Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Joost Kummeling; Diante E. Stremmelaar; Nicholas Raun; Margot R. F. Reijnders; Marjolein H. Willemsen; Martina Ruiterkamp-Versteeg; Marga Schepens; Calvin C. O. Man; Christian Gilissen; Megan T. Cho; Kirsty McWalter; Margje Sinnema; James W. Wheless; Marleen E. H. Simon; Casie A. Genetti; Alicia M. Casey; Paulien A. Terhal; Jasper J. van Der Smagt; Koen L. van Gassen; Pascal Joset; Angela Bahr; Katharina Steindl; Anita Rauch; Elmar Keller; Annick Raas-Rothschild; David A. Koolen; Pankaj B. Agrawal; Trevor L. Hoffman; Nina N. Powell-Hamilton; Isabelle Thiffault; Kendra Engleman; Dihong Zhou; Olaf Bodamer; Julia Hoefele; Korbinian M. Riedhammer; Eva M. C. Schwaibold; Velibor Tasic; Dirk Schubert; Deniz Top; Rolph Pfundt; Martin R. Higgs; Jamie M. Kramer; Tjitske Kleefstra

doi:10.1038/s41380-020-0725-5

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, Margot R. F. Reijnders, Marjolein H. Willemsen, Martina Ruiterkamp-Versteeg, Marga Schepens, Calvin C. O. Man, Christian Gilissen, Megan T. Cho, Kirsty McWalter, Margje Sinnema, James W. Wheless, Marleen E. H. Simon, Casie A. Genetti, Alicia M. Casey, Paulien A. Terhal, Jasper J. van Der Smagt, Koen L. van Gassen, Pascal JosetAngela Bahr, Katharina Steindl, Anita Rauch, Elmar Keller, Annick Raas-Rothschild, David A. Koolen, Pankaj B. Agrawal, Trevor L. Hoffman, Nina N. Powell-Hamilton, Isabelle Thiffault, Kendra Engleman, Dihong Zhou, Olaf Bodamer, Julia Hoefele, Korbinian M. Riedhammer, Eva M. C. Schwaibold, Velibor Tasic, Dirk Schubert, Deniz Top, Rolph Pfundt, Martin R. Higgs, Jamie M. Kramer, Tjitske Kleefstra^*

^*Corresponding author for this work

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

11 Citations (Web of Science)

Original language	English
Pages (from-to)	2013-2024
Number of pages	12
Journal	Molecular Psychiatry
Volume	26
Issue number	6
Early online date	28 Apr 2020
DOIs	https://doi.org/10.1038/s41380-020-0725-5
Publication status	Published - Jun 2021

Keywords

SELFISH SPERMATOGONIAL SELECTION
HISTONE H3K4 METHYLASES
OF-FUNCTION VARIANTS
DE-NOVO MUTATIONS
COMPASS FAMILY
INTELLECTUAL DISABILITY
GENETIC-VARIATION
PATERNAL AGE
SCHIZOPHRENIA
PROTEIN

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10.1038/s41380-020-0725-5

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Kummeling, J., Stremmelaar, D. E., Raun, N., Reijnders, M. R. F., Willemsen, M. H., Ruiterkamp-Versteeg, M., Schepens, M., Man, C. C. O., Gilissen, C., Cho, M. T., McWalter, K., Sinnema, M., Wheless, J. W., Simon, M. E. H., Genetti, C. A., Casey, A. M., Terhal, P. A., van Der Smagt, J. J., van Gassen, K. L., ... Kleefstra, T. (2021). Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. Molecular Psychiatry, 26(6), 2013-2024. https://doi.org/10.1038/s41380-020-0725-5

Kummeling, Joost ; Stremmelaar, Diante E. ; Raun, Nicholas ; Reijnders, Margot R. F. ; Willemsen, Marjolein H. ; Ruiterkamp-Versteeg, Martina ; Schepens, Marga ; Man, Calvin C. O. ; Gilissen, Christian ; Cho, Megan T. ; McWalter, Kirsty ; Sinnema, Margje ; Wheless, James W. ; Simon, Marleen E. H. ; Genetti, Casie A. ; Casey, Alicia M. ; Terhal, Paulien A. ; van Der Smagt, Jasper J. ; van Gassen, Koen L. ; Joset, Pascal ; Bahr, Angela ; Steindl, Katharina ; Rauch, Anita ; Keller, Elmar ; Raas-Rothschild, Annick ; Koolen, David A. ; Agrawal, Pankaj B. ; Hoffman, Trevor L. ; Powell-Hamilton, Nina N. ; Thiffault, Isabelle ; Engleman, Kendra ; Zhou, Dihong ; Bodamer, Olaf ; Hoefele, Julia ; Riedhammer, Korbinian M. ; Schwaibold, Eva M. C. ; Tasic, Velibor ; Schubert, Dirk ; Top, Deniz ; Pfundt, Rolph ; Higgs, Martin R. ; Kramer, Jamie M. ; Kleefstra, Tjitske. / Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. In: Molecular Psychiatry. 2021 ; Vol. 26, No. 6. pp. 2013-2024.

@article{b1ab7e1d8f2e4e58b7eeeff991bf937c,

title = "Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome",

keywords = "SELFISH SPERMATOGONIAL SELECTION, HISTONE H3K4 METHYLASES, OF-FUNCTION VARIANTS, DE-NOVO MUTATIONS, COMPASS FAMILY, INTELLECTUAL DISABILITY, GENETIC-VARIATION, PATERNAL AGE, SCHIZOPHRENIA, PROTEIN",

author = "Joost Kummeling and Stremmelaar, {Diante E.} and Nicholas Raun and Reijnders, {Margot R. F.} and Willemsen, {Marjolein H.} and Martina Ruiterkamp-Versteeg and Marga Schepens and Man, {Calvin C. O.} and Christian Gilissen and Cho, {Megan T.} and Kirsty McWalter and Margje Sinnema and Wheless, {James W.} and Simon, {Marleen E. H.} and Genetti, {Casie A.} and Casey, {Alicia M.} and Terhal, {Paulien A.} and {van Der Smagt}, {Jasper J.} and {van Gassen}, {Koen L.} and Pascal Joset and Angela Bahr and Katharina Steindl and Anita Rauch and Elmar Keller and Annick Raas-Rothschild and Koolen, {David A.} and Agrawal, {Pankaj B.} and Hoffman, {Trevor L.} and Powell-Hamilton, {Nina N.} and Isabelle Thiffault and Kendra Engleman and Dihong Zhou and Olaf Bodamer and Julia Hoefele and Riedhammer, {Korbinian M.} and Schwaibold, {Eva M. C.} and Velibor Tasic and Dirk Schubert and Deniz Top and Rolph Pfundt and Higgs, {Martin R.} and Kramer, {Jamie M.} and Tjitske Kleefstra",

year = "2021",

month = jun,

doi = "10.1038/s41380-020-0725-5",

language = "English",

volume = "26",

pages = "2013--2024",

journal = "Molecular Psychiatry",

issn = "1359-4184",

publisher = "Nature Publishing Group",

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Kummeling, J, Stremmelaar, DE, Raun, N, Reijnders, MRF, Willemsen, MH, Ruiterkamp-Versteeg, M, Schepens, M, Man, CCO, Gilissen, C, Cho, MT, McWalter, K, Sinnema, M, Wheless, JW, Simon, MEH, Genetti, CA, Casey, AM, Terhal, PA, van Der Smagt, JJ, van Gassen, KL, Joset, P, Bahr, A, Steindl, K, Rauch, A, Keller, E, Raas-Rothschild, A, Koolen, DA, Agrawal, PB, Hoffman, TL, Powell-Hamilton, NN, Thiffault, I, Engleman, K, Zhou, D, Bodamer, O, Hoefele, J, Riedhammer, KM, Schwaibold, EMC, Tasic, V, Schubert, D, Top, D, Pfundt, R, Higgs, MR, Kramer, JM & Kleefstra, T 2021, 'Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome', Molecular Psychiatry, vol. 26, no. 6, pp. 2013-2024. https://doi.org/10.1038/s41380-020-0725-5

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. / Kummeling, Joost; Stremmelaar, Diante E.; Raun, Nicholas; Reijnders, Margot R. F.; Willemsen, Marjolein H.; Ruiterkamp-Versteeg, Martina; Schepens, Marga; Man, Calvin C. O.; Gilissen, Christian; Cho, Megan T.; McWalter, Kirsty; Sinnema, Margje; Wheless, James W.; Simon, Marleen E. H.; Genetti, Casie A.; Casey, Alicia M.; Terhal, Paulien A.; van Der Smagt, Jasper J.; van Gassen, Koen L.; Joset, Pascal; Bahr, Angela; Steindl, Katharina; Rauch, Anita; Keller, Elmar; Raas-Rothschild, Annick; Koolen, David A.; Agrawal, Pankaj B.; Hoffman, Trevor L.; Powell-Hamilton, Nina N.; Thiffault, Isabelle; Engleman, Kendra; Zhou, Dihong; Bodamer, Olaf; Hoefele, Julia; Riedhammer, Korbinian M.; Schwaibold, Eva M. C.; Tasic, Velibor; Schubert, Dirk; Top, Deniz; Pfundt, Rolph; Higgs, Martin R.; Kramer, Jamie M.; Kleefstra, Tjitske.

In: Molecular Psychiatry, Vol. 26, No. 6, 06.2021, p. 2013-2024.

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

TY - JOUR

T1 - Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

AU - Kummeling, Joost

AU - Stremmelaar, Diante E.

AU - Raun, Nicholas

AU - Reijnders, Margot R. F.

AU - Willemsen, Marjolein H.

AU - Ruiterkamp-Versteeg, Martina

AU - Schepens, Marga

AU - Man, Calvin C. O.

AU - Gilissen, Christian

AU - Cho, Megan T.

AU - McWalter, Kirsty

AU - Sinnema, Margje

AU - Wheless, James W.

AU - Simon, Marleen E. H.

AU - Genetti, Casie A.

AU - Casey, Alicia M.

AU - Terhal, Paulien A.

AU - van Der Smagt, Jasper J.

AU - van Gassen, Koen L.

AU - Joset, Pascal

AU - Bahr, Angela

AU - Steindl, Katharina

AU - Rauch, Anita

AU - Keller, Elmar

AU - Raas-Rothschild, Annick

AU - Koolen, David A.

AU - Agrawal, Pankaj B.

AU - Hoffman, Trevor L.

AU - Powell-Hamilton, Nina N.

AU - Thiffault, Isabelle

AU - Engleman, Kendra

AU - Zhou, Dihong

AU - Bodamer, Olaf

AU - Hoefele, Julia

AU - Riedhammer, Korbinian M.

AU - Schwaibold, Eva M. C.

AU - Tasic, Velibor

AU - Schubert, Dirk

AU - Top, Deniz

AU - Pfundt, Rolph

AU - Higgs, Martin R.

AU - Kramer, Jamie M.

AU - Kleefstra, Tjitske

PY - 2021/6

Y1 - 2021/6

KW - SELFISH SPERMATOGONIAL SELECTION

KW - HISTONE H3K4 METHYLASES

KW - OF-FUNCTION VARIANTS

KW - DE-NOVO MUTATIONS

KW - COMPASS FAMILY

KW - INTELLECTUAL DISABILITY

KW - GENETIC-VARIATION

KW - PATERNAL AGE

KW - SCHIZOPHRENIA

KW - PROTEIN

U2 - 10.1038/s41380-020-0725-5

DO - 10.1038/s41380-020-0725-5

M3 - Article

C2 - 32346159

VL - 26

SP - 2013

EP - 2024

JO - Molecular Psychiatry

JF - Molecular Psychiatry

SN - 1359-4184

IS - 6

ER -