Rajkumar Ramesar

Rajkumar Ramesar

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Rajkumar Ramesar

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56Publications

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Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community.

Hum Mol Genet 2019 04;28(7):1053-1063

Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

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https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg
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http://dx.doi.org/10.1093/hmg/ddy373DOI Listing
April 2019

Dravet syndrome in South African infants: Tools for an early diagnosis.

Seizure 2018 Nov 14;62:99-105. Epub 2018 Sep 14.

Paediatric Neurology and Neurophysiology, Red Cross Children's War Memorial Hospital, Cape Town, South Africa; School of Child and Adolescent Health, University of Cape Town, South Africa. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10591311183049
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http://dx.doi.org/10.1016/j.seizure.2018.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261486PMC
November 2018

Clinical Application of Epilepsy Genetics in Africa: Is Now the Time?

Front Neurol 2018 2;9:276. Epub 2018 May 2.

School of Child and Adolescent Health, University of Cape Town, Cape Town, South Africa.

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http://dx.doi.org/10.3389/fneur.2018.00276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5940732PMC
May 2018

DNA variants and organophosphate neurotoxicity among emerging farmers in the Western Cape of South Africa.

Am J Ind Med 2018 Jan 16;61(1):11-20. Epub 2017 Nov 16.

School of Public Health and Family Medicine, University of Cape Town, Centre for Environmental and Occupational Health Research (CEOHR), Cape Town, Western Cape, South Africa.

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http://dx.doi.org/10.1002/ajim.22790DOI Listing
January 2018

Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10.

S Afr Med J 2017 Apr 25;107(5):457-462. Epub 2017 Apr 25.

MRC Human Genetics Research Unit, Division of Human Genetics, Institute for Infectious Diseases and Molecular Medicine, Department of Pathology, Faculty of Health Sciences, University of Cape Town, South Africa.

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http://dx.doi.org/10.7196/SAMJ.2017.v107i5.9461DOI Listing
April 2017

Toward colorectal cancer control in Africa.

Int J Cancer 2016 Feb 5;138(4):1033-4. Epub 2015 Oct 5.

Department of Surgery, University of KwaZulu-Natal, KwaZulu-Natal, South Africa.

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http://doi.wiley.com/10.1002/ijc.29843
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http://dx.doi.org/10.1002/ijc.29843DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715543PMC
February 2016

Digitotalar dysmorphism: Molecular elucidation.

S Afr Med J 2016 Feb 2;106(3):253-5. Epub 2016 Feb 2.

MRC Human Genetics Research Unit, Division of Human Genetics, Institute for Infectious Diseases and Molecular Medicine, Department of Clinical Laboratory Sciences, Faculty of Health Sciences, University of Cape Town, South Africa.

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http://www.samj.org.za/index.php/samj/article/view/10134
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http://dx.doi.org/10.7196/SAMJ.2016.v106i3.10134DOI Listing
February 2016

Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.

S Afr Med J 2015 Sep 21;105(7):558-63. Epub 2015 Sep 21.

Yorkshire Regional Genetics Service and School of Medicine, University of Leeds, St James's University Hospital, Leeds, UK.

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http://dx.doi.org/10.7196/SAMJnew.7917DOI Listing
September 2015

A genomic portrait of haplotype diversity and signatures of selection in indigenous southern African populations.

PLoS Genet 2015 Mar 26;11(3):e1005052. Epub 2015 Mar 26.

MRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa.

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http://dx.doi.org/10.1371/journal.pgen.1005052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374865PMC
March 2015

Fertility and apparent genetic anticipation in Lynch syndrome.

Fam Cancer 2014 Sep;13(3):369-74

Deakin University Department of Surgery, Geelong Hospital, Ryrie Street, Geelong, VIC, 3227, Australia,

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http://dx.doi.org/10.1007/s10689-014-9714-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357528PMC
September 2014

Genetic variation in Otos is associated with cisplatin-induced ototoxicity.

Pharmacogenomics 2014 Sep;15(13):1667-76

MRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases & Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Anzio Road, Observatory, Cape Town, 7925, South Africa.

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http://dx.doi.org/10.2217/pgs.14.112DOI Listing
September 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

Stargardt disease: towards developing a model to predict phenotype.

Eur J Hum Genet 2013 Oct 22;21(10):1173-6. Epub 2013 May 22.

UCT/MRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, Faculty of Health Science, University of Cape Town, Cape Town, South Africa.

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http://dx.doi.org/10.1038/ejhg.2013.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778365PMC
October 2013

PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients.

BMC Med Genet 2012 Nov 22;13:112. Epub 2012 Nov 22.

Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Observatory, South Africa.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2350-13-112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3523080PMC
November 2012

Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.

Mol Vis 2012 1;18:280-9. Epub 2012 Feb 1.

MRC Human Genetics Research Unit, Division of Human Genetics, Department of Clinical Laboratory Sciences, Institute for Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3275638PMC
July 2012

Cell-specific differences in the processing of the R14W CAIV mutant associated with retinitis pigmentosa 17.

J Cell Biochem 2010 Oct;111(3):735-41

Division of Human Genetics, Department of Clinical and Laboratory Sciences, University of Cape Town, Cape Town, South Africa.

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http://dx.doi.org/10.1002/jcb.22759DOI Listing
October 2010

Computational analysis of candidate disease genes and variants for salt-sensitive hypertension in indigenous Southern Africans.

PLoS One 2010 Sep 27;5(9):e12989. Epub 2010 Sep 27.

Division of Nephrology and Hypertension, University of Cape Town/Groote Schuur Hospital, Cape Town, South Africa.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0012989PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946338PMC
September 2010

Planning the human variome project: the Spain report.

Authors:
Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida I Al Aqeel Jumana Y Al-Aama Fahd Al-Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Blöcker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon-Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun-Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T den Dunnen Carlos Díaz Steven Dobrowolski M Rosário N dos Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon-Su Lee Jong-Young Lee Vera L Gil-da-Silva-Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O'Leary Ana Maria Oller de Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar C Sue Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith María-Jesús Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman-Cullere Joji Utsunomiya Henk J van Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon-Hee Yim Hyang-Sook Yoo

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

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http://compbio.berkeley.edu/people/brenner/pubs/kaput-2009-h
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http://doi.wiley.com/10.1002/humu.20972
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http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009

Clinical utility of the ABCR400 microarray: basing a genetic service on a commercial gene chip.

Arch Ophthalmol 2009 Apr;127(4):549-54

University of Cape Town/Medical Research Council Human Genetics Unit, Division of Human Genetics, Department of Clinical Laboratory Sciences, University of Cape Town, Cape Town, South Africa.

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http://dx.doi.org/10.1001/archophthalmol.2009.47DOI Listing
April 2009

Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.

Mol Vis 2008 18;14:2357-66. Epub 2008 Dec 18.

Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, St James's University Hospital, Leeds, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2603472PMC
March 2009

Neuropsychological status of bipolar I disorder: impact of psychosis.

Br J Psychiatry 2009 Mar;194(3):243-51

Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa.

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http://dx.doi.org/10.1192/bjp.bp.108.052001DOI Listing
March 2009

Hypomanic, cyclothymic and hostile personality traits in bipolar spectrum illness: a family-based study.

J Psychiatr Res 2008 Sep 21;42(11):920-9. Epub 2007 Dec 21.

Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa.

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http://dx.doi.org/10.1016/j.jpsychires.2007.10.011DOI Listing
September 2008

Prioritization of candidate disease genes for metabolic syndrome by computational analysis of its defining phenotypes.

Physiol Genomics 2008 Sep 8;35(1):55-64. Epub 2008 Jul 8.

Division of Human Genetics, MRC Human Genetics Research Unit, Institute for Infectious Diseases and Molecular Medicine, Groote Schuur Hospital, University of Cape Town, Cape Town, South Africa.

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http://dx.doi.org/10.1152/physiolgenomics.90247.2008DOI Listing
September 2008

Dysthymic and anxiety-related personality traits in bipolar spectrum illness.

J Affect Disord 2008 Aug 14;109(3):305-11. Epub 2008 Jan 14.

Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, USA.

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http://dx.doi.org/10.1016/j.jad.2007.12.006DOI Listing
August 2008

Neuropsychological task performance in bipolar spectrum illness: genetics, alcohol abuse, medication and childhood trauma.

Bipolar Disord 2008 Jun;10(4):479-94

Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa.

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http://dx.doi.org/10.1111/j.1399-5618.2008.00591.xDOI Listing
June 2008

The relationship between childhood abuse and dissociation. Is it influenced by catechol-O-methyltransferase (COMT) activity?

Int J Neuropsychopharmacol 2008 Mar 3;11(2):149-61. Epub 2007 Jul 3.

MRC/UCT Human Genetics Research Unit, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa.

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http://dx.doi.org/10.1017/S1461145707007900DOI Listing
March 2008

A linkage and family-based association analysis of a potential neurocognitive endophenotype of bipolar disorder.

Neuromolecular Med 2007 ;9(2):101-16

Division of Human Genetics, Institute for Infectious Disease and Molecular Medicine, University of Cape Town, South Africa.

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http://dx.doi.org/10.1007/bf02685885DOI Listing
December 2007

Genotype and childhood sexual trauma moderate neurocognitive performance: a possible role for brain-derived neurotrophic factor and apolipoprotein E variants.

Biol Psychiatry 2007 Sep 8;62(5):391-9. Epub 2007 Jan 8.

MRC/UCT Human Genetics Research Unit, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa.

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http://linkinghub.elsevier.com/retrieve/pii/S000632230601322
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http://dx.doi.org/10.1016/j.biopsych.2006.10.017DOI Listing
September 2007

Neurocognitive function in an extended Afrikaner-ancestry family with affective illness.

J Psychiatry Neurosci 2007 Mar;32(2):116-20

Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1810583PMC
March 2007

GSTM1 and GSTT1 polymorphisms as modifiers of age at diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) in a homogeneous cohort of individuals carrying a single predisposing mutation.

Mutat Res 2006 Dec;602(1-2):175-81

MRC Research Unit for Human Genetics, Division of Human Genetics, Institute for Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town Medical School, Anzio Road, Observatory 7925, South Africa.

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http://dx.doi.org/10.1016/j.mrfmmm.2006.09.004DOI Listing
December 2006

Warriors versus worriers: the role of COMT gene variants.

CNS Spectr 2006 Oct;11(10):745-8

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

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http://dx.doi.org/10.1017/s1092852900014863DOI Listing
October 2006

Personality: is it a viable endophenotype for genetic studies of bipolar affective disorder?

Bipolar Disord 2006 Aug;8(4):322-37

MRC/UCT Human Genetics Research Unit, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa.

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http://dx.doi.org/10.1111/j.1399-5618.2006.00309.xDOI Listing
August 2006

Apolipoprotein E variants and cognition in healthy individuals: a critical opinion.

Brain Res Rev 2006 Jun 27;51(1):125-35. Epub 2005 Dec 27.

MRC/UCT Human Genetics Research Unit, University of Cape Town Medical School, Observatory 7925, South Africa.

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http://dx.doi.org/10.1016/j.brainresrev.2005.10.006DOI Listing
June 2006

Trends in suicidology: personality as an endophenotype for molecular genetic investigations.

PLoS Med 2006 May 9;3(5):e107. Epub 2006 May 9.

UCT/MRC Human Genetics Research Unit, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa.

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http://dx.doi.org/10.1371/journal.pmed.0030107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1457008PMC
May 2006

Novel variants in the hotspot region of RP1 in South African patients with retinitis pigmentosa.

Mol Vis 2006 Mar 15;12:177-83. Epub 2006 Mar 15.

Division of Human Genetics, Department of Clinical Laboratory Sciences, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

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March 2006

Neurocognitive function as an endophenotype for genetic studies of bipolar affective disorder.

Neuromolecular Med 2005 ;7(4):275-86

MRC/UCT Human Genetics Research Unit, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Werner Beit North, Level 3, Faculty of Health Sciences, University of Cape Town, Observatory 7925, South Africa.

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http://dx.doi.org/10.1385/NMM:7:4:275DOI Listing
February 2006

A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.

Am J Hum Genet 2005 Sep 22;77(3):484-90. Epub 2005 Jul 22.

The Wellcome Trust Centre for Cell-Matrix Research, The University of Manchester, Manchester, United Kingdom.

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http://dx.doi.org/10.1086/444401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1226213PMC
September 2005

Neuropsychological dysfunction in bipolar affective disorder: a critical opinion.

Bipolar Disord 2005 Jun;7(3):216-35

MRC/UCT Human Genetics Research Unit, University of Cape Town, Cape Town, South Africa.

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http://dx.doi.org/10.1111/j.1399-5618.2005.00203.xDOI Listing
June 2005

Dissociative identity disorder associated with mania and change in handedness.

Cogn Behav Neurol 2004 Dec;17(4):233-7

MRC/UCT Human Genetics Research Unit, University of Cape Town Medical School, Observatory, 7925, South Africa.

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December 2004

Genetic variants implicated in personality: a review of the more promising candidates.

Am J Med Genet B Neuropsychiatr Genet 2004 Nov;131B(1):20-32

MRC/UCT Human Genetics Research Unit, Divison of Human Genetics, University of Cape Town, Cape Town, South Africa.

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http://dx.doi.org/10.1002/ajmg.b.20155DOI Listing
November 2004

Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease.

Invest Ophthalmol Vis Sci 2004 Jun;45(6):1705-11

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

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http://dx.doi.org/10.1167/iovs.03-1167DOI Listing
June 2004

Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.

Proc Natl Acad Sci U S A 2004 Apr 16;101(17):6617-22. Epub 2004 Apr 16.

Medical Research Council Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Observatory, Cape Town 7925, South Africa.

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http://www.pnas.org/cgi/doi/10.1073/pnas.0401529101
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http://dx.doi.org/10.1073/pnas.0401529101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC404094PMC
April 2004

The hereditary adult-onset ataxias in South Africa.

J Neurol Sci 2003 Dec;216(1):47-54

Division of Neurology, Department of Medicine, Groote Schuur Hospital and University of Cape Town (UCT), Cape Town, South Africa.

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http://dx.doi.org/10.1016/s0022-510x(03)00209-0DOI Listing
December 2003