Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

M. Chaki; R. Airik; A.K. Ghosh; R.H. Giles; R. Chen; G.G.G. Slaats; H. Wang; T.W. Hurd; W. Zhou; A. Cluckey; H.Y. Gee; G. Ramaswami; C.J. Hong; B.A. Hamilton; I. Cervenka; R.S. Ganji; V. Bryja; H.H. Arts; J. van Reeuwijk; M.M. Oud; S.J. Letteboer; R. Roepman; H. Husson; O Ibraghimov-Beskrovnaya; T. Yasunaga; G. Walz; L. Eley; J.A. Sayer; B. Schermer; M.C. Liebau; T. Benzing; S. Le Corre; I. Drummond; S. Janssen; S.J. Allen; S. Natarajan; J.F. O'Toole; M. Attanasio; S. Saunier; C. Antignac; R.K. Koenekoop; H. Ren; I. Lopez; A. Nayir; C. Stoetzel; H. Dollfus; R. Massoudi; J.G. Gleeson; S.P. Andreoli; D.G. Doherty; A. Lindstrad; C. Golzio; N. Katsanis; L. Pape; E.B. Abboud; A.A. Al-Rajhi; R.A. Lewis; H. Omran; E.Y. Lee; S. Wang; J.M. Sekiguchi; R. Saunders; C.A. Johnson; E. Garner; K. Vanselow; J.S. Andersen; J. Sholomai; G. Nurnberg; P. Nurnberg; S. Levy; A. Smogorzewska; E.A. Otto; F. Hildebrandt

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Translated title of the contribution: Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

M. Chaki
, R. Airik
, A.K. Ghosh
, R.H. Giles
, R. Chen
, G.G.G. Slaats
, H. Wang
, T.W. Hurd
, W. Zhou
, A. Cluckey
, H.Y. Gee
, G. Ramaswami
, C.J. Hong
, B.A. Hamilton
, I. Cervenka
, R.S. Ganji
, V. Bryja
, H.H. Arts
, J. van Reeuwijk
, M.M. Oud

S.J. Letteboer, R. Roepman, H. Husson, O Ibraghimov-Beskrovnaya, T. Yasunaga, G. Walz, L. Eley, J.A. Sayer, B. Schermer, M.C. Liebau, T. Benzing, S. Le Corre, I. Drummond, S. Janssen, S.J. Allen, S. Natarajan, J.F. O'Toole, M. Attanasio, S. Saunier, C. Antignac, R.K. Koenekoop, H. Ren, I. Lopez, A. Nayir, C. Stoetzel, H. Dollfus, R. Massoudi, J.G. Gleeson, S.P. Andreoli, D.G. Doherty, A. Lindstrad, C. Golzio, N. Katsanis, L. Pape, E.B. Abboud, A.A. Al-Rajhi, R.A. Lewis, H. Omran, E.Y. Lee, S. Wang, J.M. Sekiguchi, R. Saunders, C.A. Johnson, E. Garner, K. Vanselow, J.S. Andersen, J. Sholomai, G. Nurnberg, P. Nurnberg, S. Levy, A. Smogorzewska, E.A. Otto, F. Hildebrandt

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

Translated title of the contribution	Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Original language	Undefined/Unknown
Pages (from-to)	533-48
Number of pages	16
Journal	Cell
Volume	150
Issue number	3
Publication status	Published - 2012

Access to Document

http://www.ncbi.nlm.nih.gov/pubmed/22863007

Cite this

Chaki, M., Airik, R., Ghosh, A. K., Giles, R. H., Chen, R., Slaats, G. G. G., Wang, H., Hurd, T. W., Zhou, W., Cluckey, A., Gee, H. Y., Ramaswami, G., Hong, C. J., Hamilton, B. A., Cervenka, I., Ganji, R. S., Bryja, V., Arts, H. H., van Reeuwijk, J., ... Hildebrandt, F. (2012). Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell, 150(3), 533-48. http://www.ncbi.nlm.nih.gov/pubmed/22863007

@article{f274c978c60d40cd97d5db5144d151aa,

title = "Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.",

author = "M. Chaki and R. Airik and A.K. Ghosh and R.H. Giles and R. Chen and G.G.G. Slaats and H. Wang and T.W. Hurd and W. Zhou and A. Cluckey and H.Y. Gee and G. Ramaswami and C.J. Hong and B.A. Hamilton and I. Cervenka and R.S. Ganji and V. Bryja and H.H. Arts and \{van Reeuwijk\}, J. and M.M. Oud and S.J. Letteboer and R. Roepman and H. Husson and O Ibraghimov-Beskrovnaya and T. Yasunaga and G. Walz and L. Eley and J.A. Sayer and B. Schermer and M.C. Liebau and T. Benzing and \{Le Corre\}, S. and I. Drummond and S. Janssen and S.J. Allen and S. Natarajan and J.F. O'Toole and M. Attanasio and S. Saunier and C. Antignac and R.K. Koenekoop and H. Ren and I. Lopez and A. Nayir and C. Stoetzel and H. Dollfus and R. Massoudi and J.G. Gleeson and S.P. Andreoli and D.G. Doherty and A. Lindstrad and C. Golzio and N. Katsanis and L. Pape and E.B. Abboud and A.A. Al-Rajhi and R.A. Lewis and H. Omran and E.Y. Lee and S. Wang and J.M. Sekiguchi and R. Saunders and C.A. Johnson and E. Garner and K. Vanselow and J.S. Andersen and J. Sholomai and G. Nurnberg and P. Nurnberg and S. Levy and A. Smogorzewska and E.A. Otto and F. Hildebrandt",

year = "2012",

language = "Undefined/Unknown",

volume = "150",

pages = "533--48",

journal = "Cell",

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Chaki, M, Airik, R, Ghosh, AK, Giles, RH, Chen, R, Slaats, GGG, Wang, H, Hurd, TW, Zhou, W, Cluckey, A, Gee, HY, Ramaswami, G, Hong, CJ, Hamilton, BA, Cervenka, I, Ganji, RS, Bryja, V, Arts, HH, van Reeuwijk, J, Oud, MM, Letteboer, SJ, Roepman, R, Husson, H, Ibraghimov-Beskrovnaya, O, Yasunaga, T, Walz, G, Eley, L, Sayer, JA, Schermer, B, Liebau, MC, Benzing, T, Le Corre, S, Drummond, I, Janssen, S, Allen, SJ, Natarajan, S, O'Toole, JF, Attanasio, M, Saunier, S, Antignac, C, Koenekoop, RK, Ren, H, Lopez, I, Nayir, A, Stoetzel, C, Dollfus, H, Massoudi, R, Gleeson, JG, Andreoli, SP, Doherty, DG, Lindstrad, A, Golzio, C, Katsanis, N, Pape, L, Abboud, EB, Al-Rajhi, AA, Lewis, RA, Omran, H, Lee, EY, Wang, S, Sekiguchi, JM, Saunders, R, Johnson, CA, Garner, E, Vanselow, K, Andersen, JS, Sholomai, J, Nurnberg, G, Nurnberg, P, Levy, S, Smogorzewska, A, Otto, EA & Hildebrandt, F 2012, 'Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.', Cell, vol. 150, no. 3, pp. 533-48. <http://www.ncbi.nlm.nih.gov/pubmed/22863007>

TY - JOUR

T1 - Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

AU - Chaki, M.

AU - Airik, R.

AU - Ghosh, A.K.

AU - Giles, R.H.

AU - Chen, R.

AU - Slaats, G.G.G.

AU - Wang, H.

AU - Hurd, T.W.

AU - Zhou, W.

AU - Cluckey, A.

AU - Gee, H.Y.

AU - Ramaswami, G.

AU - Hong, C.J.

AU - Hamilton, B.A.

AU - Cervenka, I.

AU - Ganji, R.S.

AU - Bryja, V.

AU - Arts, H.H.

AU - van Reeuwijk, J.

AU - Oud, M.M.

AU - Letteboer, S.J.

AU - Roepman, R.

AU - Husson, H.

AU - Ibraghimov-Beskrovnaya, O

AU - Yasunaga, T.

AU - Walz, G.

AU - Eley, L.

AU - Sayer, J.A.

AU - Schermer, B.

AU - Liebau, M.C.

AU - Benzing, T.

AU - Le Corre, S.

AU - Drummond, I.

AU - Janssen, S.

AU - Allen, S.J.

AU - Natarajan, S.

AU - O'Toole, J.F.

AU - Attanasio, M.

AU - Saunier, S.

AU - Antignac, C.

AU - Koenekoop, R.K.

AU - Ren, H.

AU - Lopez, I.

AU - Nayir, A.

AU - Stoetzel, C.

AU - Dollfus, H.

AU - Massoudi, R.

AU - Gleeson, J.G.

AU - Andreoli, S.P.

AU - Doherty, D.G.

AU - Lindstrad, A.

AU - Golzio, C.

AU - Katsanis, N.

AU - Pape, L.

AU - Abboud, E.B.

AU - Al-Rajhi, A.A.

AU - Lewis, R.A.

AU - Omran, H.

AU - Lee, E.Y.

AU - Wang, S.

AU - Sekiguchi, J.M.

AU - Saunders, R.

AU - Johnson, C.A.

AU - Garner, E.

AU - Vanselow, K.

AU - Andersen, J.S.

AU - Sholomai, J.

AU - Nurnberg, G.

AU - Nurnberg, P.

AU - Levy, S.

AU - Smogorzewska, A.

AU - Otto, E.A.

AU - Hildebrandt, F.

PY - 2012

Y1 - 2012

M3 - Article

SN - 0092-8674

VL - 150

SP - 533

EP - 548

JO - Cell

JF - Cell

IS - 3

ER -