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 Pakistan. 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 Nancy L. Fisher 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

Peers

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

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20 of 20 papers shown

#	Work	Indexed citations
1	Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features 2024 ·Human Genetics ·Prashant Sharma, (unknown), (unknown), Thomas C. Markello, Dorothy K. Grange, Wendy J. Introne, William A. Gahl, May Christine V. Malicdan	0
2	FOXR1 regulates stress response pathways and is necessary for proper brain development 2021 ·PLoS Genetics ·(unknown), (unknown), Rui Hong, (unknown), Sheng-Yong Niu, (unknown), Lynne A. Wolfe, (unknown), Thomas C. Markello, David R. Adams, William A. Gahl, Christine S. Cheng, Uwe Beffert, Angela Ho	5
3	Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype 2019 ·PLoS Genetics ·Prashant Sharma, (unknown), Yan Lu, Thomas C. Markello, David R. Adams, Peter Steinbach, Brie K. Fuqua, (unknown), Stephen G. Kaler, Chris D. Vulpe, Gregory J. Anderson, William A. Gahl, May Christine V. Malicdan	18
4	A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings 2019 ·Genetics in Medicine ·(unknown), Anchi Wu, M. Grace Gordon, Lukas Vlahos, (unknown), Elizabeth A. Burke, May Christine V. Malicdan, David R. Adams, Cynthia J. Tifft, Camilo Toro, William A. Gahl, Thomas C. Markello	3
5	Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features 2018 ·Journal of Medical Genetics ·Angelo M. Taveira‐DaSilva, Thomas C. Markello, David E. Kleiner, Amanda M. Jones, Catherine Groden, Ellen F. Macnamara, Tadafumi Yokoyama, William A. Gahl, Bernadette R. Gochuico, Joel Moss	39
6	Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype 2018 ·American Journal of Medical Genetics Part A ·Valerie Gartner, Thomas C. Markello, Ellen F. Macnamara, Andrea De Biase, Audrey Thurm, Lisa Joseph, Alan H. Beggs, Jeremy D. Schmahmann, Gerard T. Berry, Irina Anselm, (unknown), Cynthia J. Tifft, William A. Gahl, Paul R. Lee	15
7	A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1 2016 ·Molecular Case Studies ·Eric Delpire, Lynne A. Wolfe, (unknown), Rainelli Koumangoye, (unknown), (unknown), Barbara N. Pusey, Christopher Lau, Thomas C. Markello, David R. Adams	41
8	ATP1A3 Mutation in Adult Rapid-Onset Ataxia 2016 ·PLoS ONE ·Kathleen J. Sweadner, Camilo Toro, Christopher T. Whitlow, Beverly M. Snively, Jared Cook, Laurie J. Ozelius, Thomas C. Markello, Allison Brashear	32
9	Circulating Fibrocytes as Biomarker of Prognosis in Hermansky-Pudlak Syndrome 2014 ·American Journal of Respiratory and Critical Care Medicine ·Aaron Trimble, Bernadette R. Gochuico, Thomas C. Markello, Roxanne Fischer, William A. Gahl, Jae K. Lee, Youngchul Kim, Marie D. Burdick, Robert M. Strieter, Borna Mehrad	28
10	The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience 2014 ·Genetics in Medicine ·(unknown), Murat Sincan, Thomas C. Markello, David R. Adams, Fred A. Gill, Rena A. Godfrey, Gretchen Golas, Catherine Groden, Dennis M.D. Landis, Michele Nehrebecky, Grace Park, Ariane Soldatos, Cynthia J. Tifft, Camilo Toro, Colleen E. Wahl, Lynne A. Wolfe, William A. Gahl, Cornelius F. Boerkoel	49
11	Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy 2014 ·Nature Communications ·Hongjie Yuan, Kasper B. Hansen, Jing Zhang, Tyler Mark Pierson, Thomas C. Markello, (unknown), Conisha Holloman, Gretchen Golas, David R. Adams, Cornelius F. Boerkoel, William A. Gahl, Stephen F. Traynelis	103
12	Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China 2013 ·Frontiers of Medicine ·Xiaohong Duan, Thomas C. Markello, David R. Adams, Camilo Toro, Cynthia J. Tifft, William A. Gahl, Cornelius F. Boerkoel	1
13	VAR-MD: A tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance 2012 ·Human Mutation ·Murat Sincan, Dimitre R. Simeonov, David R. Adams, Thomas C. Markello, Tyler Mark Pierson, Camilo Toro, William A. Gahl, Cornelius F. Boerkoel	25
14	PTPRF is disrupted in a patient with syndromic amastia 2011 ·BMC Medical Genetics ·(unknown), Siraprapa Tongkobpetch, Verayuth Praphanphoj, Charan Mahatumarat, (unknown), Thiti Snabboon, Thomas C. Markello, William A. Gahl, Kanya Suphapeetiporn, Vorasuk Shotelersuk	11
15	Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration 2011 ·European Journal of Human Genetics ·(unknown), Tyler Mark Pierson, Dimitre R. Simeonov, Murat Sincan, David A. Adams, Thomas C. Markello, Gretchen Golas, (unknown), Nancy F. Hansen, Praveen F. Cherukuri, Pedro Cruz, (unknown), Cynthia J. Tifft, Cornelius F. Boerkoel, William A. Gahl	44
16	Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1 2009 ·American Journal of Respiratory and Critical Care Medicine ·Farshid N. Rouhani, Mark Brantly, Thomas C. Markello, Amanda Helip‐Wooley, Kevin O’Brien, Richard A. Hess, Marjan Huizing, William A. Gahl, Bernadette R. Gochuico	56
17	Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: A role for detailed molecular analysis in complex presentations of classical diseases 2008 ·Molecular Genetics and Metabolism ·Matthew A. Deardorff, (unknown), Paige Kaplan, Pedro A. Sanchez‐Lara, Neal Sondheimer, Nancy B. Spinner, Håkon Håkonarson, Can Fıçıcıoğlu, Jaya Ganesh, Thomas C. Markello, Brett Loechelt, Dina J. Zand, Marc Yudkoff, Uta Lichter‐Konecki	19
18	Implications of Molecular Diagnostic Testing in Families with Hereditary Pancreatitis 1997 ·Genetic Testing ·Arti Pandya, X.-J. Xia, Susan H. Blanton, (unknown), Thomas C. Markello, W E Nance	4
19	Mosaic “tetrasomy” 8p: case report and review of the literature 1995 ·Clinical Genetics ·Jennifer G. Winters, Thomas C. Markello, Walter E. Nance, Colleen Jackson‐Cook	10
20	Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis. 1995 ·The Journal of Clinical Endocrinology & Metabolism ·Virginia Kimonis, James Troendle, Susan R. Rose, Meiling Yang, Thomas C. Markello, W. A. Gahl	81

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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