Careni E. Spencer
Cape Town, WC, South Africa
Last Updated: 09/26/2026
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Found 17 publications
Case Report: Filamin-C (FLNC) as a cause of disease in a large South African family diagnosed with restrictive cardiomyopathy.
Journal: Frontiers in medicine
Published: February 06, 2026
Population-based prevalence of congenital defects in a routine sentinel site-based surveillance system in the Western Cape, South Africa.
Journal: Birth defects research
Published: March 28, 2024
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Journal: American journal of human genetics
Published: December 19, 2023
A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency.
Journal: Molecular genetics and metabolism reports
Published: December 13, 2023
Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.
Journal: Molecular genetics & genomic medicine
Published: September 07, 2023
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
Journal: Orphanet journal of rare diseases
Published: July 07, 2023
Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis.
Journal: Frontiers in oral health
Published: March 17, 2023
A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments.
Journal: Journal of community genetics
Published: February 03, 2023
ABL1-related congenital heart defects and skeletal malformations syndrome in a patient from Sub-Saharan Africa: A case report highlighting novel cardiac features.
Journal: American journal of medical genetics. Part A
Published: November 12, 2022
Gordon syndrome: Dental implications and a case report.
Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
Published: March 06, 2021
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Journal: Annals of neurology
Published: December 13, 2019
A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males.
Journal: American journal of medical genetics. Part A
Published: September 11, 2017
Last Updated: 09/26/2026