Susan Tomkins
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Craniofacial Disorders and Treatments, Cleft Lip and Palate Research
Most-Cited Works
- → Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis(1999)528 cited
- → NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes(2003)301 cited
- → Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis(2002)265 cited
- → Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD(2018)246 cited
- → Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis(2013)219 cited
- → Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations(2010)128 cited
- → 15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q(2009)128 cited
- → Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome(2018)80 cited
- → Lymphangioleiomyomatosis and tuberous sclerosis(2002)75 cited
- → Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma(2012)73 cited