Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of walker-warburg syndrome

M. Chiara Manzini; Dimira E. Tambunan; R. Sean Hill; Tim W. Yu; Thomas M. Maynard; Erin L. Heinzen; Kevin V. Shianna; Christine R. Stevens; Jennifer N. Partlow; Brenda J. Barry; Jacqueline Rodriguez; Vandana A. Gupta; Abdel Karim Al-Qudah; Wafaa M. Eyaid; Jan M. Friedman; Mustafa A. Salih; Robin Clark; Isabella Moroni; Marina Mora; Alan H. Beggs; Stacey B. Gabriel; Christopher A. Walsh

doi:10.1016/j.ajhg.2012.07.009

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of walker-warburg syndrome

M. Chiara Manzini
, Dimira E. Tambunan
, R. Sean Hill
, Tim W. Yu
, Thomas M. Maynard
, Erin L. Heinzen
, Kevin V. Shianna
, Christine R. Stevens
, Jennifer N. Partlow
, Brenda J. Barry
, Jacqueline Rodriguez
, Vandana A. Gupta
, Abdel Karim Al-Qudah
, Wafaa M. Eyaid
, Jan M. Friedman
, Mustafa A. Salih
, Robin Clark
, Isabella Moroni
, Marina Mora
, Alan H. Beggs

Stacey B. Gabriel, Christopher A. Walsh

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

Original language	English
Pages (from-to)	541-547
Number of pages	7
Journal	American Journal of Human Genetics
Volume	91
Issue number	3
DOIs	https://doi.org/10.1016/j.ajhg.2012.07.009
State	Published - Sep 7 2012

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

Keywords

Exome
Glycosyltransferases/genetics
Humans
Walker-Warburg Syndrome/genetics
Mutation

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10.1016/j.ajhg.2012.07.009

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Manzini, M. C., Tambunan, D. E., Hill, R. S., Yu, T. W., Maynard, T. M., Heinzen, E. L., Shianna, K. V., Stevens, C. R., Partlow, J. N., Barry, B. J., Rodriguez, J., Gupta, V. A., Al-Qudah, A. K., Eyaid, W. M., Friedman, J. M., Salih, M. A., Clark, R., Moroni, I., Mora, M., ... Walsh, C. A. (2012). Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of walker-warburg syndrome. American Journal of Human Genetics, 91(3), 541-547. https://doi.org/10.1016/j.ajhg.2012.07.009

Manzini, MC, Tambunan, DE, Hill, RS, Yu, TW, Maynard, TM, Heinzen, EL, Shianna, KV, Stevens, CR, Partlow, JN, Barry, BJ, Rodriguez, J, Gupta, VA, Al-Qudah, AK, Eyaid, WM, Friedman, JM, Salih, MA, Clark, R, Moroni, I, Mora, M, Beggs, AH, Gabriel, SB & Walsh, CA 2012, 'Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of walker-warburg syndrome', American Journal of Human Genetics, vol. 91, no. 3, pp. 541-547. https://doi.org/10.1016/j.ajhg.2012.07.009

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title = "Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of walker-warburg syndrome",

keywords = "Exome, Glycosyltransferases/genetics, Humans, Walker-Warburg Syndrome/genetics, Mutation",

author = "Manzini, \{M. Chiara\} and Tambunan, \{Dimira E.\} and Hill, \{R. Sean\} and Yu, \{Tim W.\} and Maynard, \{Thomas M.\} and Heinzen, \{Erin L.\} and Shianna, \{Kevin V.\} and Stevens, \{Christine R.\} and Partlow, \{Jennifer N.\} and Barry, \{Brenda J.\} and Jacqueline Rodriguez and Gupta, \{Vandana A.\} and Al-Qudah, \{Abdel Karim\} and Eyaid, \{Wafaa M.\} and Friedman, \{Jan M.\} and Salih, \{Mustafa A.\} and Robin Clark and Isabella Moroni and Marina Mora and Beggs, \{Alan H.\} and Gabriel, \{Stacey B.\} and Walsh, \{Christopher A.\}",

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doi = "10.1016/j.ajhg.2012.07.009",

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AU - Manzini, M. Chiara

AU - Tambunan, Dimira E.

AU - Hill, R. Sean

AU - Yu, Tim W.

AU - Maynard, Thomas M.

AU - Heinzen, Erin L.

AU - Shianna, Kevin V.

AU - Stevens, Christine R.

AU - Partlow, Jennifer N.

AU - Barry, Brenda J.

AU - Rodriguez, Jacqueline

AU - Gupta, Vandana A.

AU - Al-Qudah, Abdel Karim

AU - Eyaid, Wafaa M.

AU - Friedman, Jan M.

AU - Salih, Mustafa A.

AU - Clark, Robin

AU - Moroni, Isabella

AU - Mora, Marina

AU - Beggs, Alan H.

AU - Gabriel, Stacey B.

AU - Walsh, Christopher A.

PY - 2012/9/7

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KW - Exome

KW - Glycosyltransferases/genetics

KW - Humans

KW - Walker-Warburg Syndrome/genetics

KW - Mutation

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ER -

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of walker-warburg syndrome

ASJC Scopus Subject Areas

Keywords

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