Simon Edvardson

ScholarGPS® ID: 89950596150010

Affiliation

Hebrew University of Jerusalem, Jerusalem and Rehovot, Israel

Affiliation History

Field

Medicine

Discipline

Pediatrics

Top Specialties

Metrics Summary

Publication Count

107

Predicted Citations

6,189

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy (journal article) Abela, Lucia \| Gianfrancesco, Lorita \| Tagliatti, Erica \| Rossignoli, Giada \| Barwick, Katy \| Zourray, Clara \| Reid, Kimberley M \| Budinger, Dimitri \| Ng, Joanne \| Counsell, John \| ... \| Kurian, Manju A Brain, volume 147, issue 6, pages 2023-2037 (2024). 10.1093/brain/awae020 Cite \| Source
WiTNNess : An international natural history study of infantile‐onset TNNT1 myopathy (journal article) Strauss, Kevin A. \| Carson, Vincent J. \| Bolettieri, Emilienne \| Everett, Mariah \| Bollinger, Ashton \| Bowser, Lauren E. \| Beiler, Keturah \| Young, Millie \| Edvardson, Simon \| Fraenkel, Nitay \| ... \| Brigatti, Karlla W. Annals of Clinical and Translational Neurology, volume 10, issue 11, pages 1972-1984 (2023). 10.1002/acn3.51884 Cite \| Source
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation (journal article) O’Neill, Audrey G. \| Burrell, Anika L. \| Zech, Michael \| Elpeleg, Orly \| Harel, Tamar \| Edvardson, Simon \| Mor-Shaked, Hagar \| Rippert, Alyssa L. \| Nomakuchi, Tomoki \| Izumi, Kosuke \| Kollman, Justin M. Journal of Biological Chemistry, volume 299, issue 8, pages 105012- (2023). 10.1016/j.jbc.2023.105012 Cited by (2) \| Cite \| Source
Nociception and pain in humans lacking a functional TRPV1 channel (journal article) Katz, Ben \| Zaguri, Rachel \| Edvardson, Simon \| Maayan, Channa \| Elpeleg, Orly \| Lev, Shaya \| Davidson, Elyad \| Peters, Maximilian \| Kfir-Erenfeld, Shlomit \| Berger, Esther \| ... \| Minke, Baruch Journal of Clinical Investigation, volume 133, issue 3 (2023). 10.1172/JCI153558 Cited by (21) \| Cite \| Source
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity (journal article) Ezer, Shlomit \| Daana, Muhannad \| Park, Julien H \| Yanovsky-Dagan, Shira \| Nordström, Ulrika \| Basal, Adily \| Edvardson, Simon \| Saada, Ann \| Otto, Markus \| Meiner, Vardiella \| ... \| Harel, Tamar Brain, volume 145, issue 3, pages 872-878 (2022). 10.1093/brain/awab416 Cited by (12) \| Cite \| Source
A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System (journal article) Confino, Shir \| Dor, Talya \| Tovin, Adi \| Wexler, Yair \| Ben-Moshe Livne, Zohar \| Kolker, Michaela \| Pisanty, Odelia \| Park, Sohyun Kathy \| Geyer, Nathalie \| Reiter, Joel \| ... \| Gothilf, Yoav International Journal of Molecular Sciences, volume 23, issue 4, pages 2373- (2022). 10.3390/ijms23042373 Cited by (3) \| Cite \| Source
Macrophage migration inhibitory factor in Nodding syndrome (journal article) Benedek, Gil \| Abed El Latif, Mahmoud \| Miller, Keren \| Rivkin, Mila \| Ahmed Ramadhan Lasu, Ally \| P. Riek, Lul \| Lako, Richard \| Edvardson, Shimon \| Arbel-Alon, Sagit \| Galun, Eithan \| Levite, Mia PLOS Neglected Tropical Diseases, volume 15, issue 10, pages e0009821- (2021). 10.1371/journal.pntd.0009821 Cited by (3) \| Cite \| Source
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy (journal article) Nasca, Alessia \| Di Meo, Ivano \| Fellig, Yakov \| Saada, Ann \| Elpeleg, Orly \| Ghezzi, Daniele \| Edvardson, Shimon Journal of Human Genetics, volume 66, issue 8, pages 835-840 (2021). 10.1038/s10038-020-00897-4 Cited by (3) \| Cite \| Source
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations (journal article) Roux, Charles-Joris \| Barcia, Giulia \| Schiff, Manuel \| Sissler, Marie \| Levy, Raphaël \| Dangouloff-Ros, Volodia \| Desguerre, Isabelle \| Edvardson, Shimon \| Elpeleg, Orli \| Rötig, Agnès \| ... \| Boddaert, Nathalie Molecular Genetics and Metabolism, volume 133, issue 2, pages 222-229 (2021). 10.1016/j.ymgme.2021.04.004 Cited by (14) \| Cite \| Source
Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families (journal article) Fattal-Valevski, Aviva \| Ben Sira, Liat \| Lerman-Sagie, Tally \| Strausberg, Rachel \| Bloch-Mimouni, Aviva \| Edvardson, Simon \| Kaufman, Rami \| Chernuha, Veronika \| Schneebaum Sender, Nira \| Heimer, Gali \| Ben Zeev, Bruria European Journal of Paediatric Neurology, volume 32 (2021). 10.1016/j.ejpn.2020.08.011 Cited by (2) \| Cite \| Source
Dual-Targeted Autoimmune Sword in Fatal Epilepsy: Patient's glutamate receptor AMPA GluR3B peptide autoimmune antibodies bind, induce Reactive Oxygen Species (ROS) in, and kill both human neural cells and T cells (journal article) Levite, Mia \| Zelig, Daniel \| Friedman, Alon \| Ilouz, Nili \| Eilam, Raya \| Bromberg, Zohar \| Ramadhan Lasu, Ally Ahmed \| Arbel-Alon, Sagit \| Edvardson, Shimon \| Tarshish, Mark \| ... \| Galun, Eithan Journal of Autoimmunity, volume 112 (2020). 10.1016/j.jaut.2020.102462 Cited by (15) \| Cite \| Source
Protection or susceptibility to devastating childhood epilepsy: Nodding Syndrome associates with immunogenetic fingerprints in the HLA binding groove (journal article) Benedek, Gil \| Abed El Latif, Mahmoud \| Miller, Keren \| Rivkin, Mila \| Ramadhan Lasu, Ally Ahmed \| Riek, Lul P. \| Lako, Richard \| Edvardson, Shimon \| Alon, Sagit-Arbel \| Galun, Eithan \| Levite, Mia PLOS Neglected Tropical Diseases, volume 14, issue 7, pages e0008436- (2020). 10.1371/journal.pntd.0008436 Cited by (16) \| Cite \| Source
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features (journal article) Abu-Libdeh, Bassam \| Ashhab, Motee \| Shahrour, Maher \| Daana, Muhannad \| Dudin, Anwar \| Elpeleg, Orly \| Edvardson, Simon \| Harel, Tamar neurogenetics, volume 20, issue 4, pages 209-213 (2019). 10.1007/s10048-019-00583-4 Cited by (8) \| Cite \| Source
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy (journal article) Sheffer, Ruth \| Gur, Michal \| Brooks, Rebecca \| Salah, Somaya \| Daana, Muhannad \| Fraenkel, Nitay \| Eisenstein, Eli \| Rabie, Malcolm \| Nevo, Yoram \| Jalas, Chaim \| ... \| Harel, Tamar European Journal of Human Genetics, volume 27, issue 9, pages 1419-1426 (2019). 10.1038/s41431-019-0400-y Cited by (25) \| Cite \| Source
Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy (journal article) Fichtman, Boris \| Harel, Tamar \| Biran, Nitzan \| Zagairy, Fadia \| Applegate, Carolyn D. \| Salzberg, Yuval \| Gilboa, Tal \| Salah, Somaya \| Shaag, Avraham \| Simanovsky, Natalia \| ... \| Edvardson, Simon The American Journal of Human Genetics, volume 105, issue 1, pages 48-64 (2019). 10.1016/j.ajhg.2019.05.003 Cited by (26) \| Cite \| Source
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive (journal article) Edvardson, Simon \| Nicolae, Claudia M. \| Noh, Grace J. \| Burton, Jennifer E. \| Punzi, Giuseppe \| Shaag, Avraham \| Bischetsrieder, Jessica \| De Grassi, Anna \| Pierri, Ciro Leonardo \| Elpeleg, Orly \| Moldovan, George-Lucian The American Journal of Human Genetics, volume 104, issue 1, pages 179-185 (2019). 10.1016/j.ajhg.2018.11.018 Cited by (13) \| Cite \| Source
Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination (journal article) Harel, Tamar \| Quek, Debra Q. Y. \| Wong, Bernice H. \| Cazenave-Gassiot, Amaury \| Wenk, Markus R. \| Fan, Hao \| Berger, Itai \| Shmueli, Dorit \| Shaag, Avraham \| Silver, David L. \| ... \| Edvardson, Shimon neurogenetics, volume 19, issue 4, pages 227-235 (2018). 10.1007/s10048-018-0556-6 Cited by (40) \| Cite \| Source
A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency (journal article) van Diepen, Laura \| Buettner, Falk F. R. \| Hoffmann, Dirk \| Thiesler, Christina T. \| von Bohlen und Halbach, Oliver \| von Bohlen und Halbach, Viola \| Jensen, Lars R. \| Steinemann, Doris \| Edvardson, Simon \| Elpeleg, Orly \| ... \| Kuss, Andreas W. European Journal of Human Genetics, volume 26, issue 12, pages 1773-1783 (2018). 10.1038/s41431-018-0220-5 Cited by (14) \| Cite \| Source
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations (journal article) Assoum, Mirna \| Lines, Matthew A. \| Elpeleg, Orly \| Darmency, Véronique \| Whiting, Sharon \| Edvardson, Simon \| Devinsky, Orrin \| Heinzen, Erin \| Hernan, Rebecca Rose \| Antignac, Corinne \| ... \| Faivre, Laurence American Journal of Medical Genetics Part A, volume 176, issue 11, pages 2470-2478 (2018). 10.1002/ajmg.a.40357 Cited by (19) \| Cite \| Source
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling (journal article) Asadollahi, Reza \| Strauss, Justin E \| Zenker, Martin \| Beuing, Oliver \| Edvardson, Simon \| Elpeleg, Orly \| Strom, Tim M \| Joset, Pascal \| Niedrist, Dunja \| Otte, Christine \| ... \| Rauch, Anita European Journal of Human Genetics, volume 26, issue 2, pages 197-209 (2018). 10.1038/s41431-017-0019-9 Cited by (21) \| Cite \| Source \| Open Access