Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopm...
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
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Author / Creator
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. I. , 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. and Kleefstra, Tjitske
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
Defects in histone methyltransferases (HMTs) are major contributing factors in neurodevelopmental disorders (NDDs). Heterozygous variants of
SETD1A
involved in histone H3 lysine 4 (H3K4) methylation were previously identified in individuals with schizophrenia. Here, we define the clinical features of the Mendelian syndrome associated with hap...
Alternative Titles
Full title
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
Authors, Artists and Contributors
Author / Creator
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. I.
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2396310079
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2396310079
Other Identifiers
ISSN
1359-4184
E-ISSN
1476-5578
DOI
10.1038/s41380-020-0725-5
