Shimon Edvardson

Affiliations

Department of Pediatrics, Neurology Unit, Hadassah Hebrew University Hospital, Jerusalem, Israel.

Publications (22)

Nociception and pain in humans lacking a functional TRPV1 channel.

The Journal of clinical investigation

Avec: Ben Katz , Rachel Zaguri , Simon Edvardson , Channa Maayan , Orly Elpeleg , Shaya Lev , Elyad Davidson , Maximilian Peters , Shlomit Kfir-Erenfeld , Esther Berger , Shifa Ghazalin , Alexander M Binshtok , Baruch Minke

WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.

Annals of clinical and translational neurology

Avec: Kevin A Strauss , Vincent J Carson , Emilienne Bolettieri , Mariah Everett , Ashton Bollinger , Lauren E Bowser , Keturah Beiler , Millie Young , Simon Edvardson , Nitay Fraenkel , Adele D'Amico , Enrico Bertini , Lokesh Lingappa , Devyani Chowdhury , Linda P Lowes , Megan Iammarino , Lindsay N Alfano , Karlla W Brigatti

Protection or susceptibility to devastating childhood epilepsy: Nodding Syndrome associates with immunogenetic fingerprints in the HLA binding groove.

PLoS neglected tropical diseases

Avec: Gil Benedek , Mahmoud Abed El Latif , Keren Miller , Mila Rivkin , Ally Ahmed Ramadhan Lasu , Lul P Riek , Richard Lako , Shimon Edvardson , Sagit-Arbel Alon , Eithan Galun , Mia Levite

Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.

Brain : a journal of neurology

Avec: Lucia Abela , Lorita Gianfrancesco , Erica Tagliatti , Giada Rossignoli , Katy Barwick , Clara Zourray , Kimberley M Reid , Dimitri Budinger , Joanne Ng , John Counsell , Arlo Simpson , Toni S Pearson , Simon Edvardson , Orly Elpeleg , Frances M Brodsky , Gabriele Lignani , Serena Barral , Manju A Kurian

A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopment.

Genome biology

Avec: Xiaolin Lin , Wei Wang , Mingyi Yang , Nadirah Damseh , Mirta Mittelstedt Leal de Sousa , Fadi Jacob , Anna Lång , Elise Kristiansen , Marco Pannone , Miroslava Kissova , Runar Almaas , Anna Kuśnierczyk , Richard Siller , Maher Shahrour , Motee Al-Ashhab , Bassam Abu-Libdeh , Wannan Tang , Geir Slupphaug , Orly Elpeleg , Stig Ove Bøe , Lars Eide , Gareth J Sullivan , Johanne Egge Rinholm , Hongjun Song , Guo-Li Ming , Barbara van Loon , Simon Edvardson , Jing Ye , Magnar Bjørås

Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features.

Neurogenetics

Avec: Bassam Abu-Libdeh , Motee Ashhab , Maher Shahrour , Muhannad Daana , Anwar Dudin , Orly Elpeleg , Simon Edvardson , Tamar Harel

Macrophage migration inhibitory factor in Nodding syndrome.

PLoS neglected tropical diseases

Avec: Gil Benedek , Mahmoud Abed El Latif , Keren Miller , Mila Rivkin , Ally Ahmed Ramadhan Lasu , Lul P Riek , Richard Lako , Shimon Edvardson , Sagit Arbel-Alon , Eithan Galun , Mia Levite

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.

The Journal of biological chemistry

Avec: Audrey G O'Neill , Anika L Burrell , Michael Zech , Orly Elpeleg , Tamar Harel , Simon Edvardson , Hagar Mor-Shaked , Alyssa L Rippert , Tomoki Nomakuchi , Kosuke Izumi , Justin M Kollman

A deleterious variant of INTS1 leads to disrupted sleep-wake cycles.

Disease models & mechanisms

Avec: Shir Confino , Yair Wexler , Adar Medvetzky , Yotam Elazary , Zohar Ben-Moshe , Joel Reiter , Talya Dor , Simon Edvardson , Gali Prag , Tamar Harel , Yoav Gothilf

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

Brain : a journal of neurology

Avec: Stephanie Efthymiou , Vincenzo Salpietro , Nancy Malintan , Mallory Poncelet , Yamna Kriouile , Sara Fortuna , Rita De Zorzi , Katelyn Payne , Lindsay B Henderson , Andrea Cortese , Sateesh Maddirevula , Nadia Alhashmi , Sarah Wiethoff , Mina Ryten , Juan A Botia , Vincenzo Provitera , Markus Schuelke , Jana Vandrovcova , Auteur inconnu , Laurence Walsh , Erin Torti , Valeria Iodice , Maryam Najafi , Ehsan Ghayoor Karimiani , Reza Maroofian , Karine Siquier-Pernet , Nathalie Boddaert , Pascale De Lonlay , Vincent Cantagrel , Mhammed Aguennouz , Mohamed El Khorassani , Miriam Schmidts , Fowzan S Alkuraya , Simon Edvardson , Maria Nolano , Jérôme Devaux , Henry Houlden

Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.

Molecular genetics and metabolism

Avec: Charles-Joris Roux , Giulia Barcia , Manuel Schiff , Marie Sissler , Raphaël Levy , Volodia Dangouloff-Ros , Isabelle Desguerre , Shimon Edvardson , Orli Elpeleg , Agnès Rötig , Arnold Munnich , Nathalie Boddaert

Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.

Brain : a journal of neurology

Avec: Shlomit Ezer , Muhannad Daana , Julien H Park , Shira Yanovsky-Dagan , Ulrika Nordström , Adily Basal , Simon Edvardson , Ann Saada , Markus Otto , Vardiella Meiner , Stefan L Marklund , Peter Munch Andersen , Tamar Harel

A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System.

International journal of molecular sciences

Avec: Shir Confino , Talya Dor , Adi Tovin , Yair Wexler , Zohar Ben-Moshe Livne , Michaela Kolker , Odelia Pisanty , Sohyun Kathy Park , Nathalie Geyer , Joel Reiter , Shimon Edvardson , Hagar Mor-Shaked , Orly Elpeleg , Daniela Vallone , Lior Appelbaum , Nicholas S Foulkes , Yoav Gothilf

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.

Brain : a journal of neurology

Avec: Siddharth Srivastava , Hagar Mor Shaked , Kenneth Gable , Sita D Gupta , Xueyang Pan , Niranjanakumari Somashekarappa , Gongshe Han , Payam Mohassel , Marc Gotkine , Elizabeth Doney , Paula Goldenberg , Queenie K G Tan , Yi Gong , Benjamin Kleinstiver , Brian Wishart , Heidi Cope , Claudia Brito Pires , Hannah Stutzman , Rebecca C Spillmann , Auteur inconnu , Reza Sadjadi , Orly Elpeleg , Chia-Hsueh Lee , Hugo J Bellen , Simon Edvardson , Florian Eichler , Teresa M Dunn

Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Jonathan Rips , Orli Halstuk , Adina Fuchs , Ziv Lang , Tal Sido , Shiri Gershon-Naamat , Bassam Abu-Libdeh , Simon Edvardson , Somaya Salah , Oded Breuer , Mohamad Hadhud , Sharon Eden , Itamar Simon , Mordechai Slae , Nadirah S Damseh , Abdulsalam Abu-Libdeh , Marina Eskin-Schwartz , Ohad S Birk , Julia Varga , Ora Schueler-Furman , Chaggai Rosenbluh , Orly Elpeleg , Shira Yanovsky-Dagan , Hagar Mor-Shaked , Tamar Harel

A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy.

Journal of human genetics

Avec: Alessia Nasca , Ivano Di Meo , Yakov Fellig , Ann Saada , Orly Elpeleg , Daniele Ghezzi , Shimon Edvardson

Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Avec: Aviva Fattal-Valevski , Liat Ben Sira , Tally Lerman-Sagie , Rachel Strausberg , Aviva Bloch-Mimouni , Simon Edvardson , Rami Kaufman , Veronika Chernuha , Nira Schneebaum Sender , Gali Heimer , Bruria Ben Zeev

Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.

American journal of human genetics

Avec: Boris Fichtman , Tamar Harel , Nitzan Biran , Fadia Zagairy , Carolyn D Applegate , Yuval Salzberg , Tal Gilboa , Somaya Salah , Avraham Shaag , Natalia Simanovsky , Houriya Ayoubieh , Nara Sobreira , Giuseppe Punzi , Ciro Leonardo Pierri , Ada Hamosh , Orly Elpeleg , Amnon Harel , Simon Edvardson

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.

European journal of human genetics : EJHG

Avec: Ruth Sheffer , Michal Gur , Rebecca Brooks , Somaya Salah , Muhannad Daana , Nitay Fraenkel , Eli Eisenstein , Malcolm Rabie , Yoram Nevo , Chaim Jalas , Orly Elpeleg , Shimon Edvardson , Tamar Harel

Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.

American journal of human genetics

Avec: Simon Edvardson , Claudia M Nicolae , Grace J Noh , Jennifer E Burton , Giuseppe Punzi , Avraham Shaag , Jessica Bischetsrieder , Anna De Grassi , Ciro Leonardo Pierri , Orly Elpeleg , George-Lucian Moldovan

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 of autoimmunity

Avec: Mia Levite , Daniel Zelig , Alon Friedman , Nili Ilouz , Raya Eilam , Zohar Bromberg , Ally Ahmed Ramadhan Lasu , Sagit Arbel-Alon , Shimon Edvardson , Mark Tarshish , Lul P Riek , Richard Lino Lako , Benjamin Reubinoff , Mario Lebendiker , Dayana Yaish , Alexandra Stavsky , Eithan Galun

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure.

bioRxiv : the preprint server for biology

Avec: Audrey G O'Neill , Anika L Burrell , Michael Zech , Orly Elpeleg , Tamar Harel , Simon Edvardson , Hagar Mor Shaked , Alyssa L Rippert , Tomoki Nomakuchi , Kosuke Izumi , Justin M Kollman

Réseau de co-auteurs

Simon Edvardson 15 collaborations

Orly Elpeleg 13 collaborations

Tamar Harel 8 collaborations

Ally Ahmed Ramadhan Lasu 3 collaborations

Lul P Riek 3 collaborations

Eithan Galun 3 collaborations

Mia Levite 3 collaborations

Bassam Abu-Libdeh 3 collaborations

Muhannad Daana 3 collaborations

Hagar Mor-Shaked 3 collaborations

Somaya Salah 3 collaborations

Nitay Fraenkel 2 collaborations

Gil Benedek 2 collaborations

Mahmoud Abed El Latif 2 collaborations

Keren Miller 2 collaborations

Mila Rivkin 2 collaborations

Richard Lako 2 collaborations

Maher Shahrour 2 collaborations

Sagit Arbel-Alon 2 collaborations

Audrey G O'Neill 2 collaborations

Anika L Burrell 2 collaborations

Michael Zech 2 collaborations

Alyssa L Rippert 2 collaborations

Tomoki Nomakuchi 2 collaborations

Kosuke Izumi 2 collaborations

Justin M Kollman 2 collaborations

Shir Confino 2 collaborations

Yair Wexler 2 collaborations

Joel Reiter 2 collaborations

Talya Dor 2 collaborations

Yoav Gothilf 2 collaborations

None None 2 collaborations

Nathalie Boddaert 2 collaborations

Shira Yanovsky-Dagan 2 collaborations

Ann Saada 2 collaborations

Hagar Mor Shaked 2 collaborations

Avraham Shaag 2 collaborations

Giuseppe Punzi 2 collaborations

Ciro Leonardo Pierri 2 collaborations

Ben Katz 1 collaboration

Rachel Zaguri 1 collaboration

Channa Maayan 1 collaboration

Shaya Lev 1 collaboration

Elyad Davidson 1 collaboration

Maximilian Peters 1 collaboration

Shlomit Kfir-Erenfeld 1 collaboration

Esther Berger 1 collaboration

Shifa Ghazalin 1 collaboration

Alexander M Binshtok 1 collaboration

Baruch Minke 1 collaboration

Kevin A Strauss 1 collaboration

Vincent J Carson 1 collaboration

Emilienne Bolettieri 1 collaboration

Mariah Everett 1 collaboration

Ashton Bollinger 1 collaboration

Lauren E Bowser 1 collaboration

Keturah Beiler 1 collaboration

Millie Young 1 collaboration

Adele D'Amico 1 collaboration

Enrico Bertini 1 collaboration

Lokesh Lingappa 1 collaboration

Devyani Chowdhury 1 collaboration

Linda P Lowes 1 collaboration

Megan Iammarino 1 collaboration

Lindsay N Alfano 1 collaboration

Karlla W Brigatti 1 collaboration

Sagit-Arbel Alon 1 collaboration

Lucia Abela 1 collaboration

Lorita Gianfrancesco 1 collaboration

Erica Tagliatti 1 collaboration

Giada Rossignoli 1 collaboration

Katy Barwick 1 collaboration

Clara Zourray 1 collaboration

Kimberley M Reid 1 collaboration

Dimitri Budinger 1 collaboration

Joanne Ng 1 collaboration

John Counsell 1 collaboration

Arlo Simpson 1 collaboration

Toni S Pearson 1 collaboration

Frances M Brodsky 1 collaboration

Gabriele Lignani 1 collaboration

Serena Barral 1 collaboration

Manju A Kurian 1 collaboration

Xiaolin Lin 1 collaboration

Wei Wang 1 collaboration

Mingyi Yang 1 collaboration

Nadirah Damseh 1 collaboration

Mirta Mittelstedt Leal de Sousa 1 collaboration

Fadi Jacob 1 collaboration

Anna Lång 1 collaboration

Elise Kristiansen 1 collaboration

Marco Pannone 1 collaboration

Miroslava Kissova 1 collaboration

Runar Almaas 1 collaboration

Anna Kuśnierczyk 1 collaboration

Richard Siller 1 collaboration

Motee Al-Ashhab 1 collaboration

Wannan Tang 1 collaboration

Geir Slupphaug 1 collaboration

Stig Ove Bøe 1 collaboration

Lars Eide 1 collaboration

Gareth J Sullivan 1 collaboration

Johanne Egge Rinholm 1 collaboration

Hongjun Song 1 collaboration

Guo-Li Ming 1 collaboration

Barbara van Loon 1 collaboration

Jing Ye 1 collaboration

Magnar Bjørås 1 collaboration

Motee Ashhab 1 collaboration

Anwar Dudin 1 collaboration

Adar Medvetzky 1 collaboration

Yotam Elazary 1 collaboration

Zohar Ben-Moshe 1 collaboration

Gali Prag 1 collaboration

Stephanie Efthymiou 1 collaboration

Vincenzo Salpietro 1 collaboration

Nancy Malintan 1 collaboration

Mallory Poncelet 1 collaboration

Yamna Kriouile 1 collaboration

Sara Fortuna 1 collaboration

Rita De Zorzi 1 collaboration

Katelyn Payne 1 collaboration

Lindsay B Henderson 1 collaboration

Andrea Cortese 1 collaboration

Sateesh Maddirevula 1 collaboration

Nadia Alhashmi 1 collaboration

Sarah Wiethoff 1 collaboration

Mina Ryten 1 collaboration

Juan A Botia 1 collaboration

Vincenzo Provitera 1 collaboration

Markus Schuelke 1 collaboration

Jana Vandrovcova 1 collaboration

Laurence Walsh 1 collaboration

Erin Torti 1 collaboration

Valeria Iodice 1 collaboration

Maryam Najafi 1 collaboration

Ehsan Ghayoor Karimiani 1 collaboration

Reza Maroofian 1 collaboration

Karine Siquier-Pernet 1 collaboration

Pascale De Lonlay 1 collaboration

Vincent Cantagrel 1 collaboration

Mhammed Aguennouz 1 collaboration

Mohamed El Khorassani 1 collaboration

Miriam Schmidts 1 collaboration

Fowzan S Alkuraya 1 collaboration

Maria Nolano 1 collaboration

Jérôme Devaux 1 collaboration

Henry Houlden 1 collaboration

Charles-Joris Roux 1 collaboration

Giulia Barcia 1 collaboration

Manuel Schiff 1 collaboration

Marie Sissler 1 collaboration

Raphaël Levy 1 collaboration

Volodia Dangouloff-Ros 1 collaboration

Isabelle Desguerre 1 collaboration

Orli Elpeleg 1 collaboration

Agnès Rötig 1 collaboration

Arnold Munnich 1 collaboration

Shlomit Ezer 1 collaboration

Julien H Park 1 collaboration

Ulrika Nordström 1 collaboration

Adily Basal 1 collaboration

Markus Otto 1 collaboration

Vardiella Meiner 1 collaboration

Stefan L Marklund 1 collaboration

Peter Munch Andersen 1 collaboration

Adi Tovin 1 collaboration

Zohar Ben-Moshe Livne 1 collaboration

Michaela Kolker 1 collaboration

Odelia Pisanty 1 collaboration

Sohyun Kathy Park 1 collaboration

Nathalie Geyer 1 collaboration

Daniela Vallone 1 collaboration

Lior Appelbaum 1 collaboration

Nicholas S Foulkes 1 collaboration

Siddharth Srivastava 1 collaboration

Kenneth Gable 1 collaboration

Sita D Gupta 1 collaboration

Xueyang Pan 1 collaboration

Niranjanakumari Somashekarappa 1 collaboration

Gongshe Han 1 collaboration

Payam Mohassel 1 collaboration

Marc Gotkine 1 collaboration

Elizabeth Doney 1 collaboration

Paula Goldenberg 1 collaboration

Queenie K G Tan 1 collaboration

Yi Gong 1 collaboration

Benjamin Kleinstiver 1 collaboration

Brian Wishart 1 collaboration

Heidi Cope 1 collaboration

Claudia Brito Pires 1 collaboration

Hannah Stutzman 1 collaboration

Rebecca C Spillmann 1 collaboration

Reza Sadjadi 1 collaboration

Chia-Hsueh Lee 1 collaboration

Hugo J Bellen 1 collaboration

Florian Eichler 1 collaboration

Teresa M Dunn 1 collaboration

Jonathan Rips 1 collaboration

Orli Halstuk 1 collaboration

Adina Fuchs 1 collaboration

Ziv Lang 1 collaboration

Tal Sido 1 collaboration

Shiri Gershon-Naamat 1 collaboration

Oded Breuer 1 collaboration

Mohamad Hadhud 1 collaboration

Sharon Eden 1 collaboration

Itamar Simon 1 collaboration

Mordechai Slae 1 collaboration

Nadirah S Damseh 1 collaboration

Abdulsalam Abu-Libdeh 1 collaboration

Marina Eskin-Schwartz 1 collaboration

Ohad S Birk 1 collaboration

Julia Varga 1 collaboration

Ora Schueler-Furman 1 collaboration

Chaggai Rosenbluh 1 collaboration

Alessia Nasca 1 collaboration

Ivano Di Meo 1 collaboration

Yakov Fellig 1 collaboration

Daniele Ghezzi 1 collaboration

Aviva Fattal-Valevski 1 collaboration

Liat Ben Sira 1 collaboration

Tally Lerman-Sagie 1 collaboration

Rachel Strausberg 1 collaboration

Aviva Bloch-Mimouni 1 collaboration

Rami Kaufman 1 collaboration

Veronika Chernuha 1 collaboration

Nira Schneebaum Sender 1 collaboration

Gali Heimer 1 collaboration

Bruria Ben Zeev 1 collaboration

Boris Fichtman 1 collaboration

Nitzan Biran 1 collaboration

Fadia Zagairy 1 collaboration

Carolyn D Applegate 1 collaboration

Yuval Salzberg 1 collaboration

Tal Gilboa 1 collaboration

Natalia Simanovsky 1 collaboration

Houriya Ayoubieh 1 collaboration

Nara Sobreira 1 collaboration

Ada Hamosh 1 collaboration

Amnon Harel 1 collaboration

Ruth Sheffer 1 collaboration

Michal Gur 1 collaboration

Rebecca Brooks 1 collaboration

Eli Eisenstein 1 collaboration

Malcolm Rabie 1 collaboration

Yoram Nevo 1 collaboration

Chaim Jalas 1 collaboration

Claudia M Nicolae 1 collaboration

Grace J Noh 1 collaboration

Jennifer E Burton 1 collaboration

Jessica Bischetsrieder 1 collaboration

Anna De Grassi 1 collaboration

George-Lucian Moldovan 1 collaboration

Daniel Zelig 1 collaboration

Alon Friedman 1 collaboration

Nili Ilouz 1 collaboration

Raya Eilam 1 collaboration

Zohar Bromberg 1 collaboration

Mark Tarshish 1 collaboration

Richard Lino Lako 1 collaboration

Benjamin Reubinoff 1 collaboration

Mario Lebendiker 1 collaboration

Dayana Yaish 1 collaboration

Alexandra Stavsky 1 collaboration