List of works - Karen Fieggen

A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome

scientific article

Aetiology of childhood hearing loss in Cameroon (sub-Saharan Africa).

scientific article published on 17 October 2012

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

scientific article published on 22 March 2011

Bardet Biedl syndrome in South Africa: A single founder mutation.

scientific article

Beyond the Caster Semenya controversy: the case of the use of genetics for gender testing in sport

scientific article published on 8 September 2010

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

scientific article published on 9 February 2017

Birth outcomes following antiretroviral exposure during pregnancy: Initial results from a pregnancy exposure registry in South Africa

scientific article published on 30 September 2019

Clinical phenotype of South African children with neurofibromatosis 1.

scientific article published in January 2006

Dental needs of intellectualy disabled children attending six special educational facilities in Cape Town.

scientific article published on 25 May 2016

Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.

scientific article published on 10 January 2018

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

scientific article published on 12 January 2016

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

scientific article published on February 2010

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

scientific article published on 14 May 2010

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

scientific article

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

scientific article

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

scientific article published on 22 June 2016

Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).

scientific article published on 5 November 2015

Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10.

scientific article published on 25 April 2017

Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome

scientific article published on 15 October 2013

The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa

scientific article published on 04 April 2017

The burden of sickle cell disease in Cape Town

scientific article published on 28 June 2012

Williams–Beuren syndrome in diverse populations

scientific article published in May 2018

List of works by Karen Fieggen

A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome

Aetiology of childhood hearing loss in Cameroon (sub-Saharan Africa).

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

Bardet Biedl syndrome in South Africa: A single founder mutation.

Beyond the Caster Semenya controversy: the case of the use of genetics for gender testing in sport

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

Birth outcomes following antiretroviral exposure during pregnancy: Initial results from a pregnancy exposure registry in South Africa

Clinical phenotype of South African children with neurofibromatosis 1.

Dental needs of intellectualy disabled children attending six special educational facilities in Cape Town.

Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.

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

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).

Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10.

Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome

The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa

The burden of sickle cell disease in Cape Town

Williams–Beuren syndrome in diverse populations