| A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length DR Langbehn, RR Brinkman, D Falush, JS Paulsen, MR Hayden, ... Clinical genetics 65 (4), 267-277, 2004 | 887 | 2004 |
| A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease EW Almqvist, M Bloch, R Brinkman, D Craufurd, MR Hayden The American Journal of Human Genetics 64 (5), 1293-1304, 1999 | 412 | 1999 |
| Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes EM Valente, CV Logan, S Mougou-Zerelli, JH Lee, JL Silhavy, F Brancati, ... Nature genetics 42 (7), 619-625, 2010 | 323 | 2010 |
| FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation E De Baere, D Beysen, C Oley, B Lorenz, J Cocquet, P De Sutter, ... The American Journal of Human Genetics 72 (2), 478-487, 2003 | 292 | 2003 |
| Lactase haplotype diversity in the Old World EJ Hollox, M Poulter, M Zvarik, V Ferak, A Krause, T Jenkins, N Saha, ... The American Journal of Human Genetics 68 (1), 160-172, 2001 | 235 | 2001 |
| Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan E Stevens, KJ Carss, S Cirak, AR Foley, S Torelli, T Willer, DE Tambunan, ... The American Journal of Human Genetics 92 (3), 354-365, 2013 | 191 | 2013 |
| Huntington's disease–like 2 (HDL2) in North America and Japan RL Margolis, SE Holmes, A Rosenblatt, L Gourley, E O'Hearn, CA Ross, ... Annals of Neurology: Official Journal of the American Neurological …, 2004 | 140 | 2004 |
| Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy J Böhm, V Biancalana, ET DeChene, M Bitoun, CR Pierson, E Schaefer, ... Human mutation 33 (6), 949-959, 2012 | 138 | 2012 |
| Interpretation of rubella serology in pregnancy—pitfalls and problems JM Best, S O'Shea, G Tipples, N Davies, SM Al-Khusaiby, A Krause, ... Bmj 325 (7356), 147-148, 2002 | 135 | 2002 |
| New insights into genotype–phenotype correlation for GLI3 mutations F Démurger, A Ichkou, S Mougou-Zerelli, M Le Merrer, G Goudefroye, ... European Journal of Human Genetics 23 (1), 92-102, 2015 | 119 | 2015 |
| The hereditary adult-onset ataxias in South Africa A Bryer, A Krause, P Bill, V Davids, D Bryant, J Butler, J Heckmann, ... Journal of the neurological sciences 216 (1), 47-54, 2003 | 108 | 2003 |
| Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes FK Baine, C Kay, ME Ketelaar, JA Collins, A Semaka, CN Doty, A Krause, ... European Journal of Human Genetics 21 (10), 1120-1127, 2013 | 73 | 2013 |
| Novel CYP2C9 and VKORC1 gene variants associated with warfarin dosage variability in the South African black population C Mitchell, N Gregersen, A Krause Pharmacogenomics 12 (7), 953-963, 2011 | 72 | 2011 |
| A common Fanconi anemia mutation in black populations of sub-Saharan Africa NV Morgan, F Essop, I Demuth, T de Ravel, S Jansen, M Tischkowitz, ... Blood 105 (9), 3542-3544, 2005 | 71 | 2005 |
| Music selection behaviors in everyday listening A Krause, A North, L Hewitt Journal of Broadcasting & Electronic Media 58 (2), 306-323, 2014 | 70 | 2014 |
| The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population C Kay, JA Collins, GEB Wright, F Baine, Z Miedzybrodzka, F Aminkeng, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177 …, 2018 | 69 | 2018 |
| Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington … A Krause, C Mitchell, F Essop, S Tager, J Temlett, G Stevanin, C Ross, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 168 …, 2015 | 58 | 2015 |
| BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative … FZ Francies, T Wainstein, K De Leeneer, A Cairns, M Murdoch, S Nietz, ... BMC cancer 15, 1-10, 2015 | 57 | 2015 |
| Efavirenz use during pregnancy and for women of child-bearing potential MF Chersich, MF Urban, FWD Venter, T Wessels, A Krause, GE Gray, ... AIDS research and therapy 3, 1-6, 2006 | 55 | 2006 |
| Beta-globin haplotype analysis suggests that a major source of Malagasy ancestry is derived from Bantu-speaking Negroids. R Hewitt, A Krause, A Goldman, G Campbell, T Jenkins American journal of human genetics 58 (6), 1303, 1996 | 54 | 1996 |
