Annick Toutain

14.2k total citations
138 papers, 4.0k citations indexed

About

Annick Toutain is a scholar working on Molecular Biology, Genetics and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Annick Toutain has authored 138 papers receiving a total of 4.0k indexed citations (citations by other indexed papers that have themselves been cited), including 73 papers in Molecular Biology, 65 papers in Genetics and 18 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Annick Toutain's work include Genetics and Neurodevelopmental Disorders (27 papers), Genomic variations and chromosomal abnormalities (20 papers) and Prenatal Screening and Diagnostics (12 papers). Annick Toutain is often cited by papers focused on Genetics and Neurodevelopmental Disorders (27 papers), Genomic variations and chromosomal abnormalities (20 papers) and Prenatal Screening and Diagnostics (12 papers). Annick Toutain collaborates with scholars based in France, United States and Switzerland. Annick Toutain's co-authors include Claude Moraine, Arnold Münnich, Valérie Cormier‐Daire, Marie‐Pierre Moizard, Michel Vekemans, Martine Le Merrer, Renaud Touraine, A. Gélot, Martine Raynaud and Géraldine Viot and has published in prestigious journals such as Science, New England Journal of Medicine and Nature Genetics.

In The Last Decade

Annick Toutain

131 papers receiving 3.9k citations

Peers

Countries citing papers authored by Annick Toutain

Since Specialization

Citations

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

Fields of papers citing papers by Annick Toutain

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Annick Toutain

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

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

#	Work	Indexed citations
1	Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder–Robinson Syndrome 2024 ·Clinical Genetics ·(unknown), Nathalie Ronce, Benjamin Cogné, Thomas Besnard, (unknown), C. Hübert, Marie‐Pierre Moizard, Paul Gueguen, Annick Toutain, Marie‐Laure Vuillaume	0
2	T-Cell-Related Skin Inflammatory Flareups with Th1 Polarity in a Patient with Pseudoxanthoma Elasticum 2024 ·SHILAP Revista de lepidopterología ·(unknown), Emeline Vinatier, Céline Fassot, (unknown), Annick Toutain, (unknown), (unknown), Laurence Preisser, Anne Croué, Olivier Le Saux, Alain Morel, Yves Delneste, (unknown)	0
3	Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth 2021 ·Human Genetics ·Médéric Jeanne, Marie‐Laure Vuillaume, (unknown), Valerie E. Vancollie, Christel Wagner, Stephan C. Collins, (unknown), Damien Haye, (unknown), Rolph Pfundt, (unknown), Marie‐Pierre Moizard, Sylviane Marouillat, Tjitske Kleefstra, Binnaz Yalcin, Frédéric Laumonnier, Annick Toutain	14
4	Overgrowth syndromes — clinical and molecular aspects and tumour risk 2019 ·Nature Reviews Endocrinology ·Frédéric Brioude, Annick Toutain, Éloïse Giabicani, (unknown), Valérie Cormier‐Daire, Irène Netchine	56
5	Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster 2019 ·European Journal of Human Genetics ·Cédric Le Caignec, Olivier Pichon, (unknown), (unknown), C. Bonnard, Pierre Lindenbaum, Richard Redon, Caroline Schluth‐Bolard, (unknown), Pierre‐Antoine Rollat‐Farnier, (unknown), Marie‐Laure Vuillaume, Damien Sanlaville, Denis Duboule, André Mégarbané, Annick Toutain	10
6	CUGC for Simpson-Golabi-Behmel syndrome (SGBS) 2019 ·European Journal of Human Genetics ·Marie‐Laure Vuillaume, Marie‐Pierre Moizard, Alessandra Baumer, (unknown), Frédéric Brioude, Anita Rauch, Annick Toutain	10
7	Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders 2019 ·Molecular Genetics & Genomic Medicine ·(unknown), Tejasvi Niranjan, Melanie May, Patrick Tarpey, William Allen, Anna Hackett, Pierre‐Simon Jouk, Lucy Raymond, (unknown), Cindy Skinner, Annick Toutain, Jozef Gécz, William R. Heath, Roger E. Stevenson, Charles E. Schwartz, Tao Wang	10
8	New insights into minor splicing—a transcriptomic analysis of cells derived from TALS patients 2019 ·RNA ·(unknown), Clara Benoit‐Pilven, (unknown), Audrey Putoux, Amandine Campan-Fournier, Michael B. Bober, Christine de Die‐Smulders, Aimée Paulussen, Lucile Pinson, Annick Toutain, Chaim M. Roifman, Anne‐Louise Leutenegger, Sylvie Mazoyer, Patrick Edery, Vincent Lacroix	26
9	Mutation update for theGPC3gene involved in Simpson-Golabi-Behmel syndrome and review of the literature 2018 ·Human Mutation ·Marie‐Laure Vuillaume, Marie‐Pierre Moizard, (unknown), (unknown), (unknown), Jean‐Luc Alessandri, Tiffany Busa, Estelle Colin, Marion Gérard, Fabienne Giuliano, Laëtitia Lambert, (unknown), (unknown), Sheela Nampoothiri, Irène Netchine, Martine Raynaud, Frédéric Brioude, Annick Toutain	22
10	Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases 2015 ·Journal of Neuromuscular Diseases ·Isabelle Nelson, (unknown), (unknown), France Leturcq, Henri-Marc Bécane, Dominique Babuty, Annick Toutain, Christophe Béroud, Pascale Richard, Norma B. Romero, B. Eymard, Rabah Ben Yaou, Gisèle Bonne	26
11	A recurrent germline mutation in the PIGA gene causes Simpson‐Golabi‐Behmel syndrome type 2 2015 ·American Journal of Medical Genetics Part A ·Christine Fauth, Katharina Steindl, Annick Toutain, Sandra A. Farrell, Martina Witsch‐Baumgartner, Daniela Karall, Pascal Joset, (unknown), Alessandra Baumer, Oliver Maier, Johannes Zschocke, Rosanna Weksberg, Christian R. Marshall, Anita Rauch	30
12	Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism 2015 ·Psychiatric Genetics ·(unknown), (unknown), Sylviane Marouillat, Joëlle Malvy, (unknown), Annick Toutain, (unknown), (unknown), Hélène Bénédetti, Frédéric Laumonnier, Catherine Barthélémy, Frédérique Bonnet‐Brilhault, Christian Andrés, Patrick Vourc’h	18
13	Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA 2011 ·Science ·Patrick Edery, Charles Marcaillou, Mourad Sahbatou, Audrey Labalme, Joëlle Chastang, Renaud Touraine, Emmanuel Tubacher, (unknown), Michael B. Bober, Sheela Nampoothiri, Pierre‐Simon Jouk, Elisabeth Steichen, Siren Berland, Annick Toutain, Carol A. Wise, Damien Sanlaville, Francis Rousseau, Françoise Clerget‐Darpoux, Anne‐Louise Leutenegger	159
14	Twenty-five novel mutations including duplications in the ATP7A gene 2010 ·Clinical Genetics ·(unknown), Nathalie Ronce, (unknown), Éric Bieth, Lydie Bürglen, Cyril Mignot, Isabelle Mortemousque, (unknown), (unknown), Cesare Danesino, (unknown), Pierre Castelnau, Annick Toutain, Claude Moraine, Martine Raynaud	15
15	Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10 2008 ·Human Mutation ·Cyril Goizet, Amir Boukhris, Emeline Mundwiller, Chantal Tallaksen, Sylvie Forlani, Annick Toutain, (unknown), (unknown), Christel Depienne, Alexandra Dürr, Giovanni Stévanin, Alexis Brice	95
16	Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome 2006 ·The American Journal of Human Genetics ·Anne‐Louise Leutenegger, Audrey Labalme, Emmanuelle Génin, Annick Toutain, Elisabeth Steichen, Françoise Clerget‐Darpoux, Patrick Edery	35
17	La dystrophie musculaire des ceintures autosomique dominante associée à des troubles de la conduction cardiaque (LGMD1B). Description de 8 nouvelles familles avec mutations du gène LMNA 2005 ·Revue Neurologique ·Rabah Ben Yaou, Henri Marc Bécane, L. Demay, Pascal Laforêt, Didier Hannequin, (unknown), Valérie Drouin‐Garraud, Xavier Ferrer, J.M. Mussini, (unknown), P. Petiot, I. Pénisson-Besnier, Nathalie Streichenberger, Annick Toutain, Pascale Richard, B. Eymard, Gisèle Bonne	12
18	Akinesia, Arthrogryposis, Craniosynostosis: A Presentation of Neonatal Myasthenia with Fetal Onset 2002 ·American Journal of Perinatology ·S. Cantagrel, L. Maury, (unknown), (unknown), Annick Toutain, Pierre Castelnau	5
19	Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures 2001 ·The American Journal of Human Genetics ·Jeanne Amiel, Yolanda Espinosa‐Parrilla, Julie Steffann, Philippe Gosset, Anna Pelet, Marguerite Prieur, Odile Boute, Agnès Choiset, Didier Lacombe, Nicole Philip, Martine Le Merrer, Hajime Tanaka, Marianne Till, Renaud Touraine, Annick Toutain, Michel Vekemans, Arnold Münnich, Stanislas Lyonnet	79
20	X-linked mental retardation: Linkage results in five unrelated families 1994 ·The American Journal of Human Genetics ·(unknown), (unknown), Annick Toutain	5

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.

Explore authors with similar magnitude of impact