Matthew Avenarius, PhD
Assistant Professor-Clinical
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Innovation Centre
2001 Polaris Parkway, Room 1032
Columbus, OH 43240
Biosketch
Matthew Avenarius, PhD, is an Assistant Professor-Clinical in the Department of Pathology and serves as Associate Director of the Molecular Pathology Laboratory (Genetics). Dr. Avenarius earned his PhD in Human Genetics from the University of Michigan and did his postdoctoral research in the Barr-Gillespie lab at Oregon Health & Science University. He continued his training at Nationwide Children's Hospital where he completed his clinical molecular genetics and genomics, and clinical cytogenetics and genomics fellowship. Dr. Avenarius is a Diplomate of the American Board of Medical Genetics and Genomics with subspecialty certification in the areas of clinical molecular genetics and cytogenetics.
As Associate Director of the Molecular Pathology Laboratory, Dr. Avenarius is responsible for overseeing the development, validation, and implementation of new diagnostic assays and is active in clinical case sign-out. Dr. Avenarius' research interests include the genetics of hereditary hearing loss and spinal muscular atrophy.
Board Certifications
American Board of Medical Genetics and Genomics, Clinical Molecular Genetics and Genomics
American Board of Medical Genetics and Genomics, Clinical Cytogenetics and Genomics
Academic and Medical Appointments
2019-Present Assistant Professor-Clinical, Department of Pathology, The Ohio State University, Columbus, OH
2019-Present Associate Director, Molecular Pathology Laboratory (Genetics), The Ohio State University, Columbus, OH
Education and Training
2016-2019 Clinical Molecular & Cytogenetics Fellowship, Nationwide Children’s Hospital, Columbus, OH
2012-2016 Postdoctoral Fellowship, Oregon Health & Science University, Portland, OR
2006-2012 Ph.D., University of Michigan, Ann Arbor, MI
1999-2003 B.S., University of Iowa, Iowa City, IA
Selected Publications
- Ruhno C, McGovern V, Avenarius M, Snyder PJ, Prior TW, Nery FC, Swoboda K, Sinott J, Roggenbuck JS, Kissel JT, Sansone VA, Burghes AHM. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. Hum Genet. 2019 Mar;138(3):241-256
- Avenarius MR, Jung JY, Askew C, Jones SM, Hunker KL, Azaiez H, Rehman AU, Schraders M, Najmabadi H, Kremer H, Smith RJH, Geleoc GSG, Dolan DF, Raphael Y, Kohrman D. Grxcr2 is required for stereocilia morphogenesis in the cochlea. PLoS One. 2018 Aug 29;13(8)
- Morgan CP, Zhao H, LeMasurier M, Xiong W, Pan B, Avenarius MR, Bateschell M, Larisch R, Ricci AJ, Muller U, Barr-Gillespie PG. TRPV6, TRPM6, and TRPM7 do not contribute to hair-cell mechanotransduction. Front Cell Neurosci. 2018 Feb 20;12:41
- Miller KE, Kelly B, Fitch J, Ross N, Avenarius MR, Varga E, Koboldt DC, Boue DR, Magrini V, Coven SL, Finlay JL, Cottrell CE, White P, Gastier-Foster JM, Wilson RK, Leonard J, Mardis ER.Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma. Cold Spring Harb Mol Case Stud. 2018 Feb 6
- Avenarius MR, Krey JF, Dumont RA, Morgan CP, Benson CB, Vijayakumar S, Cunningham C, Scheffer DI, Corey DP, Muller U, Jones SM, Barr-Gillespie PG. Heterodimeric capping protein is required for stereocilia length and width regulation. J Cell Biol. 2017 Nov 6;216(11):3861-3881
- Ebrahim S, Avenarius MR, Grati M, Krey JF, Windsor AM, Sousa AD, Ballesteros A, Cui R, Millis BA, Salles FT, Baird MA, Davidson MW, Jones SM, Choi D, Dong L, Raval M, Yengo CM, Barr-Gillespie P, Kachar B. Stereocilia Staircase Regulation by the Motors Myosin-IIIa and -IIIb and their Cargos Espin-1 and Espin-like. Nature Communications. 2016 Mar 1;7:10833
- Avenarius MR, Saylor KW, Lundeberg MR, Wilmarth PA, Shin JB, Spinelli KJ, Pagana JM, Andrade L, Kachar B, Choi D, David LL, Barr-Gillespie PG. Correlation of Actin Crosslinker and Capper Expression Levels with Stereocilia Growth Phases. Mol Cell Proteomics. 2014 Feb;13(2):606-20
- Jung JY, Avenarius MR, Adamsky S, Alpert E, Feinstein E, Raphael Y. siRNA targeting Hes5 Augments Hair Cell Regeneration in Aminoglycoside-damaged Mouse Utricle. Mol Ther. 2013 April; 4, 834-841
- Zhao H, Avenarius MR, Gillespie PG. Improved biolistic transfection of hair cells. PLoS One. 2012;7(10):e46765
- Bazazzadegan N, Sheffield AM, Sobhani M, Kahrizi K, Meyer NC, Van Camp G, Hilgert N, Abedini SS, Habibi F, Daneshi A, Nishimura C, Avenarius MR, Farhadi M, Smith RJ, Najmabadi H. Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss. Am J Med Genet A. 2011 May;155A(5):1202-11
- Hildebrand MS, Avenarius MR, Fellous M, Zhang Y, Meyer NC, Auer J, Serres C, Kahrizi K, Najmabadi H, Beckmann JS, Smith RJ. Genetic male infertility and mutation of CATSPER ion channels. Eur J Hum Genet. 2010 Nov;18(11):1178-84
- Odeh H, Hunker KL, Belyantseva IA, Azaiez H, Avenarius MR, Zheng L, Peters LM, Gagnon LH, Hagiwara N, Skynner MJ, Brilliant MH, Allen ND, Riazuddin S, Johnson KR, Raphael Y, Najmabadi H, Friedman TB, Bartles JR, Smith RJ, Kohrman DC. Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse. Am J Hum Genet. 2010 Feb 12;86(2):148-606
- Hildebrand MS, Avenarius MR, Smith RJH. CATSPER-Related Male Infertility. GeneReviews. University of Washington, Seattle; 2009 Dec 03 [updated 2012 Aug 09]
- Avenarius MR, Hildebrand MS, Zhang Y, Meyer NC, Smith LL, Kahrizi K, Najmabadi H, Smith RJ. Human male infertility caused by mutations in the CATSPER1 channel protein. Am J Hum Genet. 2009 Apr;84(4):505-10
- Howell VM, Jones JM, Bergren SK, Li L, Billi AC, Avenarius MR, Meisler MH. Evidence for a direct role of the disease modifier SCNM1 in splicing. Hum Mol Genet. 2007 Oct 15;16(20):2506-16
- Schwander M, Sczaniecka A, Grillet N, Bailey JS, Avenarius M, Najmabadi H, Steffy BM, Gedere GC, Lagler EA, Banan R, Hice R, Grabowski-Boase L, Keithley EM, Ryan AF, Housley GD, Wiltshire T, Smith RJ, Tarantino LM, Muller U. A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J Neurosci. 2007 Feb 28;27(9):2163-75
- Excoffon KJ, Avenarius MR, Hansen MR, Kimberling WJ, Najmabadi H, Smith RJ, Zabner J. The Coxsackievirus and Adenovirus Receptor: a new adhesion protein in cochlear development. Hear Res. 2006 May;215(1-2):1-9
- Varga R, Avenarius MR, Kelley PM, Keats BJ, Berlin CI, Hood LJ, Morlet TG, Brashears SM, Starr A, Cohn ES, Smith RJ, Kimberling WJ. OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. J Med Genet. 2006 Jul;43(7):576-81
- del Castillo FJ, Rodriguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martin Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, Van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I. 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. J Med Genet. 2005 Jul;42(7):588-94
- Najmabadi H, Nishimura C, Kahrizi K, Riazalhosseini Y, Malekpour M, Daneshi A, Farhadi M, Mohseni M, Mahdieh N, Ebrahimi A, Bazazzadegan N, Naghavi A, Avenarius M, Arzhangi S, Smith RJ. GJB2 mutations: passage through Iran.Am J Med Genet A.2005 Mar 1;133A(2):132-7