Michele Ramsay

Michele Ramsay

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Michele Ramsay

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Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories.

Hum Genet 2019 Jul 16. Epub 2019 Jul 16.

Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1007/s00439-019-02045-1DOI Listing
July 2019

Correction to: Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories.

Hum Genet 2019 Jul 29. Epub 2019 Jul 29.

Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1007/s00439-019-02053-1DOI Listing
July 2019

Dysregulation of the Wnt signaling pathway in South African patients with diffuse systemic sclerosis.

Clin Rheumatol 2019 Mar 20;38(3):933-938. Epub 2018 Sep 20.

Division of Rheumatology, School of Clinical Medicine, University of the Witwatersrand, Johannesburg, 2001, South Africa.

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http://link.springer.com/10.1007/s10067-018-4298-5
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http://dx.doi.org/10.1007/s10067-018-4298-5DOI Listing
March 2019

HLA-DRB1 Amino Acid Positions and Residues Associated with Antibody-positive Rheumatoid Arthritis in Black South Africans.

J Rheumatol 2019 Feb 1;46(2):138-144. Epub 2018 Nov 1.

From the Division of Rheumatology, and Division of Human Genetics, Faculty of Health Sciences, and the Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa; Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, Alabama, USA; University of Cape Town, Cape Town, South Africa.

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http://www.jrheum.org/lookup/doi/10.3899/jrheum.180107
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http://dx.doi.org/10.3899/jrheum.180107DOI Listing
February 2019

Demographic, socio-economic and behavioural correlates of BMI in middle-aged black men and women from urban Johannesburg, South Africa.

Glob Health Action 2018 ;11(sup2):1448250

a MRC/Wits Developmental Pathways for Health Research Unit, Department of Paediatrics, Faculty of Health Sciences , University of the Witwatersrand , Johannesburg , South Africa.

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http://dx.doi.org/10.1080/16549716.2018.1448250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6084500PMC
November 2018

An upward trajectory of genomic publications from Africa: cautious optimism for a turning tide.

Authors:
Michèle Ramsay

Glob Health Epidemiol Genom 2018 8;3:e17. Epub 2018 Oct 8.

South African Research Chair in Genomics and Bioinformatics of African Populations and The Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, South Africa.

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http://dx.doi.org/10.1017/gheg.2018.14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199525PMC
October 2018

African genetic diversity provides novel insights into evolutionary history and local adaptations.

Hum Mol Genet 2018 08;27(R2):R209-R218

Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

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https://academic.oup.com/hmg/article/27/R2/R209/4993963
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http://dx.doi.org/10.1093/hmg/ddy161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061870PMC
August 2018

Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.

Annu Rev Genomics Hum Genet 2018 08;19:149-175

Division of Human Genetics, National Health Laboratory Service, and Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1146/annurev-genom-083117-021256DOI Listing
August 2018

Genetic variants in SEC16B are associated with body composition in black South Africans.

Nutr Diabetes 2018 07 19;8(1):43. Epub 2018 Jul 19.

Division of Human Genetics, School of Pathology, Faculty of Health Sciences, National Health Laboratory Service & University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1038/s41387-018-0050-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053407PMC
July 2018

Runs of homozygosity: windows into population history and trait architecture.

Nat Rev Genet 2018 04 15;19(4):220-234. Epub 2018 Jan 15.

Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.

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http://www.nature.com/doifinder/10.1038/nrg.2017.109
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http://dx.doi.org/10.1038/nrg.2017.109DOI Listing
April 2018

Population specific genetic heterogeneity of familial hypercholesterolemia in South Africa.

Curr Opin Lipidol 2018 04;29(2):72-79

Department of Medicine, Faculty of Health Sciences, University of Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1097/MOL.0000000000000488DOI Listing
April 2018

Different adiposity indices and their association with blood pressure and hypertension in middle-aged urban black South African men and women: findings from the AWI-GEN South African Soweto Site.

BMC Public Health 2018 04 19;18(1):524. Epub 2018 Apr 19.

MRC/Wits Developmental Pathways for Health Research Unit, Department of Paediatrics, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1186/s12889-018-5443-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5907712PMC
April 2018

H3Africa: current perspectives.

Pharmgenomics Pers Med 2018 10;11:59-66. Epub 2018 Apr 10.

Department of Psychiatry and Mental Health, University of Cape Town.

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http://dx.doi.org/10.2147/PGPM.S141546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903476PMC
April 2018

Patterns of adult body mass in sub-Saharan Africa.

Glob Health Action 2018 ;11(sup2):1556497

b STIAS Wallenberg Research Centre , Stellenbosch University , Stellenbosch , South Africa.

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http://dx.doi.org/10.1080/16549716.2018.1556497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407596PMC
January 2018

Insights into the genetics of blood pressure in black South African individuals: the Birth to Twenty cohort.

BMC Med Genomics 2018 01 17;11(1). Epub 2018 Jan 17.

School of Molecular & Cell Biology, Faculty of Science, University of the Witwatersrand, Johannesburg, South Africa.

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https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s1
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http://dx.doi.org/10.1186/s12920-018-0321-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773038PMC
January 2018

Assessing runs of Homozygosity: a comparison of SNP Array and whole genome sequence low coverage data.

BMC Genomics 2018 01 30;19(1):106. Epub 2018 Jan 30.

Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1186/s12864-018-4489-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5789638PMC
January 2018

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Authors:
Tin Aung Mineo Ozaki Mei Chin Lee Ursula Schlötzer-Schrehardt Gudmar Thorleifsson Takanori Mizoguchi Robert P Igo Aravind Haripriya Susan E Williams Yury S Astakhov Andrew C Orr Kathryn P Burdon Satoko Nakano Kazuhiko Mori Khaled Abu-Amero Michael Hauser Zheng Li Gopalakrishnan Prakadeeswari Jessica N Cooke Bailey Alina Popa Cherecheanu Jae H Kang Sarah Nelson Ken Hayashi Shin-Ichi Manabe Shigeyasu Kazama Tomasz Zarnowski Kenji Inoue Murat Irkec Miguel Coca-Prados Kazuhisa Sugiyama Irma Järvelä Patricio Schlottmann S Fabian Lerner Hasnaa Lamari Yildirim Nilgün Mukharram Bikbov Ki Ho Park Soon Cheol Cha Kenji Yamashiro Juan C Zenteno Jost B Jonas Rajesh S Kumar Shamira A Perera Anita S Y Chan Nino Kobakhidze Ronnie George Lingam Vijaya Tan Do Deepak P Edward Lourdes de Juan Marcos Mohammad Pakravan Sasan Moghimi Ryuichi Ideta Daniella Bach-Holm Per Kappelgaard Barbara Wirostko Samuel Thomas Daniel Gaston Karen Bedard Wenda L Greer Zhenglin Yang Xueyi Chen Lulin Huang Jinghong Sang Hongyan Jia Liyun Jia Chunyan Qiao Hui Zhang Xuyang Liu Bowen Zhao Ya-Xing Wang Liang Xu Stéphanie Leruez Pascal Reynier George Chichua Sergo Tabagari Steffen Uebe Matthias Zenkel Daniel Berner Georg Mossböck Nicole Weisschuh Ursula Hoja Ulrich-Christoph Welge-Luessen Christian Mardin Panayiota Founti Anthi Chatzikyriakidou Theofanis Pappas Eleftherios Anastasopoulos Alexandros Lambropoulos Arkasubhra Ghosh Rohit Shetty Natalia Porporato Vijayan Saravanan Rengaraj Venkatesh Chandrashekaran Shivkumar Narendran Kalpana Sripriya Sarangapani Mozhgan R Kanavi Afsaneh Naderi Beni Shahin Yazdani Alireza Lashay Homa Naderifar Nassim Khatibi Antonio Fea Carlo Lavia Laura Dallorto Teresa Rolle Paolo Frezzotti Daniela Paoli Erika Salvi Paolo Manunta Yosai Mori Kazunori Miyata Tomomi Higashide Etsuo Chihara Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Makoto Aihara Masaru Inatani Masahiro Miyake Norimoto Gotoh Fumihiko Matsuda Nagahisa Yoshimura Yoko Ikeda Morio Ueno Chie Sotozono Jin Wook Jeoung Min Sagong Kyu Hyung Park Jeeyun Ahn Marisa Cruz-Aguilar Sidi M Ezzouhairi Abderrahman Rafei Yaan Fun Chong Xiao Yu Ng Shuang Ru Goh Yueming Chen Victor H K Yong Muhammad Imran Khan Olusola O Olawoye Adeyinka O Ashaye Idakwo Ugbede Adeola Onakoya Nkiru Kizor-Akaraiwe Chaiwat Teekhasaenee Yanin Suwan Wasu Supakontanasan Suhanya Okeke Nkechi J Uche Ifeoma Asimadu Humaira Ayub Farah Akhtar Ewa Kosior-Jarecka Urszula Lukasik Ignacio Lischinsky Vania Castro Rodolfo Perez Grossmann Gordana Sunaric Megevand Sylvain Roy Edward Dervan Eoin Silke Aparna Rao Priti Sahay Pablo Fornero Osvaldo Cuello Delia Sivori Tamara Zompa Richard A Mills Emmanuelle Souzeau Paul Mitchell Jie Jin Wang Alex W Hewitt Michael Coote Jonathan G Crowston Sergei Y Astakhov Eugeny L Akopov Anton Emelyanov Vera Vysochinskaya Gyulli Kazakbaeva Rinat Fayzrakhmanov Saleh A Al-Obeidan Ohoud Owaidhah Leyla Ali Aljasim Balram Chowbay Jia Nee Foo Raphael Q Soh Kar Seng Sim Zhicheng Xie Augustine W O Cheong Shi Qi Mok Hui Meng Soo Xiao Yin Chen Su Qin Peh Khai Koon Heng Rahat Husain Su-Ling Ho Axel M Hillmer Ching-Yu Cheng Francisco A Escudero-Domínguez Rogelio González-Sarmiento Frederico Martinon-Torres Antonio Salas Kessara Pathanapitoon Linda Hansapinyo Boonsong Wanichwecharugruang Naris Kitnarong Anavaj Sakuntabhai Hip X Nguyn Giang T T Nguyn Trình V Nguyn Werner Zenz Alexander Binder Daniela S Klobassa Martin L Hibberd Sonia Davila Stefan Herms Markus M Nöthen Susanne Moebus Robyn M Rautenbach Ari Ziskind Trevor R Carmichael Michele Ramsay Lydia Álvarez Montserrat García Héctor González-Iglesias Pedro P Rodríguez-Calvo Luis Fernández-Vega Cueto Çilingir Oguz Nevbahar Tamcelik Eray Atalay Bilge Batu Dilek Aktas Burcu Kasım M Roy Wilson Anne L Coleman Yutao Liu Pratap Challa Leon Herndon Rachel W Kuchtey John Kuchtey Karen Curtin Craig J Chaya Alan Crandall Linda M Zangwill Tien Yin Wong Masakazu Nakano Shigeru Kinoshita Anneke I den Hollander Eija Vesti John H Fingert Richard K Lee Arthur J Sit Bradford J Shingleton Ningli Wang Daniele Cusi Raheel Qamar Peter Kraft Margaret A Pericak-Vance Soumya Raychaudhuri Steffen Heegaard Tero Kivelä André Reis Friedrich E Kruse Robert N Weinreb Louis R Pasquale Jonathan L Haines Unnur Thorsteinsdottir Fridbert Jonasson R Rand Allingham Dan Milea Robert Ritch Toshiaki Kubota Kei Tashiro Eranga N Vithana Shazia Micheal Fotis Topouzis Jamie E Craig Michael Dubina Periasamy Sundaresan Kari Stefansson Janey L Wiggs Francesca Pasutto Chiea Chuen Khor

Nat Genet 2017 07 29;49(7):993-1004. Epub 2017 May 29.

Singapore Eye Research Institute, Singapore.

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http://dx.doi.org/10.1038/ng.3875DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685441PMC
July 2017

Establishing an academic biobank in a resource-challenged environment.

S Afr Med J 2017 May 24;107(6):486-492. Epub 2017 May 24.

Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5954164PMC
http://dx.doi.org/10.7196/SAMJ.2017.v107i6.12099DOI Listing
May 2017

Population Stratification and Underrepresentation of Indian Subcontinent Genetic Diversity in the 1000 Genomes Project Dataset.

Genome Biol Evol 2016 12 31;8(11):3460-3470. Epub 2016 Dec 31.

Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

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http://dx.doi.org/10.1093/gbe/evw244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5203783PMC
December 2016

Epigenetics and the burden of noncommunicable disease: a paucity of research in Africa.

Epigenomics 2015 ;7(4):627-39

Division of Human Genetics, National Health Laboratory Service & School of Pathology, Faculty of Health Sciences & the Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.2217/epi.15.17DOI Listing
June 2016

African partnerships through the H3Africa Consortium bring a genomic dimension to longitudinal population studies on the continent.

Int J Epidemiol 2016 04 10;45(2):305-8. Epub 2015 Dec 10.

INDEPTH Network, Kanda, Accra, Ghana and Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1093/ije/dyv187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841636PMC
April 2016

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

S Afr Med J 2016 Jan 12;106(2):139-40. Epub 2016 Jan 12.

Southern African Society for Human Genetics, Johannesburg, South Africa; Division of Human Genetics, School of Pathology, Faculty of Health Sciences, National Health Laboratory Service, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.7196/SAMJ.2016.v106i2.10534DOI Listing
January 2016

APOL1 Risk Variants Are Strongly Associated with HIV-Associated Nephropathy in Black South Africans.

J Am Soc Nephrol 2015 Nov 18;26(11):2882-90. Epub 2015 Mar 18.

Department of Internal Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa; Division of Nephrology, University of the Witwatersrand, Johannesburg, South Africa

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http://dx.doi.org/10.1681/ASN.2014050469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4625661PMC
November 2015

Growing genomic research on the African continent: The H3Africa Consortium.

Authors:
Michèle Ramsay

S Afr Med J 2015 Nov 3;105(12):1016-7. Epub 2015 Nov 3.

Director, Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa; Professor of Human Genetics, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa; South African Research Chair in Genomics and Bioinformatics of African Populations; Member of the Steering Committee of the H3Africa Consortium.

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http://dx.doi.org/10.7196/SAMJ.2015.v105i12.10281DOI Listing
November 2015

Epigenetic epidemiology: is there cause for optimism?

Authors:
Michèle Ramsay

Epigenomics 2015 Aug 28;7(5):683-5. Epub 2015 Aug 28.

Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Room 109, The Mount, 9 Jubilee Road, Parktown, 2050, Gauteng, Johannesburg, South Africa.

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https://www.futuremedicine.com/doi/10.2217/epi.15.48
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http://dx.doi.org/10.2217/epi.15.48DOI Listing
August 2015

Understanding the rise in cardiovascular diseases in Africa: harmonising H3Africa genomic epidemiological teams and tools.

Cardiovasc J Afr 2014 May-Jun;25(3):134-6. Epub 2014 May 26.

Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.5830/CVJA-2014-030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4120122PMC
July 2015

African origins and chronic kidney disease susceptibility in the human immunodeficiency virus era.

World J Nephrol 2015 May;4(2):295-306

Alex N Kasembeli, Raquel Duarte, Saraladevi Naicker, Department of Internal Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2193, South Africa.

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http://dx.doi.org/10.5527/wjn.v4.i2.295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4419140PMC
May 2015

MYOC mutations in black south african patients with primary open-angle glaucoma: genetic testing and cascade screening.

Ophthalmic Genet 2015 Mar 20;36(1):31-8. Epub 2014 Oct 20.

Division of Ophthalmology, Department of Neurosciences, University of the Witwatersrand , Johannesburg , South Africa .

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http://dx.doi.org/10.3109/13816810.2014.972520DOI Listing
March 2015

The H3Africa policy framework: negotiating fairness in genomics.

Trends Genet 2015 Mar 15;31(3):117-9. Epub 2015 Jan 15.

Institute of Infectious Disease and Molecular Medicine, UCT Faculty of Health Sciences, Observatory 7925, South Africa.

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http://dx.doi.org/10.1016/j.tig.2014.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4471134PMC
March 2015

Reduced DNA methylation at the PEG3 DMR and KvDMR1 loci in children exposed to alcohol in utero: a South African Fetal Alcohol Syndrome cohort study.

Front Genet 2015 10;6:85. Epub 2015 Mar 10.

Division of Human Genetics, National Health Laboratory Service, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand , Johannesburg, South Africa ; Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand , Johannesburg, South Africa.

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http://dx.doi.org/10.3389/fgene.2015.00085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4354390PMC
March 2015

The genetics of POAG in black South Africans: a candidate gene association study.

Sci Rep 2015 Feb 11;5:8378. Epub 2015 Feb 11.

1] Division of Human Genetics, National Health Laboratory Service, School of Pathology, University of the Witwatersrand, Johannesburg, South Africa [2] Sydney Brenner Institute of Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1038/srep08378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4323640PMC
February 2015

Immunochip identifies novel, and replicates known, genetic risk loci for rheumatoid arthritis in black South Africans.

Mol Med 2014 Aug 14;20:341-9. Epub 2014 Aug 14.

Division of Rheumatology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.2119/molmed.2014.00097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4153842PMC
August 2014

Ethical issues in genomic research on the African continent: experiences and challenges to ethics review committees.

Hum Genomics 2014 Aug 21;8:15. Epub 2014 Aug 21.

International Network for the Demographic Evaluation of Populations and Their Health in Low- and Middle-Income Countries (INDEPTH), Accra, Ghana.

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http://dx.doi.org/10.1186/s40246-014-0015-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4420849PMC
August 2014

Research capacity. Enabling the genomic revolution in Africa.

Authors:
Charles Rotimi Akin Abayomi Alash'le Abimiku Victoria May Adabayeri Clement Adebamowo Ezekiel Adebiyi Adebowale D Ademola Adebowale Adeyemo Dwomoa Adu Dissou Affolabi Godfred Agongo Samuel Ajayi Sally Akarolo-Anthony Rufus Akinyemi Albert Akpalu Marianne Alberts Orlando Alonso Betancourt Ahmed Mansour Alzohairy Gobena Ameni Olukemi Amodu Gabriel Anabwani Kristian Andersen Fatiu Arogundade Oyedunni Arulogun Danny Asogun Rasheed Bakare Naby Balde Mary Lynn Baniecki Christine Beiswanger Alia Benkahla Lara Bethke Micheal Boehnke Vincent Boima James Brandful Andrew I Brooks Frank C Brosius Chester Brown Bruno Bucheton David T Burke Barrington G Burnett Stacy Carrington-Lawrence Nadia Carstens John Chisi Alan Christoffels Richard Cooper Heather Cordell Nigel Crowther Talishiea Croxton Jantina de Vries Leslie Derr Peter Donkor Seydou Doumbia Audrey Duncanson Ivy Ekem Ahmed El Sayed Mark E Engel John C K Enyaru Dean Everett Faisal M Fadlelmola Eyitayo Fakunle Kenneth H Fischbeck Anne Fischer Onikepe Folarin Junaid Gamieldien Robert F Garry Simani Gaseitsiwe Rasheed Gbadegesin Anita Ghansah Maria Giovanni Parham Goesbeck F Xavier Gomez-Olive Donald S Grant Ravnit Grewal Mark Guyer Neil A Hanchard Christian T Happi Scott Hazelhurst Branwen J Hennig Christiane Hertz- Fowler Winston Hide Friedhelm Hilderbrandt Christopher Hugo-Hamman Muntaser E Ibrahim Regina James Yasmina Jaufeerally-Fakim Carolyn Jenkins Ute Jentsch Pan-Pan Jiang Moses Joloba Victor Jongeneel Fourie Joubert Mukthar Kader Kathleen Kahn Pontiano Kaleebu Saidi H Kapiga Samar Kamal Kassim Ishmael Kasvosve Jonathan Kayondo Bernard Keavney Adeodata Kekitiinwa Sheik Humarr Khan Paul Kimmel Mary-Claire King Robert Kleta Mathurin Koffi Jeffrey Kopp Matthias Kretzler Judit Kumuthini Samuel Kyobe Catherine Kyobutungi Daniel T Lackland Karen A Lacourciere Guida Landouré Rita Lawlor Thomas Lehner Maia Lesosky Naomi Levitt Katherine Littler Zane Lombard Jeanne F Loring Sylvester Lyantagaye Annette Macleod Ebony B Madden Chengetai R Mahomva Julie Makani Manmak Mamven Marape Marape Graeme Mardon Patricia Marshall Darren P Martin Daniel Masiga Robin Mason Michael Mate-Kole Enock Matovu Mary Mayige Bongani M Mayosi Jean Claude Mbanya Sheryl A McCurdy Mark I McCarthy Helen McIlleron S O Mc'Ligeyo Corrine Merle Ana Olga Mocumbi Charles Mondo John V Moran Ayesha Motala Marva Moxey-Mims Wata Sununguko Mpoloka Chisomo L Msefula Thuli Mthiyane Nicola Mulder Gebregziab her Mulugeta Dieuodonne Mumba John Musuku Mo Nagdee Oyekanmi Nash Daouda Ndiaye Anh Quynh Nguyen Mark Nicol Oathokwa Nkomazana Shane Norris Betty Nsangi Alexander Nyarko Moffat Nyirenda Eileen Obe Reginald Obiakor Abraham Oduro Solomon F Ofori-Acquah Okechukwu Ogah Stephen Ogendo Kwaku Ohene-Frempong Akinlolu Ojo Timothy Olanrewaju John Oli Charlotte Osafo Odile Ouwe Missi Oukem-Boyer Bruce Ovbiagele Andrew Owen Mayowa Ojo Owolabi Lukman Owolabi Ellis Owusu-Dabo Guillaume Pare Rulan Parekh Hugh G Patterton Margaret B Penno Jane Peterson Rembert Pieper Jacob Plange-Rhule Martin Pollak Julia Puzak Rajkumar S Ramesar Michele Ramsay Rebekah Rasooly Shiksha Reddy Pardis C Sabeti Kwamena Sagoe Tunde Salako Oumar Samassékou Manjinder S Sandhu Osman Sankoh Fred Stephen Sarfo Marie Sarr Gasnat Shaboodien Issa Sidibe Gustave Simo Martin Simuunza Liam Smeeth Eugene Sobngwi Himla Soodyall Hermann Sorgho Oumou Sow Bah Sudha Srinivasan Dan J Stein Ezra S Susser Carmen Swanepoel Godfred Tangwa Andrew Tareila Ozlem Tastan Bishop Bamidele Tayo Nicki Tiffin Halidou Tinto Ekaete Tobin Stephen Meir Tollman Mahamadou Traoré Marsha J Treadwell Jennifer Troyer Masego Tsimako-Johnstone Vincent Tukei Ifeoma Ulasi Nzovu Ulenga Beverley van Rooyen Ablo Prudence Wachinou Salina P Waddy Alisha Wade Misaki Wayengera James Whitworth Louise Wideroff Cheryl A Winkler Sarah Winnicki Ambroise Wonkam Mengistu Yewondwos Tadase sen Nathan Yozwiak Heather Zar

Science 2014 Jun;344(6190):1346-8

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http://dx.doi.org/10.1126/science.1251546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4138491PMC
June 2014

In utero alcohol exposure, epigenetic changes, and their consequences.

Alcohol Res 2013 ;35(1):37-46

Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, National Health Laboratory, Service, Johannesburg, South Africa.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3860424PMC
January 2014

Genetic factors influencing bone mineral content in a black South African population.

J Bone Miner Metab 2013 Nov 9;31(6):708-16. Epub 2013 Mar 9.

Division of Human Genetics, School of Pathology, Faculty of Health Sciences, National Health Laboratory Service, University of the Witwatersrand, Watkins-Pitchford Building, Room 109, Cnr Hospital and De Korte Street, Braamfontein, 2000, Johannesburg, South Africa.

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http://dx.doi.org/10.1007/s00774-013-0431-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3825635PMC
November 2013

The elusive gene for keratolytic winter erythema.

S Afr Med J 2013 Oct 11;103(12 Suppl 1):961-5. Epub 2013 Oct 11.

Division of Dermatology, Department of Medicine, Royal University Hospital, University of Saskatchewan, Canada.

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http://dx.doi.org/10.7196/samj.7253DOI Listing
October 2013

Professor Trefor Jenkins: a tribute.

S Afr Med J 2013 Oct 16;103(12 Suppl 1):956-1034. Epub 2013 Oct 16.

Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, and National Health Laboratory Service, Johannesburg, South Africa.

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http://dx.doi.org/10.7196/samj.7627DOI Listing
October 2013

Genetic diversity in black South Africans from Soweto.

BMC Genomics 2013 Sep 23;14:644. Epub 2013 Sep 23.

Division of Human Genetics, School of Pathology, University of the Witwatersrand, Faculty of Health Sciences, Johannesburg, South Africa.

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http://dx.doi.org/10.1186/1471-2164-14-644DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850641PMC
September 2013

Direct-to-consumer genetic testing: to test or not to test, that is the question.

S Afr Med J 2013 Jul 4;103(8):510-2. Epub 2013 Jul 4.

Division of Human Genetics, University of Cape Town, South Africa.

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http://dx.doi.org/10.7196/samj.7049DOI Listing
July 2013

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

S Afr Med J 2013 Jul 29;103(12 Suppl 1):984-8. Epub 2013 Jul 29.

Ronald O Perelman Department of Dermatology and the Department of Cell Biology, New York University School of Medicine, New York, USA.

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http://www.samj.org.za/index.php/samj/article/view/7046
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http://dx.doi.org/10.7196/samj.7046DOI Listing
July 2013

The role of lysyl oxidase-like 1 DNA copy number variants in exfoliation glaucoma.

Mol Vis 2012 14;18:2976-81. Epub 2012 Dec 14.

Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3534139PMC
May 2013

The effect of preconception paternal alcohol exposure on epigenetic remodeling of the h19 and rasgrf1 imprinting control regions in mouse offspring.

Front Genet 2012 22;3:10. Epub 2012 Feb 22.

Molecular Genetics Laboratory, Division of Human Genetics, University of the Witwatersrand Johannesburg, South Africa.

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http://journal.frontiersin.org/article/10.3389/fgene.2012.00
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http://dx.doi.org/10.3389/fgene.2012.00010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3284254PMC
October 2012

No Evidence for a Parent-of-Origin Specific Differentially Methylated Region Linked to RASGRF1.

Front Genet 2012 28;3:41. Epub 2012 Mar 28.

Division of Human Genetics, School of Pathology, Faculty of Health Sciences, National Health Laboratory Service and University of the Witwatersrand Johannesburg, South Africa.

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http://journal.frontiersin.org/article/10.3389/fgene.2012.00
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http://dx.doi.org/10.3389/fgene.2012.00041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314240PMC
October 2012

Appetite regulation genes are associated with body mass index in black South African adolescents: a genetic association study.

BMJ Open 2012 21;2(3). Epub 2012 May 21.

Division of Human Genetics, School of Pathology, Faculty of Health Sciences, National Health Laboratory Service and University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1136/bmjopen-2012-000873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3358621PMC
October 2012

Africa: continent of genome contrasts with implications for biomedical research and health.

Authors:
Michèle Ramsay

FEBS Lett 2012 Aug 31;586(18):2813-9. Epub 2012 Jul 31.

Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences and the Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa.

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http://doi.wiley.com/10.1016/j.febslet.2012.07.061
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August 2012

Differential gene expression of MMP-1, TIMP-1 and HGF in clinically involved and uninvolved skin in South Africans with SSc.

Rheumatology (Oxford) 2012 Jun 27;51(6):1049-52. Epub 2012 Jan 27.

Division of Rheumatology, Faculty of Health Sciences, Chris Hani Baragwanath Academic Hospital, P.O. Bertsham 2013, South Africa.

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http://dx.doi.org/10.1093/rheumatology/ker367DOI Listing
June 2012

Exclusion of CTSB and FDFT1 as positional and functional candidate genes for keratolytic winter erythema (KWE).

J Dermatol Sci 2012 Jan 8;65(1):58-62. Epub 2011 Sep 8.

Division of Human Genetics, School of Pathology, National Health Laboratory Service and University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1016/j.jdermsci.2011.08.008DOI Listing
January 2012

Genetic variants in CYP (-1A2, -2C9, -2C19, -3A4 and -3A5), VKORC1 and ABCB1 genes in a black South African population: a window into diversity.

Pharmacogenomics 2011 Dec;12(12):1663-70

School of Molecular & Cell Biology, University of the Witwatersrand, Johannesburg, South Africa.

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https://www.futuremedicine.com/doi/10.2217/pgs.11.106
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December 2011

Africa: the next frontier for human disease gene discovery?

Hum Mol Genet 2011 Oct 9;20(R2):R214-20. Epub 2011 Sep 9.

Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand andNational Health Laboratory Service, Johannesburg, South Africa.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddr401DOI Listing
October 2011

A computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis.

Biol Direct 2011 Jun 13;6:30. Epub 2011 Jun 13.

Division of Human Genetics, School of Pathology, Faculty of Health Sciences, National Health Laboratory Service & University of the Witwatersrand, Johannesburg, 2000, South Africa.

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http://dx.doi.org/10.1186/1745-6150-6-30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3142252PMC
June 2011

Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.

Int J Pediatr Otorhinolaryngol 2011 May 9;75(5):611-7. Epub 2011 Mar 9.

Department of Speech Pathology and Audiology, University of Witwatersrand, Johannesburg, South Africa; Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of Witwatersrand, Johannesburg, South Africa; Department of Otorhinolaryngology, Polokwane/Mankweng Hospital Complex, Polokwane, Limpopo Province, South Africa.

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https://linkinghub.elsevier.com/retrieve/pii/S01655876110005
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http://dx.doi.org/10.1016/j.ijporl.2011.01.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303037PMC
May 2011

Genetic and epigenetic insights into fetal alcohol spectrum disorders.

Authors:
Michèle Ramsay

Genome Med 2010 Apr 28;2(4):27. Epub 2010 Apr 28.

Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, Johannesburg, 2000, South Africa.

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http://dx.doi.org/10.1186/gm148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873805PMC
April 2010

Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population.

Mol Vis 2010 Apr 21;16:705-12. Epub 2010 Apr 21.

Division of Ophthalmology, Department of Neurosciences, University of the Witwatersrand, Johannesburg, South Africa.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861124PMC
April 2010

Exposure of mouse embryos to ethanol during preimplantation development: effect on DNA methylation in the h19 imprinting control region.

Biol Reprod 2009 Oct 11;81(4):618-27. Epub 2009 Mar 11.

Division of Human Genetics, University of the Witwatersrand and National Health Laboratory Service, Johannesburg, South Africa.

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https://academic.oup.com/biolreprod/article-lookup/doi/10.10
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http://dx.doi.org/10.1095/biolreprod.108.074682DOI Listing
October 2009

Glucocerebrosidase gene mutations in black South Africans with Gaucher disease.

Blood Cells Mol Dis 2009 Jul-Aug;43(1):129-33. Epub 2009 Apr 25.

Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, Johannesburg, Johannesburg, South Africa.

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http://dx.doi.org/10.1016/j.bcmd.2009.02.008DOI Listing
September 2009

Effect of alcohol consumption on CpG methylation in the differentially methylated regions of H19 and IG-DMR in male gametes: implications for fetal alcohol spectrum disorders.

Alcohol Clin Exp Res 2009 Sep 10;33(9):1615-27. Epub 2009 Jun 10.

Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1111/j.1530-0277.2009.00993.xDOI Listing
September 2009

Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.

J Dermatol Sci 2009 Jun 31;54(3):198-204. Epub 2009 Mar 31.

Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.1016/j.jdermsci.2009.02.008DOI Listing
June 2009

Interleukin-1 receptor antagonist gene polymorphisms are associated with disease severity in Black South Africans with rheumatoid arthritis.

Joint Bone Spine 2008 Jul 12;75(4):422-5. Epub 2008 May 12.

Division of Human Genetics, National Health Laboratory Service, Cnr Hospital and de Korte streets, Braamfontein, PO Box 1038, Johannesburg 2000, South Africa.

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http://dx.doi.org/10.1016/j.jbspin.2007.09.015DOI Listing
July 2008

Computational selection and prioritization of candidate genes for fetal alcohol syndrome.

BMC Genomics 2007 Oct 25;8:389. Epub 2007 Oct 25.

Division of Human Genetics, National Health Laboratory Service & School of Pathology, University of the Witwatersrand, Johannesburg, 2001, South Africa.

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http://dx.doi.org/10.1186/1471-2164-8-389DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2194724PMC
October 2007

Does the sun play a role in the aetiology of malignant melanoma? A review.

S Afr Med J 2007 Aug;97(8):568-71

University of Witwatersrand.

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August 2007

Complete androgen insensitivity syndrome in a black South African family: a clinical and molecular investigation.

Endocr Pract 2006 Nov-Dec;12(6):664-9

Department of Internal Medicine, Chris Hani Baragwanath Hospital and University of the Witwatersrand, Johannesburg, South Africa.

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http://dx.doi.org/10.4158/EP.12.6.664DOI Listing
March 2007

Diagnosing cystic fibrosis in South Africa.

S Afr Med J 2006 Apr;96(4):304, 306

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April 2006

DNA polymorphism and selection at the melanocortin-1 receptor gene in normally pigmented southern African individuals.

Ann N Y Acad Sci 2003 Jun;994:299-306

Department of Human Genetics, School of Pathology, National Health Laboratory Service and University of the Witwatersrand, Johannesburg 2000, South Africa.

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http://dx.doi.org/10.1111/j.1749-6632.2003.tb03193.xDOI Listing
June 2003

Larger genetic differences within africans than between Africans and Eurasians.

Genetics 2002 May;161(1):269-74

Department of Ecology and Evolution, University of Chicago, Chicago, Illinois 60637, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1462113PMC
May 2002

Gene expression profiling to predict lymphoma outcome.

Authors:
Michele Ramsay

Trends Mol Med 2002 Apr;8(4):159

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April 2002

Four novel variants in MC1R in red-haired South African individuals of European descent: S83P, Y152X, A171D, P256S.

Hum Mutat 2002 Apr;19(4):461-2

Department of Human Genetics, School of Pathology, The South African Institute for Medical Research, South Africa.

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http://doi.wiley.com/10.1002/humu.9030
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April 2002