M. Avenarius

发表

Improved Biolistic Transfection of Hair Cells

Hongyu Zhao, M. Avenarius, P. Gillespie, 2012, PloS one.

Correlation of Actin Crosslinker and Capper Expression Levels with Stereocilia Growth Phases.

Dongseok Choi, B. Kachar, L. Andrade, 2014, Molecular & cellular proteomics : MCP.

temperature-sensitive auditory neuropathy allele Running Title : A potential OTOF temperature-sensitive allele

A. Starr, C. Berlin, B. Keats, 2005 .

Grxcr2 is required for stereocilia morphogenesis in the cochlea

Y. Raphael, H. Kremer, Sherri M Jones, 2018, PloS one.

The Coxsackievirus and Adenovirus Receptor: A new adhesion protein in cochlear development

W. Kimberling, M. Hansen, H. Najmabadi, 2006, Hearing Research.

siRNA targeting Hes5 augments hair cell regeneration in aminoglycoside-damaged mouse utricle.

Y. Raphael, E. Feinstein, M. Avenarius, 2013, Molecular therapy : the journal of the American Society of Gene Therapy.

Heterodimeric capping protein is required for stereocilia length and width regulation

D. Corey, U. Müller, J. F. Krey, 2017 .

Corrigendum: Stereocilia-staircase spacing is influenced by myosin III motors and their cargos espin-1 and espin-like

Bryan A. Millis, M. Davidson, Dongseok Choi, 2017, Nature Communications.

Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma

Elaine R. Mardis, Daniel C. Koboldt, Jeffrey Leonard, 2018, Cold Spring Harbor molecular case studies.

The clinical utility of a risk‐modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity

M. Avenarius, Dan Jones, Cecelia R. Miller, 2022, Molecular genetics & genomic medicine.

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

A. Pandya, C. Petit, D. Weil, 2005, Journal of Medical Genetics.

A Forward Genetics Screen in Mice Identifies Recessive Deafness Traits and Reveals That Pejvakin Is Essential for Outer Hair Cell Function

L. Tarantino, T. Wiltshire, U. Müller, 2007, The Journal of Neuroscience.

Genetic Characterization of Pediatric Sarcomas by Targeted RNA Sequencing.

R. Wilson, E. Mardis, J. Gastier-Foster, 2020, The Journal of molecular diagnostics : JMD.

EGFR internal tandem duplications in fusion‐negative congenital and neonatal spindle cell tumors

E. Mardis, M. Avenarius, S. LaHaye, 2022, Genes, chromosomes & cancer.

Stereocilia-staircase spacing is influenced by myosin III motors and their cargos espin-1 and espin-like

Bryan A. Millis, M. Davidson, Dongseok Choi, 2016, Nature Communications.

Genetic male infertility and mutation of CATSPER ion channels

Marc Fellous, Jacques S Beckmann, J. Beckmann, 2010, European Journal of Human Genetics.

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss

M. Farhadi, K. Kahrizi, H. Najmabadi, 2011, American journal of medical genetics. Part A.

Evidence for a direct role of the disease modifier SCNM1 in splicing.

M. Meisler, Sarah K. Bergren, M. Avenarius, 2007, Human molecular genetics.

CATSPER-Related Male Infertility

M. Avenarius, M. Hildebrand, Richard J. H. Smith, 2014 .

Distinct Patterns of Emergence of SARS-CoV-2 Spike Variants including N501Y in Clinical Samples in Columbus Ohio

L. Kubatko, P. Pancholi, M. Avenarius, 2021, bioRxiv.

Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype

T. Prior, K. Swoboda, J. Kissel, 2019, Human Genetics.

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

B J Keats, L J Hood, C I Berlin, 2005, Journal of Medical Genetics.

Human male infertility caused by mutations in the CATSPER1 channel protein.

K. Kahrizi, H. Najmabadi, M. Avenarius, 2009, American journal of human genetics.

Corrigendum: Stereocilia-staircase spacing is influenced by myosin III motors and their cargos espin-1 and espin-like

Bryan A. Millis, M. Davidson, Dongseok Choi, 2017, Nature Communications.

Correlation of Actin Crosslinker and Capper Expression Levels with Stereocilia Growth Phases*

Dongseok Choi, B. Kachar, L. Andrade, 2013, Molecular & Cellular Proteomics.

Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse.

Y. Raphael, M. Brilliant, S. Riazuddin, 2010, American journal of human genetics.

GJB2 mutations: Passage through Iran

Y. Riazalhosseini, M. Farhadi, K. Kahrizi, 2005, American journal of medical genetics. Part A.

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth

Michael T. Zimmermann, Jeffrey N. Dudley, V. Magrini, 2021, Genetics in Medicine.

Heterodimeric capping protein is required for stereocilia length and width regulation

D. Corey, U. Müller, J. F. Krey, 2017, The Journal of cell biology.

Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype

T. Prior, K. Swoboda, J. Kissel, 2019, Human Genetics.

TRPV5, TRPV6, TRPM6, and TRPM7 do not contribute to hair-cell mechanotransduction

U. Müller, Hongyu Zhao, M. Avenarius, 2017, bioRxiv.