Publications by Lauren Charlotte Phillips Phillips - ePrints

Browsing publications by Lauren Charlotte Phillips Phillips.

Newcastle Authors	Title	Year
Dr Ana Topf Dr Katherine Johnson Adam Bates Lauren Charlotte Phillips Phillips Dr Marta Bertoli et al.	Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness	2020
Dr Kate Bailey Dr Guy MacGowan Dr Simon Tual-Chalot Lauren Charlotte Phillips Phillips Professor Deborah Henderson et al.	Disruption of embryonic ROCK signalling reproduces the sarcomeric phenotype of Hypertrophic Cardiomyopathy	2019
Dr Katherine Johnson Dr Ana Topf Dr Marta Bertoli Lauren Charlotte Phillips Phillips Dr James Miller et al.	Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population	2019
Dr Katherine Johnson Dr Marta Bertoli Lauren Charlotte Phillips Phillips Dr Ana Topf Roberto Fernandez-Torron et al.	Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness	2018
Lauren Charlotte Phillips Phillips Professor Volker Straub	Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients	2018
Dr Katherine Johnson Lauren Charlotte Phillips Phillips Dr Ana Topf Professor Volker Straub	Limb girdle muscular dystrophy due to mutations in POMT2	2018
Lauren Charlotte Phillips Phillips Dr Katherine Johnson Dr Marta Bertoli Professor Hanns Lochmuller Professor Volker Straub et al.	A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population	2017
Dr Katherine Johnson Lauren Charlotte Phillips Phillips Dr Ana Topf Professor Volker Straub	Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046]	2017