Helen Kingston

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faùndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 278 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

Emma M. Jenkinson, Atteeq U. Rehman, Tom Walsh et al. · The American Journal of Human Genetics · 2013 · 245 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Phenotypic spectrum of neurodegeneration associated with mutations in the <i>PLA2G6</i> gene (PLAN)

Manju A. Kurian, Neil V. Morgan, Lesley MacPherson et al. · Neurology · 2008 · 240 citations

Life Sciences, Genetics, Neurology +13

Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development

Michael A. Simpson, Ray C. J. Hsu, Lindsay Keir et al. · The American Journal of Human Genetics · 2007 · 228 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 220 citations

Life Sciences, Genetics, Molecular Genetics +17