Isabelle Russell‐Eggitt

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

Gayle B. Collin, Jan D. Marshall, Akihiro Ikeda et al. · Nature Genetics · 2002 · 409 citations · Full text

Life Sciences, Genetics, Neurology +12

New Alström Syndrome Phenotypes Based on the Evaluation of 182 Cases

Jan D. Marshall, Roderick T. Bronson, Gayle B. Collin et al. · Archives of Internal Medicine · 2005 · 321 citations

Medicine, Cardiology, Pediatrics +14

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

Tom Hearn, Glenn L. Renforth, C. Mirella Spalluto et al. · Nature Genetics · 2002 · 315 citations

Life Sciences, Genetics, Molecular Genetics +11

Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

Nicola Ragge, Alison G. M. Brown, Charlotte M. Poloschek et al. · The American Journal of Human Genetics · 2005 · 310 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Risk, causes, and outcomes of visual impairment after loss of vision in the non-amblyopic eye: a population-based study

Jugnoo S. Rahi, Stuart Logan, Christine Timms et al. · The Lancet · 2002 · 293 citations

Medicine, Ophthalmology, Vision Science +16