Simon Thomas

Cross-validation pitfalls when selecting and assessing regression and classification models

Damjan Krstajić, Ljubomir Buturović, David E. Leahy et al. · Journal of Cheminformatics · 2014 · 1.1K citations · Full text

Computing, Cloud Computing, Computer Science +15

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by <i>EP300</i> mutations

Patricia Fergelot, Martine van Belzen, Julien Van‐Gils et al. · American Journal of Medical Genetics Part A · 2016 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation

Andrew Fisher, Simon Thomas, Annette E. Cockwell et al. · Human Genetics · 2002 · 94 citations

Life Sciences, Genetics, Molecular Genetics +16

Characterization of breakpoints in the <i>GABRG3</i> and <i>TSPY</i> genes in a family with a t(Y;15)(p11.2;q12)

Leena Gole, John A. Crolla, Simon Thomas et al. · American Journal of Medical Genetics Part A · 2003 · 75 citations

Life Sciences, Genetics, Molecular Genetics +16

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations

Johanna Raidt, Sarah Riepenhausen, Petra Pennekamp et al. · European Respiratory Journal · 2024 · 61 citations · Full text

Medicine, Genetics, Molecular Genetics +17