B. Markus

发表

OTX2 Duplication Is Implicated in Hemifacial Microsomia

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

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

Yaniv Erlich, Melissa Gymrek, Alkes L. Price, 2017, bioRxiv.

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

Dan Geiger, Yaniv Erlich, Melissa Gymrek, 2017, Science.

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.

Deciphering the fine-structure of tribal admixture in the Bedouin population using genomic data

O. Birk, B. Markus, I. Alshafee, 2013, Heredity.

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.

Protein recognition by a pattern-generating fluorescent molecular probe.

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

Genomic structural plasticity of rodent‐associated Bartonella in nature

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

Divergence of mutational signatures in association with breast cancer subtype

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

OTX2 Duplication Is Implicated in Hemifacial Microsomia benefits you. Your story

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

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

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

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

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

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.

Mechanotransduction via the LINC complex regulates DNA replication in myonuclei

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

Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.

V. Sheffield, O. Birk, B. Markus, 2013, The Journal of clinical endocrinology and metabolism.

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

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

A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta

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

Integration of SNP genotyping confidence scores in IBD inference

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

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

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

OTX2 Dosage Sensitivity is Implicated in Hemifacial Microsomia

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

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.

Prophage-Driven Genomic Structural Changes Promote Bartonella Vertical Evolution

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

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

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

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

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

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

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

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.