Jean‐Pierre Desvignes

2.1k citations

31 papers · 1.0k indexed · h-index 17

Genetics top 10%
- Genomics and Rare Diseases 7
Genetics top 10%
- Genomics and Rare Diseases 7
Molecular Biology
- Genomics and Phylogenetic Studies 4
- RNA and protein synthesis mechanisms 4
- Congenital heart defects research 3
- RNA modifications and cancer 3
- RNA Research and Splicing 3
Reproductive Medicine top 10%
Cell Biology
Cancer Research
- Cancer Genomics and Diagnostics 3
Physiology
- Erythrocyte Function and Pathophysiology 2

Co-authors: Christophe Béroud David Salgado Nicolas Lévy Valérie Delague Marc Bartoli Martin Krahn Gwenaëlle Collod‐Béroud Amélie Pinard
Cited by: Genetics Molecular Biology
Partner nations: France Lebanon Tunisia

In The Last Decade

Jean‐Pierre Desvignes

31 papers receiving 1.0k citations

Peers

Countries citing papers authored by Jean‐Pierre Desvignes

Since Specialization

Citations

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

Fields of papers citing papers by Jean‐Pierre Desvignes

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Jean‐Pierre Desvignes. 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 Jean‐Pierre Desvignes. The network helps show where Jean‐Pierre Desvignes may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Jean‐Pierre Desvignes, 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 Jean‐Pierre Desvignes Line = papers co-authored together Jean‐Pierre Desvignes links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Protein domains provide a new layer of information for classifying human variations in rare diseases Mélanie Corcuff,Marc Garibal,Jean‐Pierre Desvignes,C Guien,Coralie Grattepanche,Gwenaëlle Collod‐Béroud,Estelle Ménoret,David Salgado,Christophe Béroud	2023	3
2	Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome André Mégarbané,Sayeeda Hana,Hala Mégarbané,Christel Castro,Sylvain Baulande,Audrey Criqui,Nathalie Roeckel-Trévisiol,Christel Dagher,Mahmoud Taleb Al‐Ali,Jean‐Pierre Desvignes,Daniel Mahfoud,Stephany El‐Hayek,Valérie Delague	2021	1
3	Hox-dependent coordination of mouse cardiac progenitor cell patterning and differentiation Sonia Stefanovic,Brigitte Laforest,Jean‐Pierre Desvignes,Fabienne Lescroart,Laurent Argiro,Corinne Maurel-Zaffran,David Salgado,Elise Plaindoux,Christopher De Bono,Kristijan Pažur,Magali Théveniau‐Ruissy,Christophe Béroud,Michel Pucéat,Anthony Gavalas,Robert G. Kelly,Stéphane Zaffran	2020	38
4	Piezo1 is required for outflow tract and aortic valve development. Adèle Faucherre,Hamid Moha ou Maati,Nathalie Nasr,Amélie Pinard,Alexis Théron,Gaëlle Odelin,Jean‐Pierre Desvignes,David Salgado,Gwenaëlle Collod‐Béroud,Jean-François Aviérinos,Guillaume Lebon,Stéphane Zaffran,Chris Jopling	2020	55
5	Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1 Lara El-Bazzal,Khalil Rihan,Nathalie Bernard‐Marissal,Christel Castro,Éliane Chouery,Jean‐Pierre Desvignes,Alexandre Atkinson,Karine Bertaux,Salam Koussa,Nicolas Lévy,Marc Bartoli,André Mégarbané,Rosette Jabbour,Valérie Delague	2019	16
6	Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation Juliette Bacquet,Tanya Stojkovic,Amandine Boyer,Nathalie Martini,Frédérique Audic,B. Chabrol,Emmanuelle Salort‐Campana,Émilien Delmont,Jean‐Pierre Desvignes,Annie Verschueren,Shahram Attarian,Annabelle Chaussenot,Valérie Delague,Nicolas Lévy,Nathalie Bonello‐Palot	2018	40
7	Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome Nehla Ghedira,Arnaud Lagarde,Karim Ben Ameur,Sahar Elouej,Rania Sakka,Emna Kerkeni,Fatma-Zohra Chioukh,Sylviane Olschwang,Jean‐Pierre Desvignes,Sonia Abdelhak,Valérie Delague,Nicolas Lévy,Kamel Monastiri,Annachiara De Sandre‐Giovannoli	2018	3
8	VarAFT: a variant annotation and filtration system for human next generation sequencing data Jean‐Pierre Desvignes,Marc Bartoli,Valérie Delague,Martin Krahn,Morgane Miltgen,Christophe Béroud,David Salgado	2018	138
9	Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men Yasmina Auguste,Valérie Delague,Jean‐Pierre Desvignes,Guy Longepied,A. Gnisci,Pierre Besnier,Nicolas Lévy,Christophe Béroud,André Mégarbané,Catherine Metzler‐Guillemain,Michael Mitchell	2018	67
10	Exome Sequencing Identifies Two Variants of the Alkylglycerol Monooxygenase Gene as a Cause of Relapses in Visceral Leishmaniasis in Children, in Sudan Sandrine Marquet,Bruno Bucheton,Camille Reymond,Laurent Argiro,Sayda El‐Safi,Musa Mohamed Kheir,Jean‐Pierre Desvignes,Christophe Béroud,Adil Mergani,Awad Hammad,Alain J. Dessein	2017	8
11	Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) Sahar Elouej,Ana Beleza‐Meireles,Richard Caswell,Kevin Colclough,Sian Ellard,Jean‐Pierre Desvignes,Christophe Béroud,Nicolas Lévy,Shehla Mohammed,Annachiara De Sandre‐Giovannoli	2017	37
12	Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2 , TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma Laurent Jallades,Lucile Baseggio,Pierre Sujobert,Sarah Huet,Kaddour Chabane,Evelyne Callet‐Bauchu,Aurélie Verney,Sandrine Hayette,Jean‐Pierre Desvignes,David Salgado,Nicolas Lévy,Christophe Béroud,Pascale Felman,Françoise Berger,Jean‐Pierre Magaud,Laurent Genestier,Gilles Salles,Alexandra Traverse‐Glehen	2017	53
13	Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton Caroline Lacoste,Jean‐Pierre Desvignes,David Salgado,Christophe Pécheux,Laurent Villard,Marc Bartoli,Christophe Béroud,Nicolas Lévy,Catherine Badens,Martin Krahn	2016	2
14	Aubergine iCLIP Reveals piRNA-Dependent Decay of mRNAs Involved in Germ Cell Development in the Early Embryo Bridlin Barckmann,Stéphanie Pierson,Jérémy Dufourt,Catherine Papin,Claudia Armenise,Fillip Port,Thomas Grentzinger,Séverine Chambeyron,Grégory Baronian,Jean‐Pierre Desvignes,Tomaž Curk,Martine Simonelig	2015	98
15	Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders Svetlana Gorokhova,Mathieu Cérino,Yves Mathieu,Sébastien Courrier,Jean‐Pierre Desvignes,David Salgado,Christophe Béroud,Martin Krahn,Marc Bartoli	2015	14
16	The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia Cybel Mehawej,Agnès Delahodde,Laurence Legeai‐Mallet,Valérie Delague,Nabil Kaci,Jean‐Pierre Desvignes,Zoha Kibar,José‐Mario Capo‐Chichi,Éliane Chouery,Arnold Münnich,Valérie Cormier‐Daire,André Mégarbané	2014	31
17	In-Cell Intrabody Selection from a Diverse Human Library Identifies C12orf4 Protein as a New Player in Rodent Mast Cell Degranulation Elsa Mazuc,Laurence Guglielmi,Nicole Bec,Vincent Parez,Chang S. Hahn,Caroline Mollévi,Hugues Parrinello,Jean‐Pierre Desvignes,Christian Larroque,Jupp Ray,Piona Dariavach,Pierre Martineau	2014	14
18	AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome) Pierre Cacciagli,Jean‐Pierre Desvignes,Nadine Girard,Marc Délepine,Diana Zélénika,Mark Lathrop,Nicolas Lévy,David H. Ledbetter,William B. Dobyns,Laurent Villard	2013	37
19	Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus Pierre Cacciagli,Julie Sutera-Sardo,Ana Borges-Correia,Jean‐Christophe Roux,Imen Dorboz,Jean‐Pierre Desvignes,Catherine Badens,Marc Délepine,Mark Lathrop,Pierre Cau,Nicolas Lévy,Nadine Girard,Pierre Sarda,Odile Boespflug‐Tanguy,Laurent Villard	2013	48
20	Essential requirement for β-arrestin2 in mouse intestinal tumors with elevated Wnt signaling Caroline Bonnans,Maud Flacelière,Fanny Grillet,Christelle Le Dantec,Jean‐Pierre Desvignes,Julie Pannequin,Dany Séverac,Emeric Dubois,Frédéric Bibeau,Virginie Escriou,Philippe Crespy,Laurent Journot,Frédéric Hollande,Dominique Joubert	2012	39

About Jean‐Pierre Desvignes

Jean‐Pierre Desvignes is a scholar working on Genetics, Genetics and Molecular Biology, having authored 31 papers that have together received 1.0k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (7 papers), Genomics and Phylogenetic Studies (4 papers), RNA and protein synthesis mechanisms (4 papers), Congenital heart defects research (3 papers), Cancer Genomics and Diagnostics (3 papers), RNA modifications and cancer (3 papers), RNA Research and Splicing (3 papers) and Erythrocyte Function and Pathophysiology (2 papers). The work is most often cited by research in Genetics (324 citations), Genetics (118 citations) and Molecular Biology (603 citations). Jean‐Pierre Desvignes has collaborated with scholars based in France, Lebanon and Tunisia. Frequent co-authors include Christophe Béroud, David Salgado, Nicolas Lévy, Valérie Delague, Marc Bartoli, Martin Krahn, Gwenaëlle Collod‐Béroud, Amélie Pinard, Arnaud Blanchard and André Mégarbané.

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