List of works - Ronen Spiegel

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

scientific article

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

scientific article

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

scientific article published on 25 August 2013

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

scientific article

A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans

scientific article

Genetic spectrum of hereditary neuropathies with onset in the first year of life

scientific article published on August 11, 2011

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

scientific article

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

scientific article published on September 2009

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

scientific article

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis

scientific article published on 24 April 2008

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation

scientific article published on July 26, 2012

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

scientific article

The clinical spectrum of fetal Niemann-Pick type C

scientific article published on 01 March 2009

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.

scientific article published on 25 March 2015

TMEM70 deficiency: long-term outcome of 48 patients

scientific article published on 18 October 2014

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

scientific article published on 08 December 2010

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

scientific article published on 11 November 2015

Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship

scientific article published on January 15, 2014

Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations

article by Ronen Spiegel et al published 30 September 2011 in American Journal of Medical Genetics

Kawasaki Disease in Very Young Infants: High Prevalence of Atypical Presentation and Coronary Arteritis

scientific article published on April 1, 2003

Acute neonatal suppurative parotitis: case reports and review

scientific article published on January 2004

Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping

scientific article published on 01 February 2009

Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations

scientific article published on 20 January 2009

Expanding the clinical spectrum of SLC29A3 gene defects

article

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

scientific article

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

scientific article

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy

scientific article published on 4 April 2017

Late relapse of herpes simplex virus encephalitis in a child due to reactivation of latent virus: clinicopathological report and review

scientific article published on 29 January 2008

Secondary diabetes mellitus: late complication of glycogen storage disease type 1b.

scientific article published in June 2005

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

scientific article published on 18 July 2017

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

scientific article

A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia

scientific article published on 26 November 2012

Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema

scientific article published in November 2005

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization

scientific article published on 24 November 2016

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

scientific article published in Nature Communications

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency

scientific article published on March 15, 2010

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy

scientific article published in Nature Communications

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy

scientific article

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program

scientific article published on 13 November 2015

Severe meningoencephalitis due to late reactivation of Varicella-Zoster virus in an immunocompetent child

scientific article published on 3 June 2009

Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency

scientific article

A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy

scientific article published on 09 December 2012

Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.

scientific article

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype

scientific article

Pseudomonas stutzeri knee arthritis in a child: case report and review

scientific article published on November 2007

A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families

scientific article published on 03 March 2012

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

scientific article published on 01 May 2015

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene

scientific article published on September 28, 2014

List of works by Ronen Spiegel

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans

Genetic spectrum of hereditary neuropathies with onset in the first year of life

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

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

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

The clinical spectrum of fetal Niemann-Pick type C

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.

TMEM70 deficiency: long-term outcome of 48 patients

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship

Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations

Kawasaki Disease in Very Young Infants: High Prevalence of Atypical Presentation and Coronary Arteritis

Acute neonatal suppurative parotitis: case reports and review

Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping

Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations

Expanding the clinical spectrum of SLC29A3 gene defects

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy

Late relapse of herpes simplex virus encephalitis in a child due to reactivation of latent virus: clinicopathological report and review

Secondary diabetes mellitus: late complication of glycogen storage disease type 1b.

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia

Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program

Severe meningoencephalitis due to late reactivation of Varicella-Zoster virus in an immunocompetent child

Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency

A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy

Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype

Pseudomonas stutzeri knee arthritis in a child: case report and review

A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene