Pierre Cacciagli

1.4k citations

30 papers · 1.1k · h-index 18

Impact in

Genetics top 5%
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
Psychiatry and Mental health top 10%
- Epilepsy research and treatment

Papers in

Genetics 15
- Genetics and Neurodevelopmental Disorders 12
- Genomic variations and chromosomal abnormalities 7
- Genomics and Rare Diseases 2
Psychiatry and Mental health 5
- Epilepsy research and treatment 5

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

In The Last Decade

Pierre Cacciagli

29 papers receiving 995 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 30 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	2011	115
2	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	86
3	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	2013	86
4	Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11 American Journal of Medical Genetics Part A ·Alice Goldenberg, Florence Riccardi, Aude Tessier, Rolph Pfundt, Tiffany Busa, Pierre Cacciagli, Yline Capri, Charles Coutton	2016	73
5	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	2007	72
6	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, Marlene Rio, Martine Doco‐Fenzy, Ana Medeira, Arjan P.M. de Brouwer, Christelle Cabrol	2013	65
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	2008	58
8	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	2013	56
9	Epileptic patients with de novo STXBP 1 mutations: Key clinical features based on 24 cases Epilepsia ·Chloé Di Meglio, Gaëtan Lesca, Nathalie Villeneuve, Caroline Lacoste, Affef Abidi, Pierre Cacciagli, Cécilia Altuzarra, Agathe Roubertie	2015	49
10	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 J Girard, Marc Délepine, Diana Zélénika, Gregory Mark Lathrop, Nicolas Lévy, David H. Ledbetter	2013	49
11	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	2015	43
12	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, Anne Moncla, Mathieu Milh, Nadine J Girard, B. Chabrol, Laurent Villard +1 other	2009	38
13	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	38
14	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 J Girard, Mathieu Milh, Laurent Villard	2015	35
15	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	2018	34
16	Clinical study of 19 patients with SCN 8A ‐related epilepsy: Two modes of onset regarding EEG and seizures Epilepsia ·Julien Denis, Nathalie Villeneuve, Pierre Cacciagli, Cécile Mignon‐Ravix, Caroline Lacoste, Jérémie Lefranc, Sylvia Napuri, Léna Damaj	2019	29
17	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	2014	28
18	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 Paul Germain, Gwenaël Nadeau, Jacques Puechberty, Christine Coubes, Vincent Gâtinois, Pierre Cacciagli	2017	24
19	Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability Epilepsy Research ·Anne‐Lise Poulat, Dorothee M. Ville, Julitta de Bellescize, Nathalie André‐Obadia, Pierre Cacciagli, Mathieu Milh, Laurent Villard, Gaëtan Lesca	2015	15
20	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	14

About Pierre Cacciagli

Pierre Cacciagli is a scholar working on Genetics, Psychiatry and Mental health, Molecular Biology, Cell Biology and Clinical Biochemistry, having authored 30 papers that have together received 1.1k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (12 papers), Genomic variations and chromosomal abnormalities (7 papers), Epilepsy research and treatment (5 papers), RNA regulation and disease (4 papers), Cellular transport and secretion (3 papers), Mitochondrial Function and Pathology (2 papers), Genomics and Rare Diseases (2 papers) and Chromosomal and Genetic Variations (2 papers). The work is most often cited by research in Genetics (512 citations), Psychiatry and Mental health (145 citations), Cell Biology (136 citations), Clinical Biochemistry (52 citations) and Molecular Biology (456 citations). Pierre Cacciagli has collaborated with scholars based in France, United States and Lebanon. Frequent co-authors include Laurent Villard, Cécile Mignon‐Ravix, B. Chabrol, Mathieu Milh, Chantal Missirian, Nadine J Girard, Anne Moncla, Nathalie Villeneuve, Nicole Philip and Bilal El Waly. Their work appears in journals such as European Journal of Human Genetics, Epilepsia, Human Mutation, Journal of Medical Genetics and Molecular Cytogenetics.

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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