Spencer C - Search Results

1

Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.

Bisschoff M, Smuts I, Dercksen M, Schoonen M, Vorster BC, van der Watt G, Spencer C, Naidu K, Henning F, Meldau S, McFarland R, Taylor RW, Patel K, Fassad MR, Vandrovcova J; ICGNMD Consortium; Wanders RJA, van der Westhuizen FH. Bisschoff M, et al. Among authors: spencer c. Orphanet J Rare Dis. 2024 Jan 14;19(1):15. doi: 10.1186/s13023-023-03014-8. Orphanet J Rare Dis. 2024. PMID: 38221620 Free PMC article.

2

Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.

Seymour H, Feben C, Nevondwe P, Kerr R, Spencer C, Mudau M, Honey E, Lombard Z, Krause A, Carstens N. Seymour H, et al. Among authors: spencer c. Mol Genet Genomic Med. 2024 Jan;12(1):e2342. doi: 10.1002/mgg3.2342. Mol Genet Genomic Med. 2024. PMID: 38284454 Free PMC article.

3

A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency.

Meldau S, Ackermann S, Riordan G, van der Watt GF, Spencer C, Raga S, Khan K, Blackhurst DM, van der Westhuizen FH. Meldau S, et al. Among authors: spencer c. Mol Genet Metab Rep. 2024 Mar 29;39:101078. doi: 10.1016/j.ymgmr.2024.101078. eCollection 2024 Jun. Mol Genet Metab Rep. 2024. PMID: 38571879 Free PMC article.

4

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

Feben C, Spencer C, Lochan A, Laing N, Fieggen K, Honey E, Wainstein T, Krause A. Feben C, et al. Among authors: spencer c. Fam Cancer. 2017 Jul;16(3):441-446. doi: 10.1007/s10689-017-9968-y. Fam Cancer. 2017. PMID: 28185119

5

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

Spencer C, Fieggen K, Vorster A, Beighton P. Spencer C, et al. S Afr Med J. 2016 Feb 4;106(3):272-5. doi: 10.7196/SAMJ.2016.v106i3.9476. S Afr Med J. 2016. PMID: 26915941

6

Spencer C, Comitis G, Lawrenson J, Fieggen K. Spencer C, et al. Am J Med Genet A. 2023 Jun;191(6):1652-1655. doi: 10.1002/ajmg.a.63189. Epub 2023 Mar 22. Am J Med Genet A. 2023. PMID: 36949638

7

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

Lombard Z, Baine F, Krause A, Lochan A, Macualay S, Spencer C, Aldous C, De Vries J, Fieggen K, Henderson B, Hoal E, Kinnear C, Kinsley N, September A, Urban M, Soodyall H, Pepper M, Ramsay M. Lombard Z, et al. Among authors: spencer c. S Afr Med J. 2016 Jan 12;106(2):139-40. doi: 10.7196/SAMJ.2016.v106i2.10534. S Afr Med J. 2016. PMID: 26821891

8

Population-based prevalence of congenital defects in a routine sentinel site-based surveillance system in the Western Cape, South Africa.

Kalk E, Heekes A, Lavies D, Jacobs L, Spencer C, Boutall A, Osman A, Stewart C, Davies MA, van Niekerk A, Fieggen K, Boulle A, Mehta U. Kalk E, et al. Among authors: spencer c. Birth Defects Res. 2024 Aug;116(8):e2388. doi: 10.1002/bdr2.2388. Birth Defects Res. 2024. PMID: 39118354

9

Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis.

Spencer C, Makka A, Singh S, McGuire J, Washaya N, Hein G, Zampoli M, Fieggen K. Spencer C, et al. Front Oral Health. 2023 May 23;4:1188443. doi: 10.3389/froh.2023.1188443. eCollection 2023. Front Oral Health. 2023. PMID: 37288425 Free PMC article.

10

A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments.

Mudau MM, Seymour H, Nevondwe P, Kerr R, Spencer C, Feben C, Lombard Z, Honey E, Krause A, Carstens N. Mudau MM, et al. Among authors: spencer c. J Community Genet. 2024 Feb;15(1):39-48. doi: 10.1007/s12687-023-00674-8. Epub 2023 Oct 10. J Community Genet. 2024. PMID: 37815686 Free PMC article.

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