Martin Breuss, PhD
Assistant Professor, Pediatrics-Clinical Genetics and Metabolism

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Graduate School :
  • PhD, University of Vienna (2013)
Languages: English, German
Department: Pediatrics-Clinical Genetics and Metabolism

Recognition & Awards

  • ASCINA Young Scientist Award, Austrian Scientists & Scholars in North America (ASCINA) (2020)
    ASCINA awards two young scientists (pre-PI level) each year with this award in recognition of their published scholarly work.

Research Interests

Genomic Mosaicism, Sperm Mosaicism and Recurrence Risk, Neurodevelopment

Publications

  • Ghosh SG, Scala M, Beetz C, Helman G, Stanley V, Yang X, Breuss MW, Mazaheri N, Selim L, Hadipour F, Pais L, Stutterd CA, Karageorgou V, Begtrup A, Crunk A, Juusola J, Willaert R, Flore LA, Kennelly K, Spencer C, Brown M, Trapane P, Hurst ACE, Lane Rutledge S, Goodloe DH, McDonald MT, Shashi V, Schoch K, Tomoum H, Zaitoun R, Hadipour Z, Galehdari H, Pagnamenta AT, Mojarrad M, Sedaghat A, Dias P, Quintas S, Eslahi A, Shariati G, Bauer P, Simons C, Houlden H, Issa MY, Zaki MS, Maroofian R, Gleeson JG. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet. 2021 Feb;29(2):271-279. PubMed PMID: 32901138
  • Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, Pais LS, Lovgren AK, VanNoy GE, Rehm HL, Mirzaa G, Leon E, Diaz J, Neumann A, Kalverda AP, Manfield IW, Parry DA, Logan CV, Johnson CA, Bonthron DT, Valleley EMA, Issa MY, Abdel-Ghafar SF, Abdel-Hamid MS, Jennings P, Zaki MS, Sheridan E, Gleeson JG. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron. 2021 Jan 20;109(2):241-256.e9. PubMed PMID: 33220177
  • Ghosh SG, Wang L, Breuss MW, Green JD, Stanley V, Yang X, Ross D, Traynor BJ, Alhashem AM, Azam M, Selim L, Bastaki L, Elbastawisy HI, Temtamy S, Zaki M, Gleeson JG. Recurrent homozygous damaging mutation in TMX2 , encoding a protein disulfide isomerase, in four families with microlissencephaly. J Med Genet. 2020 Apr;57(4):274-282. PubMed PMID: 31586943
  • Breuss MW, Antaki D, George RD, Kleiber M, James KN, Ball LL, Hong O, Mitra I, Yang X, Wirth SA, Gu J, Garcia CAB, Gujral M, Brandler WM, Musaev D, Nguyen A, McEvoy-Venneri J, Knox R, Sticca E, Botello MCC, Uribe Fenner J, Pérez MC, Arranz M, Moffitt AB, Wang Z, Hervás A, Devinsky O, Gymrek M, Sebat J, Gleeson JG. Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nat Med. 2020 Jan;26(1):143-150. PubMed PMID: 31873310
  • Garcia CAB, Carvalho SCS, Yang X, Ball LL, George RD, James KN, Stanley V, Breuss MW, Thomé U, Santos MV, Saggioro FP, Neder Serafini L, Silva WA Jr, Gleeson JG, Machado HR. mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly. Epilepsia Open. 2020 Mar;5(1):97-106. PubMed PMID: 32140648
  • Breuss MW, Mamerto A, Renner T, Waters ER. The Evolution of the Mammalian ABCA6-like Genes: Analysis of Phylogenetic, Expression, and Population Genetic Data Reveals Complex Evolutionary Histories. Genome Biol Evol. 2020 Nov 3;12(11):2093-2106. PubMed PMID: 32877505
  • Gstrein T, Edwards A, Pristoupilová A, Leca I, Breuss M, Pilat-Carotta S, Hansen AH, Tripathy R, Traunbauer AK, Hochstoeger T, Rosoklija G, Repic M, Landler L, Stránecký V, Dürnberger G, Keane TM, Zuber J, Adams DJ, Flint J, Honzik T, Gut M, Beltran S, Mechtler K, Sherr E, Kmoch S, Gut I, Keays DA. Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans. Nat Neurosci. 2018 Aug;21(8):1139. PubMed PMID: 29875394
  • Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yilmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG. Biallelic loss of human CTNNA2, encoding aN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet. 2018 Aug;50(8):1093-1101. PubMed PMID: 30013181
  • Breuss MW, Nguyen A, Song Q, Nguyen T, Stanley V, James KN, Musaev D, Chai G, Wirth SA, Anzenberg P, George RD, Johansen A, Ali S, Zia-Ur-Rehman M, Sultan T, Zaki MS, Gleeson JG. Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. Am J Hum Genet. 2018 Aug 2;103(2):296-304. PubMed PMID: 30032983
  • Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA. Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. 2018 Dec 19;100(6):1354-1368.e5. PubMed PMID: 30449657
  • Breuss MW, Hansen AH, Landler L, Keays DA. Brain-specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition. Behav Brain Res. 2017 Apr 14;323:47-55. PubMed PMID: 28130172
  • Breuss MW, Nguyen T, Srivatsan A, Leca I, Tian G, Fritz T, Hansen AH, Musaev D, McEvoy-Venneri J, James KN, Rosti RO, Scott E, Tan U, Kolodner RD, Cowan NJ, Keays DA, Gleeson JG. Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability. Hum Mol Genet. 2017 Jan 15;26(2):258-269. PubMed PMID: 28013290
  • Breuss MW, Leca I, Gstrein T, Hansen AH, Keays DA. Tubulins and brain development - The origins of functional specification. Mol Cell Neurosci. 2017 Oct;84:58-67. PubMed PMID: 28347630
  • Breuss M, Fritz T, Gstrein T, Chan K, Ushakova L, Yu N, Vonberg FW, Werner B, Elling U, Keays DA. Mutations in the murine homologue of TUBB5 cause microcephaly by perturbing cell cycle progression and inducing p53-associated apoptosis. Development. 2016 Apr 1;143(7):1126-33. PubMed PMID: 26903504
  • Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Am J Hum Genet. 2016 Jul 7;99(1):228-35. PubMed PMID: 27392077
  • Breuss MW, Gleeson JG. When size matters: CHD8 in autism. Nat Neurosci. 2016 Oct 26;19(11):1430-1432. PubMed PMID: 27786184
  • Isrie M, Breuss M, Tian G, Hansen AH, Cristofoli F, Morandell J, Kupchinsky ZA, Sifrim A, Rodriguez-Rodriguez CM, Dapena EP, Doonanco K, Leonard N, Tinsa F, Moortgat S, Ulucan H, Koparir E, Karaca E, Katsanis N, Marton V, Vermeesch JR, Davis EE, Cowan NJ, Keays DA, Van Esch H. Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. Am J Hum Genet. 2015 Dec 3;97(6):790-800. PubMed PMID: 26637975
  • Breuss M, Morandell J, Nimpf S, Gstrein T, Lauwers M, Hochstoeger T, Braun A, Chan K, Sánchez Guajardo ER, Zhang L, Suplata M, Heinze KG, Elsayad K, Keays DA. The Expression of Tubb2b Undergoes a Developmental Transition in Murine Cortical Neurons. J Comp Neurol. 2015 Oct 15;523(15):2161-86. PubMed PMID: 26105993
  • Breuss M, Keays DA. Microtubules and neurodevelopmental disease: the movers and the makers. Adv Exp Med Biol. 2014;800:75-96. PubMed PMID: 24243101
  • Ngo L, Haas M, Qu Z, Li SS, Zenker J, Teng KS, Gunnersen JM, Breuss M, Habgood M, Keays DA, Heng JI. TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons. Hum Mol Genet. 2014 Oct 1;23(19):5147-58. PubMed PMID: 24833723
  • Treiber CD, Salzer M, Breuss M, Ushakova L, Lauwers M, Edelman N, Keays DA. High resolution anatomical mapping confirms the absence of a magnetic sense system in the rostral upper beak of pigeons. Commun Integr Biol. 2013 Jul 1;6(4):e24859. PubMed PMID: 23940826
  • Breuss M, Heng JI, Poirier K, Tian G, Jaglin XH, Qu Z, Braun A, Gstrein T, Ngo L, Haas M, Bahi-Buisson N, Moutard ML, Passemard S, Verloes A, Gressens P, Xie Y, Robson KJ, Rani DS, Thangaraj K, Clausen T, Chelly J, Cowan NJ, Keays DA. Mutations in the ß-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Rep. 2012 Dec 27;2(6):1554-62. PubMed PMID: 23246003
  • Treiber CD, Salzer MC, Riegler J, Edelman N, Sugar C, Breuss M, Pichler P, Cadiou H, Saunders M, Lythgoe M, Shaw J, Keays DA. Clusters of iron-rich cells in the upper beak of pigeons are macrophages not magnetosensitive neurons. Nature. 2012 Apr 11;484(7394):367-70. PubMed PMID: 22495303
  • Edwards A, Treiber CD, Breuss M, Pidsley R, Huang GJ, Cleak J, Oliver PL, Flint J, Keays DA. Cytoarchitectural disruption of the superior colliculus and an enlarged acoustic startle response in the Tuba1a mutant mouse. Neuroscience. 2011 Nov 10;195:191-200. PubMed PMID: 21875651
  • Braun A, Breuss M, Salzer MC, Flint J, Cowan NJ, Keays DA. Tuba8 is expressed at low levels in the developing mouse and human brain. Am J Hum Genet. 2010 May 14;86(5):819-22; author reply 822-3. PubMed PMID: 20466094
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Professional Memberships

  • American Society of Human Genetics, Member
  • European Society of Human Genetics, Member
Public Speaking
Yes

General Information

Graduate Schools:
  • PhD, University of Vienna (2013)
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Languages: English, German
Department: Pediatrics-Clinical Genetics and Metabolism
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