Rebecca L. Hood
Ottawa, ON K1H8L1, Canada
Last Updated: 09/26/2026
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Found 8 publications
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.
Journal: Nature communications
Published: May 14, 2018
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.
Journal: American journal of human genetics
Published: October 16, 2017
The defining DNA methylation signature of Floating-Harbor Syndrome.
Journal: Scientific reports
Published: April 12, 2016
Severe connective tissue laxity including aortic dilatation in Sotos syndrome.
Journal: American journal of medical genetics. Part A
Published: April 01, 2015
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
Journal: Orphanet journal of rare diseases
Published: February 05, 2013
Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation.
Journal: American journal of medical genetics. Part A
Published: April 25, 2012
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Journal: American journal of human genetics
Published: November 22, 2011
Mutations in EZH2 cause Weaver syndrome.
Journal: American journal of human genetics
Published: October 27, 2011
Showing 1-8 of 8
Last Updated: 09/26/2026