Fabienne Giuliano

4.7k total citations
38 papers, 1.1k citations indexed

About

Fabienne Giuliano is a scholar working on Genetics, Molecular Biology and Surgery. According to data from OpenAlex, Fabienne Giuliano has authored 38 papers receiving a total of 1.1k indexed citations (citations by other indexed papers that have themselves been cited), including 23 papers in Genetics, 21 papers in Molecular Biology and 6 papers in Surgery. Recurrent topics in Fabienne Giuliano's work include Genetics and Neurodevelopmental Disorders (13 papers), Genomic variations and chromosomal abnormalities (8 papers) and Congenital heart defects research (5 papers). Fabienne Giuliano is often cited by papers focused on Genetics and Neurodevelopmental Disorders (13 papers), Genomic variations and chromosomal abnormalities (8 papers) and Congenital heart defects research (5 papers). Fabienne Giuliano collaborates with scholars based in France, Switzerland and Belgium. Fabienne Giuliano's co-authors include Catherine Badens, Nicolas Lévy, Christophe Philippe, Anja Wagner, Raoul C. M. Hennekam, Amandine Boyer, Annachiara De Sandre‐Giovannoli, Pierre Cau, Claire Navarro and Carlos López-Otı́n and has published in prestigious journals such as Journal of the American College of Cardiology, The American Journal of Human Genetics and Human Molecular Genetics.

In The Last Decade

Fabienne Giuliano

36 papers receiving 1.0k citations

Peers

Countries citing papers authored by Fabienne Giuliano

Since Specialization

Citations

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

Fields of papers citing papers by Fabienne Giuliano

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Fabienne Giuliano

This figure shows the co-authorship network connecting the top 25 collaborators of Fabienne Giuliano. A scholar is included among the top collaborators of Fabienne Giuliano 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 Fabienne Giuliano. Fabienne Giuliano 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	Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly 2021 ·American Journal of Medical Genetics Part A ·(unknown), (unknown), (unknown), Sandra Whalen, (unknown), Sophie Kaltenbach, Andrea Superti‐Furga, Michel Vekemans, Heidi Fodstad, Fabienne Giuliano, Tania Attié‐Bitach	0
2	Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome 2020 ·Pigment Cell & Melanoma Research ·Perrine Pennamen, Angèle Tingaud‐Sequeira, Vincent Michaud, Fanny Morice‐Picard, Claudio Plaisant, (unknown), Fabienne Giuliano, Saba Azarnoush, Yline Capri, Carolina Reato Marçon, Didier Lacombe, Eulalie Lasseaux, Benoı̂t Arveiler	7
3	Forefoot malformations, deformities and other congenital defects in children 2019 ·Orthopaedics & Traumatology Surgery & Research ·Virginie Rampal, Fabienne Giuliano	10
4	MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review 2019 ·European Journal of Medical Genetics ·(unknown), (unknown), Fabienne Giuliano, Manoëlle Kossorotoff, Marine Parodi, Souad Gherbi, (unknown), Laurence Jonard, Sandrine Marlin	12
5	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
6	Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients 2018 ·European Journal of Human Genetics ·Julien Masliah‐Planchon, (unknown), Delphine Héron, Fabienne Giuliano, Catherine Badens, Paul Fréneaux, Louise Galmiche, (unknown), C. Cellier, Joshua J. Waterfall, (unknown), Gaëlle Pierron, Christophe Glorion, Isabelle Desguerre, (unknown), Anne Deville, Olivier Delattre, Jean Michon, Franck Bourdeaut	20
7	Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis 2015 ·The American Journal of Human Genetics ·(unknown), Flora Nolent, Jérôme Maluenda, (unknown), Fabienne Giuliano, Marta Gut, Damien Sternberg, Annie Laquerrière, Judith Melki	48
8	Decompressive craniectomy may cause diagnostic challenges to assess brain death by computed tomography angiography. 2014 ·PubMed ·(unknown), Matteo Stefanini, Silvia Natoli, (unknown), (unknown), Fabienne Giuliano, (unknown), (unknown), (unknown), (unknown), G Simonetti, Francesco De Leonardis	9
9	Delineation of a region responsible for panhypopituitarism in 20p11.2 2013 ·American Journal of Medical Genetics Part A ·(unknown), Fabienne Giuliano, K. Wagner-Mahler, (unknown), (unknown), (unknown), Houda Karmous‐Benailly	28
10	Arterial Tortuosity Syndrome 2013 ·Journal of the American College of Cardiology ·Pamela Moceri, Juliette Albuisson, (unknown), (unknown), Fabienne Giuliano, (unknown), P Benoit, (unknown), (unknown), Pierre Cerboni, C. Dageville, Xavier Jeunemaı̂tre	12
11	The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males 2010 ·Clinical Genetics ·David Germanaud, Massimiliano Rossi, Gérald Bussy, Daniel Gérard, Lucie Hertz‐Pannier, Patricia Blanchet, Hélène Dollfus, Fabienne Giuliano, (unknown), P. Sardá, Sabine Sigaudy, Aurore Curie, (unknown), Renaud Touraine, V. des Portes	36
12	Evolution of a patient with Bohring–Opitz syndrome 2009 ·American Journal of Medical Genetics Part A ·(unknown), Christian Richelme, (unknown), (unknown), Jacques Griffet, Houda Karmous‐Benailly, M.P. Quéré, Tadashi Kaname, (unknown), Fabienne Giuliano	4
13	Mutational spectrum of CDKL5 in early‐onset encephalopathies: a study of a large collection of French patients and review of the literature 2009 ·Clinical Genetics ·Christophe Némos, Laëtitia Lambert, Fabienne Giuliano, Bérénice Doray, (unknown), Alice Goldenberg, B Delobel, Valérie Layet, (unknown), (unknown), (unknown), Philippe Jonveaux, Christophe Philippe	83
14	TCF4Deletions in Pitt-Hopkins Syndrome 2008 ·Human Mutation ·Irina Giurgea, Chantal Missirian, Pierre Cacciagli, Sandra Whalen, Tessa Fredriksen, (unknown), Julia Rankin, Michèle Mathieu‐Dramard, G Morin, Dominique Martin‐Coignard, Christèle Dubourg, B. Chabrol, (unknown), Fabienne Giuliano, (unknown), Nicole Philip, Pierre Sarda, Laurent Villard, Michel Goossens, Anne Moncla	45
15	The three stages of epilepsy in patients with CDKL5 mutations 2008 ·Epilepsia ·Nadia Bahi‐Buisson, Anna Kamińska, Nathalie Boddaert, Marlène Rio, Alexandra Afenjar, Marion Gérard, Fabienne Giuliano, Jacques Motté, Delphine Héron, (unknown), Perrine Plouin, Christian Richelme, Vincent des Portes, Olivier Dulac, Christophe Philippe, Catherine Chiron, Rima Nabbout, Thierry Bienvenu	139
16	Acrocallosal syndrome in fetus: focus on additional brain abnormalities 2007 ·Acta Neuropathologica ·Carla Fernandez, (unknown), Béma Coulibaly, Agnès Liprandi, (unknown), Fabienne Giuliano, Sabine Sigaudy, Dominique Figarella‐Branger, Catherine Fallet‐Bianco	3
17	Syndrome ATR-X : une nouvelle mutation du gène XNP/ATRX à proximité du domaine hélicase 2005 ·Archives de Pédiatrie ·Fabienne Giuliano, Catherine Badens, Christian Richelme, Nicolas Lévy, (unknown)	1
18	Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in theWFS1 gene 2004 ·Human Mutation ·Fabienne Giuliano, Sylvie Bannwarth, Sophie Monnot, Aline Cano, B. Chabrol, B. Vialettes, Bruno Delobel, (unknown), (unknown)	46
19	Potentially functional regions of nucleic acids recognized by a Kohonen's self-organizing map 1993 ·Computer applications in the biosciences ·Fabienne Giuliano, Patrizio Arrigo, (unknown), (unknown), Giuseppe Damiani	11
20	Identification of a new motif on nucleic acid sequence data using Kohonen's self-organizing map 1991 ·Computer applications in the biosciences ·Patrizio Arrigo, Fabienne Giuliano, (unknown), Arnaldo Rapallo, G Damiani	40

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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