Search Results - "Kerr, Robyn"

Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues.

Authors: Kromberg, Jennifer G.R. Kerr, Robyn

Source: African Journal of Disability. 2022, Vol. 11, p1-7. 7p.

Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations.

Authors: Hayat, Mahtaab Kerr, Robyn Bentley, Amy R. et al.

Source: PLoS ONE. 2/21/2020, Vol. 15 Issue 2, p1-15. 15p.

Confirmation of Exome Sequencing Results Using Sanger Sequencing—Considerations in a Low‐Resource Setting.

Authors: Louw, Nadja Schnell, Samantha Molatoli, Mhlekazi et al.

Source: Molecular Genetics & Genomic Medicine. May2026, Vol. 14 Issue 5, p1-9. 9p.

Correction: Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations.

Authors: Hayat, Mahtaab Kerr, Robyn Bentley, Amy R. et al.

Source: PLoS ONE. 3/26/2021, Vol. 16 Issue 3, p1-1. 1p.

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

Authors: Seymour, Heather Feben, Candice Nevondwe, Patracia et al.

Source: Molecular Genetics & Genomic Medicine. Jan2024, Vol. 12 Issue 1, p1-6. 6p.

Genetic Associations of LDLR, APOB and LDLRAP1 Variants with LDL-cholesterol Levels Among Africans.

Authors: Smyth, Natalie A. Hayat, Mahtaab Kerr, Robyn et al.

Source: Atherosclerosis (Supplements). Jun2018, Vol. 32, p52-53. 2p.

Association of genetic variants in CHEK2 with oesophageal squamous cell carcinoma in the South African Black population.

Authors: Chen, Wenlong C Bye, Hannah Matejcic, Marco et al.

Source: Carcinogenesis. Apr2019, Vol. 40 Issue 4, p513-520. 8p.

A training program to extend the reach of the deciphering developmental disorders in Africa (DDD-Africa) study.

Authors: Charles A Lombard Z Carstens N et al.

Source: Frontiers in genetics [Front Genet] 2025 Oct 03; Vol. 16, pp. 1611047. Date of Electronic Publication: 2025 Oct 03 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

The impact of stigma on people with albinism in Africa: a narrative review.

Authors: Kromberg JG Kerr RA

Source: Journal of community genetics [J Community Genet] 2026 Mar 21; Vol. 17 (2). Date of Electronic Publication: 2026 Mar 21.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 101551501 Publication Model: Electronic Cited Medium: Print ISSN: 1868-310X (Print) Linking ISSN: 1868310X NLM ISO Abbreviation: J Community Genet Subsets: PubMed not MEDLINE

Albinism research in a Southern African setting: unique findings.

Authors: Kromberg JGR Kerr RA

Source: Journal of community genetics [J Community Genet] 2025 Apr; Vol. 16 (2), pp. 107-116. Date of Electronic Publication: 2025 Mar 26.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 101551501 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1868-310X (Print) Linking ISSN: 1868310X NLM ISO Abbreviation: J Community Genet Subsets: PubMed not MEDLINE

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

Authors: Mudau MM Seymour H Nevondwe P et al.

Source: Journal of community genetics [J Community Genet] 2024 Feb; Vol. 15 (1), pp. 39-48. Date of Electronic Publication: 2023 Oct 10.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 101551501 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1868-310X (Print) Linking ISSN: 1868310X NLM ISO Abbreviation: J Community Genet Subsets: PubMed not MEDLINE

Determining a Worldwide Prevalence of Oculocutaneous Albinism: A Systematic Review.

Authors: Kromberg JGR Flynn KA Kerr RA

Source: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2023 Jul 03; Vol. 64 (10), pp. 14.

Publication Type: Systematic Review; Journal Article

Journal Info: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

Fanconi anaemia in black South African patients heterozygous for the FANCG c.637-643delTACCGCC founder mutation.

Authors: Wainstein T Kerr R Mitchell CL et al.

Source: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde [S Afr Med J] 2013 Oct 11; Vol. 103 (12 Suppl 1), pp. 970-3. Date of Electronic Publication: 2013 Oct 11.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: South African Medical Association Country of Publication: South Africa NLM ID: 0404520 Publication Model: Electronic Cited Medium: Print ISSN: 0256-9574 (Print) NLM ISO Abbreviation: S Afr Med J Subsets: MEDLINE

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

Authors: Kerr R Robinson C Essop FB et al.

Source: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde [S Afr Med J] 2013 Oct 10; Vol. 103 (12 Suppl 1), pp. 999-1004. Date of Electronic Publication: 2013 Oct 10.

Publication Type: Journal Article

Journal Info: Publisher: South African Medical Association Country of Publication: South Africa NLM ID: 0404520 Publication Model: Electronic Cited Medium: Print ISSN: 0256-9574 (Print) NLM ISO Abbreviation: S Afr Med J Subsets: MEDLINE

Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa.

Authors: Manga P Kerr R Ramsay M et al.

Source: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde [S Afr Med J] 2013 Jul 29; Vol. 103 (12 Suppl 1), pp. 984-8. Date of Electronic Publication: 2013 Jul 29.

Publication Type: Journal Article

Journal Info: Publisher: South African Medical Association Country of Publication: South Africa NLM ID: 0404520 Publication Model: Electronic Cited Medium: Print ISSN: 0256-9574 (Print) NLM ISO Abbreviation: S Afr Med J Subsets: MEDLINE

The Integrity and Yield of Genomic DNA Isolated from Whole Blood Following Long-Term Storage at -30°C.

Authors: Chen WC Kerr R May A et al.

Source: Biopreservation and biobanking [Biopreserv Biobank] 2018 Apr; Vol. 16 (2), pp. 106-113. Date of Electronic Publication: 2018 Jan 03.

Publication Type: Journal Article

Journal Info: Publisher: Mary Ann Liebert Country of Publication: United States NLM ID: 101507284 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1947-5543 (Electronic) Linking ISSN: 19475543 NLM ISO Abbreviation: Biopreserv Biobank Subsets: MEDLINE