Virginia Kimonis

15.6k total citations · 2 hit papers
194 papers, 8.5k citations indexed

About

Virginia Kimonis is a scholar working on Molecular Biology, Genetics and Neurology. According to data from OpenAlex, Virginia Kimonis has authored 194 papers receiving a total of 8.5k indexed citations (citations by other indexed papers that have themselves been cited), including 91 papers in Molecular Biology, 82 papers in Genetics and 40 papers in Neurology. Recurrent topics in Virginia Kimonis's work include Genetic Syndromes and Imprinting (41 papers), Genomic variations and chromosomal abnormalities (29 papers) and Prenatal Screening and Diagnostics (25 papers). Virginia Kimonis is often cited by papers focused on Genetic Syndromes and Imprinting (41 papers), Genomic variations and chromosomal abnormalities (29 papers) and Prenatal Screening and Diagnostics (25 papers). Virginia Kimonis collaborates with scholars based in United States, United Kingdom and Canada. Virginia Kimonis's co-authors include Alan Pestronk, Giles D. Watts, Margaret J. Kovach, Sarju Mehta, Michael P. Whyte, Sherri J. Bale, John J. DiGiovanna, Merlin G. Butler, Steven Mumm and Jouni Vesa and has published in prestigious journals such as Nucleic Acids Research, Nature Genetics and SHILAP Revista de lepidopterología.

In The Last Decade

Virginia Kimonis

188 papers receiving 8.3k citations

Hit Papers

align trajectories sort by overperformance

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

2004 1.0k citations Margaret J. Kovach, Virginia Kimonis et al. profile →
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome

1997 646 citations Virginia Kimonis et al. American Journal of Medical Genetics profile →

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Virginia Kimonis United States	45	4.2k	2.6k	2.2k	1.5k	1.2k	194	8.5k
Naomichi Matsumoto Japan	52	6.6k 1.6×	5.0k 1.9×	561 0.3×	1.1k 0.7×	471 0.4×	589	11.5k
Haluk Topaloğlu Türkiye	49	5.5k 1.3×	881 0.3×	1.2k 0.5×	1.5k 1.0×	353 0.3×	261	8.2k
Katherine B. Sims United States	46	2.8k 0.7×	690 0.3×	1.3k 0.6×	1.1k 0.7×	1.1k 0.9×	117	6.9k
Vania Broccoli Italy	55	8.1k 1.9×	2.9k 1.1×	655 0.3×	990 0.7×	314 0.3×	143	11.2k
Dennis E. Bulman Canada	41	4.8k 1.1×	1.9k 0.7×	988 0.5×	440 0.3×	281 0.2×	127	8.4k
Antonio Pizzuti Italy	44	6.5k 1.5×	3.3k 1.3×	1.2k 0.5×	433 0.3×	779 0.7×	217	10.0k
Egbert Bakker Netherlands	62	7.2k 1.7×	4.1k 1.6×	730 0.3×	579 0.4×	336 0.3×	246	12.3k
Mark Armanini United States	38	7.3k 1.7×	1.2k 0.5×	2.0k 0.9×	777 0.5×	343 0.3×	52	14.4k
Nigel G. Laing Australia	54	7.0k 1.7×	1.3k 0.5×	606 0.3×	1.6k 1.1×	431 0.4×	326	9.6k
Lionel Van Maldergem Belgium	41	3.8k 0.9×	2.1k 0.8×	321 0.1×	834 0.5×	382 0.3×	153	6.9k

Countries citing papers authored by Virginia Kimonis

Since Specialization

Citations

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

Fields of papers citing papers by Virginia Kimonis

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Virginia Kimonis

This figure shows the co-authorship network connecting the top 25 collaborators of Virginia Kimonis. A scholar is included among the top collaborators of Virginia Kimonis 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 Virginia Kimonis. Virginia Kimonis 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

Gevers, Evelien, Jennifer Miller, Nicola Bridges, et al.. (2024). 7519 Withdrawal of DCCR (Diazoxide Choline) Extended-Release Tablets Worsens Hyperphagia and Increases Weight and BMI in a 16-week Double-blind, Placebo-controlled, Randomized Withdrawal Period in Patients with Prader Willi Syndrome. Journal of the Endocrine Society. 8(Supplement_1). 1 indexed citations

Quinn, Colin, et al.. (2023). Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1. Genes. 14(3). 676–676. 4 indexed citations

Martin, Angela, et al.. (2023). Effects of enzyme replacement therapy on bone density in late onset Pompe disease. Molecular Genetics and Metabolism. 140(3). 107644–107644. 3 indexed citations

Roy, Bhaskar, Teresinha Evangelista, Gerald Pfeffer, et al.. (2023). Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy. Annals of Clinical and Translational Neurology. 10(5). 686–695. 4 indexed citations

Pfeffer, Gerald, et al.. (2022). Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis. Genes. 13(6). 963–963. 28 indexed citations

Butler, Merlin G., Pamela Flodman, June‐Anne Gold, et al.. (2022). Molecular Classes and Growth Hormone Treatment Effects on Behavior and Emotion in Patients with Prader–Willi Syndrome. Journal of Clinical Medicine. 11(9). 2572–2572. 3 indexed citations

Butler, Merlin G., Pamela Flodman, June‐Anne Gold, et al.. (2021). Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader‐Willi syndrome: A multicenter study. Clinical Genetics. 100(1). 29–39. 9 indexed citations

Dutra‐Clarke, Marina, Anita Lakatos, Kathy Hall, et al.. (2021). Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy. Molecular Genetics and Metabolism. 132(2). S36–S36. 2 indexed citations

Osann, Kathryn, et al.. (2020). Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome. Genes. 11(11). 1250–1250. 6 indexed citations

10.

Lemmers, Richard J.L.F., Nienke van der Stoep, Patrick J. van der Vliet, et al.. (2019). SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain. Journal of Medical Genetics. 56(10). 693–700. 23 indexed citations

11.

Haanpää, Maria K., Bobby G. Ng, Natalie M. Gallant, et al.. (2019). ALG11‐CDG syndrome: Expanding the phenotype. American Journal of Medical Genetics Part A. 179(3). 498–502. 12 indexed citations

12.

Maclean, Andrew E., Virginia Kimonis, & Janneke Balk. (2018). Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica. Human Molecular Genetics. 27(21). 3697–3709. 7 indexed citations

13.

Yoshioka, Hiroshi, Anita Lakatos, Marjorie R. Grafe, et al.. (2018). Novel valosin-containing protein mutations associated with multisystem proteinopathy. Neuromuscular Disorders. 28(6). 491–501. 13 indexed citations

14.

Nalbandian, Angèle, et al.. (2014). Targeted Excision of VCP R155H Mutation by Cre- LoxP Technology as a Promising Therapeutic Strategy for Valosin-Containing Protein Disease. Human Gene Therapy Methods. 26(1). 13–24. 10 indexed citations

15.

Miller, Jennifer, Anthony P. Goldstone, June‐Anne Gold, et al.. (2011). Nutritional phases in Prader–Willi syndrome. American Journal of Medical Genetics Part A. 155(5). 1040–1049. 299 indexed citations

16.

Henkhaus, Rebecca S., Soo‐Jeong Kim, Virginia Kimonis, et al.. (2011). Methylation-Specific Multiplex Ligation-Dependent Probe Amplification and Identification of Deletion Genetic Subtypes in Prader-Willi Syndrome. Genetic Testing and Molecular Biomarkers. 16(3). 178–186. 27 indexed citations

17.

Sheen, Volney, et al.. (2010). Mutation in PQBP1 is associated with periventricular heterotopia. American Journal of Medical Genetics Part A. 152A(11). 2888–2890. 14 indexed citations

18.

Caciotti, Anna, Maria Alice Donati, Avihu Boneh, et al.. (2005). Role of ?-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. Human Mutation. 25(3). 285–292. 35 indexed citations

19.

Kovach, Margaret J., et al.. (2000). Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome. American Journal of Medical Genetics. 98(1). 92–100. 28 indexed citations

20.

Pulkkinen, Lea, et al.. (1997). Homozygous 6 Integrin Mutation in Junctional Epidermolysis Bullosa with Congenital Duodenal Atresia. Human Molecular Genetics. 6(5). 669–674. 119 indexed citations

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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