Anna Thomas

Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS

Veronica A. Kinsler, Anna Thomas, Miho Ishida et al. · Journal of Investigative Dermatology · 2013 · 346 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett et al. · Journal of Clinical Investigation · 2018 · 286 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis

Anna Thomas, Zhiqiang Zeng, Jean‐Baptiste Rivière et al. · Journal of Investigative Dermatology · 2016 · 187 citations · Full text

Medicine, Dermatology, Genetics +16

ABCA12 Is the Major Harlequin Ichthyosis Gene

Anna Thomas, Tom Cullup, Elizabeth E. Norgett et al. · Journal of Investigative Dermatology · 2006 · 115 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Anna Thomas, Hywel Williams, Núria Setó‐Salvia et al. · The American Journal of Human Genetics · 2014 · 100 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17