Publications by authors named "Avraham Shaag"

95 Publications

A mutation in POLR3E impairs antiviral immune response and RNA polymerase III.

Proc Natl Acad Sci U S A 2020 09 25;117(36):22113-22121. Epub 2020 Aug 25.

Microbiology and Molecular Genetics, Institute of Medical Research Israel-Canada, The Hebrew University-Hadassah Medical School, 9112102 Jerusalem, Israel;

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September 2020

Clues and challenges in the diagnosis of intermittent maple syrup urine disease.

Eur J Med Genet 2020 Jun 6;63(6):103901. Epub 2020 Mar 6.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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June 2020

Grandparental genotyping enhances exome variant interpretation.

Am J Med Genet A 2020 04 6;182(4):689-696. Epub 2020 Feb 6.

Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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April 2020

Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.

Am J Hum Genet 2019 07 6;105(1):48-64. Epub 2019 Jun 6.

Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91240, Israel; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

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July 2019

Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.

Am J Hum Genet 2019 01 27;104(1):179-185. Epub 2018 Dec 27.

Department of Biochemistry and Molecular Biology, Pennsylvania State University College of Medicine, 500 University Drive, Hershey, PA 17033, USA. Electronic address:

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January 2019

MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.

Eur J Med Genet 2018 Oct 12;61(10):616-620. Epub 2018 Apr 12.

Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. Electronic address:

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October 2018

A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.

Am J Med Genet A 2018 01 12;176(1):92-98. Epub 2017 Nov 12.

Monique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.

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January 2018

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.

Am J Hum Genet 2017 Aug;101(2):291-299

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

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August 2017

Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.

Am J Med Genet A 2017 Sep 7;173(9):2539-2544. Epub 2017 Jul 7.

Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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September 2017

Coexistence of Two Rare Autosomal Recessive Disorders: Activation-Induced Cytidine Deaminase Deficiency and Sjogren-Larsson Syndrome.

Isr Med Assoc J 2016 Oct;18(10):636-638

Department of Pediatric Hematology-Oncology and Bone Marrow Transplantation, Hadassah-Hebrew University Medical Center, Ein Kerem Campus, Jerusalem, Israel.

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October 2016

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

Eur J Med Genet 2017 Jun 5;60(6):317-320. Epub 2017 Apr 5.

Pediatric Department B, Emek Medical Center, Afula, Israel; Rappaport School of Medicine, Technion, Haifa, Israel. Electronic address:

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June 2017

Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.

Neurogenetics 2017 01 5;18(1):57-61. Epub 2017 Jan 5.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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January 2017

Congenital valvular defects associated with deleterious mutations in the gene.

J Med Genet 2017 04 31;54(4):278-286. Epub 2016 Oct 31.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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April 2017

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

JIMD Rep 2017 19;33:55-60. Epub 2016 Aug 19.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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August 2016

Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.

J Pediatr 2016 10 8;177:316-320. Epub 2016 Aug 8.

Department of Pediatric Hematology Oncology and Bone Marrow Transplantation, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

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October 2016

Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit.

Eur J Hum Genet 2016 12 3;24(12):1778-1782. Epub 2016 Aug 3.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, the Hebrew University Medical Center, Jerusalem, Israel.

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December 2016

A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.

Neurogenetics 2016 10 15;17(4):219-225. Epub 2016 Jun 15.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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October 2016

Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT.

J Exp Med 2016 06 30;213(7):1185-99. Epub 2016 May 30.

Monique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, Hebrew University, Jerusalem 91120, Israel Department of Pediatric Hematology-Oncology and Bone Marrow Transplantation, Hadassah Medical Center, Hebrew University, Jerusalem 91120, Israel

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June 2016

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

J Med Genet 2016 10 12;53(10):690-6. Epub 2016 May 12.

The Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

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October 2016