Barak Markus

Barak Markus

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Barak Markus

Barak Markus

Publications by authors named "Barak Markus"

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Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.

Am J Med Genet A 2018 12 4;176(12):2695-2703. Epub 2018 Dec 4.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.

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http://doi.wiley.com/10.1002/ajmg.a.40668
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http://dx.doi.org/10.1002/ajmg.a.40668DOI Listing
December 2018

Mechanotransduction via the LINC complex regulates DNA replication in myonuclei.

J Cell Biol 2018 06 12;217(6):2005-2018. Epub 2018 Apr 12.

Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel

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http://www.jcb.org/lookup/doi/10.1083/jcb.201708137
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http://dx.doi.org/10.1083/jcb.201708137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987719PMC
June 2018

Protein recognition by a pattern-generating fluorescent molecular probe.

Nat Nanotechnol 2017 12 16;12(12):1161-1168. Epub 2017 Oct 16.

Department of Organic Chemistry, Weizmann Institute of Science, Rehovot 7610001, Israel.

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http://dx.doi.org/10.1038/nnano.2017.175DOI Listing
December 2017

Three interacting genomic loci incorporating two novel mutations underlie the evolution of diet-induced diabetes.

Mol Med 2016 Oct 26;22:560-569. Epub 2016 Jul 26.

Laboratory for Molecular Medicine and Israeli Rat Genome Center, Barzilai University Medical Center, Ashkelon.

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http://dx.doi.org/10.2119/molmed.2016.00114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082302PMC
October 2016

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.

PLoS Genet 2016 Mar 23;12(3):e1005919. Epub 2016 Mar 23.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University, Beer Sheva, Israel.

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http://dx.doi.org/10.1371/journal.pgen.1005919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805177PMC
March 2016

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A.

Eur J Hum Genet 2015 Dec 12;23(12):1729-34. Epub 2014 Nov 12.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

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http://dx.doi.org/10.1038/ejhg.2014.241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795192PMC
December 2015

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.

Eur J Hum Genet 2014 May 18;22(5):703-6. Epub 2013 Sep 18.

1] The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev, Ben-Gurion University, Beer-Sheva, Israel [2] Genetics Institute, Soroka Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

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http://dx.doi.org/10.1038/ejhg.2013.212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992574PMC
May 2014

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).

J Med Genet 2014 May 27;51(5):303-8. Epub 2014 Feb 27.

Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University, Beer Sheva, Israel.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2013-101823
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http://dx.doi.org/10.1136/jmedgenet-2013-101823DOI Listing
May 2014

A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.

Hum Mutat 2013 Apr;34(4):582-6

The Morris Kahn Laboratory of Human Genetics at the National Institute for Biotechnology in the Negev (NIBN) and Faculty of Health Sciences, Ben Gurion University, Beer-Sheva, Israel.

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http://dx.doi.org/10.1002/humu.22274DOI Listing
April 2013

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.

Hum Mutat 2012 Oct 7;33(10):1435-8. Epub 2012 Jun 7.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben Gurion University, Beer-Sheva, Israel.

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http://doi.wiley.com/10.1002/humu.22122
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http://dx.doi.org/10.1002/humu.22122DOI Listing
October 2012

Integration of SNP genotyping confidence scores in IBD inference.

Bioinformatics 2011 Oct 23;27(20):2880-7. Epub 2011 Aug 23.

The Morris Kahn Laboratory of Human Genetics, Department of Virology and Developmental Genetics, NIBN, Ben Gurion University, Israel.

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http://dx.doi.org/10.1093/bioinformatics/btr486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3187655PMC
October 2011

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.

Eur J Hum Genet 2011 Sep 11;19(9):942-6. Epub 2011 May 11.

The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva, Israel.

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http://www.nature.com/articles/ejhg201174
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http://dx.doi.org/10.1038/ejhg.2011.74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179370PMC
September 2011