Simon Edvardson

6.1k citations

97 papers · 4.7k · h-index 42

Impact in

Clinical Biochemistry top 0.5%
- Metabolism and Genetic Disorders
Neurology top 2%
- Neurological diseases and metabolism

Papers in

Clinical Biochemistry 12
- Metabolism and Genetic Disorders 12
Molecular Biology 55
- Mitochondrial Function and Pathology 19
- RNA modifications and cancer 11
- ATP Synthase and ATPases Research 8
- RNA Research and Splicing 7
- RNA regulation and disease 7

Co-authors: Orly N Elpeleg (58 shared papers)Avraham Shaag (37 shared papers)Ann Saada (17 shared papers)Chaim Jalas (14 shared papers)John Moshe Gomori (6 shared papers)Shamir Zenvirt (8 shared papers)Yuval Cinnamon (4 shared papers)Itai Berger (4 shared papers)
Journals: Journal of Medical Genetics (15 papers)The American Journal of Human Genetics (14 papers)Neurogenetics (8 papers)Annals of Neurology (7 papers)European Journal of Human Genetics (6 papers)
Partner nations: Israel United States Germany

In The Last Decade

Simon Edvardson

96 papers receiving 4.6k citations

Peers

Countries citing papers authored by Simon Edvardson

Since Specialization

Citations

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

Fields of papers citing papers by Simon Edvardson

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Simon Edvardson, 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 Simon Edvardson Line = papers co-authored together Simon Edvardson links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 97 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia The American Journal of Human Genetics ·Simon Edvardson, Avraham Shaag, Olga A. Kolesnikova, John Moshe Gomori, Ivan Tarassov, Tom Einbinder, Ann Saada, Orly N Elpeleg	2007	296
2	A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism PLoS ONE ·Simon Edvardson, Yuval Cinnamon, Asaf Ta‐Shma, Avraham Shaag, Yang-In Yim, Shamir Zenvirt, Chaim Jalas, Suzanne Lesage	2012	252
3	Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA) Annals of Neurology ·Michael C. Kruer, Coro Paisán-Ruı́z, Nathalie Boddaert, Moon Young Yoon, Hiroko Hama, Allison Gregory, Alessandro Malandrini, Randall L. Woltjer	2010	192
4	Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia The American Journal of Human Genetics ·Simon Edvardson, Hiroko Hama, Avraham Shaag, John Moshe Gomori, Itai Berger, Dov Soffer, Stanley H. Korman, Ilana Taustein	2008	180
5	C6ORF66 Is an Assembly Factor of Mitochondrial Complex I The American Journal of Human Genetics ·Ann Saada, Simon Edvardson, Matan Rapoport, Avraham Shaag, Khaled Amry, Chaya Miller, Haya Lorberboum‐Galski, Orly N Elpeleg	2008	148
6	Hereditary sensory autonomic neuropathy caused by a mutation in dystonin Annals of Neurology ·Simon Edvardson, Yuval Cinnamon, Chaim Jalas, Avraham Shaag, Channa Maayan, Felicia Bliss Axelrod, Orly N Elpeleg	2012	119
7	EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia Nature Communications ·Veronika Boczonadi, Juliane S. Müller, Angela Pyle, Jennifer Munkley, Talya Dor, Jade Quartararo, Ileana Ferrero, Veronika Karcagi	2014	115
8	Natural disease course and genotype‐phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases Journal of Inherited Metabolic Disease ·Saskia Koene, Richard J. Rodenburg, Marjo van der Knaap, Michèl A.A.P. Willemsen, Wolfgang Sperl, Vincent Laugel, Elsebet Østergaard, Mark Andrew Tarnopolsky	2012	111
9	Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation Annals of Neurology ·Itai Berger, Eli Hershkovitz, Avraham Shaag, Simon Edvardson, Ann Saada, Orly N Elpeleg	2008	104
10	Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation The American Journal of Human Genetics ·Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory James Hannon, Alan Lawrence Shanske, John Moshe Gomori, Joseph Ekstein	2010	89
11	Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2 The American Journal of Human Genetics ·Ronen Spiegel, Ophry Pines, Asaf Ta‐Shma, Efrat Burak, Avraham Shaag, Jonatan Halvardson, Simon Edvardson, Muhammad Mahajna	2012	87
12	Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function American Journal of Medical Genetics Part A ·Ruth N. Sheffer, Liza Douiev, Simon Edvardson, Avraham Shaag, Khaled Tamimi, Devorah Soiferman, Vardiella Meiner, Ann Saada	2016	87
13	Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy European Journal of Human Genetics ·Ulla Najwa Abdulhag, Devorah Soiferman, Ora Schueler‐Furman, Chaya Miller, Avraham Shaag, Orly N Elpeleg, Simon Edvardson, Ann Saada	2014	86
14	A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency Journal of Medical Genetics ·Anne-Sophie Lèbre, Marlene Rio, L. Faivre d'Arcier, Déwy Vernerey, P. Landrieu, Abdelhamid Slama, Claude Jardel, P. Laforet	2010	82
15	Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission Journal of Neuromuscular Diseases ·Amina Chaouch, Vito Porcelli, Dan Cox, Simon Edvardson, Pasquale Scarcia, Anna De Grassi, Ciro Leonardo Pierri, Judith Cossins	2014	75
16	De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder The American Journal of Human Genetics ·Davor Lessel, Claudia Schob, Sébastien Küry, Margot R.F. Reijnders, Tamar Zohar Harel, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Jonas Denecke	2017	74
17	Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination Journal of Medical Genetics ·Nadirah S. Damseh, Alexandre Simonin, Chaim Jalas, Joseph A. Picoraro, Avraham Shaag, Megan T. Cho, Yaacov Barak, Julie Neidich	2015	73
18	Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy European Journal of Human Genetics ·Ronen Spiegel, Ann Saada, Jonatan Halvardson, Devorah Soiferman, Avraham Shaag, Simon Edvardson, Yoseph Horovitz, Morad Khayat	2013	73
19	tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy European Journal of Human Genetics ·Simon Edvardson, Laurence Prunetti, Aiman Arraf, Drago Haas, Jo Marie Bacusmo, Jennifer F. Hu, Asas Ta-Shma, Peter C. Dedon	2017	73
20	SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis Annals of Neurology ·Ronen Spiegel, Avraham Shaag, Simon Edvardson, Hanna Mandel, Polina Stepensky, Stavit Allon Shalev, Yoseph Horovitz, Ophry Pines	2009	72

About Simon Edvardson

Simon Edvardson is a scholar working on Clinical Biochemistry, Molecular Biology, Cell Biology, Neurology and Genetics, having authored 97 papers that have together received 4.7k indexed citations. Recurring topics across this work include Mitochondrial Function and Pathology (19 papers), Metabolism and Genetic Disorders (12 papers), RNA modifications and cancer (11 papers), Genetics and Neurodevelopmental Disorders (10 papers), ATP Synthase and ATPases Research (8 papers), RNA Research and Splicing (7 papers), RNA regulation and disease (7 papers) and Cellular transport and secretion (7 papers). The work is most often cited by research in Clinical Biochemistry (808 citations), Neurology (441 citations), Molecular Biology (2.9k citations), Cell Biology (641 citations) and Cellular and Molecular Neuroscience (695 citations). Simon Edvardson has collaborated with scholars based in Israel, United States and Germany. Frequent co-authors include Orly N Elpeleg, Avraham Shaag, Ann Saada, Chaim Jalas, John Moshe Gomori, Shamir Zenvirt, Yuval Cinnamon, Itai Berger, Asaf Ta‐Shma and Ivan Tarassov. Their work appears in journals such as Journal of Medical Genetics, The American Journal of Human Genetics, Neurogenetics, Annals of Neurology and European Journal of Human Genetics.

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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