Raphael Schiffmann

24.7k total citations · 1 hit paper
290 papers, 14.5k citations indexed

About

Raphael Schiffmann is a scholar working on Physiology, Molecular Biology and Rheumatology. According to data from OpenAlex, Raphael Schiffmann has authored 290 papers receiving a total of 14.5k indexed citations (citations by other indexed papers that have themselves been cited), including 179 papers in Physiology, 119 papers in Molecular Biology and 62 papers in Rheumatology. Recurrent topics in Raphael Schiffmann's work include Lysosomal Storage Disorders Research (176 papers), Carbohydrate Chemistry and Synthesis (56 papers) and Glycogen Storage Diseases and Myoclonus (56 papers). Raphael Schiffmann is often cited by papers focused on Lysosomal Storage Disorders Research (176 papers), Carbohydrate Chemistry and Synthesis (56 papers) and Glycogen Storage Diseases and Myoclonus (56 papers). Raphael Schiffmann collaborates with scholars based in United States, Canada and France. Raphael Schiffmann's co-authors include David F. Moore, Marjo S. van der Knaap, Roscoe O. Brady, Markus Ries, Roscoe O. Brady, Jeffrey B. Kopp, Christine R. Kaneski, Gheona Altarescu, Howard A. Austin and James E. Balow and has published in prestigious journals such as Proceedings of the National Academy of Sciences, The Lancet and JAMA.

In The Last Decade

Raphael Schiffmann

282 papers receiving 14.1k 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.

Enzyme Replacement Therapy in Fabry Disease

2001 1.0k citations Raphael Schiffmann, Jeffrey B. Kopp et al. profile →

Peers — A (Enhanced Table)

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

Name	h						Papers	Cites
Raphael Schiffmann United States	69	8.6k	5.6k	3.8k	3.3k	2.5k	290	14.5k
John J. Hopwood Australia	61	9.7k 1.1×	4.3k 0.8×	4.0k 1.1×	4.4k 1.3×	2.4k 1.0×	377	14.1k
Edwin H. Kolodny United States	50	5.4k 0.6×	2.9k 0.5×	2.1k 0.6×	1.8k 0.5×	1.1k 0.4×	202	9.0k
Gregory A. Grabowski United States	63	9.2k 1.1×	5.7k 1.0×	5.1k 1.3×	2.6k 0.8×	465 0.2×	261	13.6k
Marie T. Vanier France	54	6.8k 0.8×	2.7k 0.5×	1.7k 0.4×	1.6k 0.5×	871 0.4×	141	9.3k
David A. Wenger United States	55	6.4k 0.7×	4.1k 0.7×	2.0k 0.5×	1.8k 0.5×	525 0.2×	221	9.2k
Nina Raben United States	52	4.1k 0.5×	3.1k 0.6×	1000 0.3×	2.7k 0.8×	2.4k 1.0×	115	8.1k
Ellen Sidransky United States	59	9.0k 1.0×	3.4k 0.6×	6.0k 1.6×	1.8k 0.6×	392 0.2×	235	12.5k
Wuh‐Liang Hwu Taiwan	47	4.1k 0.5×	3.2k 0.6×	748 0.2×	1.3k 0.4×	2.2k 0.9×	394	8.9k
Katherine B. Sims United States	46	3.1k 0.4×	2.8k 0.5×	1.1k 0.3×	1.1k 0.3×	890 0.4×	117	6.9k
Bruno Bembi Italy	43	4.2k 0.5×	1.4k 0.2×	1.5k 0.4×	1.2k 0.4×	955 0.4×	133	5.4k

Countries citing papers authored by Raphael Schiffmann

Since Specialization

Citations

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

Fields of papers citing papers by Raphael Schiffmann

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Raphael Schiffmann

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

Schiffmann, Raphael, James Turnbull, Ruth Pulikottil-Jacob, et al.. (2025). Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment. Orphanet Journal of Rare Diseases. 20(1). 171–171. 1 indexed citations

Soler‐Alfonso, Claudia, Ariana L. Smith, Deeksha Bali, et al.. (2023). Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource. Molecular Genetics and Metabolism. 138(3). 107525–107525. 21 indexed citations

Dabrowska‐Schlepp, Paulina, Andreas Büsch, Jin‐Song Shen, et al.. (2023). Comparison of efficacy between subcutaneous and intravenous application of moss‐aGal in the mouse model of Fabry disease. JIMD Reports. 64(6). 460–467. 3 indexed citations

Koch, Rebecca E., Claudia Soler‐Alfonso, Bridget Kiely, et al.. (2023). O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV*. SHILAP Revista de lepidopterología. 1(1). 100114–100114. 1 indexed citations

Knaap, Marjo S. van der, Joshua L. Bonkowsky, Adeline Vanderver, et al.. (2022). Therapy Trial Design in Vanishing White Matter. Neurology Genetics. 8(2). e657–e657. 11 indexed citations

Zerem, Ayelet, Liat Ben‐Sira, Z. Leibovitz, et al.. (2021). White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology. Metabolic Brain Disease. 36(7). 2155–2167. 8 indexed citations

Tian, Weihua, Zilu Ye, Shengjun Wang, et al.. (2019). The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells. Nature Communications. 10(1). 1785–1785. 50 indexed citations

Curiel, Julian, Guillermo Rodríguez Bey, Asako Takanohashi, et al.. (2017). TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes. Human Molecular Genetics. 26(22). 4506–4518. 53 indexed citations

Asadollahi, Reza, Markus Zweier, Raphael Schiffmann, et al.. (2017). Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. European Journal of Medical Genetics. 60(9). 451–464. 32 indexed citations

10.

Prange, Lyndsey, Vandana Shashi, Kristin Herman, et al.. (2017). D-DEMO, A Novel and Distinct Phenotype Caused by ATP1A3 Mutations (P4.157). Neurology. 88(16_supplement). 1 indexed citations

11.

Agosta, Guillermo, William Benko, Jens C. Eickhoff, et al.. (2015). CSF and Blood Levels of GFAP in Alexander Disease. eNeuro. 2(5). ENEURO.0080–15.2015. 31 indexed citations

12.

Kakhlon, Or, Jorida Çoku, Lorenzo Peverelli, et al.. (2015). An exon trap with proper poly-A site in the GBE1 is the common missing cause in Adult Polyglucosan Body Disease (S42.006). Neurology. 84(14_supplement). 1 indexed citations

13.

Parini, Rossella, Raphael Schiffmann, Iain Fotheringham, & Lora Todorova. (2015). A Systematic Review of The Humanistic Burden of Disease In Patients With Fabry Disease. Value in Health. 18(7). A762–A762. 2 indexed citations

14.

Tétreault, Martine, Karine Choquet, Simona Orcesi, et al.. (2011). Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy. The American Journal of Human Genetics. 89(5). 652–655. 110 indexed citations

15.

Wu, Xiaoyang, Evan Katz, Maria Cecilia Della Valle, et al.. (2011). A pharmacogenetic approach to identify mutant forms of α‐galactosidase a that respond to a pharmacological chaperone for Fabry disease. Human Mutation. 32(8). 965–977. 65 indexed citations

16.

Mochel, Fanny, Catherine Sarret, Éléonore Eymard-Pierre, et al.. (2010). Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1802(11). 1112–1117. 15 indexed citations

17.

Park, Joseph K., Eduard Orviský, Nahid Tayebi, et al.. (2003). Myoclonic Epilepsy in Gaucher Disease: Genotype-Phenotype Insights from a Rare Patient Subgroup. Pediatric Research. 53(3). 387–395. 71 indexed citations

18.

Frei, Karen & Raphael Schiffmann. (2002). Myoclonus in Gaucher disease.. PubMed. 89. 41–8. 9 indexed citations

19.

Branton, Mary H., Raphael Schiffmann, Sharda G. Sabnis, et al.. (2002). Natural History of Fabry Renal Disease. Medicine. 81(2). 122–138. 352 indexed citations

20.

Wong, K., Regina C. Armstrong, Kymberly A. Gyure, et al.. (2000). Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome. Acta Neuropathologica. 100(6). 635–646. 78 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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