The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

S.M. Nikkel; A. Dauber; S. de Munnik; M. Connolly; R.L. Hood; O. Caluseriu; J. Hurst; U. Kini; M.J.M. Nowaczyk; A. Afenjar; B. Albrecht; J.E. Allanson; P. Balestri; T. Ben-Omran; F. Brancati; I. Cordeiro; B.S. da Cunha; L.A. Delaney; A. Destree; D. FitzPatrick; F. Forzano; N. Ghali; G. Gillies; K. Harwood; Y.M.C. Hendriks; D. Heron; A. Hoischen; E.M. Honey; L.H. Hoefsloot; J. Ibrahim; C.M. Jacob; S.G. Kant; C.A. Kim; E.P. Kirk; N.V.A.M. Knoers; D Lacombe; C. Lee; I.F.M. Lo; L.S. Lucas; F. Mari; V. Mericq; J.S. Moilanen; S.T. Moller; S. Moortgat; D.T. Pilz; K. Pope; S. Price; A. Renieri; J. de Sa; J. Schoots; E.L. Silveira; M.E.H. Simon; A. Slavotinek; I.K. Temple; I. van der Burgt; B.B.A. de Vries; J.D. Weisfeld-Adams; M.L. Whiteford; D. Wierczorek; J.M. Wit; C.F.O. Yee; C.L. Beaulieu; S.M. White; D.E. Bulman; E. Bongers; H. Brunner; M. Feingold; K.M. Boycott

doi:10.1186/1750-1172-8-63

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

S.M. Nikkel, A. Dauber, S. de Munnik, M. Connolly, R.L. Hood, O. Caluseriu, J. Hurst, U. Kini, M.J.M. Nowaczyk, A. Afenjar, B. Albrecht, J.E. Allanson, P. Balestri, T. Ben-Omran, F. Brancati, I. Cordeiro, B.S. da Cunha, L.A. Delaney, A. Destree, D. FitzPatrickF. Forzano, N. Ghali, G. Gillies, K. Harwood, Y.M.C. Hendriks, D. Heron, A. Hoischen, E.M. Honey, L.H. Hoefsloot, J. Ibrahim, C.M. Jacob, S.G. Kant, C.A. Kim, E.P. Kirk, N.V.A.M. Knoers, D Lacombe, C. Lee, I.F.M. Lo, L.S. Lucas, F. Mari, V. Mericq, J.S. Moilanen, S.T. Moller, S. Moortgat, D.T. Pilz, K. Pope, S. Price, A. Renieri, J. de Sa, J. Schoots, E.L. Silveira, M.E.H. Simon, A. Slavotinek, I.K. Temple, I. van der Burgt, B.B.A. de Vries, J.D. Weisfeld-Adams, M.L. Whiteford, D. Wierczorek, J.M. Wit, C.F.O. Yee, C.L. Beaulieu, S.M. White, D.E. Bulman, E. Bongers, H. Brunner, M. Feingold, K.M. Boycott

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

Original language	Undefined/Unknown
Article number	63
Journal	Orphanet Journal of Rare Diseases
Volume	8
DOIs	https://doi.org/10.1186/1750-1172-8-63
Publication status	Published - 2013

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10.1186/1750-1172-8-63

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Nikkel, S. M., Dauber, A., de Munnik, S., Connolly, M., Hood, R. L., Caluseriu, O., Hurst, J., Kini, U., Nowaczyk, M. J. M., Afenjar, A., Albrecht, B., Allanson, J. E., Balestri, P., Ben-Omran, T., Brancati, F., Cordeiro, I., da Cunha, B. S., Delaney, L. A., Destree, A., ... Boycott, K. M. (2013). The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet Journal of Rare Diseases, 8, [63]. https://doi.org/10.1186/1750-1172-8-63

Nikkel, S.M. ; Dauber, A. ; de Munnik, S. ; Connolly, M. ; Hood, R.L. ; Caluseriu, O. ; Hurst, J. ; Kini, U. ; Nowaczyk, M.J.M. ; Afenjar, A. ; Albrecht, B. ; Allanson, J.E. ; Balestri, P. ; Ben-Omran, T. ; Brancati, F. ; Cordeiro, I. ; da Cunha, B.S. ; Delaney, L.A. ; Destree, A. ; FitzPatrick, D. ; Forzano, F. ; Ghali, N. ; Gillies, G. ; Harwood, K. ; Hendriks, Y.M.C. ; Heron, D. ; Hoischen, A. ; Honey, E.M. ; Hoefsloot, L.H. ; Ibrahim, J. ; Jacob, C.M. ; Kant, S.G. ; Kim, C.A. ; Kirk, E.P. ; Knoers, N.V.A.M. ; Lacombe, D ; Lee, C. ; Lo, I.F.M. ; Lucas, L.S. ; Mari, F. ; Mericq, V. ; Moilanen, J.S. ; Moller, S.T. ; Moortgat, S. ; Pilz, D.T. ; Pope, K. ; Price, S. ; Renieri, A. ; de Sa, J. ; Schoots, J. ; Silveira, E.L. ; Simon, M.E.H. ; Slavotinek, A. ; Temple, I.K. ; van der Burgt, I. ; de Vries, B.B.A. ; Weisfeld-Adams, J.D. ; Whiteford, M.L. ; Wierczorek, D. ; Wit, J.M. ; Yee, C.F.O. ; Beaulieu, C.L. ; White, S.M. ; Bulman, D.E. ; Bongers, E. ; Brunner, H. ; Feingold, M. ; Boycott, K.M. / The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. In: Orphanet Journal of Rare Diseases. 2013 ; Vol. 8.

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title = "The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP",

author = "S.M. Nikkel and A. Dauber and {de Munnik}, S. and M. Connolly and R.L. Hood and O. Caluseriu and J. Hurst and U. Kini and M.J.M. Nowaczyk and A. Afenjar and B. Albrecht and J.E. Allanson and P. Balestri and T. Ben-Omran and F. Brancati and I. Cordeiro and {da Cunha}, B.S. and L.A. Delaney and A. Destree and D. FitzPatrick and F. Forzano and N. Ghali and G. Gillies and K. Harwood and Y.M.C. Hendriks and D. Heron and A. Hoischen and E.M. Honey and L.H. Hoefsloot and J. Ibrahim and C.M. Jacob and S.G. Kant and C.A. Kim and E.P. Kirk and N.V.A.M. Knoers and D Lacombe and C. Lee and I.F.M. Lo and L.S. Lucas and F. Mari and V. Mericq and J.S. Moilanen and S.T. Moller and S. Moortgat and D.T. Pilz and K. Pope and S. Price and A. Renieri and {de Sa}, J. and J. Schoots and E.L. Silveira and M.E.H. Simon and A. Slavotinek and I.K. Temple and {van der Burgt}, I. and {de Vries}, B.B.A. and J.D. Weisfeld-Adams and M.L. Whiteford and D. Wierczorek and J.M. Wit and C.F.O. Yee and C.L. Beaulieu and S.M. White and D.E. Bulman and E. Bongers and H. Brunner and M. Feingold and K.M. Boycott",

year = "2013",

doi = "10.1186/1750-1172-8-63",

language = "Undefined/Unknown",

volume = "8",

journal = "Orphanet Journal of Rare Diseases",

issn = "1750-1172",

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Nikkel, SM, Dauber, A, de Munnik, S, Connolly, M, Hood, RL, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, MJM, Afenjar, A, Albrecht, B, Allanson, JE, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, BS, Delaney, LA, Destree, A, FitzPatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, YMC, Heron, D, Hoischen, A, Honey, EM, Hoefsloot, LH, Ibrahim, J, Jacob, CM, Kant, SG, Kim, CA, Kirk, EP, Knoers, NVAM, Lacombe, D, Lee, C, Lo, IFM, Lucas, LS, Mari, F, Mericq, V, Moilanen, JS, Moller, ST, Moortgat, S, Pilz, DT, Pope, K, Price, S, Renieri, A, de Sa, J, Schoots, J, Silveira, EL, Simon, MEH, Slavotinek, A, Temple, IK, van der Burgt, I, de Vries, BBA, Weisfeld-Adams, JD, Whiteford, ML, Wierczorek, D, Wit, JM, Yee, CFO, Beaulieu, CL, White, SM, Bulman, DE, Bongers, E, Brunner, H, Feingold, M & Boycott, KM 2013, 'The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP', Orphanet Journal of Rare Diseases, vol. 8, 63. https://doi.org/10.1186/1750-1172-8-63

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. / Nikkel, S.M.; Dauber, A.; de Munnik, S.; Connolly, M.; Hood, R.L.; Caluseriu, O.; Hurst, J.; Kini, U.; Nowaczyk, M.J.M.; Afenjar, A.; Albrecht, B.; Allanson, J.E.; Balestri, P.; Ben-Omran, T.; Brancati, F.; Cordeiro, I.; da Cunha, B.S.; Delaney, L.A.; Destree, A.; FitzPatrick, D.; Forzano, F.; Ghali, N.; Gillies, G.; Harwood, K.; Hendriks, Y.M.C.; Heron, D.; Hoischen, A.; Honey, E.M.; Hoefsloot, L.H.; Ibrahim, J.; Jacob, C.M.; Kant, S.G.; Kim, C.A.; Kirk, E.P.; Knoers, N.V.A.M.; Lacombe, D; Lee, C.; Lo, I.F.M.; Lucas, L.S.; Mari, F.; Mericq, V.; Moilanen, J.S.; Moller, S.T.; Moortgat, S.; Pilz, D.T.; Pope, K.; Price, S.; Renieri, A.; de Sa, J.; Schoots, J.; Silveira, E.L.; Simon, M.E.H.; Slavotinek, A.; Temple, I.K.; van der Burgt, I.; de Vries, B.B.A.; Weisfeld-Adams, J.D.; Whiteford, M.L.; Wierczorek, D.; Wit, J.M.; Yee, C.F.O.; Beaulieu, C.L.; White, S.M.; Bulman, D.E.; Bongers, E.; Brunner, H.; Feingold, M.; Boycott, K.M.

In: Orphanet Journal of Rare Diseases, Vol. 8, 63, 2013.

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

TY - JOUR

T1 - The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

AU - Nikkel, S.M.

AU - Dauber, A.

AU - de Munnik, S.

AU - Connolly, M.

AU - Hood, R.L.

AU - Caluseriu, O.

AU - Hurst, J.

AU - Kini, U.

AU - Nowaczyk, M.J.M.

AU - Afenjar, A.

AU - Albrecht, B.

AU - Allanson, J.E.

AU - Balestri, P.

AU - Ben-Omran, T.

AU - Brancati, F.

AU - Cordeiro, I.

AU - da Cunha, B.S.

AU - Delaney, L.A.

AU - Destree, A.

AU - FitzPatrick, D.

AU - Forzano, F.

AU - Ghali, N.

AU - Gillies, G.

AU - Harwood, K.

AU - Hendriks, Y.M.C.

AU - Heron, D.

AU - Hoischen, A.

AU - Honey, E.M.

AU - Hoefsloot, L.H.

AU - Ibrahim, J.

AU - Jacob, C.M.

AU - Kant, S.G.

AU - Kim, C.A.

AU - Kirk, E.P.

AU - Knoers, N.V.A.M.

AU - Lacombe, D

AU - Lee, C.

AU - Lo, I.F.M.

AU - Lucas, L.S.

AU - Mari, F.

AU - Mericq, V.

AU - Moilanen, J.S.

AU - Moller, S.T.

AU - Moortgat, S.

AU - Pilz, D.T.

AU - Pope, K.

AU - Price, S.

AU - Renieri, A.

AU - de Sa, J.

AU - Schoots, J.

AU - Silveira, E.L.

AU - Simon, M.E.H.

AU - Slavotinek, A.

AU - Temple, I.K.

AU - van der Burgt, I.

AU - de Vries, B.B.A.

AU - Weisfeld-Adams, J.D.

AU - Whiteford, M.L.

AU - Wierczorek, D.

AU - Wit, J.M.

AU - Yee, C.F.O.

AU - Beaulieu, C.L.

AU - White, S.M.

AU - Bulman, D.E.

AU - Bongers, E.

AU - Brunner, H.

AU - Feingold, M.

AU - Boycott, K.M.

PY - 2013

Y1 - 2013

U2 - 10.1186/1750-1172-8-63

DO - 10.1186/1750-1172-8-63

M3 - Article

C2 - 23621943

VL - 8

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

M1 - 63

ER -