Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

Reconstructing Prehistoric African Population Structure.

Skoglund, Pontus; Thompson, Jessica C; Prendergast, Mary E; Mittnik, Alissa; Sirak, Kendra; Hajdinjak, Mateja; Salie, Tasneem; Rohland, Nadin; Mallick, Swapan; Peltzer, Alexander; Heinze, Anja; Olalde, Iñigo; Ferry, Matthew; Harney, Eadaoin; Michel, Megan; Stewardson, Kristin; Cerezo-Román, Jessica I; Chiumia, Chrissy; Crowther, Alison; Gomani-Chindebvu, Elizabeth; Gidna, Agness O; Grillo, Katherine M; Helenius, I Taneli; Hellenthal, Garrett; Helm, Richard; Horton, Mark; López, Saioa; Mabulla, Audax Z P; Parkington, John; Shipton, Ceri; Thomas, Mark G; Tibesasa, Ruth; Welling, Menno; Hayes, Vanessa M; Kennett, Douglas J; Ramesar, Raj; Meyer, Matthias; Pääbo, Svante; Patterson, Nick; Morris, Alan G; Boivin, Nicole; Pinhasi, Ron; Krause, Johannes; Reich, David.

Cell ; 171(1): 59-71.e21, 2017 Sep 21.

Artigo em Inglês | MEDLINE | ID: mdl-28938123

2.

Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa.

Atkinson, Elizabeth G; Dalvie, Shareefa; Pichkar, Yakov; Kalungi, Allan; Majara, Lerato; Stevenson, Anne; Abebe, Tamrat; Akena, Dickens; Alemayehu, Melkam; Ashaba, Fred K; Atwoli, Lukoye; Baker, Mark; Chibnik, Lori B; Creanza, Nicole; Daly, Mark J; Fekadu, Abebaw; Gelaye, Bizu; Gichuru, Stella; Injera, Wilfred E; James, Roxanne; Kariuki, Symon M; Kigen, Gabriel; Koen, Nastassja; Koenen, Karestan C; Koenig, Zan; Kwobah, Edith; Kyebuzibwa, Joseph; Musinguzi, Henry; Mwema, Rehema M; Neale, Benjamin M; Newman, Carter P; Newton, Charles R J C; Ongeri, Linnet; Ramachandran, Sohini; Ramesar, Raj; Shiferaw, Welelta; Stein, Dan J; Stroud, Rocky E; Teferra, Solomon; Yohannes, Mary T; Zingela, Zukiswa; Martin, Alicia R.

Am J Hum Genet ; 109(9): 1667-1679, 2022 09 01.

Artigo em Inglês | MEDLINE | ID: mdl-36055213

3.

From SNP to pathway-based GWAS meta-analysis: do current meta-analysis approaches resolve power and replication in genetic association studies?

Defo, Joel; Awany, Denis; Ramesar, Raj.

Brief Bioinform ; 24(1)2023 01 19.

Artigo em Inglês | MEDLINE | ID: mdl-36611240

4.

Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations.

Martin, Alicia R; Atkinson, Elizabeth G; Chapman, Sinéad B; Stevenson, Anne; Stroud, Rocky E; Abebe, Tamrat; Akena, Dickens; Alemayehu, Melkam; Ashaba, Fred K; Atwoli, Lukoye; Bowers, Tera; Chibnik, Lori B; Daly, Mark J; DeSmet, Timothy; Dodge, Sheila; Fekadu, Abebaw; Ferriera, Steven; Gelaye, Bizu; Gichuru, Stella; Injera, Wilfred E; James, Roxanne; Kariuki, Symon M; Kigen, Gabriel; Koenen, Karestan C; Kwobah, Edith; Kyebuzibwa, Joseph; Majara, Lerato; Musinguzi, Henry; Mwema, Rehema M; Neale, Benjamin M; Newman, Carter P; Newton, Charles R J C; Pickrell, Joseph K; Ramesar, Raj; Shiferaw, Welelta; Stein, Dan J; Teferra, Solomon; van der Merwe, Celia; Zingela, Zukiswa.

Am J Hum Genet ; 108(4): 656-668, 2021 04 01.

Artigo em Inglês | MEDLINE | ID: mdl-33770507

5.

Genome-wide association study in 404,302 individuals identifies 7 significant loci for reaction time variability.

Wootton, Olivia; Shadrin, Alexey A; Mohn, Christine; Susser, Ezra; Ramesar, Raj; Gur, Ruben C; Andreassen, Ole A; Stein, Dan J; Dalvie, Shareefa.

Mol Psychiatry ; 28(9): 4011-4019, 2023 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-37864076

6.

Clinical exome sequencing elucidates underlying cause of death in sudden unexpected death of infants: two case reports.

Heathfield, Laura Jane; Martin, Lorna Jean; van der Heyde, Yolande; Molefe, Itumeleng; Ramesar, Raj.

Int J Legal Med ; 138(2): 693-700, 2024 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-37482595

7.

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.

de Bruijn, Suzanne E; Fiorentino, Alessia; Ottaviani, Daniele; Fanucchi, Stephanie; Melo, Uirá S; Corral-Serrano, Julio C; Mulders, Timo; Georgiou, Michalis; Rivolta, Carlo; Pontikos, Nikolas; Arno, Gavin; Roberts, Lisa; Greenberg, Jacquie; Albert, Silvia; Gilissen, Christian; Aben, Marco; Rebello, George; Mead, Simon; Raymond, F Lucy; Corominas, Jordi; Smith, Claire E L; Kremer, Hannie; Downes, Susan; Black, Graeme C; Webster, Andrew R; Inglehearn, Chris F; van den Born, L Ingeborgh; Koenekoop, Robert K; Michaelides, Michel; Ramesar, Raj S; Hoyng, Carel B; Mundlos, Stefan; Mhlanga, Musa M; Cremers, Frans P M; Cheetham, Michael E; Roosing, Susanne; Hardcastle, Alison J.

Am J Hum Genet ; 107(5): 802-814, 2020 11 05.

Artigo em Inglês | MEDLINE | ID: mdl-33022222

8.

A comparative cost analysis of two screening strategies for colorectal cancer in Lynch Syndrome in a South African tertiary hospital.

Johnson, Yasmina; Goldberg, Paul; Moodley, Jennifer; Algar, Ursula; Thomson, Sandie; Sinanovic, Edina; Ramesar, Raj.

Cancer Causes Control ; 34(2): 161-169, 2023 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-36355273

9.

Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.

Esterhuizen, Alina I; Tiffin, Nicki; Riordan, Gillian; Wessels, Marie; Burman, Richard J; Aziz, Miriam C; Calhoun, Jeffrey D; Gunti, Jonathan; Amiri, Ezra E; Ramamurthy, Aishwarya; Bamshad, Michael J; Mefford, Heather C; Ramesar, Raj; Wilmshurst, Jo M; Carvill, Gemma L.

Genet Med ; 25(2): 100333, 2023 02.

Artigo em Inglês | MEDLINE | ID: mdl-36480001

10.

Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial.

Burn, John; Sheth, Harsh; Elliott, Faye; Reed, Lynn; Macrae, Finlay; Mecklin, Jukka-Pekka; Möslein, Gabriela; McRonald, Fiona E; Bertario, Lucio; Evans, D Gareth; Gerdes, Anne-Marie; Ho, Judy W C; Lindblom, Annika; Morrison, Patrick J; Rashbass, Jem; Ramesar, Raj; Seppälä, Toni; Thomas, Huw J W; Pylvänäinen, Kirsi; Borthwick, Gillian M; Mathers, John C; Bishop, D Timothy.

Lancet ; 395(10240): 1855-1863, 2020 06 13.

Artigo em Inglês | MEDLINE | ID: mdl-32534647

11.

Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B.

Roberts, Lisa; Julius, Stephanie; Dawlat, Shrinav; Yildiz, Safiye; Rebello, George; Meldau, Surita; Pillay, Komala; Esterhuizen, Alina; Vorster, Alvera; Benefeld, Gameda; da Rocha, Jorge; Beighton, Peter; Sellars, Sean L; Thandrayen, Kebashni; Pettifor, John M; Ramesar, Raj S.

Hum Mutat ; 41(11): 1871-1876, 2020 11.

Artigo em Inglês | MEDLINE | ID: mdl-32827185

12.

The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa.

Midgley, Nicole; Roberts, Lisa; Rebello, George; Ramesar, Raj.

Mol Vis ; 26: 613-622, 2020.

Artigo em Inglês | MEDLINE | ID: mdl-32913387

13.

Assessment of candidate variants causative of inborn metabolic diseases in SUDI cases in South Africa, and a case report.

Heathfield, Laura Jane; Bhengu, Wenelisile; Louw, Susan; Martin, Lorna Jean; Ramesar, Raj.

Int J Legal Med ; 134(5): 1639-1645, 2020 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-32556492

14.

Update on Inherited Retinal Disease in South Africa: Encouraging Diversity in Molecular Genetics.

Roberts, Lisa; Rebello, George; Greenberg, Jacquie; Ramesar, Raj.

Adv Exp Med Biol ; 1185: 257-261, 2019.

Artigo em Inglês | MEDLINE | ID: mdl-31884621

15.

Significant concordance of genetic variation that increases both the risk for obsessive-compulsive disorder and the volumes of the nucleus accumbens and putamen.

Hibar, Derrek P; Cheung, Joshua W; Medland, Sarah E; Mufford, Mary S; Jahanshad, Neda; Dalvie, Shareefa; Ramesar, Raj; Stewart, Evelyn; van den Heuvel, Odile A; Pauls, David L; Knowles, James A; Stein, Dan J; Thompson, Paul M.

Br J Psychiatry ; 213(1): 430-436, 2018 07.

Artigo em Inglês | MEDLINE | ID: mdl-29947313

16.

Correspondence on "Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database" by Dominguez-Valentin et al.

Chambuso, Ramadhani; Kaambo, Evelyn; Rebello, George; Ramesar, Raj.

Genet Med ; 24(5): 1148-1150, 2022 05.

Artigo em Inglês | MEDLINE | ID: mdl-35168886

17.

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

Pierrache, Laurence H M; Kimchi, Adva; Ratnapriya, Rinki; Roberts, Lisa; Astuti, Galuh D N; Obolensky, Alexey; Beryozkin, Avigail; Tjon-Fo-Sang, Martha J H; Schuil, Jose; Klaver, Caroline C W; Bongers, Ernie M H F; Haer-Wigman, Lonneke; Schalij, Nicoline; Breuning, Martijn H; Fischer, Gratia M; Banin, Eyal; Ramesar, Raj S; Swaroop, Anand; van den Born, L Ingeborgh; Sharon, Dror; Cremers, Frans P M.

Ophthalmology ; 124(7): 992-1003, 2017 07.

Artigo em Inglês | MEDLINE | ID: mdl-28412069

18.

Ethical considerations in forensic genetics research on tissue samples collected post-mortem in Cape Town, South Africa.

Heathfield, Laura J; Maistry, Sairita; Martin, Lorna J; Ramesar, Raj; de Vries, Jantina.

BMC Med Ethics ; 18(1): 66, 2017 Nov 29.

Artigo em Inglês | MEDLINE | ID: mdl-29187190

19.

Genetic variation within GRIN2B in adolescents with alcohol use disorder may be associated with larger left posterior cingulate cortex volume.

Dalvie, Shareefa; Brooks, Samantha J; Cardenas, Valerie; Fein, George; Ramesar, Raj; Stein, Dan J.

Acta Neuropsychiatr ; 29(4): 252-258, 2017 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-27498914

20.

Genomics: African dawn.

Ramesar, Raj.

Nature ; 517(7534): 276-7, 2015 Jan 15.

Artigo em Inglês | MEDLINE | ID: mdl-25470066

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