Karen Fieggen

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Irene A. Aligianis, Colin A. Johnson, Paul Gissen et al. · Nature Genetics · 2005 · 224 citations

Mendelian Disorder, Genetic Disorder, Natural Sciences +7

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

Catherine Deveault, Gail Billingsley, Jacque L. Duncan et al. · Human Mutation · 2011 · 123 citations

Neurological Disorder, Genetic Epidemiology, Pathology +22

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population

G D Billingsley, Jenea M. Bin, Karen Fieggen et al. · Journal of Medical Genetics · 2010 · 90 citations

Aetiology of childhood hearing loss in Cameroon (sub-Saharan Africa)

Ambroise Wonkam, Jean Jacques Noubiap, François Djomou et al. · European Journal of Medical Genetics · 2012 · 59 citations

Pediatric Otolaryngology, Childhood Hearing Loss, Audiology +6

Cornelia de Lange syndrome in diverse populations

Leah Dowsett, Antonio R. Porras, Paul Kruszka et al. · American Journal of Medical Genetics Part A · 2019 · 53 citations · Full text

Autoimmune Disease, Ophthalmology, Scleroderma +15