Orly Elpeleg

Orly Elpeleg

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Orly Elpeleg

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Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features.

Neurogenetics 2019 Oct 2;20(4):209-213. Epub 2019 Aug 2.

Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, POB 12000, 9112001, Jerusalem, Israel.

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http://link.springer.com/10.1007/s10048-019-00583-4
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http://dx.doi.org/10.1007/s10048-019-00583-4DOI Listing
October 2019

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.

Eur J Hum Genet 2019 Aug 11;27(8):1315-1319. Epub 2019 Apr 11.

Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, 9112001, Jerusalem, Israel.

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http://dx.doi.org/10.1038/s41431-019-0380-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777458PMC
August 2019

A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy.

Eur J Hum Genet 2019 Jul 15;27(7):1072-1080. Epub 2019 Feb 15.

School of Neurobiology Biochemistry and Biophysics, Sagol School of Neurosciences, Faculty of Life Sciences, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1038/s41431-019-0358-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777446PMC
July 2019

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

Organic solute transporter-β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis.

Hepatology 2018 08 11;68(2):590-598. Epub 2018 May 11.

Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, Emory University School of Medicine, Children's Healthcare of Atlanta, Atlanta, GA.

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http://dx.doi.org/10.1002/hep.29516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5847420PMC
August 2018

Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients.

Eur J Pediatr 2018 Aug 18;177(8):1163-1172. Epub 2018 May 18.

Bone Marrow Transplantation Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://link.springer.com/10.1007/s00431-018-3171-5
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http://dx.doi.org/10.1007/s00431-018-3171-5DOI Listing
August 2018

EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans.

J Lipid Res 2018 06 2;59(6):1015-1026. Epub 2018 Mar 2.

Department of Biochemistry, Dokkyo Medical University School of Medicine, Mibu, Tochigi, Japan

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http://dx.doi.org/10.1194/jlr.P081620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983406PMC
June 2018

T NK IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency.

J Clin Immunol 2018 05 9;38(4):527-536. Epub 2018 Jun 9.

Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg and Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1007/s10875-018-0514-yDOI Listing
May 2018

A homozygous TTN gene variant associated with lethal congenital contracture syndrome.

Am J Med Genet A 2018 04;176(4):1001-1005

Genetics Institute, Emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1002/ajmg.a.38639DOI Listing
April 2018

[EXOME ANALYSIS - A GAME CHANGER IN PEDIATRICS].

Harefuah 2018 Mar;157(3):188-191

Bone Marrow Transplantation Department, Hadassah, Hebrew University Medical Center, Jerusalem.

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March 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

Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.

Eur J Hum Genet 2017 10 2;25(10):1142-1146. Epub 2017 Aug 2.

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.2017.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602013PMC
October 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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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

Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.

Neurogenetics 2017 Jul 10;18(3):135-139. Epub 2017 May 10.

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/s10048-017-0515-7DOI Listing
July 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

Compound heterozygosity for severe and hypomorphic mutations cause non-syndromic LHON-like optic neuropathy.

J Med Genet 2017 05 28;54(5):346-356. Epub 2016 Dec 28.

Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine, Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2016-104212DOI Listing
May 2017

tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.

Eur J Hum Genet 2017 05 8;25(5):545-551. Epub 2017 Mar 8.

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/10.1038/ejhg.2017.30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437908PMC
May 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

Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect.

Neurogenetics 2017 04;18(2):119

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/s10048-017-0511-yDOI 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

TBCK-related intellectual disability syndrome: Case study of two patients.

Am J Med Genet A 2017 Feb 17;173(2):491-494. Epub 2016 Oct 17.

Genetics Institute, Ha'emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1002/ajmg.a.38019DOI Listing
February 2017

Tocilizumab Promotes Regulatory T-cell Alleviation in STAT3 Gain-of-function-associated Multi-organ Autoimmune Syndrome.

Clin Ther 2017 Feb 30;39(2):444-449. Epub 2017 Jan 30.

Gastroenterology and Liver Unit, Department of Medicine, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.clinthera.2017.01.004DOI Listing
February 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

Therapy with eculizumab for patients with CD59 p.Cys89Tyr mutation.

Ann Neurol 2016 Nov 19;80(5):708-717. Epub 2016 Sep 19.

Rheumatology Research Center and Department of Medicine, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ana.24770DOI Listing
November 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

PARP10 deficiency manifests by severe developmental delay and DNA repair defect.

Neurogenetics 2016 10 13;17(4):227-232. Epub 2016 Sep 13.

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/s10048-016-0493-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096377PMC
October 2016

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.

Am J Hum Genet 2016 09 18;99(3):728-734. Epub 2016 Aug 18.

Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011042PMC
September 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

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.

Hum Mol Genet 2016 07 18;25(14):2985-2996. Epub 2016 May 18.

Institute of Genetic Medicine, Newcastle University, Central Parkway, NE1 3BZ, Newcastle upon Tyne, UK

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http://dx.doi.org/10.1093/hmg/ddw149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181591PMC
July 2016

Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy.

J Med Genet 2016 06 20;53(6):389-96. Epub 2016 Jan 20.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5068917PMC
http://dx.doi.org/10.1136/jmedgenet-2015-103457DOI 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

An Ashkenazi founder mutation in the PKHD1 gene.

Eur J Med Genet 2016 Feb 23;59(2):86-90. Epub 2015 Dec 23.

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

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http://dx.doi.org/10.1016/j.ejmg.2015.12.013DOI Listing
February 2016

Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype.

Clin Immunol 2016 Feb 6;163:91-5. Epub 2016 Jan 6.

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.clim.2016.01.001DOI Listing
February 2016

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.

Eur J Paediatr Neurol 2016 Jan 22;20(1):69-79. Epub 2015 Oct 22.

Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Med. Ctr., Israel; The Sackler School of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798150017
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http://dx.doi.org/10.1016/j.ejpn.2015.10.003DOI Listing
January 2016

Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.

Neurogenetics 2016 Jan 17;17(1):25-30. Epub 2015 Nov 17.

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

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http://link.springer.com/content/pdf/10.1007%2Fs10048-015-04
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http://link.springer.com/10.1007/s10048-015-0464-y
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http://dx.doi.org/10.1007/s10048-015-0464-yDOI Listing
January 2016

A human laterality disorder caused by a homozygous deleterious mutation in MMP21.

J Med Genet 2015 Dec 1;52(12):840-7. Epub 2015 Oct 1.

Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936483PMC
December 2015

Cytokine secretion and NK cell activity in human ADAM17 deficiency.

Oncotarget 2015 Dec;6(42):44151-60

Lautenberg Center for General and Tumor Immunology, The Hebrew University, The BioMedical Research Institute, Hadassah Medical School, Jerusalem, Israel.

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http://dx.doi.org/10.18632/oncotarget.6629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4792548PMC
December 2015

Devastating recurrent brain ischemic infarctions and retinal disease in pediatric patients with CD59 deficiency.

Eur J Paediatr Neurol 2015 Nov 20;19(6):688-93. Epub 2015 Jul 20.

Department of Medicine B Director, Center for Research in Rheumatology, Hadassah Medical Center, Hebrew University, Jerusalem, Israel. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798150012
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http://dx.doi.org/10.1016/j.ejpn.2015.07.001DOI Listing
November 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

A human laterality disorder associated with a homozygous WDR16 deletion.

Eur J Hum Genet 2015 Sep 3;23(9):1262-5. Epub 2014 Dec 3.

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.2014.265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538206PMC
September 2015

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.

Neurogenetics 2015 Jul 17;16(3):215-221. Epub 2015 Apr 17.

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

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http://dx.doi.org/10.1007/s10048-015-0446-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4962907PMC
July 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

Clinical and biochemical characterization of four patients with mutations in ECHS1.

Orphanet J Rare Dis 2015 Jun 18;10:79. Epub 2015 Jun 18.

Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.

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http://dx.doi.org/10.1186/s13023-015-0290-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4474341PMC
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

Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3.

Am J Med Genet A 2015 Mar;167A(3):607-11

Genetics Institute, Ha'Emek Medical center, Afula, Israel; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1002/ajmg.a.36906DOI Listing
March 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

Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene.

Neurogenetics 2015 Jan 22;16(1):23-6. Epub 2014 Oct 22.

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

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http://dx.doi.org/10.1007/s10048-014-0428-7DOI Listing
January 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

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