Carla Ciccone

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 8 papers. Top paper: “Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study”.

Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study

Genetics in Medicine(2021)10.1038/s41436-021-01259-x

N/A

1.9DataRank · unranked

56 citations

May Christine V. Malicdan, Petcharat Leoyklang, Joseph A. Shrader, Galen O. Joe, Christina Slota +17 more

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Journal of Medical Genetics(2023)10.1136/jmg-2023-109420

N/A

0DataRank · unranked

22 citations

Elena‐Raluca Nicoli, Chulaluck Kuptanon, Joseph C. Roney, Jenny Serra‐Vinardell, Prashant Sharma +12 more

cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome

Frontiers in Genetics(2023)10.3389/fgene.2023.1072784

N/A

0DataRank · unranked

6 citations

Marie Morimoto, Elena‐Raluca Nicoli, Joshi Stephen, David S. Yarnell, Heidi Dorward +10 more

Quantitative correlation of ENPP1 pathogenic variants with disease phenotype

Bone(2024)10.1016/j.bone.2024.117136

N/A

0DataRank · unranked

7 citations

Paul R. Stabach, Carla Ciccone, Wenxiang Cao, Enrique M. De La Cruz, Yves Sabbagh +4 more

Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder

Rare(2025)10.1016/j.rare.2025.100065

N/A

0DataRank · unranked

2 citations

Lynne A. Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl +4 more

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder

JIMD Reports(2025)10.1002/jmd2.70029

N/A

0DataRank · unranked

0 citations

Laura Pollard, Lynne A. Wolfe, David R. Adams, Carla Ciccone, Petcharat Leoyklang +5 more

Assessment of Thyroid Function in Patients With Alkaptonuria

JAMA Network Open(2020)10.1001/jamanetworkopen.2020.1357

N/A

0DataRank · unranked

18 citations

Wendy J. Introne, Sungyoung Auh, Steven J. Soldin, Brian Stolze, Debra S. Regier +6 more

Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder

Molecular Genetics and Metabolism Reports(2025)10.1016/j.ymgmr.2025.101275

N/A

0DataRank · unranked

0 citations

Kostantin Dobrenis, Allisandra Rha, Laura Pollard, Petcharat Leoyklang, Mariah Marrero +8 more