Joshua L. Deignan

4.0k total citations · 1 hit paper
32 papers, 1.6k citations indexed

About

Joshua L. Deignan is a scholar working on Genetics, Molecular Biology and Biochemistry. According to data from OpenAlex, Joshua L. Deignan has authored 32 papers receiving a total of 1.6k indexed citations (citations by other indexed papers that have themselves been cited), including 15 papers in Genetics, 14 papers in Molecular Biology and 8 papers in Biochemistry. Recurrent topics in Joshua L. Deignan's work include Genomics and Rare Diseases (10 papers), Amino Acid Enzymes and Metabolism (7 papers) and Metabolism and Genetic Disorders (7 papers). Joshua L. Deignan is often cited by papers focused on Genomics and Rare Diseases (10 papers), Amino Acid Enzymes and Metabolism (7 papers) and Metabolism and Genetic Disorders (7 papers). Joshua L. Deignan collaborates with scholars based in United States, Belgium and France. Joshua L. Deignan's co-authors include Wayne W. Grody, Pınar Bayrak‐Toydemir, Heidi L. Rehm, Elaine Lyon, Sherri J. Bale, Jonathan S. Berg, Birgit Funke, Madhuri Hegde, Kerry K. Brown and Michael J. Friez and has published in prestigious journals such as Annals of the New York Academy of Sciences, The American Journal of Human Genetics and American Journal of Physiology-Cell Physiology.

In The Last Decade

Joshua L. Deignan

31 papers receiving 1.6k citations

Hit Papers

ACMG clinical laboratory standards for next-generation se... 2013 2026 2017 2021 2013 200 400 600
What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

  1. ACMG clinical laboratory standards for next-generation sequencing
    2013 631 citations Heidi L. Rehm, Sherri J. Bale et al. Genetics in Medicine profile →

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Joshua L. Deignan United States 18 753 685 289 198 155 32 1.6k
Shaun S. Abeysinghe United Kingdom 8 845 1.1× 1.4k 2.1× 186 0.6× 88 0.4× 156 1.0× 8 2.1k
Steven M. Harrison United States 22 1.7k 2.2× 1.5k 2.1× 443 1.5× 128 0.6× 131 0.8× 52 3.2k
Steven E. Scherer United States 19 466 0.6× 906 1.3× 276 1.0× 72 0.4× 48 0.3× 37 1.9k
Tawfeg Ben‐Omran Qatar 25 348 0.5× 608 0.9× 88 0.3× 334 1.7× 133 0.9× 62 1.4k
Bjoern Buchholz Germany 23 845 1.1× 1.1k 1.6× 416 1.4× 29 0.1× 168 1.1× 47 2.2k
Chandree L. Beaulieu Canada 20 459 0.6× 645 0.9× 93 0.3× 107 0.5× 73 0.5× 33 1.1k
Thomas C. Markello United States 28 695 0.9× 943 1.4× 93 0.3× 95 0.5× 173 1.1× 68 2.5k
Jolanta Sykut‐Cegielska Poland 24 336 0.4× 998 1.5× 78 0.3× 503 2.5× 282 1.8× 77 1.7k
Brendan C. Lanpher United States 17 465 0.6× 581 0.8× 40 0.1× 259 1.3× 109 0.7× 41 1.2k
Marta Pineda Spain 22 440 0.6× 1.0k 1.5× 543 1.9× 501 2.5× 162 1.0× 85 2.5k

Countries citing papers authored by Joshua L. Deignan

Since Specialization
Citations

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

Fields of papers citing papers by Joshua L. Deignan

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Joshua L. Deignan. 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 Joshua L. Deignan. The network helps show where Joshua L. Deignan may publish in the future.

Co-authorship network of co-authors of Joshua L. Deignan

This figure shows the co-authorship network connecting the top 25 collaborators of Joshua L. Deignan. A scholar is included among the top collaborators of Joshua L. Deignan 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 Joshua L. Deignan. Joshua L. Deignan 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.
Saeidian, Amir Hossein, Michael March, Leila Youssefian, et al.. (2024). Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants. Genetics in Medicine. 26(11). 101225–101225. 7 indexed citations
2.
Deignan, Joshua L., Anthony R. Gregg, Wayne W. Grody, et al.. (2023). Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 25(8). 100867–100867. 18 indexed citations
3.
Deignan, Joshua L., Caroline Astbury, Garry R. Cutting, et al.. (2020). CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 22(8). 1288–1295. 44 indexed citations
4.
5.
Deignan, Joshua L., Caroline Astbury, Saurav Guha, et al.. (2020). Addendum: Technical standards and guidelines for spinal muscular atrophy testing. Genetics in Medicine. 23(12). 2462–2462. 3 indexed citations
6.
Bayrak‐Toydemir, Pınar, Lora Jh Bean, Alicia Braxton, et al.. (2018). Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization. Genetics in Medicine. 21(4). 861–866. 14 indexed citations
7.
David, Karen L., Robert G. Best, Joshua L. Deignan, et al.. (2018). Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 21(4). 769–771. 85 indexed citations
8.
Arboleda, Valerie A., Yalda Afshar, Jeffrey A. Goldstein, et al.. (2018). Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis. American Journal of Medical Genetics Part A. 176(12). 2829–2834. 27 indexed citations
9.
Fernández‐Guerra, Paula, Rune Isak Dupont Birkler, Shahar Nisemblat, et al.. (2016). Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder. Frontiers in Molecular Biosciences. 3. 65–65. 37 indexed citations
10.
Deignan, Joshua L., Hane Lee, Éric Vilain, et al.. (2015). Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. European Journal of Medical Genetics. 59(2). 70–74. 6 indexed citations
11.
Kansal, Rina, Xinmin Li, Joseph Shen, et al.. (2015). An infant with MLH3 variants, FOXG1‐duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study. Genes Chromosomes and Cancer. 55(2). 131–142. 4 indexed citations
12.
Cherukuri, Durga, Joshua L. Deignan, Kingshuk Das, Wayne W. Grody, & Harvey R. Herschman. (2015). Instability of a dinucleotide repeat in the 3′‐untranslated region (UTR) of the microsomal prostaglandin E synthase‐1 (mPGES‐1) gene in microsatellite instability‐high (MSI‐H) colorectal carcinoma. Molecular Oncology. 9(7). 1252–1258. 1 indexed citations
13.
Strom, Samuel P., Hane Lee, Kingshuk Das, et al.. (2014). Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory. Genetics in Medicine. 16(7). 510–515. 95 indexed citations
14.
Rehm, Heidi L., Sherri J. Bale, Pınar Bayrak‐Toydemir, et al.. (2013). ACMG clinical laboratory standards for next-generation sequencing. Genetics in Medicine. 15(9). 733–747. 631 indexed citations breakdown →
15.
Gallant, Natalie M., Hao Tang, Lisa Feuchtbaum, et al.. (2012). Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Molecular Genetics and Metabolism. 106(1). 55–61. 44 indexed citations
16.
Quintero‐Rivera, Fabiola, Joshua L. Deignan, Wayne W. Grody, et al.. (2010). An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: Implications for the prenatal diagnosis of ornithine transcarbamylase deficiency. Molecular Genetics and Metabolism. 101(4). 413–416. 7 indexed citations
17.
Deignan, Joshua L., Peter Paul De Deyn, Stephen D. Cederbaum, et al.. (2010). Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia. Molecular Genetics and Metabolism. 100. S31–S36. 40 indexed citations
18.
Deignan, Joshua L., Stephen D. Cederbaum, & Wayne W. Grody. (2008). Contrasting features of urea cycle disorders in human patients and knockout mouse models. Molecular Genetics and Metabolism. 93(1). 7–14. 54 indexed citations
19.
Deignan, Joshua L., Lisa M. Shantz, Anthony E. Pegg, et al.. (2007). Polyamine homeostasis in arginase knockout mice. American Journal of Physiology-Cell Physiology. 293(4). C1296–C1301. 17 indexed citations
20.
Deignan, Joshua L., Simon L. Goodman, William T. O’Brien, et al.. (2006). Ornithine deficiency in the arginase double knockout mouse. Molecular Genetics and Metabolism. 89(1-2). 87–96. 56 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 Shaun S. Abeysinghe Breakdown of academic impact, for papers by Steven M. Harrison Breakdown of academic impact, for papers by Steven E. Scherer Breakdown of academic impact, for papers by Tawfeg Ben‐Omran Breakdown of academic impact, for papers by Bjoern Buchholz Breakdown of academic impact, for papers by Chandree L. Beaulieu Breakdown of academic impact, for papers by Thomas C. Markello Breakdown of academic impact, for papers by Jolanta Sykut‐Cegielska Breakdown of academic impact, for papers by Brendan C. Lanpher Breakdown of academic impact, for papers by Marta Pineda
Rankless by CCL
2026