Amanda Krause

Amanda Krause

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Amanda Krause

Amanda Krause

Publications by authors named "Amanda Krause"

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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 26;36(9):1909-1916. Epub 2019 Jul 26.

Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1007/s10815-019-01537-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6730725PMC
September 2019

An unusual presentation of ACE inhibitor-induced visceral angioedema.

BMJ Case Rep 2019 Sep 18;12(9). Epub 2019 Sep 18.

Internal Medicine, McGaw Medical Center of Northwestern University, Chicago, Illinois, USA.

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http://dx.doi.org/10.1136/bcr-2019-230865DOI Listing
September 2019

Comparison of the Huntington's Disease like 2 and Huntington's Disease Clinical Phenotypes.

Mov Disord Clin Pract 2019 Apr 12;6(4):302-311. Epub 2019 Mar 12.

Division of Human Genetics National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand Johannesburg South Africa.

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http://dx.doi.org/10.1002/mdc3.12742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476590PMC
April 2019

Using Self-Determination Theory to Examine Musical Participation and Well-Being.

Front Psychol 2019 1;10:405. Epub 2019 Mar 1.

The Melbourne Conservatorium of Music, The University of Melbourne, Parkville, VIC, Australia.

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http://dx.doi.org/10.3389/fpsyg.2019.00405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407371PMC
March 2019

Emerging differences between Huntington's disease-like 2 and Huntington's disease: A comparison using MRI brain volumetry.

Neuroimage Clin 2019 7;21:101666. Epub 2019 Jan 7.

Departments of Psychiatry and Neurology, Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1016/j.nicl.2019.101666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350216PMC
January 2019

The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome.

Fam Cancer 2018 10;17(4):607-613

Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1007/s10689-018-0075-5DOI Listing
October 2018

Effective Educational Strategies to Promote Life-Long Musical Investment: Perceptions of Educators.

Front Psychol 2018 25;9:1977. Epub 2018 Oct 25.

The Melbourne Conservatorium of Music, The University of Melbourne, Parkville, VIC, Australia.

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http://dx.doi.org/10.3389/fpsyg.2018.01977DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6209638PMC
October 2018

Absence of Acanthocytosis in Huntington's Disease-like 2: A Prospective Comparison with Huntington's Disease.

Tremor Other Hyperkinet Mov (N Y) 2017 5;7:512. Epub 2017 Dec 5.

Division of Human Genetics, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.7916/D81J9PDXDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5721130PMC
September 2018

Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.

Annu Rev Genomics Hum Genet 2018 08;19:149-175

Division of Human Genetics, National Health Laboratory Service, and Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1146/annurev-genom-083117-021256DOI Listing
August 2018

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 21;390:200-204. Epub 2018 Apr 21.

Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, South Africa.

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http://dx.doi.org/10.1016/j.jns.2018.04.031DOI Listing
July 2018

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

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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http://dx.doi.org/10.1002/ajmg.a.38651DOI Listing
April 2018

A Systematic Review of the Huntington Disease-Like 2 Phenotype.

J Huntingtons Dis 2017 ;6(1):37-46

Division of Human Genetics, National Health Laboratory Service & School of Pathology, The University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.3233/JHD-160232DOI Listing
October 2017

Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia.

Fam Cancer 2017 07;16(3):441-446

Division of Human Genetics, National Health Laboratory Service & School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Cnr Hospital & De Korte Street, Braamfontein, Johannesburg, 2000, South Africa.

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http://dx.doi.org/10.1007/s10689-017-9968-yDOI Listing
July 2017

How do location and control over the music influence listeners' responses?

Scand J Psychol 2017 Apr;58(2):114-122

School of Psychology and Speech Pathology, Curtin University, Perth, Australia.

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http://dx.doi.org/10.1111/sjop.12352DOI Listing
April 2017

Understanding and Adopting Plant-Based Nutrition: A Survey of Medical Providers.

Am J Lifestyle Med 2019 May-Jun;13(3):312-318. Epub 2017 Apr 16.

Department of Medicine, Division of Cardiology, Rush University School of Medicine, Chicago, Illinois (AJK, KAW).

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http://dx.doi.org/10.1177/1559827617703592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506982PMC
April 2017

The Frequency of Huntington Disease and Huntington Disease-Like 2 in the South African Population.

Neuroepidemiology 2016 17;46(3):198-202. Epub 2016 Feb 17.

Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1159/000444020DOI Listing
December 2016

Thin-Film Transformation of NH PbI to CH NH PbI Perovskite: A Methylamine-Induced Conversion-Healing Process.

Angew Chem Int Ed Engl 2016 11 21;55(47):14723-14727. Epub 2016 Oct 21.

Qingdao Institute of Bioenergy and Bioprocess Technology, Chinese Academy of Sciences, Qingdao, 266101, P.R. China.

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http://dx.doi.org/10.1002/anie.201609529DOI Listing
November 2016

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. Epub 2016 Jun 16.

Division of Human Genetics School of Pathology Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa.

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http://dx.doi.org/10.1002/mdc3.12372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353414PMC
June 2016

Breast cancer in high-risk Afrikaner families: Is BRCA founder mutation testing sufficient?

S Afr Med J 2016 Feb 3;106(3):264-7. Epub 2016 Feb 3.

Division of Human Genetics, National Health Laboratory Service, Johannesburg, South Africa.

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http://dx.doi.org/10.7196/SAMJ.2016.v106i3.10285DOI Listing
February 2016

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 4;106(3):268-71. Epub 2016 Feb 4.

Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa; Current affiliation: Division of Health Sciences Education, Office of the Dean, Faculty of Health Sciences, University of the Free State, Bloemfontein, South Africa.

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http://dx.doi.org/10.7196/SAMJ.2016.v106i3.10162DOI Listing
February 2016

Transformative Evolution of Organolead Triiodide Perovskite Thin Films from Strong Room-Temperature Solid-Gas Interaction between HPbI3-CH3NH2 Precursor Pair.

J Am Chem Soc 2016 Jan 13;138(3):750-3. Epub 2016 Jan 13.

Qingdao Institute of Bioenergy and Bioprocess Technology, Chinese Academy of Sciences , Qingdao 266101, P.R. China.

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http://dx.doi.org/10.1021/jacs.5b11824DOI Listing
January 2016

Implications of direct-to-consumer whole-exome sequencing in South Africa.

S Afr Med J 2016 Jan 12;106(2):139-40. Epub 2016 Jan 12.

Southern African Society for Human Genetics, Johannesburg, South Africa; Division of Human Genetics, School of Pathology, Faculty of Health Sciences, National Health Laboratory Service, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.7196/SAMJ.2016.v106i2.10534DOI Listing
January 2016

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 2;24(6):978-86. Epub 2015 Apr 2.

Division of Molecular Medicine and Haematology, Hemophilia Comprehensive Care Centre, Faculty of Health Sciences, University of the Witwatersrand and Charlotte Maxeke Johannesburg Academic Hospital, Johannesburg, South Africa.

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http://dx.doi.org/10.1007/s10897-015-9834-8DOI Listing
December 2015

The 2015 Dietary Guidelines Advisory Committee Report Concerning Dietary Cholesterol.

Am J Cardiol 2015 Nov 14;116(9):1479-80. Epub 2015 Aug 14.

Gaples Institute for Integrative Cardiology, Deerfield, Illinois; Northwestern University Feinberg School of Medicine, Chicago, Illinois.

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http://dx.doi.org/10.1016/j.amjcard.2015.07.077DOI Listing
November 2015

Human Obesity Associated with an Intronic SNP in the Brain-Derived Neurotrophic Factor Locus.

Cell Rep 2015 Nov 29;13(6):1073-1080. Epub 2015 Oct 29.

Unit on Metabolism and Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD 20892, USA; Section on Growth and Obesity, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD 20892, USA; Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN 38163, USA; Children's Foundation Research Institute, Le Bonheur Children's Hospital, Memphis, TN 38103, USA. Electronic address:

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http://www.cell.com/cell-reports/pdf/S2211-1247(15)01107-9.p
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http://linkinghub.elsevier.com/retrieve/pii/S221112471501107
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http://dx.doi.org/10.1016/j.celrep.2015.09.065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4644471PMC
November 2015

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 16;168(7):573-85. Epub 2015 Jun 16.

Johns Hopkins University School of Medicine, Departments of Psychiatry and Neurology and Program in Cellular and Molecular Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.b.32332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4565761PMC
October 2015

Understanding the genetic diversity of South Africa's peoples.

Authors:
Amanda Krause

S Afr Med J 2015 Sep 21;105(7):544-5. Epub 2015 Sep 21.

Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.7196/SAMJnew.8041DOI Listing
September 2015

Hematological consequences of a FANCG founder mutation in Black South African patients with Fanconi anemia.

Blood Cells Mol Dis 2015 Mar 27;54(3):270-4. Epub 2014 Nov 27.

Division of Human Genetics, National Health Laboratory Service and School of Pathology, The University of the Witwatersrand, Johannesburg, South Africa.

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https://linkinghub.elsevier.com/retrieve/pii/S10799796140014
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http://dx.doi.org/10.1016/j.bcmd.2014.11.011DOI Listing
March 2015

Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD.

Pediatr Nephrol 2015 Feb 6;30(2):273-9. Epub 2014 Sep 6.

Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1007/s00467-014-2917-1DOI Listing
February 2015

Phenotypic consequences in black South African Fanconi anemia patients homozygous for a founder mutation.

Genet Med 2014 May 17;16(5):400-6. Epub 2013 Oct 17.

Division of Human Genetics, National Health Laboratory Service and School of Pathology, The University of the Witwatersrand, Johannesburg, South Africa.

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http://www.nature.com/articles/gim2013159
Publisher Site
http://dx.doi.org/10.1038/gim.2013.159DOI Listing
May 2014

Roles of genetic counselors in South Africa.

J Genet Couns 2013 Dec 31;22(6):753-61. Epub 2013 May 31.

Division of Human Genetics, School of Pathology, National Health Laboratory Service, University of the Witwatersrand, PO Box 1038, Johannesburg, South Africa,

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http://dx.doi.org/10.1007/s10897-013-9606-2DOI Listing
December 2013

Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes.

Eur J Hum Genet 2013 Oct 6;21(10):1120-7. Epub 2013 Mar 6.

1] Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa [2] Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1038/ejhg.2013.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778359PMC
October 2013

Human genetics in Johannesburg, South Africa: past, present and future.

S Afr Med J 2013 Oct 11;103(12 Suppl 1):957-61. Epub 2013 Oct 11.

Division of Human Genetics, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Service, Johannesburg, South Africa.

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http://dx.doi.org/10.7196/samj.7220DOI Listing
October 2013

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. Epub 2013 Oct 11.

Division of Human Genetics, School of Pathology, National Health Laboratory Service and Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.7196/samj.7215DOI Listing
October 2013

Testing for haemoglobinopathies in Johannesburg, South Africa: a 30-year review.

S Afr Med J 2013 Oct 11;103(12 Suppl 1):989-93. Epub 2013 Oct 11.

Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa; Division of Human Genetics, National Health Laboratory Service, Johannesburg, South Africa.

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http://dx.doi.org/10.7196/samj.7255DOI Listing
October 2013

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. Epub 2013 Oct 11.

Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa; Division of Human Genetics, National Health Laboratory Service, Johannesburg, South Africa.

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http://dx.doi.org/10.7196/samj.7144DOI Listing
October 2013

Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa.

S Afr Med J 2013 Oct 10;103(12 Suppl 1):999-1004. Epub 2013 Oct 10.

Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.7196/samj.7274DOI Listing
October 2013

Professor Trefor Jenkins: a tribute.

S Afr Med J 2013 Oct 16;103(12 Suppl 1):956-1034. Epub 2013 Oct 16.

Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, and National Health Laboratory Service, Johannesburg, South Africa.

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http://dx.doi.org/10.7196/samj.7627DOI Listing
October 2013

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. Epub 2013 Sep 17.

Division of Human Genetics, School of Pathology, University of the Witwatersrand and National Health Laboratory Service, Johannesburg, South Africa.

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http://dx.doi.org/10.7196/samj.7119DOI Listing
September 2013

Sirenomelia: four further cases with discussion of associated upper limb defects.

Clin Dysmorphol 2012 Jul;21(3):124-30

Division of Human Genetics, National Health Laboratory Service, and School of Pathology, University of the Witwatersrand, Johannesburg, South Africa.

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https://insights.ovid.com/crossref?an=00019605-201207000-000
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http://dx.doi.org/10.1097/MCD.0b013e328354e51bDOI Listing
July 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

The utilization and outcome of diagnostic, predictive, and prenatal genetic testing for huntington disease in johannesburg, South Africa.

Genet Test Mol Biomarkers 2012 Jan 12;16(1):58-62. Epub 2011 Aug 12.

Division of Human Genetics, School of Pathology, University of the Witwatersrand and the National Health Laboratory Services, Johannesburg, South Africa.

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http://dx.doi.org/10.1089/gtmb.2011.0007DOI Listing
January 2012

Novel CYP2C9 and VKORC1 gene variants associated with warfarin dosage variability in the South African black population.

Pharmacogenomics 2011 Jul 2;12(7):953-63. Epub 2011 Jun 2.

Division of Human Genetics, The National Health Laboratory Service & School of Pathology, The University of Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.2217/pgs.11.36DOI Listing
July 2011

Genetic testing for Huntington's disease in South Africa.

S Afr Med J 2008 Mar;98(3):193-4

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March 2008

The hereditary adult-onset ataxias in South Africa.

J Neurol Sci 2003 Dec;216(1):47-54

Division of Neurology, Department of Medicine, Groote Schuur Hospital and University of Cape Town (UCT), Cape Town, South Africa.

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http://dx.doi.org/10.1016/s0022-510x(03)00209-0DOI Listing
December 2003