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 | 928 | 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 | 416 | 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 | 345 | 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 | 294 | 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 | 233 | 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 | 202 | 2013 |
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 | 141 | 2012 |
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 | 137 | 2004 |
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 | 137 | 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 | 125 | 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 |
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 | 78 | 2018 |
Music selection behaviors in everyday listening A Krause, A North, L Hewitt Journal of Broadcasting & Electronic Media 58 (2), 306-323, 2014 | 77 | 2014 |
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 | 77 | 2013 |
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 | 74 | 2005 |
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 | 73 | 2011 |
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 | 66 | 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 | 65 | 2015 |
Genetic factors influencing warfarin dose in Black‐African patients: a systematic review and meta‐analysis IG Asiimwe, EJ Zhang, R Osanlou, A Krause, C Dillon, G Suarez‐Kurtz, ... Clinical Pharmacology & Therapeutics 107 (6), 1420-1433, 2020 | 63 | 2020 |
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 | 57 | 1996 |