Chris Buxton

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations

Ethan S Sen, P. Dean, Laura Yarram-Smith et al. · Journal of Medical Genetics · 2017 · 82 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability

Thalia Antoniadi, Chris Buxton, Gemma Dennis et al. · BMC Medical Genetics · 2015 · 79 citations · Full text

Life Sciences, Genetics, Neurology +17

Expanding the clinical spectrum of recessive truncating mutations of <i>KLHL7</i> to a Bohring-Opitz-like phenotype

Ange‐Line Bruel, Stefania Bigoni, Joanna Kennedy et al. · Journal of Medical Genetics · 2017 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020: development of a national resource of patient-level genomics laboratory records

Lucy Loong, Catherine Huntley, Fiona E. McRonald et al. · Journal of Medical Genetics · 2022 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16