Chaim Jalas

Chaim Jalas

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Chaim Jalas

Chaim Jalas

Publications by authors named "Chaim Jalas"

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33Publications

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Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.

Eur J Hum Genet 2019 Sep 11;27(9):1419-1426. 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/s41431-019-0400-yDOI Listing
September 2019

Molecular Testing for Preimplantation Genetic Diagnosis of Single Gene Disorders.

Methods Mol Biol 2019 ;1885:61-71

Thomas Jefferson University, Basking Ridge, NJ, USA.

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http://dx.doi.org/10.1007/978-1-4939-8889-1_4DOI Listing
June 2019

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

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

Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.

Appl Clin Genet 2016 31;9:141-6. Epub 2016 Aug 31.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.2147/TACG.S113828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5012844PMC
September 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

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

Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome amplification.

Fertil Steril 2016 Feb 23;105(2):286-94. Epub 2015 Oct 23.

Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey; Division of Reproductive Endocrinology, Department of Obstetrics, Gynecology and Reproductive Sciences, UMDNJ-Robert Wood Johnson Medical School, Basking Ridge, New Jersey.

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http://dx.doi.org/10.1016/j.fertnstert.2015.10.003DOI Listing
February 2016

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

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

J Med Genet 2015 Sep 16;52(9):627-35. Epub 2015 Jul 16.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103140DOI Listing
September 2015

Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.

Mol Genet Genomic Med 2015 Mar 6;3(2):137-42. Epub 2014 Dec 6.

Department of Pathology/Lab Medicine, University of North Carolina School of Medicine Chapel Hill, North Carolina.

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http://dx.doi.org/10.1002/mgg3.124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367086PMC
March 2015

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Am J Hum Genet 2014 Oct 25;95(4):445-53. Epub 2014 Sep 25.

Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, IA 52242, USA; Department of Molecular Physiology & Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4185121PMC
October 2014

Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.

J Assist Reprod Genet 2014 Sep 7;31(9):1227-30. Epub 2014 Aug 7.

Department of Obstetrics, Gynecology and Reproductive Sciences, Rutgers-Robert Wood Johnson Medical School, 125 Paterson St, New Brunswick, NJ, 08901, USA.

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http://dx.doi.org/10.1007/s10815-014-0298-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4156949PMC
September 2014

High-throughput carrier screening using TaqMan allelic discrimination.

PLoS One 2013 26;8(3):e59722. Epub 2013 Mar 26.

Department of Microbiology and Molecular Genetics, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Piscataway, New Jersey, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0059722PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3608587PMC
January 2014

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

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus.

J Med Genet 2012 Nov 5;49(11):708-12. Epub 2012 Oct 5.

Institute of Interdisciplinary Research – IRIBHM, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1136/jmedgenet-2012-101190DOI Listing
November 2012

High-throughput real-time PCR-based genotyping without DNA purification.

BMC Res Notes 2012 Oct 19;5:573. Epub 2012 Oct 19.

Department of Molecular Genetics, Microbiology, and Immunology, UMDNJ-Robert Wood Johnson Medical School, Piscataway, NJ, USA.

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http://dx.doi.org/10.1186/1756-0500-5-573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3505170PMC
October 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