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Connection

Amanda Krause to South Africa

This is a "connection" page, showing publications Amanda Krause has written about South Africa.
Connection Strength

1,128
  1. Endocrine profiling in patients with Fanconi anemia, homozygous for a FANCG founder mutation. Mol Genet Genomic Med. 2020 08; 8(8):e1351.
    View in: PubMed
    Score: 0,070
  2. 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.
    View in: PubMed
    Score: 0,066
  3. 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.
    View in: PubMed
    Score: 0,065
  4. Fanconi anaemia in South Africa: Past, present and future. S Afr Med J. 2018 Apr 25; 108(5):393-398.
    View in: PubMed
    Score: 0,060
  5. 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.
    View in: PubMed
    Score: 0,060
  6. Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia. Fam Cancer. 2017 07; 16(3):441-446.
    View in: PubMed
    Score: 0,057
  7. 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.
    View in: PubMed
    Score: 0,049
  8. 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.
    View in: PubMed
    Score: 0,047
  9. Genetic factors influencing inhibitor development in a cohort of South African haemophilia A patients. Haemophilia. 2014 Sep; 20(5):687-92.
    View in: PubMed
    Score: 0,046
  10. Phenotypic consequences in black South African Fanconi anemia patients homozygous for a founder mutation. Genet Med. 2014 May; 16(5):400-6.
    View in: PubMed
    Score: 0,044
  11. Human genetics in Johannesburg, South Africa: past, present and future. S Afr Med J. 2013 Oct 11; 103(12 Suppl 1):957-61.
    View in: PubMed
    Score: 0,044
  12. 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.
    View in: PubMed
    Score: 0,044
  13. Testing for haemoglobinopathies in Johannesburg, South Africa: a 30-year review. S Afr Med J. 2013 Oct 11; 103(12 Suppl 1):989-93.
    View in: PubMed
    Score: 0,044
  14. 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.
    View in: PubMed
    Score: 0,044
  15. Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa. S Afr Med J. 2013 Oct 10; 103(12 Suppl 1):999-1004.
    View in: PubMed
    Score: 0,044
  16. Roles of genetic counselors in South Africa. J Genet Couns. 2013 Dec; 22(6):753-61.
    View in: PubMed
    Score: 0,043
  17. 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.
    View in: PubMed
    Score: 0,038
  18. Novel CYP2C9 and VKORC1 gene variants associated with warfarin dosage variability in the South African black population. Pharmacogenomics. 2011 Jul; 12(7):953-63.
    View in: PubMed
    Score: 0,037
  19. Genetic testing for Huntington's disease in South Africa. S Afr Med J. 2008 Mar; 98(3):193-4.
    View in: PubMed
    Score: 0,030
  20. The molecular basis of spinal muscular atrophy (SMA) in South African black patients. Neuromuscul Disord. 2007 Oct; 17(9-10):684-92.
    View in: PubMed
    Score: 0,028
  21. Atypical Presentations of Huntington Disease-like 2 in South African Individuals. Mov Disord Clin Pract. 2024 Jul; 11(7):850-854.
    View in: PubMed
    Score: 0,023
  22. Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype. Mol Genet Genomic Med. 2024 Jan; 12(1):e2342.
    View in: PubMed
    Score: 0,022
  23. 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.
    View in: PubMed
    Score: 0,017
  24. Different molecular basis for spinal muscular atrophy in South African black patients. Am J Med Genet. 1999 Oct 29; 86(5):420-6.
    View in: PubMed
    Score: 0,017
  25. The Frequency of Huntington Disease and Huntington Disease-Like 2 in the South African Population. Neuroepidemiology. 2016; 46(3):198-202.
    View in: PubMed
    Score: 0,013
  26. Implications of direct-to-consumer whole-exome sequencing in South Africa. S Afr Med J. 2016 Jan 12; 106(2):139-40.
    View in: PubMed
    Score: 0,013
  27. 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.
    View in: PubMed
    Score: 0,012
  28. Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD. Pediatr Nephrol. 2015 Feb; 30(2):273-9.
    View in: PubMed
    Score: 0,012
  29. Professor Trefor Jenkins: a tribute. S Afr Med J. 2013 Oct 16; 103(12 Suppl 1):956-1034.
    View in: PubMed
    Score: 0,011
  30. 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.
    View in: PubMed
    Score: 0,011
  31. 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.
    View in: PubMed
    Score: 0,011
  32. The hereditary adult-onset ataxias in South Africa. J Neurol Sci. 2003 Dec 15; 216(1):47-54.
    View in: PubMed
    Score: 0,006
  33. Huntington's disease confirmed by genetic testing in five African families. Mov Disord. 1998 Jul; 13(4):726-30.
    View in: PubMed
    Score: 0,004
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.