Armand Bottani

6.8k total citations
62 papers, 2.2k citations indexed

About

Armand Bottani is a scholar working on Genetics, Molecular Biology and Surgery. According to data from OpenAlex, Armand Bottani has authored 62 papers receiving a total of 2.2k indexed citations (citations by other indexed papers that have themselves been cited), including 38 papers in Genetics, 33 papers in Molecular Biology and 9 papers in Surgery. Recurrent topics in Armand Bottani's work include Genomic variations and chromosomal abnormalities (16 papers), Genetics and Neurodevelopmental Disorders (13 papers) and Genetic Syndromes and Imprinting (7 papers). Armand Bottani is often cited by papers focused on Genomic variations and chromosomal abnormalities (16 papers), Genetics and Neurodevelopmental Disorders (13 papers) and Genetic Syndromes and Imprinting (7 papers). Armand Bottani collaborates with scholars based in Switzerland, United States and France. Armand Bottani's co-authors include Stylianos E. Antonarakis, Albert Schinzel, Colette Rossier, Michael A. Morris, Maria D. Lalioti, Catherine Burési, Alain Malafosse, Hamish S. Scott, Wendy P. Robinson and Marco Mächler and has published in prestigious journals such as Nature, Genome Research and Ophthalmology.

In The Last Decade

Armand Bottani

59 papers receiving 2.1k citations

Peers

Countries citing papers authored by Armand Bottani

Since Specialization

Citations

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

Fields of papers citing papers by Armand Bottani

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Armand Bottani

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

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology 2024 ·Graefe s Archive for Clinical and Experimental Ophthalmology ·Veronika Vaclavik, (unknown), Alain Jacot-Guillarmod, Armand Bottani, Young Joo Sun, (unknown), Vinit B. Mahajan, (unknown), (unknown)	2
2	De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy 2020 ·The American Journal of Human Genetics ·(unknown), (unknown), Periklis Makrythanasis, Gabrielle Lemire, Justine Rousseau, Sophie Ehresmann, Thomas X. Garcia, (unknown), Armand Bottani, Sylviane Hanquinet, (unknown), Jennifer Heeley, Ann C. M. Smith, Seth Berger, Stylianos E. Antonarakis, Xiang‐Jiao Yang, Jacques Côté, Philippe M. Campeau	19
3	Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother 2018 ·Journal of Human Genetics ·Nelle Lambert, (unknown), Emmanuelle Ranza, Periklis Makrythanasis, Federico Santoni, Frédérique Sloan‐Béna, Stefania Gimelli, Jean‐Louis Blouin, Michel Guipponi, Armand Bottani, Stylianos E. Antonarakis, Markus Kosel, Joël Fluss, Ariane Paoloni‐Giacobino	17
4	Pectus excavatum et carinatum chez l'enfant et l'adolescent : que dire, que faire ? 2017 ·Archive ouverte UNIGE (University of Geneva) ·Pierre Lascombes, (unknown), Maurice Beghetti, Armand Bottani, (unknown)	0
5	Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome 2015 ·Molecular Syndromology ·Markus Gschwind, G. Foletti, Alessandra Baumer, Armand Bottani, Jan Nový	4
6	Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia – Anauxetic dysplasia spectrum disorder: A coincidental finding? 2015 ·European Journal of Paediatric Neurology ·(unknown), Armand Bottani, Laura Merlini, André Kaelin, Valérie Schwitzgebel, Paloma Parvex, Romain Dayer, Pierre Lascombes, Christian Korff	0
7	Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster 2014 ·Genome Research ·Federico Santoni, Periklis Makrythanasis, Sergey I. Nikolaev, Michel Guipponi, Daniel Robyr, Armand Bottani, Stylianos E. Antonarakis	26
8	Clinicopathologic and Molecular Analysis of a Choroidal Pigmented Schwannoma in the Context of a PTEN Hamartoma Tumor Syndrome 2012 ·Ophthalmology ·Giulia Venturini, Alexandre Moulin, Manuel Deprez, S. Uffer, Armand Bottani, Léonidas Zografos, Carlo Rivolta	5
9	Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: Could biallelic loss of conserved, non-coding elements lead to a phenotype? 2011 ·European Journal of Medical Genetics ·Periklis Makrythanasis, Stefania Gimelli, Frédérique Béna, Sophie Dahoun, Michael A. Morris, Stylianos E. Antonarakis, Armand Bottani	3
10	Subtelomeric 6p deletion: Clinical and array‐CGH characterization in two patients 2008 ·American Journal of Medical Genetics Part A ·Danielle Martinet, Isabel Filges, (unknown), Michael A. Morris, (unknown), Sophie Dahoun, Armand Bottani, Marie‐Claude Addor, Stylianos E. Antonarakis, J. Beckmann, Frédérique Béna	27
11	A de novo 1.1–1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features 2007 ·American Journal of Medical Genetics Part A ·Frédérique Béna, Armand Bottani, (unknown), (unknown), Bernard Conrad, Sophie Dahoun	13
12	Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome) 2007 ·The American Journal of Human Genetics ·Christiane Zweier, Maarit Peippo, Juliane Hoyer, Sérgio B. Sousa, Armand Bottani, Jill Clayton‐Smith, William Reardon, Jorge Saraiva, (unknown), (unknown), Koenraad Devriendt, Thomy de Ravel, Emilia K. Bijlsma, Raoul C. M. Hennekam, Alfredo Orrico, Monika Cohen, Alexander Dreweke, André Reis, (unknown), Anita Rauch	215
13	Genomewide Linkage Scan for Split–Hand/Foot Malformation with Long-Bone Deficiency in a Large Arab Family Identifies Two Novel Susceptibility Loci on Chromosomes 1q42.2-q43 and 6q14.1 2006 ·The American Journal of Human Genetics ·(unknown), Swapan K. Nath, (unknown), Mahmoud Taleb Al‐Ali, Najib Al‐Khaja, David Hutchings, (unknown), Samuel Deutsch, Armand Bottani, Stylianos E. Antonarakis, Uppala Ratnamala, Uppala Radhakrishna	24
14	Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: Clinical and genetic analysis 2006 ·American Journal of Medical Genetics Part A ·(unknown), Mahmoud Taleb Al‐Ali, Sabita K. Murthy, (unknown), Najib Al‐Khaja, Samuel Deutsch, Armand Bottani, Stylianos E. Antonarakis, Swapan K. Nath, Uppala Radhakrishna	18
15	Early fatal pontocerebellar hypoplasia in premature twin sisters 2000 ·European Journal of Paediatric Neurology ·(unknown), Gianpaolo Pizzolato, Sylviane Hanquinet, (unknown), Armand Bottani, Charles-Antoine Haenggeli	27
16	Proximal Myotonic Myopathy:Clinical, Electrophysiological andPathological Findings in a Family<footref rid="foot01"><sup>1</sup></footref> 2000 ·European Neurology ·André Köhler, Pierre R. Burkhard, (unknown), Armand Bottani, G P Pizzolato, M.R. Magistris	10
17	The Phenotypic Spectrum of GLI3 Morphopathies Includes Autosomal Dominant Preaxial Polydactyly Type-IV and Postaxial Polydactyly Type-A/B; No Phenotype Prediction from the Position of GLI3 Mutations 1999 ·The American Journal of Human Genetics ·Uppala Radhakrishna, Dorothea Bornholdt, Hamish S. Scott, (unknown), Colette Rossier, Hartmut Engel, Armand Bottani, (unknown), Jean-Louis Blouin, J. V. Solanki, Karl‐Heinz Grzeschik, Stylianos E. Antonarakis	127
18	A PCR Amplification Method Reveals Instability of the Dodecamer Repeat in Progressive Myoclonus Epilepsy (EPM1) and No Correlation between the Size of the Repeat and Age at Onset 1998 ·The American Journal of Human Genetics ·Maria D. Lalioti, Hamish S. Scott, Pierre Genton, Djamel Grid, Réda Ouazzani, A. Mrabet, (unknown), Riadh Gouider, Charlotte Dravet, T. Chkili, Armand Bottani, Catherine Burési, Alain Malafosse, Stylianos E. Antonarakis	52
19	Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy 1997 ·Nature ·Maria D. Lalioti, Hamish S. Scott, Catherine Burési, Colette Rossier, Armand Bottani, Michael A. Morris, Alain Malafosse, Stylianos E. Antonarakis	257
20	The cardio-facio-cutaneous syndrome: report of a patient and review of the literature 1991 ·European Journal of Pediatrics ·Armand Bottani, I Hammerer, Albert Schinzel	18

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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