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List of Publications


Key/Recent Publications

  1. TOBIAS, E.S., CONNOR, M., FERGUSON-SMITH, M.A. (2011) Essential Medical Genetics, sixth edition. Wiley-Blackwell, Oxford.
  2. GOUDIE, D.R., D'ALLESSANDRO, M., MERRIMAN, B., LEE, H., SZEVERENYI, I., AVERY, S., O’CONNOR, B.D., NELSON, S.F., COATS, S.T., STEWART, A., CHRISTIE, L., PICHERT, G., FRIEDEL, J., HATES, I., BURROWS, N., WHITTAKER, S., GERDES, A., BROESBY-OLSEN, S., FERGUSON-SMITH, M.A., VERMA, C., LUNNY, D.F., REVERSADE, B., LANE, E.B. (2011) Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.  Nature Genetics 47:365-369.
  3. PARIA, N., RAUDSEPP, T., WILKERSON, AJ., O’BRIEN, PCM., FERGUSON-SMITH, MA., LOVE, CC., ARNOLD, C., RAKESTRAW, P., MURPHY, WJ., CHOWDHARY, BP. (2011) A gene catalogue of the euchromatic male specific region of the horse Y chromosome: comparison with human and other mammals. PloS One.
  4. .   TRIFONOV, VA., GIOVANNOTTI, M., O’BRIEN, PCM., WALLDUCK, M., LOVELL, F., RENS, W., PARISE-MALTEMPI, PP., CAPUTO, V., FERGUSON-SMITH, MA. (2011) Chromosomal evolution in Gekkonidae I. Chromosome painting between Gekko and Hemidactylus species reveals phylogenetic relationships within the group. Chromosome Res. 19:843-855.
  5. FERGUSON- SMITH, MA. (2011) Putting medical genetics into practice. Annual Review of Genomics and Human Genetics 12:1-23.
  6. KASAI, F., O’BRIEN, PCM., FERGUSON-SMITH, MA. (2012) Reassessment of genome size in turtle and crocodile based on chromosome measurement by flow karyotyping: close similarity to chicken. Biology Letters 8:631-635.  doi:10.1098/rsbl.2012.0141.
  7. POKORNÁ, M., GIOVANNOTTI, M., KRATOCHVÍL, L., CAPUTO, V., OLMO, E., FERGUSON-SMITH, MA., RENS, W. (2012) Conservation of chromosomes syntenic with avian autosomes in squamate reptiles revealed by comparative chromosome painting. Chromosoma 121: 409-418.
  8. FERGUSON-SMITH, MA. (2012) Chromosome homology and evolution in mammals, birds and reptiles: hypothesis on the role of non-coding DNA, in Evolutionary Dynamics of Mammalian Karyotypes, edited by R. Stanyon and A. Graphodatsky.  Cytogenet.Genome Res. 137:88-89
  9. LI, G., DAVIS, BW., RAUDSEPP, T., PEARKS-WILKERSON, A., MASON, VC., FERGUSON-SMITH, MA., O’BRIEN, PCM., MURPHY, WJ. (2013) Comparative analysis of mammalian Y chromosomes illuminates ancestral structure and lineage-specific evolution. Genome Research. 23:1486-1495; doi:10.1101/gr.1542.
  10. TRIFONOV, VA., DEMENTYEVA, PV., LARKIN, DM., O’BRIEN, PCM, PERELMAN, PL., YANG, F., FERGUSON-SMITH, MA., GRAPHODATSKY, AS. (2013) Transcription of a protein-coding gene on B chromosomes of the Siberian roe deer (Capreolus pygargus).  BMC Biology11:90
  11. KASAI, F., O’BRIEN, PCM., FERGUSON-SMITH, MA. (2013) Afrotheria genome; overestimation of genome size and distinct chromosome GC content revealed by flow karyotyping. Genomics 102:468-471.
  12. NAGAMACHI, CY., PIECZARKA, JC., MILHOMEN, SSR., BATISTA, JA., O’BRIEN, PCM., FERGUSON-SMITH, MA. (2013). Chromosome painting reveals multiple rearrangements between Gymnotus capenema and Gymnotus carapo (Gymnotidae, Gymnotoformes). Cytogenet.Genome Res. 414:163-168. DOI:10.1159/000354988.
  13. FERGUSON-SMITH, MA., GOUDIE, DR. (2014) Digenic/multilocus aetiology of multiple self-healing squamous epithelioma (Ferguson-Smith disease): TGFBR1 and a second linked locus. Int J Biochem Cell Biol.,
  14. FURO, I de O., KRETCHMER, R., O’BRIEN, PCM., FERGUSON-SMITH, MA., de OLIVIERA, EHC. (2015) Chromosomal diversity and karyotype evolution in South American macaws (Psittaciformes, Psittacidae). PLoS ONE 10(6): e0130157. doi: 10.1371/journal.pone.0130157.
  15. SEIBOLD-TORRES, C., OWENS, E., CHOWDHARY, R., FERGUSON-SMITH, MA., RAUDSEPP, T. (2015) Comparative cytogenetics of the Congo African grey parrot (Psittacus erithacus). Cytogenet.Genome Res.147:144-153.
  16. TOMASZKIEWICZ, M., RANGAVITTAL, S., CECHOVA, M., SANCHEZ, RC., FESCEMEYER, H., HARRIS, R., YE, D., O'BRIEN, PCM., CHIKHI, R., RYDER, O., FERGUSON-SMITH, MA., MEDVEDEV, P., MAKOVA, K.  (2016) A time- and cost-effective strategy to sequence mammalian Y chromosomes: an application to the de novo assembly of gorilla Y.  Genome Research 26:530-540.
  17. KICHIGIN, IG., GIOVANNOTTI, M., MAKUNIN, AI., NG, BL, KABILOV, MR.,TUPIKIN, AE., BARUCCHI, VC., SPLENDIANI, A., RUGGERI, P., RENS, W., O'BRIEN,PCM., FERGUSON-SMITH, MA., GRAPHODATSKY, AS., TRIFONOV, VA. (2016). Evolutionary dynamics of Anolis sex chromosome revealed by sequencing of flow sorting derived microchromosome-specific DNA. Molecular Genetics and Genomics 291:1955-1966. DOI 10.1007/s00438-016-1230-z.
  18. GIOVANNOTTI, M., TRIFONOV, VA., PAOLETTI, A., KICHIGIN, IG., O’BRIEN, PCM., KASAI, F., GIOVAGNOLI, G.,  NG, BL., RUGGERI, P., CERIONI,PN., SPLENDIANI, A., PEREIRA, JC., OLMO, E., BARUCCI, VC., FERGUSON-SMITH, MA. (2017) New insights into sex chromosome evolution in anole lizards (Reptilia, Dactyloidae).  Chromosoma 126:245-260. DOI 10.1007/s00412-016-0585-6.
  19. DEGRANDI, TM., del VALLE GARNERO, A., O’BRIEN, PCM., FERGUSON-SMITH, MA., KRETSCHMER, R., de OLIVEIRA, EHC., GUNSKI, RJ. (2017) Chromosome painting in Trogon s. surrucura (Aves, Trogoniformes) reveals a karyotype derived by chromosomal fissions, fusions, and inversions. Cytogenet.Genome Res. 151:208-215. DOI: 10.1159/000471782.
  20. KASAI, F., PEREIRA, JC., KOHARA, A., FERGUSON-SMITH, MA. (2018) Homologue-specific chromosome sequencing characterizes translocation junctions and permits allelic assignment.  DNA Research. doi: 10.1093/dnares/dsy007.
  21. O’CONNOR, R., ROMANOV, M., KIAZIM, L., BARRETT, P., FARRE, M., DAMAS, J., FERGUSON-SMITH, M., VALENZUELA, N., LARKIN, D., GRIFFIN, D. (2018) Reconstruction of genome organization in the diapsid common ancestor permits tracing of chromosomal evolution in avian and non-avian dinosaurs. Nature Communications 9:1883. doi:10.1038/s41467-018-04267-9.