Concepedia

Simon Thomas

ST

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Publications

11

Citations

1.5K

H-Index

11

Active since

2002

Affiliations

Salisbury District Hospital(Current)

Wessex Regional Genetics Laboratory

University of Southampton

Institute of Human Genetics

University of Manchester

Simon Thomas is an author at Salisbury District Hospital specializing in genetics, medicine, and molecular genetics.

ORCID

Top concepts

Publications per year

2002–2024

11

Publications

11

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

Damjan Krstajić, Ljubomir Buturović, David E. Leahy et al. · Journal of Cheminformatics · 2014 · 1K citations · Full text

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

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

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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

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 · 49 citations · Full text

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