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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Essop F, Dillon B, Mhlongo F, Bhengu L, Naicker T, Lambie L, Smit L, Fieggen K, Lochan A, Dawson J, Mpangase P, Hauptfleisch M, Scher G, Tabane O, Immelman M, Urban M, Krause A. Correction: STAC3 disorder: a common cause of congenital hypotonia in Southern African patients. Eur J Hum Genet. 2024 Jul 30. PMID: 39080471.
      Citations:    Fields:    
    2. Wiener E, Cottino L, Botha G, Nyangiri O, Noyes H, McLeod A, Jakubosky D, Adebamowo C, Awadalla P, Landour? G, Matshaba M, Matovu E, Ramsay M, Simo G, Simuunza M, Tiemessen C, Wonkam A, Sahibdeen V, Krause A, Lombard Z, Hazelhurst S, as members of the H3Africa Consortium. An assessment of the genomic structural variation landscape in Sub-Saharan African populations. Res Sq. 2024 Jul 08. PMID: 39041024; PMCID: PMC11261963.
      Citations:    
    3. Essop F, Dillon B, Mhlongo F, Bhengu L, Naicker T, Lambie L, Smit L, Fieggen K, Lochan A, Dawson J, Mpangase P, Hauptfleisch M, Scher G, Tabane O, Immelman M, Urban M, Krause A. STAC3 disorder: a common cause of congenital hypotonia in Southern African patients. Eur J Hum Genet. 2024 Jun 01. PMID: 38824262.
      Citations:    Fields:    
    4. Narotam-Jeena H, Guttman M, van Hillegondsberg L, van Coller R, Krause A, Carr J. Atypical Presentations of Huntington Disease-like 2 in South African Individuals. Mov Disord Clin Pract. 2024 Jul; 11(7):850-854. PMID: 38725192; PMCID: PMC11233840.
      Citations:    Fields:    Translation:Humans
    5. Bocoum A, Ouologuem M, Ciss? L, Essop F, Dit Papa Coulibaly S, Botha N, Ciss? CAK, Dit Baneye Maiga A, Krause A, Landour? G, H3Africa consortium. The First Case of Huntington's Disease like 2 in Mali, West Africa. Tremor Other Hyperkinet Mov (N Y). 2024; 14:15. PMID: 38617831; PMCID: PMC11011944.
      Citations:    Fields:    Translation:Humans
    6. Mudau MM, Dillon B, Smal C, Feben C, Honey E, Carstens N, Krause A. Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype. Front Genet. 2024; 15:1331278. PMID: 38596211; PMCID: PMC11002079.
      Citations: 1     
    7. Seymour H, Feben C, Nevondwe P, Kerr R, Spencer C, Mudau M, Honey E, Lombard Z, Krause A, Carstens N. Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype. Mol Genet Genomic Med. 2024 Jan; 12(1):e2342. PMID: 38284454; PMCID: PMC10785556.
      Citations:    Fields:    Translation:Humans
    8. Krause A, Anderson DG, Ferreira-Correia A, Dawson J, Baine-Savanhu F, Li PP, Margolis RL. Huntington disease-like 2: insight into neurodegeneration from an African disease. Nat Rev Neurol. 2024 01; 20(1):36-49. PMID: 38114648.
      Citations: 1     Fields:    Translation:Humans
    9. Shingwenyana B, Rossouw B, Thom J, Louw N, Krause A, Lombard Z, DDD-Africa Research Group, as members of The H3Africa Consortium. Research participants' perspectives regarding the feedback of secondary findings-A cohort from the DDD-Africa study, South Africa. J Genet Couns. 2023 Nov 15. PMID: 37965991; PMCID: PMC11093881.
      Citations:    Fields:    
    10. Campbell L, Fredericks J, Mathivha K, Moshesh P, Coovadia A, Chirwa P, Dillon B, Ghoor A, Lawrence D, Nair L, Mabaso N, Mokwele D, Novellie M, Krause A, Carstens N. The implementation and utility of clinical exome sequencing in a South African infant cohort. Front Genet. 2023; 14:1277948. PMID: 38028619; PMCID: PMC10665497.
      Citations:    
    11. Mudau MM, Seymour H, Nevondwe P, Kerr R, Spencer C, Feben C, Lombard Z, Honey E, Krause A, Carstens N. A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments. J Community Genet. 2024 Feb; 15(1):39-48. PMID: 37815686; PMCID: PMC10858011.
      Citations:    
    12. Pinto EM, Fridman C, Figueiredo BC, Salvador H, Teixeira MR, Pinto C, Pinheiro M, Kratz CP, Lavarino C, Legal EAMF, Le A, Kelly G, Koeppe E, Stoffel EM, Breen K, Hahner S, Heinze B, Techavichit P, Krause A, Ogata T, Fujisawa Y, Walsh MF, Rana HQ, Maxwell KN, Garber JE, Rodriguez-Galindo C, Ribeiro RC, Zambetti GP. Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility. HGG Adv. 2024 Jan 11; 5(1):100244. PMID: 37794678; PMCID: PMC10597792.
      Citations:    Fields:    Translation:Humans
    13. Tsabedze N, Mpanya D, Bailly C, Nel S, Grinter S, Ramsay M, Krause A, Wells Q, Manga P. Clinical characteristics and one-year all-cause mortality outcomes in Africans with dilated cardiomyopathy. Int J Cardiol. 2023 09 15; 387:131142. PMID: 37364715.
      Citations: 1     Fields:    Translation:Humans
    14. Baine-Savanhu F, Macaulay S, Louw N, Bollweg A, Flynn K, Molatoli M, Nevondwe P, Seymour H, Carstens N, Krause A, Lombard Z. Identifying the genetic causes of developmental disorders and intellectual disability in Africa: a systematic literature review. Front Genet. 2023; 14:1137922. PMID: 37234869; PMCID: PMC10208355.
      Citations: 2     
    15. Wiener EK, Buchanan J, Krause A, Lombard Z, DDD-Africa?Study, as members of the H3Africa Consortium. Retrospective file review shows limited genetic services fails most patients - an argument for the implementation of exome sequencing as a first-tier test in resource-constraint settings. Orphanet J Rare Dis. 2023 04 12; 18(1):81. PMID: 37046271; PMCID: PMC10091645.
      Citations: 3     Fields:    Translation:Humans
    16. Tsabedze N, Ramsay M, Krause A, Wells Q, Mpanya D, Manga P. The genetic basis for adult-onset idiopathic dilated cardiomyopathy in people of African descent. Heart Fail Rev. 2023 Jul; 28(4):879-892. PMID: 36917398; PMCID: PMC10011790.
      Citations:    Fields:    Translation:Humans
    17. Dawson J, Baine-Savanhu FK, Ciosi M, Maxwell A, Monckton DG, Krause A. A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry. HGG Adv. 2022 Oct 13; 3(4):100130. PMID: 35935919; PMCID: PMC9352962.
      Citations: 5     Fields:    
    18. Lumaka A, Carstens N, Devriendt K, Krause A, Kulohoma B, Kumuthini J, Mubungu G, Mukisa J, Nel M, Olanrewaju TO, Lombard Z, Landour? G, as members of the Rare Disease Working Group of the H3Africa Consortium. Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group. Orphanet J Rare Dis. 2022 06 16; 17(1):230. PMID: 35710439; PMCID: PMC9201791.
      Citations: 18     Fields:    Translation:Humans
    19. Riggs ER, Bingaman TI, Barry CA, Behlmann A, Bluske K, Bostwick B, Bright A, Chen CA, Clause AR, Dharmadhikari AV, Ganapathi M, Gonzaga-Jauregui C, Grant AR, Hughes MY, Kim SR, Krause A, Liao J, Lumaka A, Mah M, Maloney CM, Mohan S, Osei-Owusu IA, Reble E, Rennie O, Savatt JM, Shimelis H, Siegert RK, Sneddon TP, Thaxton C, Toner KA, Tran KT, Webb R, Wilcox EH, Yin J, Zhuo X, Znidarsic M, Martin CL, Betancur C, Vorstman JAS, Miller DT, Schaaf CP. Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels. Genet Med. 2022 May 25. PMID: 35616647.
      Citations: 6     Fields:    Translation:Humans
    20. Cottino L, Sahibdeen V, Mudau M, Lekgate N, Krause A. QF-PCR: a valuable first-line prenatal and postnatal test for common aneuploidies in South Africa. J Community Genet. 2022 Mar 15. PMID: 35292940.
      Citations: 1     
    21. Kamp M, Krause A, Ramsay M. Has translational genomics come of age in Africa? Hum Mol Genet. 2021 10 01; 30(20):R164-R173. PMID: 34240178.
      Citations: 12     Fields:    Translation:HumansCells
    22. Siddiqui N, Seedat F, Bulbulia S, Mtshali NZ, Botha A, Krause A, Daya R, Bayat Z. SDHB-Associated Paraganglioma Syndrome in Africa-A Need for Greater Genetic Testing. J Endocr Soc. 2021 Oct 01; 5(10):bvab111. PMID: 34377882; PMCID: PMC8348940.
      Citations: 1     
    23. Flynn K, Feben C, Lamola L, Carstens N, Krause A, Lombard Z, for DDD-Africa as members of the H3Africa Consortium. Ending a diagnostic odyssey-The first case of Takenouchi-Kosaki syndrome in an African patient. Clin Case Rep. 2021 Apr; 9(4):2144-2148. PMID: 33936654; PMCID: PMC8077267.
      Citations: 4     
    24. Dillon B, Feben C, Segal D, du Plessis J, Reynders D, Wainwright R, Poole J, Krause A. Endocrine profiling in patients with Fanconi anemia, homozygous for a FANCG founder mutation. Mol Genet Genomic Med. 2020 08; 8(8):e1351. PMID: 32529760; PMCID: PMC7434606.
      Citations: 4     Fields:    Translation:Humans
    25. Ferreira-Correia A, Anderson DG, Cockcroft K, Krause A. A comparison between the neurocognitive profile of Huntington Disease-Like 2 and Huntington Disease: Exploring the presence of double dissociations. Appl Neuropsychol Adult. 2022 Mar-Apr; 29(2):223-233. PMID: 32149528.
      Citations: 1     Fields:    Translation:Humans
    26. Satekge TM, Kiabilua O, Krause A, Pillay TS. Five years of screening for galactosaemia in South Africa: Pitfalls of using Benedict's test and thin layer chromatography to screen for galactosaemia in a developing country. Clin Chim Acta. 2020 Jun; 505:73-77. PMID: 32092319.
      Citations:    Fields:    Translation:HumansPHPublic Health
    27. Vorster E, Essop FB, Rodda JL, Krause A. Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement? Front Genet. 2020; 11:54. PMID: 32117462; PMCID: PMC7033609.
      Citations: 9     
    28. Asiimwe IG, Zhang EJ, Osanlou R, Krause A, Dillon C, Suarez-Kurtz G, Zhang H, Perini JA, Renta JY, Duconge J, Cavallari LH, Marcatto LR, Beasly MT, Perera MA, Limdi NA, Santos PCJL, Kimmel SE, Lubitz SA, Scott SA, Kawai VK, Jorgensen AL, Pirmohamed M. Genetic Factors Influencing Warfarin Dose in Black-African Patients: A Systematic Review and Meta-Analysis. Clin Pharmacol Ther. 2020 06; 107(6):1420-1433. PMID: 31869433; PMCID: PMC7217737.
      Citations: 19     Fields:    Translation:Humans
    29. Ferreira-Correia A, Anderson DG, Cockcroft K, Krause A. Single case-control design for the study of the neuropsychological deficits and dissociations in Huntington's disease-like 2. MethodsX. 2020; 7:100782. PMID: 32021824; PMCID: PMC6995251.
      Citations: 1     
    30. Ferreira-Correia A, Krause A, Anderson DG. The Neuropsychiatry of Huntington Disease-Like 2: A Comparison with Huntington's Disease. J Huntingtons Dis. 2020; 9(4):325-334. PMID: 33044188.
      Citations: 2     Fields:    Translation:Humans
    31. Kay C, Collins JA, Caron NS, Agostinho LA, Findlay-Black H, Casal L, Sumathipala D, Dissanayake VHW, Cornejo-Olivas M, Baine F, Krause A, Greenberg JL, Paiva CLA, Squitieri F, Hayden MR. A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease. Am J Hum Genet. 2019 12 05; 105(6):1112-1125. PMID: 31708117; PMCID: PMC6904807.
      Citations: 12     Fields:    Translation:HumansCells
    32. Ferreira-Correia A, Anderson DG, Cockcroft K, Krause A. The neuropsychological deficits and dissociations in Huntington Disease-Like 2: A series of case-control studies. Neuropsychologia. 2020 01; 136:107238. PMID: 31704316.
      Citations: 3     Fields:    Translation:Humans
    33. Bailly C, Henriques S, Tsabedze N, Krause A. Role of family history and clinical screening in the identification of families with idiopathic dilated cardiomyopathy in Johannesburg, South Africa. S Afr Med J. 2019 Aug 28; 109(9):673-678. PMID: 31635593.
      Citations: 4     Fields:    Translation:HumansPHPublic Health
    34. Carzis B, Wainstein T, Gobetz L, Krause A. Review of 10 years of preimplantation genetic diagnosis in South Africa: implications for a low-to-middle-income country. J Assist Reprod Genet. 2019 Sep; 36(9):1909-1916. PMID: 31350724; PMCID: PMC6730725.
      Citations:    Fields:    Translation:Humans
    35. Anderson DG, Ferreira-Correia A, Rodrigues FB, Aziz NA, Carr J, Wild EJ, Margolis RL, Krause A. Comparison of the Huntington's Disease like 2 and Huntington's Disease Clinical Phenotypes. Mov Disord Clin Pract. 2019 Apr; 6(4):302-311. PMID: 31061838; PMCID: PMC6476590.
      Citations: 8     Fields:    
    36. Anderson DG, Haagensen M, Ferreira-Correia A, Pierson R, Carr J, Krause A, Margolis RL. Emerging differences between Huntington's disease-like 2 and Huntington's disease: A comparison using MRI brain volumetry. Neuroimage Clin. 2019; 21:101666. PMID: 30682531; PMCID: PMC6350216.
      Citations: 6     Fields:    Translation:HumansCells
    37. Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Sch?newolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC. Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service. J Neuromuscul Dis. 2019; 6(2):241-258. PMID: 31127727.
      Citations: 24     Fields:    Translation:Humans
    38. Macaulay S, Goodyear QC, Kruger M, Chen W, Essop F, Krause A. The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome. Fam Cancer. 2018 10; 17(4):607-613. PMID: 29392648.
      Citations: 3     Fields:    Translation:Humans
    39. Krause A, Seymour H, Ramsay M. Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations. Annu Rev Genomics Hum Genet. 2018 08 31; 19:149-175. PMID: 30169122.
      Citations: 5     Fields:    Translation:Humans
    40. Feben C, Wainstein T, Kromberg J, Essop F, Krause A. Fanconi anaemia in South Africa: Past, present and future. S Afr Med J. 2018 Apr 25; 108(5):393-398. PMID: 29843852.
      Citations: 2     Fields:    Translation:Humans
    41. Baine FK, Peerbhai N, Krause A. A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci. J Neurol Sci. 2018 07 15; 390:200-204. PMID: 29801887.
      Citations: 7     Fields:    Translation:Humans
    42. Spencer C, Lombaard H, Wise A, Krause A, Robertson SP. A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males. Am J Med Genet A. 2018 04; 176(4):980-984. PMID: 29575627.
      Citations: 3     Fields:    Translation:HumansCells
    43. Kay C, Collins JA, Wright GEB, Baine F, Miedzybrodzka Z, Aminkeng F, Semaka AJ, McDonald C, Davidson M, Madore SJ, Gordon ES, Gerry NP, Cornejo-Olivas M, Squitieri F, Tishkoff S, Greenberg JL, Krause A, Hayden MR. The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population. Am J Med Genet B Neuropsychiatr Genet. 2018 04; 177(3):346-357. PMID: 29460498.
      Citations: 29     Fields:    Translation:HumansCells
    44. Anderson DG, Carmona S, Naidoo K, Coetzer TL, Carr J, Rudnicki DD, Walker RH, Margolis RL, Krause A. Absence of Acanthocytosis in Huntington's Disease-like 2: A Prospective Comparison with Huntington's Disease. Tremor Other Hyperkinet Mov (N Y). 2017; 7:512. PMID: 29226019; PMCID: PMC5721130.
      Citations: 5     Fields:    Translation:HumansCells
    45. Feben C, Spencer C, Lochan A, Laing N, Fieggen K, Honey E, Wainstein T, Krause A. Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia. Fam Cancer. 2017 07; 16(3):441-446. PMID: 28185119.
      Citations: 5     Fields:    Translation:Humans
    46. Anderson DG, Walker RH, Connor M, Carr J, Margolis RL, Krause A. A Systematic Review of the Huntington Disease-Like 2 Phenotype. J Huntingtons Dis. 2017; 6(1):37-46. PMID: 28339400.
      Citations: 15     Fields:    Translation:Humans
    47. Mudau MM, Essop F, Krause A. A novel FKRP-related muscular dystrophy founder mutation in South African Afrikaner patients with a phenotype suggestive of a dystrophinopathy. S Afr Med J. 2016 Dec 21; 107(1):80-82. PMID: 28112097.
      Citations: 2     Fields:    
    48. Anderson DG, Németh AH, Fawcett KA, Sims D, Miller J, Krause A. Deep Brain Stimulation in Three Related Cases of North Sea Progressive Myoclonic Epilepsy from South Africa. Mov Disord Clin Pract. 2017 Mar-Apr; 4(2):249-253. PMID: 30838261; PMCID: PMC6353414.
      Citations: 5     Fields:    
    49. Baine FK, Krause A, Greenberg LJ. The Frequency of Huntington Disease and Huntington Disease-Like 2 in the South African Population. Neuroepidemiology. 2016; 46(3):198-202. PMID: 26882115.
      Citations: 9     Fields:    Translation:HumansPHPublic Health
    50. Van Wyk C, Wessels TM, Kromberg JG, Krause A. Knowledge regarding basic concepts of hereditary cancers, and the available genetic counselling and testing services: A survey of general practitioners in Johannesburg, South Africa. S Afr Med J. 2016 Feb 04; 106(3):268-71. PMID: 26915940.
      Citations: 4     Fields:    
    51. Seymour HJ, Wainstein T, Macaulay S, Haw T, Krause A. Breast cancer in high-risk Afrikaner families: Is BRCA founder mutation testing sufficient? S Afr Med J. 2016 Feb 03; 106(3):264-7. PMID: 26915939.
      Citations: 7     Fields:    
    52. Lombard Z, Baine F, Krause A, Lochan A, Macualay S, Spencer C, Aldous C, De Vries J, Fieggen K, Henderson B, Hoal E, Kinnear C, Kinsley N, September A, Urban M, Soodyall H, Pepper M, Ramsay M. Implications of direct-to-consumer whole-exome sequencing in South Africa. S Afr Med J. 2016 Jan 12; 106(2):139-40. PMID: 26821891.
      Citations: 2     Fields:    Translation:Humans
    53. Krause A. Understanding the genetic diversity of South Africa's peoples. S Afr Med J. 2015 Sep 21; 105(7):544-5. PMID: 26428747.
      Citations: 1     Fields:    
    54. Krause A, Mitchell C, Essop F, Tager S, Temlett J, Stevanin G, Ross C, Rudnicki D, Margolis R. Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype. Am J Med Genet B Neuropsychiatr Genet. 2015 Oct; 168(7):573-85. PMID: 26079385; PMCID: PMC4565761.
      Citations: 17     Fields:    Translation:HumansCells
    55. Gillham A, Greyling B, Wessels TM, Mbele B, Schwyzer R, Krause A, Mahlangu J. Uptake of Genetic Counseling, Knowledge of Bleeding risks and Psychosocial Impact in a South African Cohort of Female Relatives of People with Hemophilia. J Genet Couns. 2015 Dec; 24(6):978-86. PMID: 25828422.
      Citations: 6     Fields:    Translation:Humans
    56. Feben C, Kromberg J, Wainwright R, Stones D, Poole J, Haw T, Krause A. Hematological consequences of a FANCG founder mutation in Black South African patients with Fanconi anemia. Blood Cells Mol Dis. 2015 Mar; 54(3):270-4. PMID: 25477267.
      Citations: 4     Fields:    Translation:Humans
    57. Lambie L, Amin R, Essop F, Cnaan A, Krause A, Guay-Woodford LM. Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD. Pediatr Nephrol. 2015 Feb; 30(2):273-9. PMID: 25193386.
      Citations: 6     Fields:    Translation:Humans
    58. Lochan A, Macaulay S, Chen WC, Mahlangu JN, Krause A. Genetic factors influencing inhibitor development in a cohort of South African haemophilia A patients. Haemophilia. 2014 Sep; 20(5):687-92. PMID: 24953131.
      Citations: 6     Fields:    Translation:Humans
    59. D?murger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Qu?lin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarban? A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, Andr? G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Genevi?ve D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T. New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet. 2015 Jan; 23(1):92-102. PMID: 24736735; PMCID: PMC4266745.
      Citations: 44     Fields:    Translation:Humans
    60. Feben C, Kromberg J, Wainwright R, Stones D, Sutton C, Poole J, Haw T, Krause A. Phenotypic consequences in black South African Fanconi anemia patients homozygous for a founder mutation. Genet Med. 2014 May; 16(5):400-6. PMID: 24136620.
      Citations: 5     Fields:    Translation:Humans
    61. Kromberg JG, Ramsay M, Krause A, Soodyall H. Professor Trefor Jenkins: a tribute. S Afr Med J. 2013 Oct 16; 103(12 Suppl 1):956-1034. PMID: 24300658.
      Citations:    Fields:    
    62. Krause A, Wainstein T, Essop FB, Goodyear Q. Testing for haemoglobinopathies in Johannesburg, South Africa: a 30-year review. S Afr Med J. 2013 Oct 11; 103(12 Suppl 1):989-93. PMID: 24300645.
      Citations: 3     Fields:    Translation:Humans
    63. Essop FB, Krause A. Diagnostic, carrier and prenatal genetic testing for fragile X syndrome and other FMR-1-related disorders in Johannesburg, South Africa: a 20-year review. S Afr Med J. 2013 Oct 11; 103(12 Suppl 1):994-8. PMID: 24300646.
      Citations: 11     Fields:    Translation:Humans
    64. Kromberg JG, Krause A. Human genetics in Johannesburg, South Africa: past, present and future. S Afr Med J. 2013 Oct 11; 103(12 Suppl 1):957-61. PMID: 24300637.
      Citations: 2     Fields:    Translation:Humans
    65. Wainstein T, Kerr R, Mitchell CL, Madaree S, Essop FB, Vorster E, Wainwright R, Poole J, Krause A. Fanconi anaemia in black South African patients heterozygous for the FANCG c.637-643delTACCGCC founder mutation. S Afr Med J. 2013 Oct 11; 103(12 Suppl 1):970-3. PMID: 24300640.
      Citations: 4     Fields:    Translation:Humans
    66. Kerr R, Robinson C, Essop FB, Krause A. Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa. S Afr Med J. 2013 Oct 10; 103(12 Suppl 1):999-1004. PMID: 24300647.
      Citations: 4     Fields:    Translation:Humans
    67. Teckie G, Krause A, Kromberg JG. Neural tube defects in Gauteng, South Africa: recurrence risks and associated factors. S Afr Med J. 2013 Sep 17; 103(12 Suppl 1):973-7. PMID: 24300641.
      Citations: 7     Fields:    Translation:Humans
    68. Kromberg JG, Wessels TM, Krause A. Roles of genetic counselors in South Africa. J Genet Couns. 2013 Dec; 22(6):753-61. PMID: 23723047.
      Citations: 8     Fields:    Translation:Humans
    69. Baine FK, Kay C, Ketelaar ME, Collins JA, Semaka A, Doty CN, Krause A, Greenberg LJ, Hayden MR. Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes. Eur J Hum Genet. 2013 Oct; 21(10):1120-7. PMID: 23463025; PMCID: PMC3778359.
      Citations: 27     Fields:    Translation:Humans
    70. Moosa S, Lambie LA, Krause A. Sirenomelia: four further cases with discussion of associated upper limb defects. Clin Dysmorphol. 2012 Jul; 21(3):124-130. PMID: 22660421.
      Citations: 5     Fields:    Translation:HumansCells
    71. L?ger S, Balguerie X, Goldenberg A, Drouin-Garraud V, Cabot A, Amstutz-Montadert I, Young P, Joly P, Bodereau V, Holder-Espinasse M, Jamieson RV, Krause A, Chen H, Baumann C, Nunes L, Dollfus H, Goossens M, Pingault V. Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. Eur J Hum Genet. 2012 May; 20(5):584-7. PMID: 22258527; PMCID: PMC3330215.
      Citations: 18     Fields:    Translation:Humans
    72. Sizer EB, Haw T, Wessels TM, Kromberg JG, Krause A. The utilization and outcome of diagnostic, predictive, and prenatal genetic testing for huntington disease in johannesburg, South Africa. Genet Test Mol Biomarkers. 2012 Jan; 16(1):58-62. PMID: 21838519.
      Citations: 11     Fields:    Translation:Humans
    73. Mitchell C, Gregersen N, Krause A. Novel CYP2C9 and VKORC1 gene variants associated with warfarin dosage variability in the South African black population. Pharmacogenomics. 2011 Jul; 12(7):953-63. PMID: 21635147.
      Citations: 27     Fields:    Translation:Humans
    74. Krause A, Greenberg J. Genetic testing for Huntington's disease in South Africa. S Afr Med J. 2008 Mar; 98(3):193-4. PMID: 18350219.
      Citations: 1     Fields:    Translation:Humans
    75. Labrum R, Rodda J, Krause A. The molecular basis of spinal muscular atrophy (SMA) in South African black patients. Neuromuscul Disord. 2007 Oct; 17(9-10):684-92. PMID: 17627822.
      Citations: 19     Fields:    Translation:HumansCells
    76. Chersich MF, Urban MF, Venter FW, Wessels T, Krause A, Gray GE, Luchters S, Viljoen DL. Efavirenz use during pregnancy and for women of child-bearing potential. AIDS Res Ther. 2006 Apr 07; 3:11. PMID: 16603057; PMCID: PMC1468418.
      Citations: 7     Fields:    
    77. Morgan NV, Essop F, Demuth I, de Ravel T, Jansen S, Tischkowitz M, Lewis CM, Wainwright L, Poole J, Joenje H, Digweed M, Krause A, Mathew CG. A common Fanconi anemia mutation in black populations of sub-Saharan Africa. Blood. 2005 May 01; 105(9):3542-4. PMID: 15657175.
      Citations: 17     Fields:    Translation:HumansCells
    78. Margolis RL, Holmes SE, Rosenblatt A, Gourley L, O'Hearn E, Ross CA, Seltzer WK, Walker RH, Ashizawa T, Rasmussen A, Hayden M, Almqvist EW, Harris J, Fahn S, MacDonald ME, Mysore J, Shimohata T, Tsuji S, Potter N, Nakaso K, Adachi Y, Nakashima K, Bird T, Krause A, Greenstein P. Huntington's Disease-like 2 (HDL2) in North America and Japan. Ann Neurol. 2004 Nov; 56(5):670-4. PMID: 15468075.
      Citations: 24     Fields:    Translation:HumansCells
    79. Bryer A, Krause A, Bill P, Davids V, Bryant D, Butler J, Heckmann J, Ramesar R, Greenberg J. The hereditary adult-onset ataxias in South Africa. J Neurol Sci. 2003 Dec 15; 216(1):47-54. PMID: 14607302.
      Citations: 32     Fields:    Translation:HumansCells
    80. De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto PA, Krause A, Leroy BP, Meire F, Plomp A, Van Maldergem L, De Paepe A, Veitia R, Messiaen L. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet. 2003 Feb; 72(2):478-87. PMID: 12529855; PMCID: PMC379240.
      Citations: 66     Fields:    Translation:HumansCells
    81. Stevens G, Yawitch T, Rodda J, Verhaart S, Krause A. Different molecular basis for spinal muscular atrophy in South African black patients. Am J Med Genet. 1999 Oct 29; 86(5):420-6. PMID: 10508982.
      Citations: 8     Fields:    Translation:HumansCells
    82. Silber E, Kromberg J, Temlett JA, Krause A, Saffer D. Huntington's disease confirmed by genetic testing in five African families. Mov Disord. 1998 Jul; 13(4):726-30. PMID: 9686782.
      Citations: 5     Fields:    Translation:HumansCells
    83. Dangerfield BT, Manga P, Field SP, Hartman E, Jenkins T, Krause A. Feasibility of prenatal diagnosis and carrier detection in South African haemophilia A patients. Br J Haematol. 1997 Jun; 97(3):558-60. PMID: 9207400.
      Citations: 1     Fields:    Translation:Humans
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