Pierre Cacciagli

1.3k citations

25 papers · 739 · h-index 15

Impact in

Genetics top 5%
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
Cell Biology top 10%
- Cellular transport and secretion

Papers in

Genetics 17
- Genetics and Neurodevelopmental Disorders 13
- Genomic variations and chromosomal abnormalities 9
- Genomics and Rare Diseases 3
Molecular Biology 15
- RNA regulation and disease 4
- Mitochondrial Function and Pathology 3

Co-authors: Laurent Villard (25 shared papers)B. Chabrol (9 shared papers)Cécile Mignon‐Ravix (14 shared papers)Mathieu Milh (12 shared papers)Chantal Missirian (5 shared papers)Nadine Girard (6 shared papers)Anne Moncla (3 shared papers)Nathalie Villeneuve (5 shared papers)
Journals: European Journal of Human Genetics (5 papers)Human Mutation (4 papers)Human Molecular Genetics (2 papers)Molecular Cytogenetics (2 papers)Journal of Medical Genetics (2 papers)
Partner nations: France United States Lebanon

In The Last Decade

Pierre Cacciagli

24 papers receiving 717 citations

Peers

Countries citing papers authored by Pierre Cacciagli

Since Specialization

Citations

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

Fields of papers citing papers by Pierre Cacciagli

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Pierre Cacciagli, 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 Pierre Cacciagli Line = papers co-authored together Pierre Cacciagli 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	Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations Epilepsia ·Mathieu Milh, Nathalie Villeneuve, Mondher Chouchane, Anna Kamińska, Cécile Laroche, Marie Anne Barthez, Cyril Gitiaux, Céline Bartoli, Ana Borges-Correia, Pierre Cacciagli, Cécile Mignon‐Ravix, Hélène Cuberos, B. Chabrol, Laurent Villard	2011	94
2	Novel Compound Heterozygous Mutations inTBC1D24Cause Familial Malignant Migrating Partial Seizures of Infancy Human Mutation ·Mathieu Milh, Antonio Falace, Nathalie Villeneuve, Nicola Vanni, Pierre Cacciagli, Stefania Assereto, Rima Nabbout, Fabio Benfenati, Federico Zara, B. Chabrol, Laurent Villard, Anna Fassio	2013	69
3	Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype European Journal of Human Genetics ·Pierre Cacciagli, Marie-Reine Haddad, Cécile Mignon‐Ravix, Bilal El Waly, Anne Moncla, Chantal Missirian, B. Chabrol, Laurent Villard	2010	66
4	A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype Human Mutation ·Anne Moncla, Chantal Missirian, Pierre Cacciagli, Eve Balzamo, Laurence Legeai‐Mallet, Jean-Luc Jouve, B. Chabrol, Martine Le Merrer, Ghislaine Plessis, Laurent Villard, Nicole Philip	2007	66
5	Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth Human Molecular Genetics ·Lionel Van Maldergem, Qingming Hou, Vera M. Kalscheuer, Marlène Rio, Martine Doco‐Fenzy, Ana Medeira, Arjan P.M. de Brouwer, Christelle Cabrol, Stefan A. Haas, Pierre Cacciagli, Sébastien Moutton, Emilie Landais, Jacques Motté, Laurence Colleaux, Céline Bonnet, Laurent Villard, Juliette Dupont, Heng‐Ye Man	2013	55
6	Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus The American Journal of Human Genetics ·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
7	TCF4Deletions in Pitt-Hopkins Syndrome Human Mutation ·Irina Giurgea, Chantal Missirian, Pierre Cacciagli, Sandra Whalen, Tessa Fredriksen, Thierry Gaillon, Julia Rankin, Michèle Mathieu‐Dramard, G Morin, Dominique Martin‐Coignard, Christèle Dubourg, B. Chabrol, Jacqueline Arfi, Fabienne Giuliano, Jean Claude Lambert, Nicole Philip, Pierre Sarda, Laurent Villard, Michel Goossens, Anne Moncla	2008	45
8	Variable clinical expression in patients with mosaicism for KCNQ2 mutations American Journal of Medical Genetics Part A ·Mathieu Milh, Caroline Lacoste, Pierre Cacciagli, Affef Abidi, Julie Sutera-Sardo, Ilias Tzelepis, Estelle Colin, Catherine Badens, Alexandra Afenjar, Anne Dieux Coeslier, Thomas Dailland, Gaëtan Lesca, Nicole Philip, Laurent Villard	2015	38
9	AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome) European Journal of Human Genetics ·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
10	Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia Journal of Medical Genetics ·Cécile Mignon‐Ravix, Pierre Cacciagli, Bilal El Waly, A. Moncla, Mathieu Milh, Nadine Girard, B. Chabrol, N. Philip, Laurent Villard	2009	32
11	Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability Molecular Cytogenetics ·Nancy Choucair, Cécile Mignon‐Ravix, Pierre Cacciagli, Joelle Abou Ghoch, Ali Fawaz, André Mégarbané, Laurent Villard, Éliane Chouery	2015	31
12	Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst Human Mutation ·Cécile Mignon‐Ravix, Mathieu Milh, Charlotte Sophia Kaiser, Jens Daniel, Florence Riccardi, Pierre Cacciagli, Majdi Nagara, Tiffany Busa, Eva Liebau, Laurent Villard	2018	30
13	Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient European Journal of Human Genetics ·Affef Abidi, Cécile Mignon‐Ravix, Pierre Cacciagli, Nadine Girard, Mathieu Milh, Laurent Villard	2015	27
14	Intragenic rearrangements in X‐linked intellectual deficiency: Results of a‐CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes American Journal of Medical Genetics Part A ·Cécile Mignon‐Ravix, Pierre Cacciagli, Nancy Choucair, Cornel Popovici, Chantal Missirian, Mathieu Milh, André Mégarbané, Tiffany Busa, Sophie Julia, Nadine Girard, Catherine Badens, Sabine Sigaudy, Nicole Philip, Laurent Villard	2014	23
15	The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability European Journal of Human Genetics ·Jérémie Mortreux, Tiffany Busa, Dominique P. Germain, Gwenaël Nadeau, Jacques Puechberty, Christine Coubes, Vincent Gâtinois, Pierre Cacciagli, Yannis Duffourd, Jean-Marc Pinard, Hélène Tevissen, Laurent Villard, Damien Sanlaville, Nicole Philip, Chantal Missirian	2017	22
16	Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability Epilepsy Research ·Anne‐Lise Poulat, Dorothée Ville, Julitta de Bellescize, Nathalie André‐Obadia, Pierre Cacciagli, Mathieu Milh, Laurent Villard, Gaëtan Lesca	2015	13
17	Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration European Journal of Paediatric Neurology ·Nathalie Villeneuve, Affef Abidi, Pierre Cacciagli, Cécile Mignon‐Ravix, B. Chabrol, Laurent Villard, Mathieu Milh	2017	12
18	Severe neonatal seizures: From molecular diagnosis to precision therapy? Revue Neurologique ·Mathieu Milh, Pierre Cacciagli, C. Mignon Ravix, Catherine Badens, Anne Lépine, Nathalie Villeneuve, Laurent Villard	2016	10
19	Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients Molecular Cytogenetics ·Nancy Choucair, Joelle Abou Ghoch, Sandra Corbani, Pierre Cacciagli, Cécile Mignon‐Ravix, Nabiha Salem, Nadine Jalkh, Sandra Sabbagh, Ali Fawaz, Tony Ibrahim, Laurent Villard, André Mégarbané, Éliane Chouery	2015	6
20	NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant Epilepsia ·Cécile Mignon‐Ravix, Florence Riccardi, Géraldine Daquin, Pierre Cacciagli, Sylvie Lamoureux-Toth, Laurent Villard, Nathalie Villeneuve, Florence Molinari	2023	5

About Pierre Cacciagli

Pierre Cacciagli is a scholar working on Genetics, Molecular Biology, Cell Biology, Psychiatry and Mental health and Clinical Biochemistry, having authored 25 papers that have together received 739 indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (13 papers), Genomic variations and chromosomal abnormalities (9 papers), Epilepsy research and treatment (5 papers), RNA regulation and disease (4 papers), Cellular transport and secretion (4 papers), Metabolism and Genetic Disorders (3 papers), Genomics and Rare Diseases (3 papers) and Mitochondrial Function and Pathology (3 papers). The work is most often cited by research in Genetics (391 citations), Cell Biology (120 citations), Clinical Biochemistry (49 citations), Psychiatry and Mental health (104 citations) and Molecular Biology (410 citations). Pierre Cacciagli has collaborated with scholars based in France, United States and Lebanon. Frequent co-authors include Laurent Villard, B. Chabrol, Cécile Mignon‐Ravix, Mathieu Milh, Chantal Missirian, Nadine Girard, Anne Moncla, Nathalie Villeneuve, Nicole Philip and Bilal El Waly. Their work appears in journals such as European Journal of Human Genetics, Human Mutation, Human Molecular Genetics, Molecular Cytogenetics and Journal of Medical Genetics.

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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Pierre Cacciagli

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