Meghan C. Towne

1.9k total citations
34 papers, 553 citations indexed

About

Meghan C. Towne is a scholar working on Genetics, Molecular Biology and Clinical Biochemistry. According to data from OpenAlex, Meghan C. Towne has authored 34 papers receiving a total of 553 indexed citations (citations by other indexed papers that have themselves been cited), including 19 papers in Genetics, 16 papers in Molecular Biology and 6 papers in Clinical Biochemistry. Recurrent topics in Meghan C. Towne's work include Genomics and Rare Diseases (12 papers), Metabolism and Genetic Disorders (6 papers) and Genomic variations and chromosomal abnormalities (6 papers). Meghan C. Towne is often cited by papers focused on Genomics and Rare Diseases (12 papers), Metabolism and Genetic Disorders (6 papers) and Genomic variations and chromosomal abnormalities (6 papers). Meghan C. Towne collaborates with scholars based in United States, Hong Kong and France. Meghan C. Towne's co-authors include Pankaj B. Agrawal, Alan H. Beggs, Catherine A. Brownstein, Jiahai Shi, Casie A. Genetti, Timothy W. Yu, Monica H. Wojcik, Talia S. Schwartz, Mugdha Joshi and Philippe M. Campeau and has published in prestigious journals such as SHILAP Revista de lepidopterología, PLoS ONE and The Journal of Clinical Endocrinology & Metabolism.

In The Last Decade

Meghan C. Towne

29 papers receiving 546 citations

Peers — A (Enhanced Table)

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

Name	h						Papers	Cites
Meghan C. Towne United States	15	234	201	86	71	65	34	553
Carla Bettoni Switzerland	14	253 1.1×	159 0.8×	111 1.3×	40 0.6×	22 0.3×	27	697
Bilge Volkan Salancı Türkiye	12	94 0.4×	85 0.4×	53 0.6×	69 1.0×	60 0.9×	51	464
Emiliano González‐Vioque Spain	14	437 1.9×	129 0.6×	25 0.3×	110 1.5×	37 0.6×	32	726
Ayumi Narisawa Japan	14	181 0.8×	97 0.5×	189 2.2×	65 0.9×	78 1.2×	37	1.1k
Stefanie Heilmann‐Heimbach Germany	16	344 1.5×	204 1.0×	62 0.7×	49 0.7×	41 0.6×	65	826
Manuel Pombo Spain	17	323 1.4×	261 1.3×	42 0.5×	112 1.6×	30 0.5×	50	991
Léna Damaj France	11	186 0.8×	109 0.5×	17 0.2×	61 0.9×	78 1.2×	19	479
Futoshi Yoshida Japan	16	93 0.4×	80 0.4×	42 0.5×	99 1.4×	84 1.3×	32	689
Paola Cambiaso Italy	13	205 0.9×	95 0.5×	26 0.3×	71 1.0×	23 0.4×	28	499
Gianni Guazzi Italy	13	192 0.8×	128 0.6×	34 0.4×	86 1.2×	106 1.6×	24	619

Countries citing papers authored by Meghan C. Towne

Since Specialization

Citations

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

Fields of papers citing papers by Meghan C. Towne

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Meghan C. Towne

This figure shows the co-authorship network connecting the top 25 collaborators of Meghan C. Towne. A scholar is included among the top collaborators of Meghan C. Towne 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 Meghan C. Towne. Meghan C. Towne 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

Towne, Meghan C., et al.. (2025). Impact of laboratory-driven proactive reanalysis: Reclassification to positive in 5% of initially negative or uncertain exome sequencing cases. Genetics in Medicine. 27(9). 101464–101464.

Towne, Meghan C., et al.. (2024). P644: Unlocking the code: When SpliceAI falls short in variant assessment. SHILAP Revista de lepidopterología. 2. 101550–101550.

Towne, Meghan C., et al.. (2023). How parents of children with ataxia‐telangiectasia use dynamic coping to navigate cyclical uncertainty. Journal of Genetic Counseling. 33(2). 301–313. 1 indexed citations

Shah, Yash, Wendy Alcaraz, Meghan C. Towne, et al.. (2022). Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant. British Journal of Haematology. 200(2). 222–228.

Towne, Meghan C., Mari Rossi, Jennifer M. Huang, et al.. (2022). Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher. Human Mutation. 43(6). 772–781. 4 indexed citations

Towne, Meghan C., Daniel Dykas, Armin Attar, et al.. (2022). Abstract 554: The Association Of Multiple Variants In The TNXB Gene With Vascular Aneurysms And Dissections. Arteriosclerosis Thrombosis and Vascular Biology. 42(Suppl_1). 1 indexed citations

Powis, Zöe, Meghan C. Towne, Kelly D. Farwell Hagman, et al.. (2019). Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions. Clinical Genetics. 97(2). 305–311. 21 indexed citations

Powis, Zöe, Kelly D. Farwell Hagman, Kirsten Blanco, et al.. (2019). When moments matter: Finding answers with rapid exome sequencing. Molecular Genetics & Genomic Medicine. 8(2). e1027–e1027. 9 indexed citations

VanNoy, Grace E., Meghan C. Towne, Yiping Shen, et al.. (2018). Three‐generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome. American Journal of Medical Genetics Part A. 176(3). 560–569. 11 indexed citations

10.

Wojcik, Monica H., et al.. (2018). Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities. Genetics in Medicine. 20(11). 1396–1404. 52 indexed citations

11.

Agrawal, Pankaj B., Ruobing Wang, Hongmei Lisa Li, et al.. (2017). The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations. American Journal of Respiratory Cell and Molecular Biology. 57(6). 711–720. 32 indexed citations

12.

Lo, Mindy S., Meghan C. Towne, Grace E. VanNoy, et al.. (2017). Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene. Journal of Autoimmunity. 86. 116–119. 14 indexed citations

13.

Wojcik, Monica H., Klaas J. Wierenga, Lance H. Rodan, et al.. (2017). Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Reports. 39. 45–54. 7 indexed citations

14.

Brownstein, Catherine A., Robin J. Kleiman, Elizabeth C. Engle, et al.. (2016). Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. American Journal of Medical Genetics Part A. 170(5). 1165–1173. 14 indexed citations

15.

Bairdain, Sigrid, David Zurakowski, Sara O. Vargas, et al.. (2016). Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum. Neonatology. 111(2). 140–144. 25 indexed citations

16.

Joshi, Mugdha, Irina Anselm, Jiahai Shi, et al.. (2016). Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease. Molecular Case Studies. 2(3). a000786–a000786. 31 indexed citations

17.

Morton, Sarah U., Edward Neilan, Roy W A Peake, et al.. (2016). Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants. JIMD Reports. 35. 7–15. 10 indexed citations

18.

Leeman, Kristen T., Lori Dobson, Meghan C. Towne, et al.. (2014). NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings. Journal of Perinatology. 34(5). 410–411. 5 indexed citations

19.

Joshi, Mugdha, Nirav K. Desai, Meghan C. Towne, et al.. (2014). A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. European Journal of Human Genetics. 22(10). 1229–1232. 38 indexed citations

20.

Brownstein, Catherine A., Meghan C. Towne, Lovelace J. Luquette, et al.. (2013). Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition. European Journal of Medical Genetics. 56(12). 678–682. 76 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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