John Bernat

1.7k total citations
28 papers, 951 citations indexed

About

John Bernat is a scholar working on Physiology, Molecular Biology and Organic Chemistry. According to data from OpenAlex, John Bernat has authored 28 papers receiving a total of 951 indexed citations (citations by other indexed papers that have themselves been cited), including 13 papers in Physiology, 10 papers in Molecular Biology and 6 papers in Organic Chemistry. Recurrent topics in John Bernat's work include Lysosomal Storage Disorders Research (11 papers), Carbohydrate Chemistry and Synthesis (6 papers) and Trypanosoma species research and implications (3 papers). John Bernat is often cited by papers focused on Lysosomal Storage Disorders Research (11 papers), Carbohydrate Chemistry and Synthesis (6 papers) and Trypanosoma species research and implications (3 papers). John Bernat collaborates with scholars based in United States, United Kingdom and Belgium. John Bernat's co-authors include David Ginsburg, Francis S. Collins, Gregory E. Crawford, Ingeborg Holt, Shujun Luo, Tyra G. Wolfsberg, Daixing Zhou, Bryn D. Webb, Thomas J. Vasicek and Mark J. Daly and has published in prestigious journals such as Proceedings of the National Academy of Sciences, Nature Genetics and Genome Research.

In The Last Decade

John Bernat

27 papers receiving 906 citations

Peers — A (Enhanced Table)

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

Name	h						Papers	Cites
John Bernat United States	11	582	205	137	114	94	28	951
Kiran Batta United Kingdom	16	853 1.5×	68 0.3×	47 0.3×	130 1.1×	74 0.8×	29	1.1k
Phillip A. Doerfler United States	12	566 1.0×	272 1.3×	138 1.0×	28 0.2×	49 0.5×	20	770
Sara R. Fagerlie United States	11	842 1.4×	221 1.1×	43 0.3×	47 0.4×	59 0.6×	16	960
Eva Mejía-Ramírez Spain	10	590 1.0×	69 0.3×	50 0.4×	57 0.5×	92 1.0×	17	724
Yaron Daniely United States	10	951 1.6×	154 0.8×	43 0.3×	70 0.6×	217 2.3×	16	1.3k
Kevin Clark United Kingdom	11	913 1.6×	781 3.8×	141 1.0×	111 1.0×	96 1.0×	16	1.3k
Gillian E. Begg United States	12	547 0.9×	67 0.3×	157 1.1×	102 0.9×	50 0.5×	16	903
Luis M. Criado Spain	13	676 1.2×	83 0.4×	207 1.5×	68 0.6×	43 0.5×	18	1.0k
Wendy Magis United States	11	955 1.6×	298 1.5×	44 0.3×	27 0.2×	56 0.6×	14	1.1k
Wenhu Pi United States	18	700 1.2×	107 0.5×	30 0.2×	86 0.8×	30 0.3×	35	963

Countries citing papers authored by John Bernat

Since Specialization

Citations

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

Fields of papers citing papers by John Bernat

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of John Bernat

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

Hughes, Derralynn, Robert J. Hopkin, Jaya Ganesh, et al.. (2025). Isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Updated results from an ongoing phase 1/2 study (STAAR). Molecular Genetics and Metabolism. 144(2). 108773–108773. 1 indexed citations

Bernat, John, Derralynn Hughes, Aleš Linhart, et al.. (2024). Assessment of immunogenicity from the pegunigalsidase alfa clinical trial program: Integrated analysis of de novo and treatment-boosted anti-drug antibodies. Molecular Genetics and Metabolism. 141(2). 107771–107771. 1 indexed citations

Holida, Myrl, Aleš Linhart, Antonio Pisani, et al.. (2024). A phase III, open‐label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies. Journal of Inherited Metabolic Disease. 48(1). e12795–e12795. 6 indexed citations

Hughes, Derralynn, Derlis Gonzalez, Gustavo Maegawa, et al.. (2023). Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease. Genetics in Medicine. 25(12). 100968–100968. 20 indexed citations

Hopkin, Robert J., Jaya Ganesh, Patrick Deegan, et al.. (2023). STAAR, a phase I/II study of isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Dose escalation phase results. Molecular Genetics and Metabolism. 138(2). 107152–107152. 2 indexed citations

Bernat, John, Myrl Holida, Nicola Longo, et al.. (2023). Long-term safety and efficacy of pegunigalsidase alfa administered every 4 weeks in patients with Fabry disease: Two-year interim results from the ongoing phase 3 BRIGHT51 open-label extension study. Molecular Genetics and Metabolism. 138(2). 107027–107027. 2 indexed citations

Weinreb, Neal J., Özlem Göker-Alpan, Priya S. Kishnani, et al.. (2022). The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?. Molecular Genetics and Metabolism. 136(1). 4–21. 33 indexed citations

Bernat, John, et al.. (2022). Polygenic Infantile Juvenile Polyposis Syndrome Managed With Sirolimus and Endoscopic Polypectomy. Gastroenterology Research. 15(1). 33–38. 3 indexed citations

Scott, Aaron T., Terry A. Braun, Bartley Brown, et al.. (2021). Presacral neuroendocrine tumors associated with the Currarino syndrome. American Journal of Medical Genetics Part A. 185(5). 1582–1588. 3 indexed citations

10.

Ziats, Mark N., Ayesha Ahmad, John Bernat, et al.. (2019). Genotype–phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing. Pediatric Research. 87(4). 735–739. 25 indexed citations

11.

Holida, Myrl, John Bernat, Nicola Longo, et al.. (2019). Once every 4 weeks - 2 mg/kg of pegunigalsidase alfa for treating Fabry disease Preliminary results of a phase 3 study. Molecular Genetics and Metabolism. 126(2). S73–S73. 7 indexed citations

12.

Srivastava, Anshika, Jennifer Skidmore, John Bernat, et al.. (2018). Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Genetics in Medicine. 20(9). 1022–1029. 33 indexed citations

13.

Bernat, John, et al.. (2017). Interstitial lung disease of infancy caused by a new NKX2‐1 mutation. Clinical Case Reports. 5(6). 739–743. 7 indexed citations

14.

Holida, Myrl, et al.. (2017). Detection of three families with GLA p.A143T mutation and low α-galactosidase levels by newborn screening for Fabry disease. Molecular Genetics and Metabolism. 120(1-2). S91–S91. 1 indexed citations

15.

Bernat, John, Donna M. Martin, Seema R. Lalani, et al.. (2015). Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes. American Journal of Medical Genetics Part A. 167(11). 2664–2673. 49 indexed citations

16.

Russell, Mark W., Maide Ö. Raeker, Sarah Geisler, et al.. (2014). Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations. Human Molecular Genetics. 23(16). 4272–4284. 48 indexed citations

17.

Sanchez, Ramon, et al.. (2010). Breast fibroadenomas in the pediatric population: common and uncommon sonographic findings. Pediatric Radiology. 40(10). 1681–1689. 38 indexed citations

18.

Bernat, John, Gregory E. Crawford, Aleksey Y. Ogurtsov, et al.. (2006). Distant conserved sequences flanking endothelial-specific promoters contain tissue-specific DNase-hypersensitive sites and over-represented motifs. Human Molecular Genetics. 15(13). 2098–2105. 19 indexed citations

19.

Crawford, Gregory E., Ingeborg Holt, James R. Whittle, et al.. (2005). Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS). Genome Research. 16(1). 123–131. 368 indexed citations

20.

Zhang, Bin, Michael Cunningham, William C. Nichols, et al.. (2003). Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nature Genetics. 34(2). 220–225. 219 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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