Linda Manwaring
Washington University in St. Louis(US)Mallinckrodt (United States)(US)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Glycogen Storage Diseases and Myoclonus
Most-Cited Works
- → The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results(2017)123 cited
- → Fabry disease in infancy and early childhood: a systematic literature review(2014)115 cited
- → Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients(2020)96 cited
- → Phenotypic characteristics of early Wolfram syndrome(2013)95 cited
- → De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females(2016)68 cited
- → Multigenerational autosomal dominant inheritance of 5p chromosomal deletions(2015)67 cited
- → Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions(2011)57 cited
- → WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome(2015)55 cited
- → Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction(2021)54 cited
- → Diffusion-weighted and dynamic contrast-enhanced imaging as markers of clinical behavior in children with optic pathway glioma(2008)47 cited