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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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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

PLoS genetics, 2019-04, Vol.15 (4), p.e1008088-e1008088

2019

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Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy

The New England journal of medicine, 2017-07, Vol.377 (1), p.87-89

2017

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VarElect: the phenotype-based variation prioritizer of the GeneCards Suite

BMC genomics, 2016-06, Vol.17 Suppl 2 (Suppl 2), p.444-444, Article 444

2016

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Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt

Rambam Maimonides medical journal, 2018-07, Vol.9 (3), p.e0018

2018

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Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

Journal of clinical oncology, 2021-09, Vol.39 (25), p.JCO2002636-2790

2021

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Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease

The journal of obstetrics and gynaecology research, 2014-04, Vol.40 (4), p.968-975

2014

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Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history

Pediatric endocrinology reviews : PER, 2014-09, Vol.12 Suppl 1, p.72

2014

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PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation

Science (American Association for the Advancement of Science), 2021-12, Vol.374 (6573), p.eabk0410-eabk0410

2021

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Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency

Human molecular genetics, 2018-06, Vol.27 (11), p.1913-1926

2018

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Trio approach reveals higher risk of PD in carriers of severe vs. mild GBA mutations

Blood cells, molecules, & diseases, 2018-02, Vol.68, p.115-116

2018

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Microarray analysis in pregnancies with isolated echogenic bowel

Early human development, 2018-04, Vol.119, p.25-28

2018

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Microarray analysis in pregnancies with isolated unilateral kidney agenesis

Pediatric research, 2018-04, Vol.83 (4), p.825-828

2018

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The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

Journal of medical genetics, 2007-09, Vol.44 (9), p.594-602

2007

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Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

Human molecular genetics, 2015-07, Vol.24 (13), p.3742-3751

2015

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Prenatal microarray analysis in right aortic arch-a retrospective cohort study and review of the literature

Journal of perinatology, 2018-05, Vol.38 (5), p.468-473

2018

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Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype

Journal of medical genetics, 2018-11, Vol.55 (11), p.779-784

2018

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Correspondence on “Neurocutaneous Syndromes and Brain Tumors”

Journal of Child Neurology, 2016-06, Vol.31 (7), p.944-944

2016

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Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1

Blood cells, molecules, & diseases, 2018-07, Vol.71, p.71-74

2018

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Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium

The American journal of gastroenterology, 2016-02, Vol.111 (2), p.275-284

2016

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Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population

European journal of medical genetics, 2020-02, Vol.63 (2), p.103643-103643, Article 103643

2020

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Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity

Pediatric blood & cancer, 2016-03, Vol.63 (3), p.418-427

2016

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Is one diagnosis the whole story? patients with double diagnoses

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2338-2348

2016

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Re-evaluation of bone pain in patients with type 1 Gaucher disease suggests that bone crises occur in small bones as well as long bones

Blood cells, molecules, & diseases, 2016-09, Vol.60, p.65-72

2016

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

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency

VarElect: the phenotype-based variation prioritizer of the GeneCards Suite

Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt

Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease

Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history

PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation

Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency

Trio approach reveals higher risk of PD in carriers of severe vs. mild GBA mutations

Microarray analysis in pregnancies with isolated echogenic bowel

Microarray analysis in pregnancies with isolated unilateral kidney agenesis

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

Prenatal microarray analysis in right aortic arch-a retrospective cohort study and review of the literature

Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype

Correspondence on “Neurocutaneous Syndromes and Brain Tumors”

Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1

Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium

Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population

Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity

Is one diagnosis the whole story? patients with double diagnoses

Re-evaluation of bone pain in patients with type 1 Gaucher disease suggests that bone crises occur in small bones as well as long bones

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