Novel Comprehensive Diagnostic Strategy in Pitt-Hopkins Syndrome: Clinical Score and Further Delineation of the TCF4 Mutational Spectrum

S. Whalen; D. Heron; T. Gaillon; O. Moldovan; M. Rossi; F.O. Devillard; F. Giuliano; G. Soares; M. Mathieu-Dramard; A. Afenjar; P. Charles; C. Mignot; L. Burglen; L. van Maldergem; J. Piard; S. Aftimos; G. Mancini; P. Dias; N. Philip; A. Goldenberg; M. Le Merrer; M. Rio; D. Josifova; J.M. van Hagen; D Lacombe; P. Edery; S. Dupuis-Girod; A. Putoux; D. Sanlaville; R. Fischer; L. Drevillon; A. Briand-Suleau; C. Metay; M. Goossens; J. Amiel; A. Jacquette; I. Giurgea

doi:https://doi.org/10.1002/humu.21639

Novel Comprehensive Diagnostic Strategy in Pitt-Hopkins Syndrome: Clinical Score and Further Delineation of the TCF4 Mutational Spectrum

S. Whalen, D. Heron, T. Gaillon, O. Moldovan, M. Rossi, F.O. Devillard, F. Giuliano, G. Soares, M. Mathieu-Dramard, A. Afenjar, P. Charles, C. Mignot, L. Burglen, L. van Maldergem, J. Piard, S. Aftimos, G. Mancini, P. Dias, N. Philip, A. GoldenbergM. Le Merrer, M. Rio, D. Josifova, J.M. van Hagen, D Lacombe, P. Edery, S. Dupuis-Girod, A. Putoux, D. Sanlaville, R. Fischer, L. Drevillon, A. Briand-Suleau, C. Metay, M. Goossens, J. Amiel, A. Jacquette, I. Giurgea

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

88 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	64-72
Journal	Human mutation
Volume	33
Issue number	1
DOIs	https://doi.org/10.1002/humu.21639
Publication status	Published - 2012

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https://doi.org/10.1002/humu.21639

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Whalen, S., Heron, D., Gaillon, T., Moldovan, O., Rossi, M., Devillard, F. O., Giuliano, F., Soares, G., Mathieu-Dramard, M., Afenjar, A., Charles, P., Mignot, C., Burglen, L., van Maldergem, L., Piard, J., Aftimos, S., Mancini, G., Dias, P., Philip, N., ... Giurgea, I. (2012). Novel Comprehensive Diagnostic Strategy in Pitt-Hopkins Syndrome: Clinical Score and Further Delineation of the TCF4 Mutational Spectrum. Human mutation, 33(1), 64-72. https://doi.org/10.1002/humu.21639

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title = "Novel Comprehensive Diagnostic Strategy in Pitt-Hopkins Syndrome: Clinical Score and Further Delineation of the TCF4 Mutational Spectrum",

author = "S. Whalen and D. Heron and T. Gaillon and O. Moldovan and M. Rossi and F.O. Devillard and F. Giuliano and G. Soares and M. Mathieu-Dramard and A. Afenjar and P. Charles and C. Mignot and L. Burglen and {van Maldergem}, L. and J. Piard and S. Aftimos and G. Mancini and P. Dias and N. Philip and A. Goldenberg and {Le Merrer}, M. and M. Rio and D. Josifova and {van Hagen}, J.M. and D Lacombe and P. Edery and S. Dupuis-Girod and A. Putoux and D. Sanlaville and R. Fischer and L. Drevillon and A. Briand-Suleau and C. Metay and M. Goossens and J. Amiel and A. Jacquette and I. Giurgea",

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doi = "https://doi.org/10.1002/humu.21639",

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pages = "64--72",

journal = "Human Mutation",

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Whalen, S, Heron, D, Gaillon, T, Moldovan, O, Rossi, M, Devillard, FO, Giuliano, F, Soares, G, Mathieu-Dramard, M, Afenjar, A, Charles, P, Mignot, C, Burglen, L, van Maldergem, L, Piard, J, Aftimos, S, Mancini, G, Dias, P, Philip, N, Goldenberg, A, Le Merrer, M, Rio, M, Josifova, D, van Hagen, JM, Lacombe, D, Edery, P, Dupuis-Girod, S, Putoux, A, Sanlaville, D, Fischer, R, Drevillon, L, Briand-Suleau, A, Metay, C, Goossens, M, Amiel, J, Jacquette, A & Giurgea, I 2012, 'Novel Comprehensive Diagnostic Strategy in Pitt-Hopkins Syndrome: Clinical Score and Further Delineation of the TCF4 Mutational Spectrum', Human mutation, vol. 33, no. 1, pp. 64-72. https://doi.org/10.1002/humu.21639

TY - JOUR

T1 - Novel Comprehensive Diagnostic Strategy in Pitt-Hopkins Syndrome: Clinical Score and Further Delineation of the TCF4 Mutational Spectrum

AU - Whalen, S.

AU - Heron, D.

AU - Gaillon, T.

AU - Moldovan, O.

AU - Rossi, M.

AU - Devillard, F.O.

AU - Giuliano, F.

AU - Soares, G.

AU - Mathieu-Dramard, M.

AU - Afenjar, A.

AU - Charles, P.

AU - Mignot, C.

AU - Burglen, L.

AU - van Maldergem, L.

AU - Piard, J.

AU - Aftimos, S.

AU - Mancini, G.

AU - Dias, P.

AU - Philip, N.

AU - Goldenberg, A.

AU - Le Merrer, M.

AU - Rio, M.

AU - Josifova, D.

AU - van Hagen, J.M.

AU - Lacombe, D

AU - Edery, P.

AU - Dupuis-Girod, S.

AU - Putoux, A.

AU - Sanlaville, D.

AU - Fischer, R.

AU - Drevillon, L.

AU - Briand-Suleau, A.

AU - Metay, C.

AU - Goossens, M.

AU - Amiel, J.

AU - Jacquette, A.

AU - Giurgea, I.

PY - 2012

Y1 - 2012

U2 - https://doi.org/10.1002/humu.21639

DO - https://doi.org/10.1002/humu.21639

M3 - Article

C2 - 22045651

VL - 33

SP - 64

EP - 72

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 1

ER -