Suzanne Lillis
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 13 publications
Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype.
Journal: Clinical dysmorphology
Published: May 17, 2023
Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology.
Journal: The Journal of pediatrics
Published: February 10, 2021
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
Journal: BMC medical genomics
Published: December 02, 2020
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
Journal: Clinical dysmorphology
Published: July 29, 2016
A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance.
Journal: Pediatric neurology
Published: December 07, 2014
Genetic and functional diversity of propagating cells in glioblastoma.
Journal: Stem cell reports
Published: May 20, 2014
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.
Journal: Neuromuscular disorders : NMD
Published: November 16, 2012
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.
Journal: Neuromuscular disorders : NMD
Published: June 14, 2012
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.
Journal: Neurology
Published: March 24, 2012
Clinical utility gene card for: Multi-minicore disease.
Journal: European journal of human genetics : EJHG
Published: October 20, 2011
Last Updated: 09/26/2026