Karen Fieggen

Karen Fieggen

University of Cape Town - Cape Town / South Africa
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 100746
Universiteit van Kaapstad
person_outline Karen Fieggen's MOST POPULAR ARTICLES
1-) Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndromeV Laugel, C Dalloz, M Durand, F Sauvanaud, U Kristensen, MC Vincent, ...Human mutation 31 (2), 113-126, 20102542010
2-) Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndromeIA Aligianis, CA Johnson, P Gissen, D Chen, D Hampshire, K Hoffmann, ...Nature genetics 37 (3), 221-224, 20052532005
3-) BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definitionC Deveault, G Billingsley, JL Duncan, J Bin, R Theal, A Vincent, ...Human mutation 32 (6), 610-619, 20111212011
4-) Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient populationG Billingsley, J Bin, KJ Fieggen, JL Duncan, C Gerth, K Ogata, SS Wodak, ...Journal of medical genetics 47 (7), 453-463, 20101002010
5-) Williams–Beuren syndrome in diverse populationsP Kruszka, AR Porras, DH De Souza, A Moresco, V Huckstadt, AD Gill, ...American Journal of Medical Genetics Part A 176 (5), 1128-1136, 2018822018