De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Sandra Jansen; Ilse M. van der Werf; A. Micheil Innes; Alexandra Afenjar; Pankaj B. Agrawal; Ilse J. Anderson; Paldeep S. Atwal; Ellen van Binsbergen; Marie-Jose van den Boogaard; Lucia Castiglia; Zeynep H. Coban-Akdemir; Anke van Dijck; Diane Doummar; Albertien M. van Eerde; Anthonie J. van Essen; Koen L. van Gassen; Maria J. Guillen Sacoto; Mieke M. van Haelst; Ivan Iossifov; Jessica L. Jackson; Elizabeth Judd; Charu Kaiwar; Boris Keren; Eric W. Klee; Jolien S. Klein Wassink-Ruiter; Marije E. Meuwissen; Kristin G. Monaghan; Sonja A. de Munnik; Caroline Nava; Charlotte W. Ockeloen; Rosa Pettinato; Hilary Racher; Tuula Rinne; Corrado Romano; Victoria R. Sanders; Rhonda E. Schnur; Eric J. Smeets; Alexander P. A. Stegmann; Asbjorg Stray-Pedersen; David A. Sweetser; Paulien A. Terhal; Kristian Tveten; Grace E. VanNoy; Petra F. de Vries; Jessica L. Waxler; Marcia Willing; Rolph Pfundt; Joris A. Veltman; R. Frank Kooy; Lisenka E. L. M. Vissers; Bert B. A. de Vries

doi:10.1038/s41431-018-0292-2

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Sandra Jansen, Ilse M. van der Werf, A. Micheil Innes, Alexandra Afenjar, Pankaj B. Agrawal, Ilse J. Anderson, Paldeep S. Atwal, Ellen van Binsbergen, Marie-Jose van den Boogaard, Lucia Castiglia, Zeynep H. Coban-Akdemir, Anke van Dijck, Diane Doummar, Albertien M. van Eerde, Anthonie J. van Essen, Koen L. van Gassen, Maria J. Guillen Sacoto, Mieke M. van Haelst, Ivan Iossifov, Jessica L. JacksonElizabeth Judd, Charu Kaiwar, Boris Keren, Eric W. Klee, Jolien S. Klein Wassink-Ruiter, Marije E. Meuwissen, Kristin G. Monaghan, Sonja A. de Munnik, Caroline Nava, Charlotte W. Ockeloen, Rosa Pettinato, Hilary Racher, Tuula Rinne, Corrado Romano, Victoria R. Sanders, Rhonda E. Schnur, Eric J. Smeets, Alexander P. A. Stegmann, Asbjorg Stray-Pedersen, David A. Sweetser, Paulien A. Terhal, Kristian Tveten, Grace E. VanNoy, Petra F. de Vries, Jessica L. Waxler, Marcia Willing, Rolph Pfundt, Joris A. Veltman, R. Frank Kooy, Lisenka E. L. M. Vissers, Bert B. A. de Vries^*

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	738-746
Number of pages	9
Journal	European Journal of Human Genetics
Volume	27
Issue number	5
DOIs	https://doi.org/10.1038/s41431-018-0292-2
Publication status	Published - May 2019

Keywords

UBIQUITIN LIGASES
MUTATIONS
GENE
SPECTRUM
E3
PHENOTYPE
IDENTIFICATION
GENEMATCHER
CANCER
FAMILY

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10.1038/s41431-018-0292-2

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Jansen, S., van der Werf, I. M., Innes, A. M., Afenjar, A., Agrawal, P. B., Anderson, I. J., Atwal, P. S., van Binsbergen, E., van den Boogaard, M-J., Castiglia, L., Coban-Akdemir, Z. H., van Dijck, A., Doummar, D., van Eerde, A. M., van Essen, A. J., van Gassen, K. L., Sacoto, M. J. G., van Haelst, M. M., Iossifov, I., ... de Vries, B. B. A. (2019). De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. European Journal of Human Genetics, 27(5), 738-746. https://doi.org/10.1038/s41431-018-0292-2

Jansen, Sandra ; van der Werf, Ilse M. ; Innes, A. Micheil ; Afenjar, Alexandra ; Agrawal, Pankaj B. ; Anderson, Ilse J. ; Atwal, Paldeep S. ; van Binsbergen, Ellen ; van den Boogaard, Marie-Jose ; Castiglia, Lucia ; Coban-Akdemir, Zeynep H. ; van Dijck, Anke ; Doummar, Diane ; van Eerde, Albertien M. ; van Essen, Anthonie J. ; van Gassen, Koen L. ; Sacoto, Maria J. Guillen ; van Haelst, Mieke M. ; Iossifov, Ivan ; Jackson, Jessica L. ; Judd, Elizabeth ; Kaiwar, Charu ; Keren, Boris ; Klee, Eric W. ; Wassink-Ruiter, Jolien S. Klein ; Meuwissen, Marije E. ; Monaghan, Kristin G. ; de Munnik, Sonja A. ; Nava, Caroline ; Ockeloen, Charlotte W. ; Pettinato, Rosa ; Racher, Hilary ; Rinne, Tuula ; Romano, Corrado ; Sanders, Victoria R. ; Schnur, Rhonda E. ; Smeets, Eric J. ; Stegmann, Alexander P. A. ; Stray-Pedersen, Asbjorg ; Sweetser, David A. ; Terhal, Paulien A. ; Tveten, Kristian ; VanNoy, Grace E. ; de Vries, Petra F. ; Waxler, Jessica L. ; Willing, Marcia ; Pfundt, Rolph ; Veltman, Joris A. ; Kooy, R. Frank ; Vissers, Lisenka E. L. M. ; de Vries, Bert B. A. / De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. In: European Journal of Human Genetics. 2019 ; Vol. 27, No. 5. pp. 738-746.

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title = "De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms",

keywords = "UBIQUITIN LIGASES, MUTATIONS, GENE, SPECTRUM, E3, PHENOTYPE, IDENTIFICATION, GENEMATCHER, CANCER, FAMILY",

author = "Sandra Jansen and {van der Werf}, {Ilse M.} and Innes, {A. Micheil} and Alexandra Afenjar and Agrawal, {Pankaj B.} and Anderson, {Ilse J.} and Atwal, {Paldeep S.} and {van Binsbergen}, Ellen and {van den Boogaard}, Marie-Jose and Lucia Castiglia and Coban-Akdemir, {Zeynep H.} and {van Dijck}, Anke and Diane Doummar and {van Eerde}, {Albertien M.} and {van Essen}, {Anthonie J.} and {van Gassen}, {Koen L.} and Sacoto, {Maria J. Guillen} and {van Haelst}, {Mieke M.} and Ivan Iossifov and Jackson, {Jessica L.} and Elizabeth Judd and Charu Kaiwar and Boris Keren and Klee, {Eric W.} and Wassink-Ruiter, {Jolien S. Klein} and Meuwissen, {Marije E.} and Monaghan, {Kristin G.} and {de Munnik}, {Sonja A.} and Caroline Nava and Ockeloen, {Charlotte W.} and Rosa Pettinato and Hilary Racher and Tuula Rinne and Corrado Romano and Sanders, {Victoria R.} and Schnur, {Rhonda E.} and Smeets, {Eric J.} and Stegmann, {Alexander P. A.} and Asbjorg Stray-Pedersen and Sweetser, {David A.} and Terhal, {Paulien A.} and Kristian Tveten and VanNoy, {Grace E.} and {de Vries}, {Petra F.} and Waxler, {Jessica L.} and Marcia Willing and Rolph Pfundt and Veltman, {Joris A.} and Kooy, {R. Frank} and Vissers, {Lisenka E. L. M.} and {de Vries}, {Bert B. A.}",

year = "2019",

month = may,

doi = "10.1038/s41431-018-0292-2",

language = "English",

volume = "27",

pages = "738--746",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "5",

}

Jansen, S, van der Werf, IM, Innes, AM, Afenjar, A, Agrawal, PB, Anderson, IJ, Atwal, PS, van Binsbergen, E, van den Boogaard, M-J, Castiglia, L, Coban-Akdemir, ZH, van Dijck, A, Doummar, D, van Eerde, AM, van Essen, AJ, van Gassen, KL, Sacoto, MJG, van Haelst, MM, Iossifov, I, Jackson, JL, Judd, E, Kaiwar, C, Keren, B, Klee, EW, Wassink-Ruiter, JSK, Meuwissen, ME, Monaghan, KG, de Munnik, SA, Nava, C, Ockeloen, CW, Pettinato, R, Racher, H, Rinne, T, Romano, C, Sanders, VR, Schnur, RE, Smeets, EJ, Stegmann, APA, Stray-Pedersen, A, Sweetser, DA, Terhal, PA, Tveten, K, VanNoy, GE, de Vries, PF, Waxler, JL, Willing, M, Pfundt, R, Veltman, JA, Kooy, RF, Vissers, LELM & de Vries, BBA 2019, 'De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms', European Journal of Human Genetics, vol. 27, no. 5, pp. 738-746. https://doi.org/10.1038/s41431-018-0292-2

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. / Jansen, Sandra; van der Werf, Ilse M.; Innes, A. Micheil; Afenjar, Alexandra; Agrawal, Pankaj B.; Anderson, Ilse J.; Atwal, Paldeep S.; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Castiglia, Lucia; Coban-Akdemir, Zeynep H.; van Dijck, Anke; Doummar, Diane; van Eerde, Albertien M.; van Essen, Anthonie J.; van Gassen, Koen L.; Sacoto, Maria J. Guillen; van Haelst, Mieke M.; Iossifov, Ivan; Jackson, Jessica L.; Judd, Elizabeth; Kaiwar, Charu; Keren, Boris; Klee, Eric W.; Wassink-Ruiter, Jolien S. Klein; Meuwissen, Marije E.; Monaghan, Kristin G.; de Munnik, Sonja A.; Nava, Caroline; Ockeloen, Charlotte W.; Pettinato, Rosa; Racher, Hilary; Rinne, Tuula; Romano, Corrado; Sanders, Victoria R.; Schnur, Rhonda E.; Smeets, Eric J.; Stegmann, Alexander P. A.; Stray-Pedersen, Asbjorg; Sweetser, David A.; Terhal, Paulien A.; Tveten, Kristian; VanNoy, Grace E.; de Vries, Petra F.; Waxler, Jessica L.; Willing, Marcia; Pfundt, Rolph; Veltman, Joris A.; Kooy, R. Frank; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.

In: European Journal of Human Genetics, Vol. 27, No. 5, 05.2019, p. 738-746.

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

TY - JOUR

T1 - De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

AU - Jansen, Sandra

AU - van der Werf, Ilse M.

AU - Innes, A. Micheil

AU - Afenjar, Alexandra

AU - Agrawal, Pankaj B.

AU - Anderson, Ilse J.

AU - Atwal, Paldeep S.

AU - van Binsbergen, Ellen

AU - van den Boogaard, Marie-Jose

AU - Castiglia, Lucia

AU - Coban-Akdemir, Zeynep H.

AU - van Dijck, Anke

AU - Doummar, Diane

AU - van Eerde, Albertien M.

AU - van Essen, Anthonie J.

AU - van Gassen, Koen L.

AU - Sacoto, Maria J. Guillen

AU - van Haelst, Mieke M.

AU - Iossifov, Ivan

AU - Jackson, Jessica L.

AU - Judd, Elizabeth

AU - Kaiwar, Charu

AU - Keren, Boris

AU - Klee, Eric W.

AU - Wassink-Ruiter, Jolien S. Klein

AU - Meuwissen, Marije E.

AU - Monaghan, Kristin G.

AU - de Munnik, Sonja A.

AU - Nava, Caroline

AU - Ockeloen, Charlotte W.

AU - Pettinato, Rosa

AU - Racher, Hilary

AU - Rinne, Tuula

AU - Romano, Corrado

AU - Sanders, Victoria R.

AU - Schnur, Rhonda E.

AU - Smeets, Eric J.

AU - Stegmann, Alexander P. A.

AU - Stray-Pedersen, Asbjorg

AU - Sweetser, David A.

AU - Terhal, Paulien A.

AU - Tveten, Kristian

AU - VanNoy, Grace E.

AU - de Vries, Petra F.

AU - Waxler, Jessica L.

AU - Willing, Marcia

AU - Pfundt, Rolph

AU - Veltman, Joris A.

AU - Kooy, R. Frank

AU - Vissers, Lisenka E. L. M.

AU - de Vries, Bert B. A.

PY - 2019/5

Y1 - 2019/5

KW - UBIQUITIN LIGASES

KW - MUTATIONS

KW - GENE

KW - SPECTRUM

KW - E3

KW - PHENOTYPE

KW - IDENTIFICATION

KW - GENEMATCHER

KW - CANCER

KW - FAMILY

U2 - 10.1038/s41431-018-0292-2

DO - 10.1038/s41431-018-0292-2

M3 - Article

C2 - 30679813

VL - 27

SP - 738

EP - 746

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 5

ER -