Barak Markus

发表

A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta

D. Landau, O. Birk, B. Markus, 2013, Human mutation.

Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.

O. Birk, B. Markus, I. Shelef, 2010, American journal of human genetics.

Mechanotransduction via the LINC complex regulates DNA replication in myonuclei

Shuoshuo Wang, B. Markus, T. Volk, 2018, The Journal of cell biology.

Three Interacting Genomic Loci Incorporating Two Novel Mutations Underlie the Evolution of Diet-induced Diabetes

C. Yagil, R. Kohen, Y. Yagil, 2016, Molecular Medicine.

Abundant contribution of short tandem repeats to gene expression variation in humans

Yaniv Erlich, Melissa Gymrek, Andrew J Sharp, 2015, Nature Genetics.

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

O. Birk, B. Markus, T. Harel, 2016, PLoS genetics.

mRNA-seq whole transcriptome profiling of fresh frozen versus archived fixed tissues

E. Domany, S. Gilad, A. Yosepovich, 2018, BMC Genomics.

Protein recognition by a pattern-generating fluorescent molecular probe.

D. Margulies, T. Unger, B. Markus, 2017, Nature nanotechnology.

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

E. Manor, K. Elbedour, O. Birk, 2018, American journal of medical genetics. Part A.

Bartonella kosoyi sp. nov. and Bartonella krasnovii sp. nov., two novel species closely related to the zoonotic Bartonella elizabethae, isolated from black rats and wild desert rodent-fleas.

B. Markus, Congli Yuan, Tali Shalit, 2020, International journal of systematic and evolutionary microbiology.

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

G. Narkis, D. Landau, O. Birk, 2012, Human mutation.

Integration of SNP genotyping confidence scores in IBD inference

Dan Geiger, Barak Markus, Ohad S. Birk, 2011, Bioinform..

OTX2 Duplication Is Implicated in Hemifacial Microsomia

M. Gymrek, Yaniv Erlich, Dina Zielinski, 2014, PloS one.

OTX2 Dosage Sensitivity is Implicated in Hemifacial Microsomia

M. Gymrek, Yaniv Erlich, Dina Zielinski, 2013, bioRxiv.

Genomic structural plasticity of rodent‐associated Bartonella in nature

B. Markus, S. Covo, Einat Hazkani-Covo, 2022, Molecular ecology.

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

E. Leshinsky‐Silver, D. Lev, O. Birk, 2014, Journal of Medical Genetics.

Divergence of mutational signatures in association with breast cancer subtype

A. Yosepovich, I. Barshack, E. Friedman, 2022, Molecular carcinogenesis.

Quantitative analysis of population-scale family trees with millions of relatives

D. Geiger, D. MacArthur, M. Gymrek, 2018, Science.

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

G. Narkis, O. Birk, B. Markus, 2014, European Journal of Human Genetics.

Protein recognition by a pattern-generating fluorescent molecular probe.

D. Margulies, T. Unger, H. Barr, 2017, Nature nanotechnology.

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

O. Birk, B. Markus, Y. Perez, 2013, European Journal of Human Genetics.

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

O. Birk, B. Markus, I. Shelef, 2011, European Journal of Human Genetics.

Prophage-Driven Genomic Structural Changes Promote Bartonella Vertical Evolution

B. Markus, S. Covo, H. Hawlena, 2018, Genome biology and evolution.