Timothy Hefferon

2.7k total citations
20 papers, 886 citations indexed

About

Timothy Hefferon is a scholar working on Genetics, Molecular Biology and Surgery. According to data from OpenAlex, Timothy Hefferon has authored 20 papers receiving a total of 886 indexed citations (citations by other indexed papers that have themselves been cited), including 11 papers in Genetics, 9 papers in Molecular Biology and 4 papers in Surgery. Recurrent topics in Timothy Hefferon's work include BRCA gene mutations in cancer (3 papers), Connective tissue disorders research (3 papers) and RNA and protein synthesis mechanisms (3 papers). Timothy Hefferon is often cited by papers focused on BRCA gene mutations in cancer (3 papers), Connective tissue disorders research (3 papers) and RNA and protein synthesis mechanisms (3 papers). Timothy Hefferon collaborates with scholars based in United States, United Kingdom and Costa Rica. Timothy Hefferon's co-authors include Iain McIntosh, Rosa Isela Ortiz De Luna, Jacqueline T. Hecht, Gary A. Bellus, Garry R. Cutting, Clair A. Francomano, William A. Horton, Ilkka Kaitila, Mirta A. Machado and Joshua D. Groman and has published in prestigious journals such as Proceedings of the National Academy of Sciences, Nucleic Acids Research and The American Journal of Human Genetics.

In The Last Decade

Timothy Hefferon

20 papers receiving 864 citations

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Timothy Hefferon United States 12 537 536 124 78 71 20 886
Francesca Romana Lepri Italy 18 608 1.1× 429 0.8× 85 0.7× 39 0.5× 74 1.0× 62 972
Damián Heine‐Suñer Spain 18 447 0.8× 311 0.6× 133 1.1× 63 0.8× 76 1.1× 50 879
Rossella Capolino Italy 18 449 0.8× 369 0.7× 84 0.7× 20 0.3× 92 1.3× 56 825
Christine Carlson United States 8 874 1.6× 472 0.9× 202 1.6× 99 1.3× 124 1.7× 8 1.2k
Rocío Acuña‐Hidalgo United States 7 443 0.8× 340 0.6× 50 0.4× 162 2.1× 23 0.3× 8 824
Meng‐Yin Tsai Taiwan 18 382 0.7× 246 0.5× 129 1.0× 91 1.2× 40 0.6× 23 933
Michael Marble United States 13 370 0.7× 234 0.4× 63 0.5× 29 0.4× 62 0.9× 33 636
Anita S. Kulharya United States 14 509 0.9× 452 0.8× 59 0.5× 60 0.8× 64 0.9× 31 843
Kevin Iori United States 7 354 0.7× 155 0.3× 129 1.0× 72 0.9× 47 0.7× 8 579
Shehla Mohammed United Kingdom 17 577 1.1× 456 0.9× 43 0.3× 103 1.3× 58 0.8× 24 949

Countries citing papers authored by Timothy Hefferon

Since Specialization
Citations

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

Fields of papers citing papers by Timothy Hefferon

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Timothy Hefferon

This figure shows the co-authorship network connecting the top 25 collaborators of Timothy Hefferon. A scholar is included among the top collaborators of Timothy Hefferon 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 Timothy Hefferon. Timothy Hefferon 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.
Scott, Alexandra J., Hanna M. Petrykowska, Timothy Hefferon, Valer Gotea, & Laura Elnitski. (2012). Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene. Journal of Cystic Fibrosis. 11(6). 511–517. 14 indexed citations
2.
Lappalainen, Ilkka, John Lopez, Lisa Skipper, et al.. (2012). dbVar and DGVa: public archives for genomic structural variation. Nucleic Acids Research. 41(D1). D936–D941. 174 indexed citations
3.
Bercovitch, Lionel, Ludovic Martin, Timothy Hefferon, et al.. (2011). Acquired pseudoxanthoma elasticum presenting after liver transplantation. Journal of the American Academy of Dermatology. 64(5). 873–878. 14 indexed citations
4.
Sheridan, Maria, Timothy Hefferon, Nancy Wang, et al.. (2010). CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR. Journal of Medical Genetics. 48(4). 235–241. 11 indexed citations
5.
Macaya, Daniela, et al.. (2009). A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis‐splicing of a constitutive exon. American Journal of Medical Genetics Part A. 149A(8). 1624–1627. 24 indexed citations
6.
Hefferon, Timothy, et al.. (2009). Peutz-Jeghers Syndrome -- Cancer Syndromes. 2 indexed citations
7.
Hefferon, Timothy, et al.. (2009). Familial Atypical Multiple Mole Melanoma Syndrome -- Cancer Syndromes. 3 indexed citations
8.
Hefferon, Timothy, et al.. (2009). Identifying Patients with Familial Cancer Syndromes -- Cancer Syndromes. 1 indexed citations
9.
Hefferon, Timothy, et al.. (2009). Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome -- Cancer Syndromes. 4 indexed citations
10.
Riegert‐Johnson, Douglas L., Lisa A. Boardman, Timothy Hefferon, & Maegan E. Roberts. (2009). Cancer Syndromes [Internet]. 12 indexed citations
11.
Hefferon, Timothy, et al.. (2009). Birt-Hogg-Dubé Syndrome -- Cancer Syndromes. 2 indexed citations
12.
Riegert‐Johnson, Douglas L., Daniela Macaya, Timothy Hefferon, & Lisa A. Boardman. (2008). The incidence of duplicate genetic testing. Genetics in Medicine. 10(2). 114–116. 12 indexed citations
13.
Riegert‐Johnson, Douglas L., Daniela Macaya, Timothy Hefferon, & Lisa A. Boardman. (2007). Medical Errors Related to Inappropriate Genetic Testing in Liver Transplant Patients. Genetic Testing. 11(4). 451–454. 3 indexed citations
14.
Amaral, Margarida D., Luka A. Clarke, Anabela S. Ramalho, et al.. (2004). Quantitative methods for the analysis of CFTR transcripts/splicing variants. Journal of Cystic Fibrosis. 3. 17–23. 11 indexed citations
15.
Hefferon, Timothy, et al.. (2004). A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing. Proceedings of the National Academy of Sciences. 101(10). 3504–3509. 119 indexed citations
16.
Hefferon, Timothy, Fiona Broackes-Carter, Ann Harris, & Garry R. Cutting. (2002). Atypical 5′ Splice Sites Cause CFTR Exon 9 To Be Vulnerable to Skipping. The American Journal of Human Genetics. 71(2). 294–303. 34 indexed citations
17.
Hwang, Shih‐Jen, Terri H. Beaty, Iain McIntosh, Timothy Hefferon, & Susan R. Panny. (1998). Association between homeobox-containing geneMSX1 and the occurrence of limb deficiency. American Journal of Medical Genetics. 75(4). 419–423. 34 indexed citations
18.
Hwang, Shih‐Jen, Terri H. Beaty, Iain McIntosh, Timothy Hefferon, & Susan R. Panny. (1998). Association between homeobox‐containing gene MSX1 and the occurrence of limb deficiency. American Journal of Medical Genetics. 75(4). 419–423. 4 indexed citations
19.
Bellus, Gary A., Timothy Hefferon, Rosa Isela Ortiz De Luna, et al.. (1995). Achondroplasia is defined by recurrent G380R mutations of FGFR3.. PubMed. 56(2). 368–73. 355 indexed citations
20.
Luna, Rosa Isela Ortiz De, Timothy Hefferon, Gary A. Bellus, et al.. (1994). Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4p. Human Molecular Genetics. 3(5). 787–792. 53 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.

Explore authors with similar magnitude of impact

Breakdown of academic impact, for papers by Francesca Romana Lepri Breakdown of academic impact, for papers by Damián Heine‐Suñer Breakdown of academic impact, for papers by Rossella Capolino Breakdown of academic impact, for papers by Christine Carlson Breakdown of academic impact, for papers by Rocío Acuña‐Hidalgo Breakdown of academic impact, for papers by Meng‐Yin Tsai Breakdown of academic impact, for papers by Michael Marble Breakdown of academic impact, for papers by Anita S. Kulharya Breakdown of academic impact, for papers by Kevin Iori Breakdown of academic impact, for papers by Shehla Mohammed
Rankless by CCL
2026