Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing

por Williams, Emma L, Bagg, Eleanor A L, Mueller, Michael, Vandrovcova, Jana, Aitman, Timothy J, Rumsby, Gill
Publicado 2015

Genetic assessment in primary hyperoxaluria: why it matters

por Mandrile, Giorgia, Beck, Bodo, Acquaviva, Cecile, Rumsby, Gill, Deesker, Lisa, Garrelfs, Sander, Gupta, Asheeta, Bacchetta, Justine, Groothoff, Jaap
Publicado 2022

Plasma oxalate: comparison of methodologies

por Stokes, Felicity, Acquaviva-Bourdain, Cecile, Hoppe, Bernd, Lieske, John C., Lindner, Elisabeth, Toulson, Greg, Vaz, Frédéric M., Rumsby, Gill
Publicado 2020

Adrenal cancer in neurofibromatosis type 1: case report and DNA analysis

por Menon, Ravi Kumar, Ferrau, Francesco, Kurzawinski, Tom R, Rumsby, Gill, Freeman, Alexander, Amin, Zahir, Korbonits, Márta, Chung, Teng-Teng L L
Publicado 2014

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD

por Buonocore, Federica, Clifford-Mobley, Oliver, King, Tom F J, Striglioni, Niccolò, Man, Elim, Suntharalingham, Jenifer P, del Valle, Ignacio, Lin, Lin, Lagos, Carlos F, Rumsby, Gill, Conway, Gerard S, Achermann, John C
Publicado 2019