Elizabeth Sweeney
Liverpool, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 9 publications
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.
Journal: Genetics in medicine open
Published: September 30, 2024
Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans.
Journal: Genetics in medicine open
Published: July 11, 2024
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.
Journal: Human molecular genetics
Published: December 07, 2016
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
Journal: The Journal of experimental medicine
Published: October 26, 2016
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Journal: Journal of medical genetics
Published: August 24, 2016
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Journal: Nature genetics
Published: July 08, 2014
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Journal: Nature genetics
Published: July 12, 2013
Showing 1-9 of 9
Last Updated: 09/26/2026