Amanda Krause to Humans
This is a "connection" page, showing publications Amanda Krause has written about Humans.
Connection Strength
1,543
-
Comparative analysis of neurofilament light chain in Huntington's disease like 2 and Huntington's disease. J Huntingtons Dis. 2025 Feb; 14(1):103-108.
Score: 0,072
-
Huntington disease-like 2: insight into neurodegeneration from an African disease. Nat Rev Neurol. 2024 01; 20(1):36-49.
Score: 0,068
-
Endocrine profiling in patients with Fanconi anemia, homozygous for a FANCG founder mutation. Mol Genet Genomic Med. 2020 08; 8(8):e1351.
Score: 0,053
-
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.
Score: 0,052
-
The neuropsychological deficits and dissociations in Huntington Disease-Like 2: A series of case-control studies. Neuropsychologia. 2020 01; 136:107238.
Score: 0,051
-
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.
Score: 0,050
-
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.
Score: 0,050
-
The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome. Fam Cancer. 2018 10; 17(4):607-613.
Score: 0,047
-
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations. Annu Rev Genomics Hum Genet. 2018 08 31; 19:149-175.
Score: 0,047
-
Fanconi anaemia in South Africa: Past, present and future. S Afr Med J. 2018 Apr 25; 108(5):393-398.
Score: 0,046
-
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.
Score: 0,046
-
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.
Score: 0,045
-
Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia. Fam Cancer. 2017 07; 16(3):441-446.
Score: 0,043
-
A Systematic Review of the Huntington Disease-Like 2 Phenotype. J Huntingtons Dis. 2017; 6(1):37-46.
Score: 0,042
-
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.
Score: 0,038
-
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.
Score: 0,036
-
Genetic factors influencing inhibitor development in a cohort of South African haemophilia A patients. Haemophilia. 2014 Sep; 20(5):687-92.
Score: 0,035
-
Phenotypic consequences in black South African Fanconi anemia patients homozygous for a founder mutation. Genet Med. 2014 May; 16(5):400-6.
Score: 0,033
-
Human genetics in Johannesburg, South Africa: past, present and future. S Afr Med J. 2013 Oct 11; 103(12 Suppl 1):957-61.
Score: 0,033
-
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.
Score: 0,033
-
Testing for haemoglobinopathies in Johannesburg, South Africa: a 30-year review. S Afr Med J. 2013 Oct 11; 103(12 Suppl 1):989-93.
Score: 0,033
-
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.
Score: 0,033
-
Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa. S Afr Med J. 2013 Oct 10; 103(12 Suppl 1):999-1004.
Score: 0,033
-
Roles of genetic counselors in South Africa. J Genet Couns. 2013 Dec; 22(6):753-61.
Score: 0,033
-
Sirenomelia: four further cases with discussion of associated upper limb defects. Clin Dysmorphol. 2012 Jul; 21(3):124-130.
Score: 0,031
-
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.
Score: 0,029
-
Novel CYP2C9 and VKORC1 gene variants associated with warfarin dosage variability in the South African black population. Pharmacogenomics. 2011 Jul; 12(7):953-63.
Score: 0,028
-
Genetic testing for Huntington's disease in South Africa. S Afr Med J. 2008 Mar; 98(3):193-4.
Score: 0,023
-
The molecular basis of spinal muscular atrophy (SMA) in South African black patients. Neuromuscul Disord. 2007 Oct; 17(9-10):684-92.
Score: 0,022
-
Atypical Presentations of Huntington Disease-like 2 in South African Individuals. Mov Disord Clin Pract. 2024 Jul; 11(7):850-854.
Score: 0,017
-
The First Case of Huntington's Disease like 2 in Mali, West Africa. Tremor Other Hyperkinet Mov (N Y). 2024; 14:15.
Score: 0,017
-
Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype. Mol Genet Genomic Med. 2024 Jan; 12(1):e2342.
Score: 0,017
-
Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility. HGG Adv. 2024 Jan 11; 5(1):100244.
Score: 0,017
-
Clinical characteristics and one-year all-cause mortality outcomes in Africans with dilated cardiomyopathy. Int J Cardiol. 2023 09 15; 387:131142.
Score: 0,016
-
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.
Score: 0,016
-
The genetic basis for adult-onset idiopathic dilated cardiomyopathy in people of African descent. Heart Fail Rev. 2023 Jul; 28(4):879-892.
Score: 0,016
-
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.
Score: 0,015
-
Has translational genomics come of age in Africa? Hum Mol Genet. 2021 10 01; 30(20):R164-R173.
Score: 0,015
-
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.
Score: 0,013
-
Genetic Factors Influencing Warfarin Dose in Black-African Patients: A Systematic Review and Meta-Analysis. Clin Pharmacol Ther. 2020 06; 107(6):1420-1433.
Score: 0,013
-
The Neuropsychiatry of Huntington Disease-Like 2: A Comparison with Huntington's Disease. J Huntingtons Dis. 2020; 9(4):325-334.
Score: 0,013
-
A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease. Am J Hum Genet. 2019 12 05; 105(6):1112-1125.
Score: 0,013
-
Different molecular basis for spinal muscular atrophy in South African black patients. Am J Med Genet. 1999 Oct 29; 86(5):420-6.
Score: 0,013
-
Emerging differences between Huntington's disease-like 2 and Huntington's disease: A comparison using MRI brain volumetry. Neuroimage Clin. 2019; 21:101666.
Score: 0,012
-
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service. J Neuromuscul Dis. 2019; 6(2):241-258.
Score: 0,012
-
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.
Score: 0,011
-
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.
Score: 0,011
-
Feasibility of prenatal diagnosis and carrier detection in South African haemophilia A patients. Br J Haematol. 1997 Jun; 97(3):558-60.
Score: 0,011
-
The Frequency of Huntington Disease and Huntington Disease-Like 2 in the South African Population. Neuroepidemiology. 2016; 46(3):198-202.
Score: 0,010
-
Implications of direct-to-consumer whole-exome sequencing in South Africa. S Afr Med J. 2016 Jan 12; 106(2):139-40.
Score: 0,010
-
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.
Score: 0,009
-
Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD. Pediatr Nephrol. 2015 Feb; 30(2):273-9.
Score: 0,009
-
New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet. 2015 Jan; 23(1):92-102.
Score: 0,009
-
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.
Score: 0,008
-
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.
Score: 0,008
-
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.
Score: 0,007
-
A common Fanconi anemia mutation in black populations of sub-Saharan Africa. Blood. 2005 May 01; 105(9):3542-4.
Score: 0,005
-
Huntington's Disease-like 2 (HDL2) in North America and Japan. Ann Neurol. 2004 Nov; 56(5):670-4.
Score: 0,004
-
The hereditary adult-onset ataxias in South Africa. J Neurol Sci. 2003 Dec 15; 216(1):47-54.
Score: 0,004
-
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet. 2003 Feb; 72(2):478-87.
Score: 0,004
-
Huntington's disease confirmed by genetic testing in five African families. Mov Disord. 1998 Jul; 13(4):726-30.
Score: 0,003