Susan Tomkins

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

Jenny Douglas, Sandra Hanks, I. Karen Temple et al. · The American Journal of Human Genetics · 2003 · 300 citations · Full text

Sotos Syndrome, Developmental Biology, Mendelian Disorder +8

Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis

Shih‐hsin Kan, Navaratnam Elanko, David Johnson et al. · The American Journal of Human Genetics · 2002 · 264 citations · Full text

Sclerostin, Developmental Biology, Mendelian Disorder +10

Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i>

Katrina Andrews, David B. Ascher, Douglas E. V. Pires et al. · Journal of Medical Genetics · 2018 · 243 citations · Full text

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Vikram Sharma, Aimée L Fenwick, Mia Brockop et al. · Nature Genetics · 2013 · 218 citations · Full text

Frequent Cause, Molecular Biology, Craniofacial Development +6

15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q

Katrina Tatton‐Brown, Daniela T. Pilz, Karen Helene Ørstavik et al. · American Journal of Medical Genetics Part A · 2009 · 128 citations

Human Growth, Cytogenetics, Genetics +18