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Hereditary orotic aciduria identified by newborn screening

Frontiers in genetics, 2023-03, Vol.14, p.1135267-1135267

2023

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Genetic defects in peroxisome morphogenesis (Pex11β, dynamin‐like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid‐phospholipid metabolism

Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.273-285

2023

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Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia

Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.232-242

2023

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Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter

Human molecular genetics, 2022-12, Vol.31 (24), p.4121-4130

2022

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Vici syndrome in Israel: Clinical and molecular insights

Frontiers in genetics, 2022-09, Vol.13, p.991721-991721

2022

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Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants

Molecular genetics & genomic medicine, 2022-01, Vol.10 (1), p.e1849-n/a

2022

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Concomitant congenital CMV infection and inherited liver diseases

European journal of medical genetics, 2021-08, Vol.64 (8), p.104249-104249, Article 104249

2021

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A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

Molecular genetics and metabolism reports, 2021-03, Vol.26, p.100699-100699, Article 100699

2021

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Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4

European journal of medical genetics, 2020-11, Vol.63 (11), p.104020, Article 104020

2020

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COG6‐CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development

Clinical genetics, 2020-10, Vol.98 (4), p.402-407

2020

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Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1192-1230

2019

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A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

Journal of human genetics, 2019-06, Vol.64 (6), p.589-595

2019

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ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

Neurology. Genetics, 2018-04, Vol.4 (2), p.e223-e223

2018

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Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease

Human mutation, 2018-04, Vol.39 (4), p.563-578

2018

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Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation)

American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2461-2466

2017

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

European journal of medical genetics, 2017-06, Vol.60 (6), p.317-320

2017

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PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

Journal of human genetics, 2017-05, Vol.62 (5), p.525-529

2017

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TBCK‐related intellectual disability syndrome: Case study of two patients

American journal of medical genetics. Part A, 2017-02, Vol.173 (2), p.491-494

2017

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Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine

American journal of human genetics, 2016-11, Vol.99 (5), p.1172-1180

2016

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

Journal of medical genetics, 2016-10, Vol.53 (10), p.690-696

2016

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A novel homozygous splice site mutation in NALCN identified in siblings with Cachexia, Strabismus, Severe Intellectual Disability, Epilepsy and Abnormal Respiratory Rhythm

European journal of medical genetics, 2016-04, Vol.59 (4), p.204-209

2016

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

Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.211-217

2016

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

Journal of medical genetics, 2016-02, Vol.53 (2), p.127-131

2016

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Hereditary orotic aciduria identified by newborn screening

Genetic defects in peroxisome morphogenesis (Pex11β, dynamin‐like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid‐phospholipid metabolism

Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia

Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter

Vici syndrome in Israel: Clinical and molecular insights

Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants

Concomitant congenital CMV infection and inherited liver diseases

The role of orotic acid measurement in routine newborn screening for urea cycle disorders

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4

COG6‐CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease

Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation)

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

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

TBCK‐related intellectual disability syndrome: Case study of two patients

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine

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

A novel homozygous splice site mutation in NALCN identified in siblings with Cachexia, Strabismus, Severe Intellectual Disability, Epilepsy and Abnormal Respiratory Rhythm

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

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

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