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N. Simon Thomas | doi.page

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N. Simon Thomas

Salisbury District Hospital(GB)Genomics England(GB)

Publications by Year

Research Areas

Genomic variations and chromosomal abnormalities, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Prenatal Screening and Diagnostics, Genetic Syndromes and Imprinting, Chromosomal and Genetic Variations

Most-Cited Works

→ Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification(2004)263 cited
→ The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders(2001)245 cited
→ Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort(2008)237 cited
→ Aberrant recombination and the origin of Klinefelter syndrome(2003)203 cited
→ Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance(2020)181 cited
→ Dosage‐sensitive X‐linked locus influences the development of amygdala and orbitofrontal cortex, and fear recognition in humans(2003)178 cited

→ Prader‐Willi syndrome: intellectual abilities and behavioural features by genetic subtype(2005)

177 cited

→ Xp deletions associated with autism in three females(1999)171 cited

→ A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis(2005)133 cited

→ A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions(2005)124 cited