Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes

Alejandro Ferrer; Abhishek A. Mangaonkar; Susanna Stroik; Michael T. Zimmermann; Ashley N. Sigafoos; Patrick S. Kamath; Douglas A. Simonetto; Mark E. Wylam; Eva M. Carmona; Konstantinos N. Lazaridis; Steve Peters; Keith Stewart; Eric W. Klee; Eric A. Hendrickson; Mrinal M. Patnaik

doi:10.1038/s41408-020-00386-z

Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes

Alejandro Ferrer
, Abhishek A. Mangaonkar
, Susanna Stroik
, Michael T. Zimmermann
, Ashley N. Sigafoos
, Patrick S. Kamath
, Douglas A. Simonetto
, Mark E. Wylam
, Eva M. Carmona
, Konstantinos N. Lazaridis
, Steve Peters
, Keith Stewart
, Eric W. Klee
, Eric A. Hendrickson
, Mrinal M. Patnaik

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

Original language	English (US)
Article number	120
Journal	Blood cancer journal
Volume	10
Issue number	11
DOIs	https://doi.org/10.1038/s41408-020-00386-z
State	Published - Nov 2020

ASJC Scopus subject areas

Hematology
Oncology

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10.1038/s41408-020-00386-z

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Ferrer, A., Mangaonkar, A. A., Stroik, S., Zimmermann, M. T., Sigafoos, A. N., Kamath, P. S., Simonetto, D. A., Wylam, M. E., Carmona, E. M., Lazaridis, K. N., Peters, S., Stewart, K., Klee, E. W., Hendrickson, E. A., & Patnaik, M. M. (2020). Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes. Blood cancer journal, 10(11), Article 120. https://doi.org/10.1038/s41408-020-00386-z

Ferrer, A, Mangaonkar, AA, Stroik, S, Zimmermann, MT, Sigafoos, AN, Kamath, PS , Simonetto, DA , Wylam, ME , Carmona, EM , Lazaridis, KN, Peters, S, Stewart, K, Klee, EW, Hendrickson, EA & Patnaik, MM 2020, 'Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes', Blood cancer journal, vol. 10, no. 11, 120. https://doi.org/10.1038/s41408-020-00386-z

@article{a37fd4abde024a46bfb665083d5d1eec,

title = "Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes",

author = "Alejandro Ferrer and Mangaonkar, \{Abhishek A.\} and Susanna Stroik and Zimmermann, \{Michael T.\} and Sigafoos, \{Ashley N.\} and Kamath, \{Patrick S.\} and Simonetto, \{Douglas A.\} and Wylam, \{Mark E.\} and Carmona, \{Eva M.\} and Lazaridis, \{Konstantinos N.\} and Steve Peters and Keith Stewart and Klee, \{Eric W.\} and Hendrickson, \{Eric A.\} and Patnaik, \{Mrinal M.\}",

note = "Funding Information: We thank the patients and their families for participating in this study. This research was funded internally by the Center for Individualized Medicine at Mayo Clinic.",

year = "2020",

month = nov,

doi = "10.1038/s41408-020-00386-z",

language = "English (US)",

volume = "10",

journal = "Blood cancer journal",

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T1 - Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes

AU - Ferrer, Alejandro

AU - Mangaonkar, Abhishek A.

AU - Stroik, Susanna

AU - Zimmermann, Michael T.

AU - Sigafoos, Ashley N.

AU - Kamath, Patrick S.

AU - Simonetto, Douglas A.

AU - Wylam, Mark E.

AU - Carmona, Eva M.

AU - Lazaridis, Konstantinos N.

AU - Peters, Steve

AU - Stewart, Keith

AU - Klee, Eric W.

AU - Hendrickson, Eric A.

AU - Patnaik, Mrinal M.

N1 - Funding Information: We thank the patients and their families for participating in this study. This research was funded internally by the Center for Individualized Medicine at Mayo Clinic.

PY - 2020/11

Y1 - 2020/11

UR - https://www.scopus.com/pages/publications/85096124110

UR - https://www.scopus.com/pages/publications/85096124110#tab=citedBy

U2 - 10.1038/s41408-020-00386-z

DO - 10.1038/s41408-020-00386-z

M3 - Letter

C2 - 33203829

AN - SCOPUS:85096124110

SN - 2044-5385

VL - 10

JO - Blood cancer journal

JF - Blood cancer journal

IS - 11

M1 - 120

ER -

Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes

ASJC Scopus subject areas

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