Avraham Shaag

Avraham Shaag

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Avraham Shaag

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Grandparental genotyping enhances exome variant interpretation.

Am J Med Genet A 2020 Feb 6. Epub 2020 Feb 6.

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

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http://dx.doi.org/10.1002/ajmg.a.61511DOI Listing
February 2020

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

Am J Hum Genet 2019 Jul 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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http://dx.doi.org/10.1016/j.ajhg.2019.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612515PMC
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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http://dx.doi.org/10.1016/j.ajhg.2018.11.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323416PMC
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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http://dx.doi.org/10.1016/j.ejmg.2018.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133759PMC
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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http://dx.doi.org/10.1002/ajmg.a.38506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6190576PMC
January 2018

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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http://dx.doi.org/10.1002/ajmg.a.38347DOI Listing
September 2017

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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http://dx.doi.org/10.1016/j.ajhg.2017.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544387PMC
August 2017

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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http://dx.doi.org/10.1016/j.ejmg.2017.04.001DOI Listing
June 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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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2016-104259
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http://dx.doi.org/10.1136/jmedgenet-2016-104259DOI Listing
April 2017

Mutations in the phosphatidylinositol glycan C () gene are associated with epilepsy and intellectual disability.

J Med Genet 2017 03 30;54(3):196-201. Epub 2016 Sep 30.

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

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http://dx.doi.org/10.1136/jmedgenet-2016-104202DOI Listing
March 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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http://dx.doi.org/10.1007/s10048-016-0507-zDOI Listing
January 2017

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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http://dx.doi.org/10.1038/ejhg.2016.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117932PMC
December 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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http://jmg.bmj.com/content/early/2016/05/12/jmedgenet-2016-1
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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2016-103922
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http://dx.doi.org/10.1136/jmedgenet-2016-103922DOI Listing
October 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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http://dx.doi.org/10.1007/s10048-016-0487-zDOI Listing
October 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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http://dx.doi.org/10.1016/j.jpeds.2016.06.058DOI Listing
October 2016

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

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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http://dx.doi.org/10.1007/8904_2016_580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413448PMC
August 2016

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.

Neurogenetics 2016 07 28;17(3):187-90. Epub 2016 Apr 28.

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

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http://dx.doi.org/10.1007/s10048-016-0483-3DOI Listing
July 2016

Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.

Am J Med Genet A 2016 06 17;170(6):1603-7. Epub 2016 Mar 17.

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

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http://dx.doi.org/10.1002/ajmg.a.37624DOI Listing
June 2016

Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities.

Neurol Genet 2016 Jun 9;2(3):e64. Epub 2016 Mar 9.

Department of Neurosciences (F.A.) and Department of Pediatrics (B.A.-L.), Al-Makassed Islamic Hospital, Jerusalem, Israel; and Monique and Jacques Roboh Department of Genetic Research (A.S., O.E.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1212/NXG.0000000000000064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830197PMC
June 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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http://dx.doi.org/10.1084/jem.20151110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4925012PMC
June 2016

Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).

Muscle Nerve 2016 Apr 3;53(4):564-9. Epub 2015 Sep 3.

Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/mus.24885DOI Listing
April 2016

Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.

J Med Genet 2016 Feb 6;53(2):132-7. Epub 2015 Nov 6.

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

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http://dx.doi.org/10.1136/jmedgenet-2015-103232DOI Listing
February 2016

Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure.

Cancer Genet 2015 Dec 22;208(12):621-4. Epub 2015 Oct 22.

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

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http://dx.doi.org/10.1016/j.cancergen.2015.10.001DOI Listing
December 2015

Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients.

J Med Genet 2015 Nov 25;52(11):749-53. Epub 2015 Aug 25.

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

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http://dx.doi.org/10.1136/jmedgenet-2015-103239DOI Listing
November 2015

Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation.

Clin Immunol 2015 Jul 27;159(1):84-92. Epub 2015 Apr 27.

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

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http://dx.doi.org/10.1016/j.clim.2015.04.007DOI Listing
July 2015

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.

J Assist Reprod Genet 2015 Jun 22;32(6):887-91. Epub 2015 Apr 22.

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

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http://dx.doi.org/10.1007/s10815-015-0445-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491075PMC
June 2015

Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency.

J Clin Immunol 2015 May 17;35(4):356-60. Epub 2015 Apr 17.

Pediatric Division, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10875-015-0164-2DOI Listing
May 2015

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.

Eur J Hum Genet 2015 Feb 30;23(2):159-64. Epub 2014 Apr 30.

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

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http://dx.doi.org/10.1038/ejhg.2014.85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297913PMC
February 2015

Extending the clinical and immunological phenotype of human interleukin-21 receptor deficiency.

Haematologica 2015 Feb 14;100(2):e72-6. Epub 2014 Nov 14.

Center for Chronic Immunodeficiency, University Medical Center Freiburg and University of Freiburg, Germany

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http://dx.doi.org/10.3324/haematol.2014.112508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803132PMC
February 2015

TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly.

J Med Genet 2014 Sep 22;51(9):581-6. Epub 2014 Jul 22.

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

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http://dx.doi.org/10.1136/jmedgenet-2014-102282DOI Listing
September 2014

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.

Eur J Hum Genet 2014 Aug 15;22(8):1019-25. Epub 2014 Jan 15.

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

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http://dx.doi.org/10.1038/ejhg.2013.284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350599PMC
August 2014

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

Eur J Hum Genet 2014 Jul 27;22(7):902-6. Epub 2013 Nov 27.

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

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http://dx.doi.org/10.1038/ejhg.2013.269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060119PMC
July 2014

Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

JAMA Neurol 2014 Jul;71(7):901-4

Hebrew University-Hadassah School of Medicine, Jerusalem, Israel12Department of Child and Adolescent Psychiatry, Jerusalem Mental Health Center, Eitanim Psychiatric Hospital, Jerusalem, Israel.

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http://dx.doi.org/10.1001/jamaneurol.2014.116DOI Listing
July 2014

Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.

J Med Genet 2014 Apr 13;51(4):268-70. Epub 2014 Jan 13.

Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2013-102100DOI Listing
April 2014

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.

J Med Genet 2014 Feb 6;51(2):137-42. Epub 2013 Dec 6.

Department of Pediatrics, Neuropediatric Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2013-102012DOI Listing
February 2014

Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene.

Am J Med Genet A 2013 Dec 29;161A(12):3115-20. Epub 2013 Oct 29.

Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajmg.a.36194DOI Listing
December 2013

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.

J Med Genet 2013 Nov 12;50(11):733-9. Epub 2013 Sep 12.

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

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http://dx.doi.org/10.1136/jmedgenet-2013-101753DOI Listing
November 2013

West syndrome caused by ST3Gal-III deficiency.

Epilepsia 2013 Feb 17;54(2):e24-7. Epub 2012 Dec 17.

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

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http://dx.doi.org/10.1111/epi.12050DOI Listing
February 2013

Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy.

J Med Genet 2013 Feb;50(2):118-23

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

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http://dx.doi.org/10.1136/jmedgenet-2012-101223DOI Listing
February 2013

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.

Epilepsia 2012 Aug 12;53(8):1436-40. Epub 2012 Jun 12.

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

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http://dx.doi.org/10.1111/j.1528-1167.2012.03536.xDOI Listing
August 2012

A human laterality disorder associated with recessive CCDC11 mutation.

J Med Genet 2012 Jun 10;49(6):386-90. Epub 2012 May 10.

Department of Pediatric Cardiology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2011-100457DOI Listing
June 2012

An SNX10 mutation causes malignant osteopetrosis of infancy.

J Med Genet 2012 Apr;49(4):221-6

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

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http://dx.doi.org/10.1136/jmedgenet-2011-100520DOI Listing
April 2012

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

Ann Neurol 2012 Apr;71(4):569-72

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

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http://dx.doi.org/10.1002/ana.23524DOI Listing
April 2012

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.

J Inherit Metab Dis 2012 Jan 24;35(1):125-31. Epub 2011 May 24.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, POB 1200, 91120 Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10545-011-9348-yDOI Listing
January 2012

Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.

Mol Genet Metab 2011 Dec 24;104(4):517-20. Epub 2011 Sep 24.

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

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http://dx.doi.org/10.1016/j.ymgme.2011.09.020DOI Listing
December 2011

A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).

Am J Med Genet A 2011 Nov 11;155A(11):2801-6. Epub 2011 Oct 11.

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

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http://dx.doi.org/10.1002/ajmg.a.34240DOI Listing
November 2011

IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach.

Haematologica 2011 Mar 25;96(3):472-6. Epub 2010 Nov 25.

Pediatric Hematology-Oncology, Hadassah Hebrew University Medical Center, PO Box 12000, Jerusalem 91120, Israel.

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http://dx.doi.org/10.3324/haematol.2010.033910DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3046282PMC
March 2011

l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation.

Mol Genet Metab 2010 Oct-Nov;101(2-3):228-32. Epub 2010 Jul 7.

Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2010.06.021DOI Listing
January 2011

Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs.

Pediatr Dev Pathol 2009 Nov-Dec;12(6):481-6

Perinatal Pathology Unit, Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://journals.sagepub.com/doi/10.2350/08-10-0548.1
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http://dx.doi.org/10.2350/08-10-0548.1DOI Listing
April 2010

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.

Eur J Hum Genet 2009 Sep 4;17(9):1200-3. Epub 2009 Mar 4.

Genetic Institute, Ha'Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel.

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http://dx.doi.org/10.1038/ejhg.2009.24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986593PMC
September 2009

Acute infantile liver failure due to mutations in the TRMU gene.

Am J Hum Genet 2009 Sep;85(3):401-7

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

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http://dx.doi.org/10.1016/j.ajhg.2009.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2771591PMC
September 2009

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.

Ann Neurol 2009 Sep;66(3):419-24

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

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http://dx.doi.org/10.1002/ana.21752DOI Listing
September 2009

Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.

Am J Hum Genet 2008 Oct 25;83(4):489-94. Epub 2008 Sep 25.

The Metabolic Disease Unit, Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2008.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2561931PMC
October 2008

The unique neuroradiology of complex I deficiency due to NDUFA12L defect.

Mol Genet Metab 2008 May 3;94(1):78-82. Epub 2008 Jan 3.

Al-Mustaqbal Hospital, Ramallah, Palestinian Authority.

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http://dx.doi.org/10.1016/j.ymgme.2007.11.013DOI Listing
May 2008

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

Ann Neurol 2008 Mar;63(3):405-8

Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem.

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http://dx.doi.org/10.1002/ana.21332DOI Listing
March 2008

C6ORF66 is an assembly factor of mitochondrial complex I.

Am J Hum Genet 2008 Jan;82(1):32-8

Metabolic Disease Unit and, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2007.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2253982PMC
January 2008

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.

Am J Hum Genet 2007 Oct 24;81(4):857-62. Epub 2007 Aug 24.

Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, 91120, Israel.

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http://dx.doi.org/10.1086/521227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227936PMC
October 2007

Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population.

Hum Mol Genet 2005 Feb 13;14(4):555-63. Epub 2005 Jan 13.

Department of Medicine (Medical Genetics) and Genome Sciences, University of Washington, Seattle, WA 98195-7720, USA.

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http://dx.doi.org/10.1093/hmg/ddi052DOI Listing
February 2005

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.

Ann Neurol 2004 Nov;56(5):734-8

Metabolic Disease Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ana.20282DOI Listing
November 2004

mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency.

Mol Genet Metab 2003 May;79(1):1-5

Metabolic Disease Unit, Shaare-Zedek Medical Center, Post Office Box 3235, IL-91031 Jerusalem, Israel.

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http://dx.doi.org/10.1016/s1096-7192(03)00063-5DOI Listing
May 2003

N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy.

Ann Neurol 2002 Dec;52(6):845-9

The Metabolic Disease Unit, Faculty of Medicine, Shaare-Zedek Medical Center, Hebrew University, Jerusalem 91031, Israel.

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http://dx.doi.org/10.1002/ana.10406DOI Listing
December 2002

Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids.

Mol Genet Metab 2002 Nov;77(3):202-8

The Metabolic Disease Unit, Faculty of Medicine, Shaare-Zedek Medical Center, Hebrew University, Jerusalem, Israel.

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http://dx.doi.org/10.1016/s1096-7192(02)00167-1DOI Listing
November 2002

Clinical characteristics and muscle pathology in myopathic mitochondrial DNA depletion.

J Child Neurol 2002 Jul;17(7):499-504

Institute for Child Development and Pediatric Neurology, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Israel.

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http://journals.sagepub.com/doi/10.1177/088307380201700705
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http://dx.doi.org/10.1177/088307380201700705DOI Listing
July 2002

Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.

Hum Mutat 2002 Jan;19(1):80-1

The Metabolic Disease Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/humu.9001DOI Listing
January 2002