Publications by authors named "Hagar Mor-Shaked"

12Publications

De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features.

Am J Med Genet A 2020 Oct 7. Epub 2020 Oct 7.

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

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http://dx.doi.org/10.1002/ajmg.a.61901DOI Listing
October 2020

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.

Am J Hum Genet 2020 08 23;107(2):293-310. Epub 2020 Jul 23.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413889PMC
August 2020

Benign SLC39A14 Course of Dystonia-Parkinsonism Secondary to Inherited Manganese Accumulation.

Mov Disord Clin Pract 2020 Jul 7;7(5):569-570. Epub 2020 May 7.

Department of Neurology Hadassah Medical Center and the Hebrew University Jerusalem Israel.

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http://dx.doi.org/10.1002/mdc3.12947DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7328422PMC
July 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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http://dx.doi.org/10.1002/ajmg.a.61511DOI Listing
April 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nat Commun 2020 01 30;11(1):595. Epub 2020 Jan 30.

Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.

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http://dx.doi.org/10.1038/s41467-020-14360-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992768PMC
January 2020

Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis.

Am J Med Genet A 2019 12 9;179(12):2454-2458. Epub 2019 Sep 9.

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.61355DOI Listing
December 2019

The G-rich Repeats in and Loci Are Hotspots for Local Unpairing of DNA.

Genetics 2018 12 5;210(4):1239-1252. Epub 2018 Nov 5.

Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem 91031, Israel

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http://www.genetics.org/lookup/doi/10.1534/genetics.118.3016
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http://dx.doi.org/10.1534/genetics.118.301672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283162PMC
December 2018

Reevaluation of Hypermethylation Timing in Fragile X Syndrome.

Front Mol Neurosci 2018 6;11:31. Epub 2018 Feb 6.

Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.3389/fnmol.2018.00031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808132PMC
February 2018

Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells.

Genes (Basel) 2016 Sep 28;7(10). Epub 2016 Sep 28.

Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center Affiliated with the Hebrew University School of Medicine, Jerusalem 91031, Israel.

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http://dx.doi.org/10.3390/genes7100077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5083916PMC
September 2016

Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.

World J Stem Cells 2015 Jun;7(5):823-38

Shira Yanovsky-Dagan, Hagar Mor-Shaked, Rachel Eiges, Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem 91031, Israel.

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http://dx.doi.org/10.4252/wjsc.v7.i5.823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478629PMC
June 2015

FMR1 epigenetic silencing commonly occurs in undifferentiated fragile X-affected embryonic stem cells.

Stem Cell Reports 2014 Nov 3;3(5):699-706. Epub 2014 Oct 3.

Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem 91031, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2014.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235235PMC
November 2014