Meghan C. Towne

1.9k citations

34 papers · 553 indexed · h-index 15

Co-authors: Pankaj B. Agrawal Alan H. Beggs Catherine A. Brownstein Jiahai Shi Casie A. Genetti Timothy W. Yu Monica H. Wojcik Talia S. Schwartz
Topics: Genomics and Rare Diseases (12 papers)Metabolism and Genetic Disorders (6 papers)Genomic variations and chromosomal abnormalities (6 papers)
Cited by: Clinical Biochemistry Genetics Cellular and Molecular Neuroscience
Journals: SHILAP Revista de lepidopterologíaPLoS ONE The Journal of Clinical Endocrinology & Metabolism
Partner nations: United States Hong Kong France

In The Last Decade

Meghan C. Towne

29 papers receiving 546 citations

Peers

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

#	Work	Indexed citations
1	Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing 2025 ·Genome Medicine ·(unknown),Carolyn Horton,(unknown),Meghan C. Towne,Jennifer M. Huang,Grace E. VanNoy,Steven M. Harrison,(unknown)	0
2	Impact of laboratory-driven proactive reanalysis: Reclassification to positive in 5% of initially negative or uncertain exome sequencing cases 2025 ·Genetics in Medicine ·Meghan C. Towne,Jennifer Huang,(unknown),B. Gasser,(unknown),(unknown),(unknown),Kelly Radtke,Kelly D. Farwell Hagman	0
3	P644: Unlocking the code: When SpliceAI falls short in variant assessment 2024 ·SHILAP Revista de lepidopterología ·(unknown),Meghan C. Towne,(unknown),(unknown),Carolyn Horton,Heather Zimmermann	0
4	How parents of children with ataxia‐telangiectasia use dynamic coping to navigate cyclical uncertainty 2023 ·Journal of Genetic Counseling ·(unknown),Meghan C. Towne,Rachel Epstein,(unknown),(unknown)	1
5	Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher 2022 ·Human Mutation ·Meghan C. Towne,Mari Rossi,(unknown),Jennifer M. Huang,Kelly Radtke,Wendy Alcaraz,Kelly D. Farwell Hagman,Deepali N. Shinde	4
6	Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant 2022 ·British Journal of Haematology ·Yash Shah,(unknown),(unknown),(unknown),Wendy Alcaraz,Meghan C. Towne,(unknown),Elizabeth Bhoj,Michele P. Lambert,Timothy S. Olson,Dale Frank,(unknown),Daria V. Babushok	0
7	Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions 2019 ·Clinical Genetics ·Zöe Powis,Meghan C. Towne,Kelly D. Farwell Hagman,Kirsten Blanco,Erika Palmaer,(unknown),Samin A. Sajan,Kelly Radtke,Timothy Feyma,(unknown),Sha Tang,Christos Sidiropoulos	21
8	When moments matter: Finding answers with rapid exome sequencing 2019 ·Molecular Genetics & Genomic Medicine ·Zöe Powis,Kelly D. Farwell Hagman,Kirsten Blanco,Margaret Au,John M. Graham,Kathryn Singh,Natalie M. Gallant,Linda M. Randolph,Meghan C. Towne,Jesse M. Hunter,Deepali N. Shinde,Erika Palmaer,(unknown),Sha Tang	9
9	Three‐generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome 2018 ·American Journal of Medical Genetics Part A ·(unknown),Grace E. VanNoy,Meghan C. Towne,Yiping Shen,Michael Singh,Pankaj B. Agrawal,Sharon E. Smith	11
10	Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities 2018 ·Genetics in Medicine ·Monica H. Wojcik,Talia S. Schwartz,(unknown),(unknown),Casie A. Genetti,Meghan C. Towne,Pankaj B. Agrawal	52
11	The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations 2017 ·American Journal of Respiratory Cell and Molecular Biology ·Pankaj B. Agrawal,Ruobing Wang,Hongmei Lisa Li,Klaus Schmitz‐Abe,Chantelle Simone-Roach,Jingxin Chen,Jiahai Shi,Tin Louie,Shaohu Sheng,Meghan C. Towne,Christine F. Brainson,Michael A. Matthay,Carla F. Kim,Michael J. Bamshad,Mary J. Emond,Norma P. Gerard,Thomas R. Kleyman,Craig Gérard	32
12	Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals 2017 ·JIMD Reports ·Monica H. Wojcik,Klaas J. Wierenga,Lance H. Rodan,Inderneel Sahai,Sacha Ferdinandusse,Casie A. Genetti,Meghan C. Towne,Roy W A Peake,Philip James,Alan H. Beggs,Catherine A. Brownstein,Gerard T. Berry,Pankaj B. Agrawal	7
13	Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene 2017 ·Journal of Autoimmunity ·Mindy S. Lo,Meghan C. Towne,Grace E. VanNoy,Catherine A. Brownstein,Andrew A. Lane,Talal A. Chatila,Pankaj B. Agrawal	14
14	Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum 2016 ·Neonatology ·Sigrid Bairdain,David Zurakowski,Sara O. Vargas,Nicole Stenquist,(unknown),Meghan C. Towne,David T. Miller,Russell W. Jennings,David B. Kantor,Pankaj B. Agrawal	25
15	Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease 2016 ·Molecular Case Studies ·Mugdha Joshi,Irina Anselm,Jiahai Shi,(unknown),Meghan C. Towne,Klaus Schmitz‐Abe,Laura Crowley,(unknown),Shideh Kazerounian,Kyriacos Markianos,Hart G.W. Lidov,Rebecca D. Folkerth,Vijay G. Sankaran,Pankaj B. Agrawal	31
16	SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures 2016 ·Pediatric Neurology ·(unknown),Meghan C. Towne,Phillip L. Pearl,(unknown),Casie A. Genetti,Jiahai Shi,Alan H. Beggs,Pankaj B. Agrawal,Catherine A. Brownstein	33
17	Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia 2016 ·Molecular Case Studies ·(unknown),Jacob C. Ulirsch,Rachael F. Grace,Meghan C. Towne,John Hale,Narla Mohandas,Samuel E. Lux,Pankaj B. Agrawal,Vijay G. Sankaran	8
18	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 2016 ·American Journal of Medical Genetics Part A ·Catherine A. Brownstein,Robin J. Kleiman,Elizabeth C. Engle,Meghan C. Towne,Eugene J. D’Angelo,Timothy W. Yu,Alan H. Beggs,Jonathan Picker,Jason Fogler,(unknown),(unknown),Robert R. Wolff,Yiping Shen,Va Lip,Kaya Bilgüvar,(unknown),(unknown),Kyle L. O’Donnell,Joseph Gonzalez–Heydrich	14
19	NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings 2014 ·Journal of Perinatology ·Kristen T. Leeman,Lori Dobson,Meghan C. Towne,Dmitry Dukhovny,Mugdha Joshi,Joan M. Stoler,Pankaj B. Agrawal	5
20	A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia 2014 ·European Journal of Human Genetics ·Mugdha Joshi,(unknown),Nirav K. Desai,(unknown),Meghan C. Towne,(unknown),(unknown),Sarah D. de Ferranti,Michael J. Bennett,Adam D. McIntyre,Alan H. Beggs,Gerard T. Berry,Pankaj B. Agrawal	38

About Meghan C. Towne

Meghan C. Towne is a scholar working on Clinical Biochemistry, Genetics and Molecular Biology, having authored 34 papers that have together received 553 indexed citations. Recurring topics across this work include Genomics and Rare Diseases (12 papers), Metabolism and Genetic Disorders (6 papers) and Genomic variations and chromosomal abnormalities (6 papers). The work is most often cited by research in Clinical Biochemistry (50 citations), Genetics (201 citations) and Cellular and Molecular Neuroscience (65 citations). Meghan C. Towne has collaborated with scholars based in United States, Hong Kong and France. Frequent 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, Jonathan Picker and Kerstin Kutsche. Their work appears in journals such as SHILAP Revista de lepidopterología, PLoS ONE and The Journal of Clinical Endocrinology & Metabolism.

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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