinical neurology.

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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B. Estournet

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