List of works - Dorit Lev

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

scientific article

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

scientific article

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

scientific article

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

scientific article

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

scientific article

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

scientific article

Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

scientific article

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

scientific article published on 9 August 2013

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

scientific article

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

scientific article

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

scientific article

Epilepsy and mental retardation limited to females: an under-recognized disorder

scientific article (publication date: 26 February 2008)

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

scientific article published on 10 May 2013

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

scientific article published on October 8, 2010

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

scientific article published on 2 June 2014

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

scientific article

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

scientific article published on May 2015

White matter involvement in mitochondrial diseases

scientific article

The fetal cerebellum. Pitfalls in diagnosis and management

scientific article

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders

scientific article

Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination

scientific article

Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene

scientific article published in May 2005

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

scientific article published on 15 May 2015

Clinical presentations of mitochondrial cardiomyopathies

scientific article

Imaging of fetal cytomegalovirus infection

scientific article

Genotypic and phenotypic analysis of 396 individuals with mutations inSonic Hedgehog

scientific article published on July 1, 2012

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

scientific article published on 11 March 2009

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).

scientific article

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

scientific article

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

article by Peter Bauer et al published 1 February 2012 in Neurogenetics

Fetal brain imaging: a comparison between magnetic resonance imaging and dedicated neurosonography

scientific article published on 01 April 2004

Neurologic presentations of mitochondrial disorders

scientific article published in January 2000

Fetal cytomegalovirus infection of the brain: the spectrum of sonographic findings.

scientific article published in January 2003

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions

scientific article

Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother

scientific article published on 01 March 1999

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

scientific article published on 26 September 2016

Copy number variations in cryptogenic cerebral palsy

scientific article published on 27 March 2015

Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia.

scientific article

Prenatal brain disruption in molybdenum cofactor deficiency

scientific article published on 31 January 2011

Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B- SCID or Omenn syndrome

scientific article published on May 7, 2011

Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients

scientific article published on 29 August 2016

Non-visualization of the cavum septi pellucidi is not synonymous with agenesis of the corpus callosum

scientific article published in August 2012

Developmental outcome of isolated fetal microcephaly

scientific article published on August 2010

Additional EFNB1 mutations in craniofrontonasal syndrome

scientific article

Thick fetal corpus callosum: an ominous sign?

scientific article published in July 2009

Should autistic children be evaluated for mitochondrial disorders?

scientific article published in May 2004

Central 22q11.2 deletions

scientific article published on August 14, 2014

MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder

scientific article

Does normal fetal brain ultrasound predict normal neurodevelopmental outcome in congenital cytomegalovirus infection?

scientific article published on 17 January 2011

The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.

scientific article

List of works by Dorit Lev

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

Epilepsy and mental retardation limited to females: an under-recognized disorder

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

White matter involvement in mitochondrial diseases

The fetal cerebellum. Pitfalls in diagnosis and management

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders

Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination

Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

Clinical presentations of mitochondrial cardiomyopathies

Imaging of fetal cytomegalovirus infection

Genotypic and phenotypic analysis of 396 individuals with mutations inSonic Hedgehog

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

Fetal brain imaging: a comparison between magnetic resonance imaging and dedicated neurosonography

Neurologic presentations of mitochondrial disorders

Fetal cytomegalovirus infection of the brain: the spectrum of sonographic findings.

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions

Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

Copy number variations in cryptogenic cerebral palsy

Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia.

Prenatal brain disruption in molybdenum cofactor deficiency

Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B- SCID or Omenn syndrome

Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients

Non-visualization of the cavum septi pellucidi is not synonymous with agenesis of the corpus callosum

Developmental outcome of isolated fetal microcephaly

Additional EFNB1 mutations in craniofrontonasal syndrome

Thick fetal corpus callosum: an ominous sign?

Should autistic children be evaluated for mitochondrial disorders?

Central 22q11.2 deletions

MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder

Does normal fetal brain ultrasound predict normal neurodevelopmental outcome in congenital cytomegalovirus infection?

The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.