Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

by Jessie C. Jacobsen, Emma Glamuzina, Juliet Taylor, Brendan Swan, Shona Handisides, Callum Wilson, Michael Fietz, Tessa van Dijk, Bart Appelhof, Rosamund Hill, Rosemary Marks, Donald R. Love, Stephen P. Robertson, Russell G. Snell, Klaus Lehnert
Published 2015-01-01

Fibroblast Fatty-Acid Oxidation Flux Assays Stratify Risk in Newborns with Presumptive-Positive Results on Screening for Very-Long Chain Acyl-CoA Dehydrogenase Deficiency

by Simon E. Olpin, Shirley Clark, Jane Dalley, Brage S. Andresen, Joanne Croft, Camilla A. Scott, Aneal Khan, Richard J. Kirk, Rebecca Sparkes, Marisa Chard, Alicia Chan, Emma Glamuzina, Jean Bastin, Nigel J. Manning, Rodney J. Pollitt
Published 2017-02-01