N. Simon Thomas

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification

David J. Bunyan, Diana Eccles, Julie Sillibourne et al. · British Journal of Cancer · 2004 · 263 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort

Júlia Baptista, Catherine Mercer, Elena Prigmore et al. · The American Journal of Human Genetics · 2008 · 238 citations · Full text

Life Sciences, Bioinformatics, Pediatric Endocrinology +11

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Htoo A. Wai, Jenny Lord, Matthew Lyon et al. · Genetics in Medicine · 2020 · 187 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Dosage‐sensitive X‐linked locus influences the development of amygdala and orbitofrontal cortex, and fear recognition in humans

Catriona D. Good, Kate Lawrence, N. Simon Thomas et al. · Brain · 2003 · 179 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Prader‐Willi syndrome: intellectual abilities and behavioural features by genetic subtype

Katja M. Milner, Ellen E. Craig, Russell Thompson et al. · Journal of Child Psychology and Psychiatry · 2005 · 177 citations

Life Sciences, Genetics, Psychiatry +17