Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Weerts, M. J. A., Lanko, K., Guzmán-Vega, F. J., Jackson, A., Ramakrishnan, R., Cardona-Londoño, K. J., Peña-Guerra, K. A., van Bever, Y., van Paassen, B. W., Kievit, A., van Slegtenhorst, M., Allen, N. M., Kehoe, C. M., Robinson, H. K., Pang, L., Banu, S. H., Zaman, M., Efthymiou, S., Houlden, H., … Barakat, T. S. (2021). Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genetics in Medicine, 23(11), 2122–2137. https://doi.org/10.1038/s41436-021-01246-2
Authors:
Marjolein J. A. Weerts
Kristina Lanko
Francisco J. Guzmán-Vega
Adam Jackson
Reshmi Ramakrishnan
Kelly J. Cardona-Londoño
Karla A. Peña-Guerra
Yolande van Bever
Barbara W. van Paassen
Anneke Kievit
Marjon van Slegtenhorst
Nicholas M. Allen
Caroline M. Kehoe
Hannah K. Robinson
Lewis Pang
Selina H. Banu
Mashaya Zaman
Stephanie Efthymiou
Henry Houlden
Irma Järvelä
Leena Lauronen
Tuomo Määttä
Isabelle Schrauwen
Suzanne M. Leal
Claudia A. L. Ruivenkamp
Daniela Q.C.M. Barge-Schaapveld
Cacha M. P. C. D. Peeters-Scholte
Hamid Galehdari
Neda Mazaheri
Sanjay M. Sisodiya
Victoria Harrison
Angela Sun
Jenny Thies
Luis Alberto Pedroza
Yana Lara-Taranchenko
Ivan K. Chinn
James R. Lupski
Alexandra Garza-Flores
Jeffery McGlothlin
Lin Yang
Shaoping Huang
Xiaodong Wang
Tamison Jewett
Gretchen Rosso
Xi Lin
Shehla Mohammed
J. Lawrence Merritt
Ghayda M. Mirzaa
Andrew E. Timms
Joshua Scheck
Mariet W. Elting
Abeltje M. Polstra
Lauren Schenck
Maura R. Z. Ruzhnikov
Annalisa Vetro
Martino Montomoli
Renzo Guerrini
Daniel C. Koboldt
Theresa Mihalic Mosher
Matthew T. Pastore
Kim L. McBride
Jing Peng
Zou Pan
Marjolein Willemsen
Susanne Koning
Peter D. Turnpenny
Bert B. A. de Vries
Christian Gilissen
Rolph Pfundt
Melissa Lees
Stephen R. Braddock
Kara C. Klemp
Fleur Vansenne
Marielle E. van Gijn
Catherine Quindipan
Matthew A. Deardorff
J. Austin Hamm
Abbey M. Putnam
Rebecca Baud
Laurence Walsh
Sally A. Lynch
Julia Baptista
Richard E. Person
Kristin G. Monaghan
Amy Crunk
Jennifer Keller-Ramey
Adi Reich
Houda Zghal Elloumi
Marielle Alders
Jennifer Kerkhof
Haley McConkey
Sadegheh Haghshenas
Reza Maroofian
Bekim Sadikovic
Siddharth Banka
Stefan T. Arold
Tahsin Stefan Barakat
Affiliated Authors:
Isabelle Schrauwen
Suzanne M. Leal
Luis Alberto Pedroza
Columbia Affiliation:
Subjects:
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Genomic Rearrangements and Copy Number Variations (OpenAlex Topic)
Epilepsy (MeSH)
Histone-Lysine N-Methyltransferase (MeSH)
Intellectual Disability (MeSH)
Neurodevelopmental Disorders (MeSH)
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Publication Type:
Article
Unique ID:
10.1038/s41436-021-01246-2
PMID:
34345025
DOI:
10.1038/s41436-021-01246-2
Journal:
Genetics in Medicine
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View PubMed Record
View Web of Science Record
View OpenAlex Record

Record Created: