Britt Johnson

1.7k total citations · 1 hit paper
40 papers, 1.0k citations indexed

About

Britt Johnson is a scholar working on Molecular Biology, Genetics and Physiology. According to data from OpenAlex, Britt Johnson has authored 40 papers receiving a total of 1.0k indexed citations (citations by other indexed papers that have themselves been cited), including 16 papers in Molecular Biology, 14 papers in Genetics and 8 papers in Physiology. Recurrent topics in Britt Johnson's work include Genomics and Rare Diseases (11 papers), Lysosomal Storage Disorders Research (8 papers) and Genomic variations and chromosomal abnormalities (6 papers). Britt Johnson is often cited by papers focused on Genomics and Rare Diseases (11 papers), Lysosomal Storage Disorders Research (8 papers) and Genomic variations and chromosomal abnormalities (6 papers). Britt Johnson collaborates with scholars based in United States, Italy and Canada. Britt Johnson's co-authors include Akihiro Ikeda, Swaroop Aradhya, Pierre‐Antoine Gourraud, Jorge R. Oksenberg, Stacy J. Caillier, Olaf A. Bodamer, Rebecca Truty, Angéla Dajnoki, Robert L. Nussbaum and Bo Chang and has published in prestigious journals such as SHILAP Revista de lepidopterología, Bioinformatics and PLoS ONE.

In The Last Decade

Britt Johnson

39 papers receiving 1.0k citations

Hit Papers

align trajectories

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.

Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

2023 78 citations Elaine Chen, Flavia M. Facio et al. JAMA Network Open profile →

Peers — A (Enhanced Table)

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

Name	h						Papers	Cites
Britt Johnson United States	17	451	277	184	135	133	40	1.0k
Laura Giardino Italy	15	654 1.5×	242 0.9×	108 0.6×	198 1.5×	240 1.8×	19	1.6k
Isabelle Thiffault United States	23	822 1.8×	482 1.7×	224 1.2×	100 0.7×	108 0.8×	65	1.4k
Tony Roscioli Australia	24	877 1.9×	769 2.8×	124 0.7×	67 0.5×	141 1.1×	85	1.7k
Richard Sandford United Kingdom	20	593 1.3×	682 2.5×	84 0.5×	228 1.7×	161 1.2×	40	2.0k
Marjolein Kriek Netherlands	19	773 1.7×	607 2.2×	63 0.3×	119 0.9×	100 0.8×	31	1.4k
A Churchill United Kingdom	23	1.0k 2.2×	263 0.9×	102 0.6×	44 0.3×	81 0.6×	53	1.8k
Encarna Guillén‐Navarro Spain	23	899 2.0×	696 2.5×	124 0.7×	38 0.3×	124 0.9×	120	1.5k
Marja Hietala Finland	17	485 1.1×	245 0.9×	180 1.0×	44 0.3×	39 0.3×	37	918
Rıza Köksal Özgül Türkiye	17	457 1.0×	194 0.7×	124 0.7×	35 0.3×	90 0.7×	69	873
Elles M. J. Boon Netherlands	19	812 1.8×	316 1.1×	304 1.7×	129 1.0×	47 0.4×	47	1.7k

Countries citing papers authored by Britt Johnson

Since Specialization

Citations

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

Fields of papers citing papers by Britt Johnson

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Britt Johnson

This figure shows the co-authorship network connecting the top 25 collaborators of Britt Johnson. A scholar is included among the top collaborators of Britt Johnson 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 Britt Johnson. Britt Johnson 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

Padigepati, Samskruthi Reddy, David Stafford, Christopher Tan, et al.. (2024). Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification. Human Genetics. 143(8). 995–1004. 3 indexed citations

Kobayashi, Yuya, Elaine Chen, Flavia M. Facio, et al.. (2024). Clinical Variant Reclassification in Hereditary Disease Genetic Testing. JAMA Network Open. 7(11). e2444526–e2444526. 5 indexed citations

Johnson, Britt, Yuya Kobayashi, Elaine Chen, et al.. (2024). O31: The landscape of variant reclassification: Learnings from over 2 million classified variants in over 3.6 million individuals. SHILAP Revista de lepidopterología. 2. 101472–101472.

Gebbia, Marinella, Jochen Weile, Roujia Li, et al.. (2024). A missense variant effect map for the human tumor-suppressor protein CHK2. The American Journal of Human Genetics. 111(12). 2675–2692. 4 indexed citations

Truty, Rebecca, Susan Rojahn, Karen Ouyang, et al.. (2023). Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals. The American Journal of Human Genetics. 110(4). 551–564. 8 indexed citations

Aradhya, Swaroop, Flavia M. Facio, Toby Manders, et al.. (2023). Applications of artificial intelligence in clinical laboratory genomics. American Journal of Medical Genetics Part C Seminars in Medical Genetics. 193(3). e32057–e32057. 28 indexed citations

Truty, Rebecca, Dianalee McKnight, Britt Johnson, et al.. (2022). Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease. Epilepsia. 63(7). e68–e73. 8 indexed citations

Daugherty, Sean C., Nicole L. Miller, Thomas O. Carpenter, et al.. (2021). Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH). Human Mutation. 43(2). 143–157. 27 indexed citations

Bowen, B.M., Rebecca Truty, Swaroop Aradhya, et al.. (2021). SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals. Frontiers in Neurology. 12. 663911–663911. 8 indexed citations

10.

Kuang, Da, Rebecca Truty, Jochen Weile, et al.. (2020). Prioritizing genes for systematic variant effect mapping. Bioinformatics. 36(22-23). 5448–5455. 8 indexed citations

11.

Quinn, Jessica, Vicki Modell, Jennifer Holle, et al.. (2020). Jeffrey’s insights: Jeffrey Modell Foundation’s global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment. Immunologic Research. 68(3). 126–134. 18 indexed citations

12.

Lacassie, Yves, Britt Johnson, Guillermo Lay‐Son, et al.. (2020). Severe SOPH syndrome due to a novel NBAS mutation in a 27‐year‐old woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades. American Journal of Medical Genetics Part A. 182(7). 1767–1775. 8 indexed citations

13.

Li, Luyuan, Ana C. Paz, Breelyn A. Wilky, et al.. (2015). Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells. PLoS ONE. 10(9). e0133813–e0133813. 87 indexed citations

14.

Bodamer, Olaf A., Britt Johnson, William C. Nichols, et al.. (2015). Peripheral ß-glucocerebrosidase enzyme activity and lipidomics in ß-glucocerebrosidase (GBA1) mutation Parkinson disease (P2.149). Neurology. 84(14_supplement). 2 indexed citations

15.

Johnson, Britt, Otto P. van Diggelen, Angéla Dajnoki, & Olaf A. Bodamer. (2013). Diagnosing Lysosomal Storage Disorders: Mucopolysaccharidosis Type II. Current Protocols in Human Genetics. 79(1). 17.14.1–17.14.9. 10 indexed citations

16.

Johnson, Britt, Hermann Mascher, Daniel Mascher, et al.. (2013). Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots. Annals of Laboratory Medicine. 33(4). 274–278. 31 indexed citations

17.

Gourraud, Pierre‐Antoine, Joseph P. McElroy, Stacy J. Caillier, et al.. (2010). Aggregation of multiple sclerosis genetic risk variants in multiple and single case families. Annals of Neurology. 69(1). 65–74. 64 indexed citations

18.

Johnson, Britt, Jane Wang, Stacy J. Caillier, et al.. (2009). Multiple sclerosis susceptibility alleles in African Americans. Genes and Immunity. 11(4). 343–350. 93 indexed citations

19.

Hirasawa, Michiru, Xinjie Xu, Terry P. Maddatu, et al.. (2007). Carbonic anhydrase related protein 8 mutation results in aberrant synaptic morphology and excitatory synaptic function in the cerebellum. Molecular and Cellular Neuroscience. 35(1). 161–170. 45 indexed citations

20.

Johnson, Britt, Sakae Ikeda, Lawrence H. Pinto, & Akihiro Ikeda. (2006). Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene. Visual Neuroscience. 23(6). 887–898. 21 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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