Thomas C. Markello

7.3k total citations
68 papers, 2.5k citations indexed

About

Thomas C. Markello is a scholar working on Molecular Biology, Genetics and Cell Biology. According to data from OpenAlex, Thomas C. Markello has authored 68 papers receiving a total of 2.5k indexed citations (citations by other indexed papers that have themselves been cited), including 32 papers in Molecular Biology, 25 papers in Genetics and 12 papers in Cell Biology. Recurrent topics in Thomas C. Markello's work include Genomics and Rare Diseases (12 papers), Genomic variations and chromosomal abnormalities (10 papers) and RNA modifications and cancer (9 papers). Thomas C. Markello is often cited by papers focused on Genomics and Rare Diseases (12 papers), Genomic variations and chromosomal abnormalities (10 papers) and RNA modifications and cancer (9 papers). Thomas C. Markello collaborates with scholars based in United States, Cameroon and Hungary. Thomas C. Markello's co-authors include William A. Gahl, Isa Bernardini, David R. Adams, Cornelius F. Boerkoel, Cynthia J. Tifft, Camilo Toro, Gretchen Golas, Tyler Mark Pierson, W. A. Gahl and Joseph S. Coselli and has published in prestigious journals such as New England Journal of Medicine, Journal of Biological Chemistry and Circulation.

In The Last Decade

Thomas C. Markello

66 papers receiving 2.4k citations

Author Peers

Peers are selected by citation overlap in the author's most active subfields. citations · hero ref

Author Last Decade Papers Cites
Thomas C. Markello 943 695 476 428 350 68 2.5k
Yair Anikster 1.9k 2.0× 475 0.7× 639 1.3× 634 1.5× 208 0.6× 132 4.2k
Ekaterini Tsilou 948 1.0× 245 0.4× 226 0.5× 325 0.8× 129 0.4× 36 2.2k
Majid Alfadhel 1.4k 1.4× 920 1.3× 148 0.3× 301 0.7× 94 0.3× 157 2.5k
Bjoern Buchholz 1.1k 1.2× 845 1.2× 377 0.8× 107 0.3× 250 0.7× 47 2.2k
Mansoor Sarfarazi 2.0k 2.1× 831 1.2× 341 0.7× 85 0.2× 219 0.6× 58 4.7k
Sami A. Sanjad 2.6k 2.7× 704 1.0× 259 0.5× 239 0.6× 703 2.0× 46 3.8k
May Christine V. Malicdan 1.5k 1.5× 544 0.8× 149 0.3× 158 0.4× 130 0.4× 126 2.6k
Katsuhiko Asanuma 1.5k 1.6× 668 1.0× 441 0.9× 120 0.3× 180 0.5× 89 4.0k
Christopher R. Pierson 1.1k 1.2× 440 0.6× 121 0.3× 409 1.0× 366 1.0× 103 2.9k
Steven M. Harrison 1.5k 1.6× 1.7k 2.4× 317 0.7× 285 0.7× 158 0.5× 52 3.2k

Countries citing papers authored by Thomas C. Markello

Since Specialization
Citations

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

Fields of papers citing papers by Thomas C. Markello

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Thomas C. Markello. 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 Thomas C. Markello. The network helps show where Thomas C. Markello may publish in the future.

Co-authorship network of co-authors of Thomas C. Markello

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

All Works

20 of 20 papers shown
1.
Sharma, Prashant, Thomas C. Markello, Dorothy K. Grange, et al.. (2024). Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features. Human Genetics. 143(12). 1445–1457.
2.
Markello, Charles, Charles Huang, Álex Rodríguez, et al.. (2022). A complete pedigree-based graph workflow for rare candidate variant analysis. Genome Research. 32(5). 893–903. 5 indexed citations
3.
Hong, Rui, Sheng-Yong Niu, Lynne A. Wolfe, et al.. (2021). FOXR1 regulates stress response pathways and is necessary for proper brain development. PLoS Genetics. 17(11). e1009854–e1009854. 5 indexed citations
4.
Sharma, Prashant, Yan Lu, Thomas C. Markello, et al.. (2019). Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. PLoS Genetics. 15(5). e1008143–e1008143. 18 indexed citations
5.
Wu, Anchi, M. Grace Gordon, Lukas Vlahos, et al.. (2019). A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings. Genetics in Medicine. 21(8). 1772–1780. 3 indexed citations
6.
Mashimo, Masato, Xiangning Bu, Kazumasa Aoyama, et al.. (2019). PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells. JCI Insight. 4(4). 39 indexed citations
7.
Taveira‐DaSilva, Angelo M., Thomas C. Markello, David E. Kleiner, et al.. (2018). Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features. Journal of Medical Genetics. 56(11). 778–782. 39 indexed citations
8.
Gartner, Valerie, Thomas C. Markello, Ellen F. Macnamara, et al.. (2018). Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. American Journal of Medical Genetics Part A. 176(12). 2768–2776. 15 indexed citations
9.
Delpire, Eric, Lynne A. Wolfe, Rainelli Koumangoye, et al.. (2016). A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1. Molecular Case Studies. 2(6). a001289–a001289. 41 indexed citations
10.
Ng, Bobby G., Lynne A. Wolfe, Mie Ichikawa, et al.. (2015). Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. Human Molecular Genetics. 24(11). 3050–3057. 61 indexed citations
11.
Sincan, Murat, Thomas C. Markello, David R. Adams, et al.. (2014). The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genetics in Medicine. 16(10). 741–750. 49 indexed citations
12.
Trimble, Aaron, Bernadette R. Gochuico, Thomas C. Markello, et al.. (2014). Circulating Fibrocytes as Biomarker of Prognosis in Hermansky-Pudlak Syndrome. American Journal of Respiratory and Critical Care Medicine. 190(12). 1395–1401. 28 indexed citations
13.
Yuan, Hongjie, Kasper B. Hansen, Jing Zhang, et al.. (2014). Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. Nature Communications. 5(1). 3251–3251. 103 indexed citations
14.
Sincan, Murat, Dimitre R. Simeonov, David R. Adams, et al.. (2012). VAR-MD: A tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance. Human Mutation. 33(4). 593–598. 25 indexed citations
15.
Adams, David R., Christopher E. Mason, Murat Sincan, et al.. (2012). Detecting false-positive signals in exome sequencing. Human Mutation. 33(4). 609–613. 100 indexed citations
16.
Markello, Thomas C., Sangwoo T. Han, Hannah Carlson-Donohoe, et al.. (2011). Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering. Molecular Genetics and Metabolism. 105(3). 382–389. 11 indexed citations
17.
Rouhani, Farshid N., Mark Brantly, Thomas C. Markello, et al.. (2009). Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1. American Journal of Respiratory and Critical Care Medicine. 180(11). 1114–1121. 56 indexed citations
18.
Pandya, Arti, et al.. (1997). Implications of Molecular Diagnostic Testing in Families with Hereditary Pancreatitis. Genetic Testing. 1(3). 207–211. 4 indexed citations
19.
Winters, Jennifer G., Thomas C. Markello, Walter E. Nance, & Colleen Jackson‐Cook. (1995). Mosaic “tetrasomy” 8p: case report and review of the literature. Clinical Genetics. 48(4). 195–198. 10 indexed citations
20.
Sonies, Barbara C., Evan F. Ekman, Hans C. Andersson, et al.. (1990). Swallowing Dysfunction in Nephropathic Cystinosis. New England Journal of Medicine. 323(9). 565–570. 57 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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