John Bernat

1.7k citations

28 papers · 951 indexed · h-index 11

Molecular Biology
- Congenital heart defects research 3
- Genomics and Chromatin Dynamics 2
Hematology top 10%
Genetics top 10%
- Genomics and Rare Diseases 2
- Congenital Ear and Nasal Anomalies 2
Cell Biology top 10%
- Cellular transport and secretion 2
Physiology
- Lysosomal Storage Disorders Research 11
Organic Chemistry
- Carbohydrate Chemistry and Synthesis 6
Epidemiology
- Trypanosoma species research and implications 3

Co-authors: David Ginsburg Francis S. Collins Gregory E. Crawford Sean Davis Daixing Zhou Tyra G. Wolfsberg James R. Whittle Ingeborg Holt
Cited by: Molecular Biology Hematology Genetics
Journals: Molecular Genetics and Metabolism (10 papers)Genetics in Medicine (5 papers)Human Molecular Genetics (2 papers)
Partner nations: United States United Kingdom Belgium

In The Last Decade

John Bernat

27 papers receiving 906 citations

Peers

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

The 25 scholars most cited alongside John Bernat, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with John Bernat Line = papers co-authored together John Bernat links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	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 ·Derralynn Hughes,Fitri Maharani Sukma,Robert J. Hopkin,Jaya Ganesh,John Bernat,Özlem Göker-Alpan,Kathy Nicholls,Patrick Deegan,Madeleine V. Pahl,Chester B. Whitley,Michael Chen,V. Tvaskis,Katharina Schreeb	2025	1
2	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 ·Myrl Holida,Aleš Linhart,Antonio Pisani,Nicola Longo,François Eyskens,Özlem Göker-Alpan,Eric Wallace,Patrick Deegan,Camilla Tøndel,Ulla Feldt‐Rasmussen,Derralynn Hughes,Т. В. Лісова,Miles Clark,Einat Almon,Sari Alon,Raul Chertkoff,David G. Warnock,Stephen Waldek,William R. Wilcox,John Bernat	2024	6
3	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 ·John Bernat,Derralynn Hughes,Aleš Linhart,Robert J. Hopkin,Camilla Tøndel,David G. Warnock,Bonita Rup,Irene Koulinska,Rossana Rocco,Sari Alon,Raul Chertkoff,Einat Almon,Т. В. Лісова,Eric Wallace	2024	1
4	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 ·Robert J. Hopkin,Jaya Ganesh,John Bernat,Özlem Göker-Alpan,Kathy Nicholls,Madeleine V. Pahl,Patrick Deegan,Chester B. Whitley,Derralynn Hughes,V. Tvaskis,Michael Chen,Малинова Изабелла Павловна,Doç.dr. Yaşar ÖZKAN,William R. Wilcox	2024	5
5	Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease Genetics in Medicine ·Derralynn Hughes,Derlis Gonzalez,Gustavo Maegawa,John Bernat,Myrl Holida,Pilar Giraldo,Mohamed G. Atta,Raul Chertkoff,Sari Alon,Einat Almon,Rossana Rocco,Özlem Göker-Alpan	2023	20
6	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 ·Robert J. Hopkin,Jaya Ganesh,Patrick Deegan,Özlem Göker-Alpan,John Bernat,William R. Wilcox,Madeleine V. Pahl,Chester B. Whitley,Derralynn Hughes,Kathy Nicholls,V. Tvaskis,Michael Chen,Малинова Изабелла Павловна,Emma T. Bowden,Sravan Jaggumantri,Riyan Haqi Khoerul Anwar,Bernard Souberbielle,陈丹江	2023	2
7	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 ·John Bernat,Myrl Holida,Nicola Longo,Özlem Göker-Alpan,Eric Wallace,Patrick Deegan,Camilla Tøndel,François Eyskens,Ulla Feldt‐Rasmussen,Derralynn Hughes,Antonio Pisani,Rossana Rocco,Einat Almon,Sari Alon,Raul Chertkoff,David G. Warnock,Stephen Waldek,William R. Wilcox	2023	2
8	The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here? Molecular Genetics and Metabolism ·Neal J. Weinreb,Özlem Göker-Alpan,Priya S. Kishnani,Nicola Longo,T. Burrow,John Bernat,Punita Gupta,Rain Elken,Hélio Pedro,Carlos E. Prada,Divya Vats,Ravi Ramesh Pathak,敬毅廣戸,Can Fıçıcıoğlu	2022	33
9	Polygenic Infantile Juvenile Polyposis Syndrome Managed With Sirolimus and Endoscopic Polypectomy Gastroenterology Research ·Loaiza Maya,John Bernat,Riad Rahhal	2022	3
10	Presacral neuroendocrine tumors associated with the Currarino syndrome American Journal of Medical Genetics Part A ·Aaron T. Scott,Yang Seok Yoon,Terry A. Braun,Bartley Brown,Patrick Breheny,Benjamin W. Darbro,Andrew M. Bellizzi,Joseph S. Dillon,Thomas M. O’Dorisio,Bambang Setyowarno,Б К Ауэзова,John Bernat,David C. Metz,James R. Howe	2021	3
11	Genotype–phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing Pediatric Research ·Mark N. Ziats,Ayesha Ahmad,John Bernat,Rachel S. Fisher,Loredana Sasso,Mark Hannibal,Valdemar Marques,Natasha E. Weiser,Catherine E. Keegan,Kristen Lee,Tessa Marzulla,Bridget O’Connor,Shane C. Quinonez,邵琳,Zhengxia Gao,Stephanie Bielas,Nicholas Harris,Abdou SENE,Jeffrey W. Innis,Donna M. Martin	2019	25
12	Genetic analysis of CHARGE syndrome identifies overlapping molecular biology Genetics in Medicine ·暢子ガース,Anshika Srivastava,Jennifer Skidmore,John Bernat,Marsha M. Wheeler,Jessica X. Chong,Deborah A. Nickerson,Michael J. Bamshad,Margaret A. Hefner,Donna M. Martin,Stephanie Bielas	2018	33
13	Interstitial lung disease of infancy caused by a new NKX2‐1 mutation Clinical Case Reports ·Victor Roland Gold,John Bernat,Catherine E. Keegan,Ayesha Ahmad,Marc B. Hershenson,Manuel Arteta	2017	7
14	Detection of three families with GLA p.A143T mutation and low α-galactosidase levels by newborn screening for Fabry disease Molecular Genetics and Metabolism ·Sikakollu Uma,Myrl Holida,John Bernat	2017	1
15	Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes American Journal of Medical Genetics Part A ·Fan Xiong-an,Kang Jingoo,John Bernat,J.W. Inkster,Donna M. Martin,Seema R. Lalani,Ankita Patel,Rachel D. Burnside,Jeffrey W. Innis,M. Katharine Rudd	2015	49
16	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 ·Mark W. Russell,Maide Ö. Raeker,Sarah Geisler,Peedikayil E. Thomas,Radhinal Abdullah,John Bernat,Z. Li,Jeffrey W. Innis	2014	48
17	Breast fibroadenomas in the pediatric population: common and uncommon sonographic findings Pediatric Radiology ·Ramon Sanchez,Maria Ladino-Torres,John Bernat,Ángeles Sánchez-Herrero,Michael A. DiPietro	2010	38
18	Distant conserved sequences flanking endothelial-specific promoters contain tissue-specific DNase-hypersensitive sites and over-represented motifs Human Molecular Genetics ·John Bernat,Gregory E. Crawford,Aleksey Y. Ogurtsov,Francis S. Collins,David Ginsburg,Alexey S. Kondrashov	2006	19
19	Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS) Genome Research ·Gregory E. Crawford,Ingeborg Holt,James R. Whittle,Bryn D. Webb,Denise S. Tai,Sean Davis,Elliott H. Margulies,JinChun Li,John Bernat,David Ginsburg,Daixing Zhou,Shujun Luo,Thomas J. Vasicek,Mark J. Daly,Tyra G. Wolfsberg,Francis S. Collins	2005	368
20	Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex Nature Genetics ·Bin Zhang,Michael Cunningham,William C. Nichols,John Bernat,Uri Seligsohn,Steven W. Pipe,John H. McVey,Nigel Rodhes,Norma B de Bosch,Arlette Ruiz‐Sàez,Gilbert White,Edward G. D. Tuddenham,Randal J. Kaufman,David Ginsburg	2003	219

About John Bernat

John Bernat is a scholar working on Physiology, Pathology and Forensic Medicine and Physiology, having authored 28 papers that have together received 951 indexed citations. Recurring topics across this work include Lysosomal Storage Disorders Research (11 papers), Carbohydrate Chemistry and Synthesis (6 papers), Congenital heart defects research (3 papers), Trypanosoma species research and implications (3 papers), Genomics and Rare Diseases (2 papers), Genomics and Chromatin Dynamics (2 papers), Congenital Ear and Nasal Anomalies (2 papers) and Cellular transport and secretion (2 papers). The work is most often cited by research in Molecular Biology (582 citations), Hematology (94 citations) and Genetics (205 citations). John Bernat has collaborated with scholars based in United States, United Kingdom and Belgium. Frequent co-authors include David Ginsburg, Francis S. Collins, Gregory E. Crawford, Sean Davis, Daixing Zhou, Tyra G. Wolfsberg, James R. Whittle, Ingeborg Holt, Mark J. Daly and Bryn D. Webb. Their work appears in journals such as Molecular Genetics and Metabolism, Genetics in Medicine, Human Molecular Genetics, Nature Genetics and Pediatric Research.

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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