Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi; David J. Szmulewicz; Mark F. Bennett; Nara L.m. Sobreira; Kate Pope; Katherine R. Smith; Greta Gillies; Peter Diakumis; Egor Dolzhenko; Michael A. Eberle; María García Barcina; David P. Breen; Andrew M. Chancellor; Phillip D. Cremer; Martin B. Delatycki; Brent L. Fogel; Anna Hackett; G. Michael Halmagyi; Solange Kapetanovic; Anthony Lang; Stuart Mossman; Weiyi Mu; Peter Patrikios; Susan L. Perlman; Ian Rosemergy; Elsdon Storey; Shaun R.d. Watson; Michael A. Wilson; David S. Zee; David Valle; David J. Amor; Melanie Bahlo; Paul J. Lockhart

doi:10.1016/j.ajhg.2019.05.016

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett, Nara L.m. Sobreira, Kate Pope, Katherine R. Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A. Eberle, María García Barcina, David P. Breen, Andrew M. Chancellor, Phillip D. Cremer, Martin B. Delatycki, Brent L. Fogel, Anna Hackett, G. Michael Halmagyi, Solange Kapetanovic, Anthony LangStuart Mossman, Weiyi Mu, Peter Patrikios, Susan L. Perlman, Ian Rosemergy, Elsdon Storey, Shaun R.d. Watson, Michael A. Wilson, David S. Zee, David Valle, David J. Amor, Melanie Bahlo, Paul J. Lockhart

Research output: Contribution to journal › Article › peer-review

Original language	English
Journal	American Journal of Human Genetics
Early online date	20 Jun 2019
DOIs	https://doi.org/10.1016/j.ajhg.2019.05.016
Publication status	E-pub ahead of print - 20 Jun 2019

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10.1016/j.ajhg.2019.05.016

PIIS0002929719302034Final published version, 2.15 MBLicence: CC BY

https://linkinghub.elsevier.com/retrieve/pii/S0002929719302034

Cite this

Rafehi, H., Szmulewicz, D. J., Bennett, M. F., Sobreira, N. L. M., Pope, K., Smith, K. R., Gillies, G., Diakumis, P., Dolzhenko, E., Eberle, M. A., Barcina, M. G., Breen, D. P., Chancellor, A. M., Cremer, P. D., Delatycki, M. B., Fogel, B. L., Hackett, A., Halmagyi, G. M., Kapetanovic, S., ... Lockhart, P. J. (2019). Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2019.05.016

@article{77f40997ef6f40978bcfba27e238810d,

title = "Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS",

author = "Haloom Rafehi and Szmulewicz, {David J.} and Bennett, {Mark F.} and Sobreira, {Nara L.m.} and Kate Pope and Smith, {Katherine R.} and Greta Gillies and Peter Diakumis and Egor Dolzhenko and Eberle, {Michael A.} and Barcina, {Mar{\'i}a Garc{\'i}a} and Breen, {David P.} and Chancellor, {Andrew M.} and Cremer, {Phillip D.} and Delatycki, {Martin B.} and Fogel, {Brent L.} and Anna Hackett and Halmagyi, {G. Michael} and Solange Kapetanovic and Anthony Lang and Stuart Mossman and Weiyi Mu and Peter Patrikios and Perlman, {Susan L.} and Ian Rosemergy and Elsdon Storey and Watson, {Shaun R.d.} and Wilson, {Michael A.} and Zee, {David S.} and David Valle and Amor, {David J.} and Melanie Bahlo and Lockhart, {Paul J.}",

year = "2019",

month = jun,

day = "20",

doi = "10.1016/j.ajhg.2019.05.016",

language = "English",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

}

Rafehi, H, Szmulewicz, DJ, Bennett, MF, Sobreira, NLM, Pope, K, Smith, KR, Gillies, G, Diakumis, P, Dolzhenko, E, Eberle, MA, Barcina, MG, Breen, DP, Chancellor, AM, Cremer, PD, Delatycki, MB, Fogel, BL, Hackett, A, Halmagyi, GM, Kapetanovic, S, Lang, A, Mossman, S, Mu, W, Patrikios, P, Perlman, SL, Rosemergy, I, Storey, E, Watson, SRD, Wilson, MA, Zee, DS, Valle, D, Amor, DJ, Bahlo, M & Lockhart, PJ 2019, 'Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS', American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2019.05.016

TY - JOUR

T1 - Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

AU - Rafehi, Haloom

AU - Szmulewicz, David J.

AU - Bennett, Mark F.

AU - Sobreira, Nara L.m.

AU - Pope, Kate

AU - Smith, Katherine R.

AU - Gillies, Greta

AU - Diakumis, Peter

AU - Dolzhenko, Egor

AU - Eberle, Michael A.

AU - Barcina, María García

AU - Breen, David P.

AU - Chancellor, Andrew M.

AU - Cremer, Phillip D.

AU - Delatycki, Martin B.

AU - Fogel, Brent L.

AU - Hackett, Anna

AU - Halmagyi, G. Michael

AU - Kapetanovic, Solange

AU - Lang, Anthony

AU - Mossman, Stuart

AU - Mu, Weiyi

AU - Patrikios, Peter

AU - Perlman, Susan L.

AU - Rosemergy, Ian

AU - Storey, Elsdon

AU - Watson, Shaun R.d.

AU - Wilson, Michael A.

AU - Zee, David S.

AU - Valle, David

AU - Amor, David J.

AU - Bahlo, Melanie

AU - Lockhart, Paul J.

PY - 2019/6/20

Y1 - 2019/6/20

U2 - 10.1016/j.ajhg.2019.05.016

DO - 10.1016/j.ajhg.2019.05.016

M3 - Article

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

ER -