Amanda Krause
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View article: Expression of genetic peripheral neuropathies in South African Children
Expression of genetic peripheral neuropathies in South African Children Open
View article: A training program to extend the reach of the deciphering developmental disorders in Africa (DDD-Africa) study
A training program to extend the reach of the deciphering developmental disorders in Africa (DDD-Africa) study Open
Developmental disorders (DD), including intellectual disability (ID) and birth defects, affect approximately 7% of individuals worldwide, contributing to high mortality and lifelong morbidity. These disorders impose significant financial a…
View article: Breast cancer multigene germline panel testing in mainstream oncology based on clinical-public health utility (cancer mortality benefit): ESMO Precision Oncology Working Group recommendations
Breast cancer multigene germline panel testing in mainstream oncology based on clinical-public health utility (cancer mortality benefit): ESMO Precision Oncology Working Group recommendations Open
Background With widening therapeutic indications, germline genetic testing is offered to an increasing proportion of patients with breast cancer (BC) via mainstream oncology services. However, the gene set tested varies widely from just BR…
View article: Correction: STAC3 disorder: a common cause of congenital hypotonia in Southern African patients
Correction: STAC3 disorder: a common cause of congenital hypotonia in Southern African patients Open
View article: An assessment of the genomic structural variation landscape in Sub-Saharan African populations
An assessment of the genomic structural variation landscape in Sub-Saharan African populations Open
View article: STAC3 disorder: a common cause of congenital hypotonia in Southern African patients
STAC3 disorder: a common cause of congenital hypotonia in Southern African patients Open
View article: Atypical Presentations of Huntington Disease‐like 2 in South African Individuals
Atypical Presentations of Huntington Disease‐like 2 in South African Individuals Open
Background Huntington disease‐like 2 (HDL2) is a neurodegenerative disorder, affecting only individuals of African ancestry. Full penetrance occurs in individuals with 40 repeats or more. Objective To describe the phenotypic variability of…
View article: Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype
Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype Open
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with complete age-dependent penetrance, variable expressivity and a global prevalence of ∼1/3,000. It is characteriszed by numerous café-au-lait macules, skin freckl…
View article: The First Case of Huntington’s Disease like 2 in Mali, West Africa
The First Case of Huntington’s Disease like 2 in Mali, West Africa Open
We report here the first case of HDL2 in West Africa, suggesting that HDL2 is widely spread across African continent, and increasing access to genetic testing could uncover other cases.
View article: Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype
Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype Open
Background Cornelia de Lange Syndrome (CdLS) presents with a variable multi‐systemic phenotype and pathogenic variants have been identified in five main genes. This condition has been understudied in African populations with little phenoty…
View article: Research participants' perspectives regarding the feedback of secondary findings–A cohort from the <scp>DDD‐Africa</scp> study, South Africa
Research participants' perspectives regarding the feedback of secondary findings–A cohort from the <span>DDD‐Africa</span> study, South Africa Open
Genomic researchers face an ethical dilemma regarding feedback of individual results generated from genomic studies. In the African setting, genomic research is still not widely implemented and, coupled with this, the limited African‐speci…
View article: The implementation and utility of clinical exome sequencing in a South African infant cohort
The implementation and utility of clinical exome sequencing in a South African infant cohort Open
Genetic disorders are significant contributors to infant hospitalization and mortality globally. The early diagnosis of these conditions in infants remains a considerable challenge. Clinical exome sequencing (CES) has shown to be a success…
View article: A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments
A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments Open
Timely and accurate diagnosis of rare genetic disorders is critical, as it enables improved patient management and prognosis. In a resource-constrained environment such as the South African State healthcare system, the challenge is to desi…
View article: Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility
Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility Open
View article: Clinical characteristics and one-year all-cause mortality outcomes in Africans with dilated cardiomyopathy
Clinical characteristics and one-year all-cause mortality outcomes in Africans with dilated cardiomyopathy Open
Dilated cardiomyopathy in Africans primarily affects young males. In our cohort, this disease was associated with an all-cause mortality of 19% in one year. In SSA, large multicenter studies are required to investigate this disease's patho…
View article: Identifying the genetic causes of developmental disorders and intellectual disability in Africa: a systematic literature review
Identifying the genetic causes of developmental disorders and intellectual disability in Africa: a systematic literature review Open
Objective: Genetic variants cause a significant portion of developmental disorders and intellectual disabilities (DD/ID), but clinical and genetic heterogeneity makes identification challenging. Compounding the issue is a lack of ethnic di…
View article: Retrospective file review shows limited genetic services fail most patients – an argument for the implementation of exome sequencing as a first-tier test in resource-constrained settings
Retrospective file review shows limited genetic services fail most patients – an argument for the implementation of exome sequencing as a first-tier test in resource-constrained settings Open
Background Exome sequencing is recommended as a first-line investigation for patients with a developmental delay or intellectual disability. This approach has not been implemented in most resource-constraint settings, including Africa, due…
View article: The genetic basis for adult-onset idiopathic dilated cardiomyopathy in people of African descent
The genetic basis for adult-onset idiopathic dilated cardiomyopathy in people of African descent Open
View article: Additional file 2 of Retrospective file review shows limited genetic services fail most patients – an argument for the implementation of exome sequencing as a first-tier test in resource-constrained settings
Additional file 2 of Retrospective file review shows limited genetic services fail most patients – an argument for the implementation of exome sequencing as a first-tier test in resource-constrained settings Open
Additional file 2. This file contains all supplementary tables.
View article: Additional file 2 of 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
Additional file 2 of 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 Open
Additional file 2. This file contains all supplementary tables.
View article: Navigating the Triumphs and Tribulations of a University-Community Children’s Mental Health Partnership: Reflections on the First Year as Told by Graduate Students
Navigating the Triumphs and Tribulations of a University-Community Children’s Mental Health Partnership: Reflections on the First Year as Told by Graduate Students Open
This paper describes a newly established community-based participatory research partnership that brings together professionals from several disciplines to gain greater insight into the needs of children and the families of children seeking…
View article: Genetic services in a resource-constrained African setting – diagnostic odysseys, limited testing strategies and the need for exome sequencing
Genetic services in a resource-constrained African setting – diagnostic odysseys, limited testing strategies and the need for exome sequencing Open
Background: Exome sequencing is recommended as a first-line investigation for the diagnosis of developmental disorders (DD). It is uncertain if this recommendation can be translated to a low-resource setting, due to a dearth of research in…
View article: A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry
A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry Open
Huntington disease (HD)is a dominantly inherited neurodegenerative disorder caused by the expansion of a polyglutamine encoding CAG repeat in the huntingtin gene. Recently, it has been established that disease severity in HD is best predic…
View article: 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
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 Open
The rich and diverse genomics of African populations is significantly underrepresented in reference and in disease-associated databases. This renders interpreting the Next Generation Sequencing (NGS) data and reaching a diagnostic more dif…
View article: TBIO-01. Mutation Profiling of Paediatric Solid Tumours in a Cohort of South African Patients
TBIO-01. Mutation Profiling of Paediatric Solid Tumours in a Cohort of South African Patients Open
BACKGROUND: The incidence of childhood cancer incidence is increasing gradually in low-middle income countries, such as South Africa. Globally, there is an extensive range of familial- and hereditary-cancer syndromes, where underlying germ…
View article: Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels Open
View article: Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries
Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries Open
The Global Globin Network (GGN) is a project-wide initiative of the Human Variome/Global Variome Project (HVP) focusing on haemoglobinopathies to build the capacity for genomic diagnosis, clinical services, and research in low- and middle-…
View article: QF-PCR: a valuable first-line prenatal and postnatal test for common aneuploidies in South Africa
QF-PCR: a valuable first-line prenatal and postnatal test for common aneuploidies in South Africa Open
View article: Sensitization study of dogs with atopic dermatitis in the central region of Rio Grande do Sul
Sensitization study of dogs with atopic dermatitis in the central region of Rio Grande do Sul Open
Canine atopic dermatitis (CAD) is a common dermatosis, defined as a genetic-related disease which predisposes to skin inflammation and pruritus, associated to a IgE-specific response in most of cases. Clinical diagnosis may be later comple…
View article: A Feasible Molecular Diagnostic Strategy for Rare Genetic Disorders Within Resource- Constrained Environments
A Feasible Molecular Diagnostic Strategy for Rare Genetic Disorders Within Resource- Constrained Environments Open
Background The timeous and accurate diagnosis of rare genetic disorders is critical, as it enables a better understanding of patient management, prognosis and more personalized treatment. A confirmed genetic diagnosis also enables accurate…