Carla Ciccone

1.6k citations

40 papers · 1.0k indexed · h-index 19

Co-authors: Marjan Huizing William A. Gahl Thierry Vilboux May Christine V. Malicdan Donna M. Krasnewich Irini Manoli Patricia M. Zerfas Riko Klootwijk
Topics: Inflammatory Myopathies and Dermatomyositis (13 papers)Chronic Lymphocytic Leukemia Research (7 papers)Glycosylation and Glycoproteins Research (6 papers)
Cited by: Nephrology Genetics Epidemiology
Journals: Nucleic Acids Research Journal of Clinical InvestigationSHILAP Revista de lepidopterología
Partner nations: United States United Kingdom Italy

In The Last Decade

Carla Ciccone

39 papers receiving 993 citations

Peers

Countries citing papers authored by Carla Ciccone

Since Specialization

Citations

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

Fields of papers citing papers by Carla Ciccone

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Carla Ciccone

This figure shows the co-authorship network connecting the top 25 collaborators of Carla Ciccone. A scholar is included among the top collaborators of Carla Ciccone 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 Carla Ciccone. Carla Ciccone 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	Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder 2025 ·PubMed ·Marya S. Sabir,Lynne A. Wolfe,David R. Adams,Carla Ciccone,Forbes D. Porter,William A. Gahl,Marjan Huizing,Frances M. Platt,May Christine V. Malicdan	0
2	Quantitative correlation of ENPP1 pathogenic variants with disease phenotype 2024 ·Bone ·(unknown),Paul R. Stabach,Carla Ciccone,Wenxiang Cao,Enrique M. De La Cruz,Yves Sabbagh,Thomas O. Carpenter,Carlos R. Ferreira,Demetrios T. Braddock	3
3	Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature 2023 ·Journal of Medical Genetics ·Marie Morimoto,Elena‐Raluca Nicoli,(unknown),Joseph C. Roney,(unknown),Prashant Sharma,David R. Adams,John I. Gallin,Steven M. Holland,Sergio D. Rosenzweig,José Barbot,Carla Ciccone,Marjan Huizing,Camilo Toro,William A. Gahl,Wendy J. Introne,May Christine V. Malicdan	8
4	cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome 2023 ·Frontiers in Genetics ·(unknown),Marie Morimoto,Elena‐Raluca Nicoli,Joshi Stephen,(unknown),Heidi Dorward,William F. Owen,Suhag Parikh,Namık Yaşar Özbek,Barış Malbora,Carla Ciccone,Meral Gunay‐Aygun,William A. Gahl,Wendy J. Introne,May Christine V. Malicdan	2
5	Open-Label Phase 2 Clinical Trial of ManNAc for GNE Myopathy (S23.008) 2019 ·Neurology ·Nuria Carrillo,Marjan Huizing,Petcharat Leoyklang,Melanie Quintana,Joseph A. Shrader,(unknown),Christina Slota,John Perreault,(unknown),Carla Ciccone,Rebecca Parks,Galen O. Joe,John D. Heiss,Scott Berry,May Christine V. Malicdan,William A. Gahl	1
6	Safety, pharmacokinetics and sialic acid production after oral administration of N -acetylmannosamine (ManNAc) to subjects with GNE myopathy 2017 ·Molecular Genetics and Metabolism ·Xin Xu,Amy Q. Wang,Lea Latham,(unknown),Carla Ciccone,May Christine V. Malicdan,Barry R. Goldspiel,Pramod Terse,James C. Cradock,N. Nora Yang,Selwyn C. Yorke,John C. McKew,William A. Gahl,Marjan Huizing,Nuria Carrillo	44
7	Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants 2017 ·Human Genetics ·(unknown),Seth Berger,Carla Ciccone,(unknown),May Christine V. Malicdan,Thierry Vilboux,Charles J. Billington,Roxanne Fischer,Wendy J. Introne,Andrea Gropman,Jan Blancato,James C. Mullikin,William A. Gahl,Marjan Huizing,Ann C. M. Smith	18
8	Genetic Analysis Reveals that GNE Myopathy is an Underdiagnosed Neuromuscular Disorder (P2.044) 2015 ·Neurology ·Marjan Huizing,May Christine V. Malicdan,(unknown),Thierry Vilboux,Carla Ciccone,William A. Gahl,Nuria Carrillo	1
9	Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria 2014 ·Molecular Genetics and Metabolism Reports ·Christina Lam,(unknown),(unknown),Carla Ciccone,Heidi Dorward,George Hoganson,Lynne A. Wolfe,William A. Gahl,Marjan Huizing	6
10	1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis 2013 ·Clinical Journal of the American Society of Nephrology ·Galina Nesterova,May Christine V. Malicdan,Kaori Yasuda,Toshiyuki Sakaki,Thierry Vilboux,Carla Ciccone,Ronald L. Horst,Yan Huang,Gretchen Golas,Wendy J. Introne,Marjan Huizing,David R. Adams,Cornelius F. Boerkoel,Michael T. Collins,William A. Gahl	100
11	Effects of microcurrent stimulation on Hyaline cartilage repair in immature male rats (Rattus norvegicus) 2013 ·BMC Complementary and Alternative Medicine ·Carla Ciccone,(unknown),Lia Mara Grosso Neves,(unknown),Paulo Pinto Joazeiro,Marcelo Augusto Marretto Esquisatto	18
12	The Gne M712T Mouse as a Model for Human Glomerulopathy 2012 ·American Journal Of Pathology ·(unknown),Tal Yardeni,Justin Poling,Carla Ciccone,Terren K. Niethamer,Enriko Klootwijk,Irini Manoli,Daniel Darvish,Shelley Hoogstraten-Miller,Patricia M. Zerfas,E Tian,Kelly G. Ten Hagen,Jeffrey B. Kopp,William A. Gahl,Marjan Huizing	25
13	Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy 2012 ·Glycoconjugate Journal ·Tal Yardeni,(unknown),Terren K. Niethamer,Carla Ciccone,Yair Anikster,Natalya Kurochkina,William A. Gahl,Marjan Huizing	3
14	Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion 2011 ·PLoS ONE ·Thierry Vilboux,Carla Ciccone,Jan Blancato,Gerald F. Cox,Charu Deshpande,Wendy J. Introne,William A. Gahl,Ann C. M. Smith,Marjan Huizing	31
15	Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia 2011 ·Journal of Investigative Dermatology ·Andrew R. Cullinane,Thierry Vilboux,Kevin O’Brien,(unknown),Dawn Maynard,Hannah Carlson-Donohoe,Carla Ciccone,NISC Comparative Sequencing Program,Thomas C. Markello,Meral Gunay‐Aygun,Marjan Huizing,William A. Gahl	52
16	Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2 2010 ·Molecular Genetics and Metabolism ·Lisa M. Vincent,Fiona J. Gilbert,Jennifer DiPace,Carla Ciccone,Thomas C. Markello,(unknown),Heidi Dorward,Wendy Westbroek,William A. Gahl,James B. Bussel,Marjan Huizing	11
17	Brain alteration in a Nude/SCID fetus carrying FOXN1 homozygous mutation 2010 ·Journal of the Neurological Sciences ·(unknown),(unknown),Ennio Del Giudice,Luigi Panico,Giuseppe Maria Maruotti,Anna Fusco,Mario Quarantelli,Carla Ciccone,Matilde Valeria Ursini,Pasquale Martinelli,Claudio Pignata	9
18	Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study 2007 ·BMC Neurology ·Susan Sparks,Goran Rakočević,Galen O. Joe,Irini Manoli,Joseph A. Shrader,Michael O. Harris‐Love,Barbara C. Sonies,Carla Ciccone,Heidi Dorward,Donna M. Krasnewich,Marjan Huizing,Marinos C. Dalakas,William A. Gahl	44
19	Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy 2005 ·Molecular Genetics and Metabolism ·(unknown),Carla Ciccone,Daniel Darvish,(unknown),Marinos C. Dalakas,Paul J.M. Savelkoul,Donna M. Krasnewich,William A. Gahl,Marjan Huizing	6
20	A polymorphic DNA sequence (174-3.7) on chromosome 19 [D19S58] 1989 ·Nucleic Acids Research ·(unknown),(unknown),(unknown),Carla Ciccone,A.P. Walker,(unknown),A.D. Roses	1

About Carla Ciccone

Carla Ciccone is a scholar working on Genetics, Gastroenterology and Nephrology, having authored 40 papers that have together received 1.0k indexed citations. Recurring topics across this work include Inflammatory Myopathies and Dermatomyositis (13 papers), Chronic Lymphocytic Leukemia Research (7 papers) and Glycosylation and Glycoproteins Research (6 papers). The work is most often cited by research in Nephrology (84 citations), Genetics (119 citations) and Epidemiology (280 citations). Carla Ciccone has collaborated with scholars based in United States, United Kingdom and Italy. Frequent co-authors include Marjan Huizing, William A. Gahl, Thierry Vilboux, May Christine V. Malicdan, Donna M. Krasnewich, Irini Manoli, Patricia M. Zerfas, Riko Klootwijk, Nuria Carrillo and Petcharat Leoyklang. Their work appears in journals such as Nucleic Acids Research, Journal of Clinical Investigation and SHILAP Revista de lepidopterología.

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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