S. Alexander Holme

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

Sharon D. Whatley, Sarah Ducamp, Laurent Gouya et al. · The American Journal of Human Genetics · 2008 · 289 citations · Full text

Biology, Medicine, Genetics +11

Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria

S. Alexander Holme, Mark Worwood, A. Anstey et al. · Blood · 2007 · 99 citations · Full text

Seasonal Palmar Keratoderma in Erythropoietic Protoporphyria Indicates Autosomal Recessive Inheritance

S. Alexander Holme, Sharon D. Whatley, Andrew Roberts et al. · Journal of Investigative Dermatology · 2008 · 67 citations

Biology, Skin Development, Developmental Biology +5

Gene Dosage Analysis Identifies Large Deletions of the FECH Gene in 10% of Families with Erythropoietic Protoporphyria

Sharon D. Whatley, Nicola Mason, S. Alexander Holme et al. · Journal of Investigative Dermatology · 2007 · 36 citations · Full text

Biology, Genetic Analysis, Genome Study +12

Pulmonary Toxicity of Boron Nitride Nanomaterials Is Aspect Ratio Dependent

Luis Augusto Visani de Luna, Thomas Loret, Yilin He et al. · ACS Nano · 2023 · 25 citations · Full text