Simon Edvardson

Simon Edvardson

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Simon Edvardson

Publications by authors named "Simon Edvardson"

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

Neurogenetics 2019 Oct 2;20(4):209-213. Epub 2019 Aug 2.

Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, POB 12000, 9112001, Jerusalem, Israel.

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http://link.springer.com/10.1007/s10048-019-00583-4
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http://dx.doi.org/10.1007/s10048-019-00583-4DOI Listing
October 2019

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

Am J Hum Genet 2019 Jul 6;105(1):48-64. Epub 2019 Jun 6.

Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91240, Israel; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2019.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612515PMC
July 2019

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

Am J Hum Genet 2019 01 27;104(1):179-185. Epub 2018 Dec 27.

Department of Biochemistry and Molecular Biology, Pennsylvania State University College of Medicine, 500 University Drive, Hershey, PA 17033, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323416PMC
January 2019

[EXOME ANALYSIS - A GAME CHANGER IN PEDIATRICS].

Harefuah 2018 Mar;157(3):188-191

Bone Marrow Transplantation Department, Hadassah, Hebrew University Medical Center, Jerusalem.

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March 2018

A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.

Am J Med Genet A 2018 01 12;176(1):92-98. Epub 2017 Nov 12.

Monique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajmg.a.38506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6190576PMC
January 2018

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.

Am J Hum Genet 2017 Aug;101(2):291-299

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2017.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544387PMC
August 2017

Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.

Neurogenetics 2017 Jul 10;18(3):135-139. Epub 2017 May 10.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10048-017-0515-7DOI Listing
July 2017

tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.

Eur J Hum Genet 2017 05 8;25(5):545-551. Epub 2017 Mar 8.

Monique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.

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http://dx.doi.org/10.1038/ejhg.2017.30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437908PMC
May 2017

Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect.

Neurogenetics 2017 04;18(2):119

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10048-017-0511-yDOI Listing
April 2017

Mutations in the phosphatidylinositol glycan C () gene are associated with epilepsy and intellectual disability.

J Med Genet 2017 03 30;54(3):196-201. Epub 2016 Sep 30.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2016-104202DOI Listing
March 2017

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.

Neuromuscul Disord 2017 Feb 24;27(2):136-140. Epub 2016 Nov 24.

Institute of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.nmd.2016.11.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5280189PMC
February 2017

Therapy with eculizumab for patients with CD59 p.Cys89Tyr mutation.

Ann Neurol 2016 Nov 19;80(5):708-717. Epub 2016 Sep 19.

Rheumatology Research Center and Department of Medicine, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ana.24770DOI Listing
November 2016

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.

J Med Genet 2016 10 12;53(10):690-6. Epub 2016 May 12.

The Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

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http://jmg.bmj.com/content/early/2016/05/12/jmedgenet-2016-1
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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2016-103922
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http://dx.doi.org/10.1136/jmedgenet-2016-103922DOI Listing
October 2016

A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.

Neurogenetics 2016 10 15;17(4):219-225. Epub 2016 Jun 15.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10048-016-0487-zDOI Listing
October 2016

PARP10 deficiency manifests by severe developmental delay and DNA repair defect.

Neurogenetics 2016 10 13;17(4):227-232. Epub 2016 Sep 13.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10048-016-0493-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096377PMC
October 2016

Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy.

J Med Genet 2016 06 20;53(6):389-96. Epub 2016 Jan 20.

The Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5068917PMC
http://dx.doi.org/10.1136/jmedgenet-2015-103457DOI Listing
June 2016

Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.

Am J Med Genet A 2016 06 17;170(6):1603-7. Epub 2016 Mar 17.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajmg.a.37624DOI Listing
June 2016

Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).

Muscle Nerve 2016 Apr 3;53(4):564-9. Epub 2015 Sep 3.

Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/mus.24885DOI Listing
April 2016

Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.

J Med Genet 2016 Feb 6;53(2):132-7. Epub 2015 Nov 6.

The Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2015-103232DOI Listing
February 2016

Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.

Neurogenetics 2016 Jan 17;17(1):25-30. Epub 2015 Nov 17.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://link.springer.com/content/pdf/10.1007%2Fs10048-015-04
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http://link.springer.com/10.1007/s10048-015-0464-y
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http://dx.doi.org/10.1007/s10048-015-0464-yDOI Listing
January 2016

A human laterality disorder caused by a homozygous deleterious mutation in MMP21.

J Med Genet 2015 Dec 1;52(12):840-7. Epub 2015 Oct 1.

Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936483PMC
December 2015

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.

Neurogenetics 2015 Jul 17;16(3):215-221. Epub 2015 Apr 17.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center Jerusalem, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10048-015-0446-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4962907PMC
July 2015

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.

Eur J Hum Genet 2015 Feb 30;23(2):159-64. Epub 2014 Apr 30.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1038/ejhg.2014.85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297913PMC
February 2015

Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene.

Neurogenetics 2015 Jan 22;16(1):23-6. Epub 2014 Oct 22.

Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10048-014-0428-7DOI Listing
January 2015

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

Eur J Hum Genet 2014 Jul 27;22(7):902-6. Epub 2013 Nov 27.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1038/ejhg.2013.269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060119PMC
July 2014

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.

Eur J Paediatr Neurol 2014 Jul 8;18(4):495-501. Epub 2014 Apr 8.

Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.03.009DOI Listing
July 2014

Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.

J Med Genet 2014 Apr 13;51(4):268-70. Epub 2014 Jan 13.

Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2013-102100DOI Listing
April 2014

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.

J Med Genet 2014 Feb 6;51(2):137-42. Epub 2013 Dec 6.

Department of Pediatrics, Neuropediatric Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2013-102012DOI Listing
February 2014

West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation.

J Med Genet 2013 Nov 28;50(11):772-5. Epub 2013 Jun 28.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2013-101752DOI Listing
November 2013

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.

J Med Genet 2013 Nov 12;50(11):733-9. Epub 2013 Sep 12.

Monique and Jacques Roboh, Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2013-101753DOI Listing
November 2013

West syndrome caused by ST3Gal-III deficiency.

Epilepsia 2013 Feb 17;54(2):e24-7. Epub 2012 Dec 17.

Monique and Jacques Roboh Department of Genetic Research, the Department of Genetic and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1111/epi.12050DOI Listing
February 2013

Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy.

J Med Genet 2013 Feb;50(2):118-23

The Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2012-101223DOI Listing
February 2013

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus.

J Med Genet 2012 Nov 5;49(11):708-12. Epub 2012 Oct 5.

Institute of Interdisciplinary Research – IRIBHM, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1136/jmedgenet-2012-101190DOI Listing
November 2012

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.

Orphanet J Rare Dis 2012 Sep 20;7:69. Epub 2012 Sep 20.

Department of Pediatrics and Pediatric Neurology, Georg August University, Robert Koch Str, 40, Göttingen, 37075, Germany.

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http://dx.doi.org/10.1186/1750-1172-7-69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3492161PMC
September 2012

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.

Epilepsia 2012 Aug 12;53(8):1436-40. Epub 2012 Jun 12.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1111/j.1528-1167.2012.03536.xDOI Listing
August 2012

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

Ann Neurol 2012 Apr;71(4):569-72

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ana.23524DOI Listing
April 2012

2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase.

Lipids Health Dis 2011 May 20;10:84. Epub 2011 May 20.

Department of Genetics and Metabolic Diseases and the Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1186/1476-511X-10-84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3107802PMC
May 2011

l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation.

Mol Genet Metab 2010 Oct-Nov;101(2-3):228-32. Epub 2010 Jul 7.

Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2010.06.021DOI Listing
January 2011

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.

Ann Neurol 2009 Sep;66(3):419-24

Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ana.21752DOI Listing
September 2009

[Referral letters to the pediatric emergency department].

Harefuah 2008 Jul;147(7):602-4, 663-4

Department of Pediatrics, Hadassah Mount Scopus, Jerusalem, Israel.

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July 2008

The unique neuroradiology of complex I deficiency due to NDUFA12L defect.

Mol Genet Metab 2008 May 3;94(1):78-82. Epub 2008 Jan 3.

Al-Mustaqbal Hospital, Ramallah, Palestinian Authority.

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http://dx.doi.org/10.1016/j.ymgme.2007.11.013DOI Listing
May 2008

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

Ann Neurol 2008 Mar;63(3):405-8

Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem.

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http://dx.doi.org/10.1002/ana.21332DOI Listing
March 2008

C6ORF66 is an assembly factor of mitochondrial complex I.

Am J Hum Genet 2008 Jan;82(1):32-8

Metabolic Disease Unit and, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2007.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2253982PMC
January 2008

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.

Am J Hum Genet 2007 Oct 24;81(4):857-62. Epub 2007 Aug 24.

Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, 91120, Israel.

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http://dx.doi.org/10.1086/521227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227936PMC
October 2007