Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

P. Saisawat; S. Kohl; A.C. Hilger; D.Y. Hwang; H.Y. Gee; G.C. Dworschak; V. Tasic; T. Pennimpede; S. Natarajan; E. Sperry; D.S. Matassa; N. Stajic; R. Bogdanovic; I. de Blaauw; C.L.M. Marcelis; C.H.W. Wijers; E. Bartels; E. Schmiedeke; D. Schmidt; S. Marzheuser; S. Grasshoff-Derr; S. Holland-Cunz; M. Ludwig; M. M. Nothen; M. Draaken; E. Brosens; H.A. Heij; D. Tibboel; B.G. Herrmann; B.D. Solomon; A. Klein; I.A.L.M. van Rooij; F. Esposito; H.M. Reutter; F. Hildebrandt

doi:10.1038/ki.2013.417

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

P. Saisawat, S. Kohl, A.C. Hilger, D.Y. Hwang, H.Y. Gee, G.C. Dworschak, V. Tasic, T. Pennimpede, S. Natarajan, E. Sperry, D.S. Matassa, N. Stajic, R. Bogdanovic, I. de Blaauw, C.L.M. Marcelis, C.H.W. Wijers, E. Bartels, E. Schmiedeke, D. Schmidt, S. MarzheuserS. Grasshoff-Derr, S. Holland-Cunz, M. Ludwig, M. M. Nothen, M. Draaken, E. Brosens, H.A. Heij, D. Tibboel, B.G. Herrmann, B.D. Solomon, A. Klein, I.A.L.M. van Rooij, F. Esposito, H.M. Reutter, F. Hildebrandt

Pediatric surgery

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

Original language	Undefined/Unknown
Pages (from-to)	1310-1317
Journal	Kidney International
Volume	85
Issue number	6
DOIs	https://doi.org/10.1038/ki.2013.417
Publication status	Published - 2014

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10.1038/ki.2013.417

Cite this

Saisawat, P., Kohl, S., Hilger, A. C., Hwang, D. Y., Gee, H. Y., Dworschak, G. C., ... Hildebrandt, F. (2014). Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. Kidney International, 85(6), 1310-1317. https://doi.org/10.1038/ki.2013.417

Saisawat, P. ; Kohl, S. ; Hilger, A.C. ; Hwang, D.Y. ; Gee, H.Y. ; Dworschak, G.C. ; Tasic, V. ; Pennimpede, T. ; Natarajan, S. ; Sperry, E. ; Matassa, D.S. ; Stajic, N. ; Bogdanovic, R. ; de Blaauw, I. ; Marcelis, C.L.M. ; Wijers, C.H.W. ; Bartels, E. ; Schmiedeke, E. ; Schmidt, D. ; Marzheuser, S. ; Grasshoff-Derr, S. ; Holland-Cunz, S. ; Ludwig, M. ; Nothen, M. M. ; Draaken, M. ; Brosens, E. ; Heij, H.A. ; Tibboel, D. ; Herrmann, B.G. ; Solomon, B.D. ; Klein, A. ; van Rooij, I.A.L.M. ; Esposito, F. ; Reutter, H.M. ; Hildebrandt, F. / Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. In: Kidney International. 2014 ; Vol. 85, No. 6. pp. 1310-1317.

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title = "Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association",

author = "P. Saisawat and S. Kohl and A.C. Hilger and D.Y. Hwang and H.Y. Gee and G.C. Dworschak and V. Tasic and T. Pennimpede and S. Natarajan and E. Sperry and D.S. Matassa and N. Stajic and R. Bogdanovic and {de Blaauw}, I. and C.L.M. Marcelis and C.H.W. Wijers and E. Bartels and E. Schmiedeke and D. Schmidt and S. Marzheuser and S. Grasshoff-Derr and S. Holland-Cunz and M. Ludwig and Nothen, {M. M.} and M. Draaken and E. Brosens and H.A. Heij and D. Tibboel and B.G. Herrmann and B.D. Solomon and A. Klein and {van Rooij}, I.A.L.M. and F. Esposito and H.M. Reutter and F. Hildebrandt",

year = "2014",

doi = "10.1038/ki.2013.417",

language = "Undefined/Unknown",

volume = "85",

pages = "1310--1317",

journal = "Kidney International",

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Saisawat, P, Kohl, S, Hilger, AC, Hwang, DY, Gee, HY, Dworschak, GC, Tasic, V, Pennimpede, T, Natarajan, S, Sperry, E, Matassa, DS, Stajic, N, Bogdanovic, R, de Blaauw, I, Marcelis, CLM, Wijers, CHW, Bartels, E, Schmiedeke, E, Schmidt, D, Marzheuser, S, Grasshoff-Derr, S, Holland-Cunz, S, Ludwig, M, Nothen, MM, Draaken, M, Brosens, E, Heij, HA, Tibboel, D, Herrmann, BG, Solomon, BD, Klein, A, van Rooij, IALM, Esposito, F, Reutter, HM & Hildebrandt, F 2014, 'Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association', Kidney International, vol. 85, no. 6, pp. 1310-1317. https://doi.org/10.1038/ki.2013.417

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. / Saisawat, P.; Kohl, S.; Hilger, A.C.; Hwang, D.Y.; Gee, H.Y.; Dworschak, G.C.; Tasic, V.; Pennimpede, T.; Natarajan, S.; Sperry, E.; Matassa, D.S.; Stajic, N.; Bogdanovic, R.; de Blaauw, I.; Marcelis, C.L.M.; Wijers, C.H.W.; Bartels, E.; Schmiedeke, E.; Schmidt, D.; Marzheuser, S.; Grasshoff-Derr, S.; Holland-Cunz, S.; Ludwig, M.; Nothen, M. M.; Draaken, M.; Brosens, E.; Heij, H.A.; Tibboel, D.; Herrmann, B.G.; Solomon, B.D.; Klein, A.; van Rooij, I.A.L.M.; Esposito, F.; Reutter, H.M.; Hildebrandt, F.

In: Kidney International, Vol. 85, No. 6, 2014, p. 1310-1317.

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

TY - JOUR

T1 - Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

AU - Saisawat, P.

AU - Kohl, S.

AU - Hilger, A.C.

AU - Hwang, D.Y.

AU - Gee, H.Y.

AU - Dworschak, G.C.

AU - Tasic, V.

AU - Pennimpede, T.

AU - Natarajan, S.

AU - Sperry, E.

AU - Matassa, D.S.

AU - Stajic, N.

AU - Bogdanovic, R.

AU - de Blaauw, I.

AU - Marcelis, C.L.M.

AU - Wijers, C.H.W.

AU - Bartels, E.

AU - Schmiedeke, E.

AU - Schmidt, D.

AU - Marzheuser, S.

AU - Grasshoff-Derr, S.

AU - Holland-Cunz, S.

AU - Ludwig, M.

AU - Nothen, M. M.

AU - Draaken, M.

AU - Brosens, E.

AU - Heij, H.A.

AU - Tibboel, D.

AU - Herrmann, B.G.

AU - Solomon, B.D.

AU - Klein, A.

AU - van Rooij, I.A.L.M.

AU - Esposito, F.

AU - Reutter, H.M.

AU - Hildebrandt, F.

PY - 2014

Y1 - 2014

U2 - 10.1038/ki.2013.417

DO - 10.1038/ki.2013.417

M3 - Article

C2 - 24152966

VL - 85

SP - 1310

EP - 1317

JO - Kidney International

JF - Kidney International

SN - 0085-2538

IS - 6

ER -