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Paper Details

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet
30
2021
FLHS, FLHS DNAm, FLHS DNAm signature, FLHS locus, Floating, Floating-Harbor, Floating-Harbor syndrome, NDD, SNF2-related CREBBP activator protein, SNF2-related CREBBP activator protein (SRCAP) gene, SRCAP, SRCAP variants, behavioral and psychiatric problems, blood, developmental delay, exons 33 and 34, facial dysmorphism, facial features, hypotonia, intellectual disability, neurodevelopmental disorder, proximal variants, short stature, speech delay
Author NameAffiliation
Alexander J M DingemansRadboud University Medical Centre, the Netherlands Donders Institute for Brain, Radboud University Medical Center
Susan WalkerResearch Institute, The Hospital for Sick Children
Bert B A de VriesRadboud University Medical Centre, the Netherlands Donders Institute for Brain, Radboud University Medical Center
Anne Slavotinek
Anne Slavotinek
Fanggeng Zou
Eric W KleeMayo Clinic, USA Center for Individualized Medicine
William G WilsonUniversity of Virginia School of Medicine
Stephen W SchererResearch Institute, The Hospital for Sick Children, University of Toronto
Stephen W SchererResearch Institute, The Hospital for Sick Children, University of Toronto
Han G BrunnerRadboud University Medical Centre, the Netherlands Donders Institute for Brain, Radboud University Medical Center, the Netherlands Maastricht University Medical Center
David A KoolenRadboud University Medical Centre, the Netherlands Donders Institute for Brain, Radboud University Medical Center
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