Publications by authors named "Ortal Barel"

37Publications

Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3.

Genes Immun 2020 Sep 14. Epub 2020 Sep 14.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1038/s41435-020-00111-7DOI Listing
September 2020

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease.

Mol Genet Metab Rep 2020 Dec 15;25:100631. Epub 2020 Aug 15.

Metabolic Disease Unit, Edmond and Lily Safra Children's hospital, Sheba Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Israel.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7451421PMC
December 2020

Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene.

Pediatr Blood Cancer 2020 06 11;67(6):e28237. Epub 2020 Apr 11.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1002/pbc.28237DOI Listing
June 2020

Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community.

Clin Immunol 2020 05 3;214:108376. Epub 2020 Mar 3.

Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, "Edmond and Lily Safra" Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2020.108376DOI Listing
May 2020

Identification of a homozygous VRK1 mutation in two patients with adult-onset distal hereditary motor neuropathy.

Muscle Nerve 2020 03 16;61(3):395-400. Epub 2020 Jan 16.

The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel.

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http://dx.doi.org/10.1002/mus.26779DOI Listing
March 2020

Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia.

Hum Mutat 2020 Feb 15;41(2):476-486. Epub 2019 Nov 15.

Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Ramat Gan, Israel.

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http://dx.doi.org/10.1002/humu.23945DOI Listing
February 2020

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With Mutation.

Front Immunol 2019 17;10:1672. Epub 2019 Jul 17.

The National Lab for Diagnosing SCID - The Israeli Newborn Screening Program, Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Sheba Medical Center, Edmond and Lily Safra Children's Hospital, Israel Ministry of Health, Tel HaShomer, Israel.

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http://dx.doi.org/10.3389/fimmu.2019.01672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6650764PMC
September 2020

Neonatal osteoma cutis due to a mutation in GNAS.

Pediatr Dermatol 2019 Sep 18;36(5):732-734. Epub 2019 Jun 18.

The Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1111/pde.13879DOI Listing
September 2019

Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire.

J Clin Immunol 2019 05 29;39(4):401-413. Epub 2019 Apr 29.

Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621, Tel Hashomer, Israel.

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http://link.springer.com/10.1007/s10875-019-00629-0
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http://dx.doi.org/10.1007/s10875-019-00629-0DOI Listing
May 2019

c.259A>C in the fibrinogen gene of alpha chain () is a fibrinogen with thrombotic phenotype.

Appl Clin Genet 2019 28;12:27-33. Epub 2019 Feb 28.

Cancer Research Center, Wohl Institute of Translational Medicine, Sheba Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.2147/TACG.S190599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400116PMC
February 2019

Sustained Response to Imatinib in a Pediatric Patient with Concurrent Myeloproliferative Disease and Lymphoblastic Lymphoma Associated with a CCDC88C-PDGFRB Fusion Gene.

Acta Haematol 2019 6;141(2):119-127. Epub 2019 Feb 6.

Department of Pediatric Hematology-Oncology, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel.

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http://dx.doi.org/10.1159/000495687DOI Listing
September 2019

Abdominal muscle weakness as a presenting symptom in GNE myopathy.

J Clin Neurosci 2019 Jan 3;59:316-317. Epub 2018 Nov 3.

Department of Neurology, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09675868183100
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http://dx.doi.org/10.1016/j.jocn.2018.10.122DOI Listing
January 2019

Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.

Eur J Med Genet 2019 Mar 10;62(3):167-171. Epub 2018 Jul 10.

The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.004DOI Listing
March 2019

LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings.

J Ultrasound Med 2018 Jul 13;37(7):1827-1833. Epub 2018 Jan 13.

Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.

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http://dx.doi.org/10.1002/jum.14520DOI Listing
July 2018

Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.

J Pediatr Gastroenterol Nutr 2017 05;64(5):770-776

*Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel †Cincinnati Children's Hospital Medical Center, Cincinnati, OH ‡Cancer Research Center §Institute of Pathology, Sheba Medical Center, Tel Hashomer ||Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv ¶Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.

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http://dx.doi.org/10.1097/MPG.0000000000001424DOI Listing
May 2017

A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

J Clin Immunol 2016 11 12;36(8):801-809. Epub 2016 Oct 12.

Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Hashomer, Ramat Gan, Israel.

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http://link.springer.com/10.1007/s10875-016-0340-z
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http://dx.doi.org/10.1007/s10875-016-0340-zDOI Listing
November 2016

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

J Exp Med 2016 07 18;213(8):1429-40. Epub 2016 Jul 18.

Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel

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http://dx.doi.org/10.1084/jem.20151618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4986528PMC
July 2016

Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.

Am J Hum Genet 2008 Aug;83(2):193-9

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben Gurion University, Beer-Sheva 84105, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2008.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2495061PMC
August 2008

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ.

Am J Hum Genet 2008 May 24;82(5):1211-6. Epub 2008 Apr 24.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva 84105, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2008.03.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427202PMC
May 2008