Rajkumar Ramesar
University of Cape Town
178 Papers
1.7K Citations
Rajkumar Ramesar is an academic researcher from University of Cape Town. The author has contributed to research in topics: Medicine & Population. The author has an hindex of 43, co-authored 154 publications. Previous affiliations of Rajkumar Ramesar include Medical Research Council & Case Western Reserve University.
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Papers
LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
Yaoqin Gong,R. B. Slee,Naomi Fukai,Georges Rawadi,Sergio Roman-Roman,Anthony M. Reginato,H. W. Wang,Tim Cundy,Francis H. Glorieux,Dorit Lev,M. Zacharin,Konrad Oexle,Jose Marcelino,Wafaa M. Suwairi,Shauna Heeger,G. Sabatakos,Suneel S. Apte,W. N. Adkins,J. Allgrove,M. Arslan-Kirchner,J. A. Batch,Peter Beighton,Graeme C.M. Black,R. G. Boles,L. M. Boon,C. Borrone,Han G. Brunner,G. F. Carle,Bruno Dallapiccola,A. De Paepe,B. Floege,M. L. Halfhide,Barbara Hall,Raoul C.M. Hennekam,Tatsuo Hirose,A. Jans,Harald Jüppner,Chong Ae Kim,K. Keppler-Noreuil,A. Kohlschuetter,Didier Lacombe,M. Lambert,E. Lemyre,T. Letteboer,Leena Peltonen,Rajkumar Ramesar,M. Romanengo,H. Somer,E. Steichen-Gersdorf,Beat Steinmann,Beth A. Sullivan,Andrea Superti-Furga,W. Swoboda,M. J. van den Boogaard,W. Van Hul,Miikka Vikkula,Marcela Votruba,Bernhard Zabel,Teresa Garcia,Roland Baron,Bjorn R. Olsen,Matthew L. Warman +61 more
TL;DR: It is reported that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth and is important for the establishment of peak bone mass.
2.4K
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
Bryony A. Thompson,Bryony A. Thompson,Amanda B. Spurdle,John-Paul Plazzer,Marc S. Greenblatt,Kiwamu Akagi,Fahd Al-Mulla,Bharati Bapat,Inge Bernstein,Gabriel Capellá,Johan T. den Dunnen,Desirée du Sart,Aurelie Fabre,Michael Farrell,Susan M. Farrington,Ian M. Frayling,Thierry Frebourg,David E. Goldgar,David E. Goldgar,Christopher D. Heinen,Elke Holinski-Feder,Maija R.J. Kohonen-Corish,Maija R.J. Kohonen-Corish,Maija R.J. Kohonen-Corish,Kristina Lagerstedt Robinson,Suet Yi Leung,Alexandra Martins,Pål Møller,Monika Morak,Minna Nyström,Päivi Peltomäki,Marta Pineda,Ming Qi,Ming Qi,Rajkumar Ramesar,Lene Juel Rasmussen,Brigitte Royer-Pokora,Rodney J. Scott,Rodney J. Scott,Rolf H. Sijmons,Sean V. Tavtigian,Carli M. J. Tops,Thomas P. Weber,Juul T. Wijnen,Michael O. Woods,Finlay A. Macrae,Maurizio Genuardi +46 more
TL;DR: This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases.
Research capacity. Enabling the genomic revolution in Africa
Charles N. Rotimi,Akin Abayomi,Alash'le Abimiku,Victoria Adabayeri,Clement Adebamowo,Ezekiel Adebiyi,Adebowale D. Ademola,Adebowale Adeyemo,Dwomoa Adu,Dissou Affolabi,Godfred Agongo,Samuel Ajayi,Sally N Akarolo-Anthony,Rufus Akinyemi,Albert Akpalu,Marianne Alberts,Orlando Alonso Betancourt,Ahmed M. Alzohairy,Gobena Ameni,Olukemi K. Amodu,Gabriel Anabwani,Kristian G. Andersen,Fatiu A Arogundade,Oyedunni Arulogun,Danny Asogun,Rasheed Bakare,Naby Balde,Mary Lynn Baniecki,Christine Beiswanger,Alia Benkahla,Lara Bethke,M Boehnke,Vincent Boima,James Brandful,Andrew Brooks,Frank C. Brosius,Chester W. Brown,Bruno Bucheton,David T. Burke,Barrington G. Burnett,Stacy Carrington-Lawrence,Nadia Carstens,John Chisi,Alan Christoffels,Richard S. Cooper,Heather J. Cordell,Nigel J. Crowther,Talishiea Croxton,Jantina de Vries,Leslie Derr,Peter Donkor,Seydou Doumbia,Audrey Duncanson,Ivy Ekem,Ahmed El Sayed,Mark E Engel,John Enyaru,Dean Everett,Faisal M. Fadlelmola,Eyitayo Fakunle,Kenneth H. Fischbeck,Anne Fischer,Onikepe A. Folarin,Junaid Gamieldien,Robert F. Garry,Simani Gaseitsiwe,Rasheed Gbadegesin,Anita Ghansah,Maria Y. Giovanni,Parham Goesbeck,F. Xavier Gómez-Olivé,Donald S. Grant,Ravnit Grewal,Mark S. 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 Kapiga,Samar K. Kassim,Ishmael Kasvosve,Jonathan K. Kayondo,Bernard Keavney,Adeodata Kekitiinwa,Sheik Humarr Khan,Paul L. Kimmel,Mary Claire King,Robert Kleta,Mathurin Koffi,Jeffrey B. Kopp,Matthias Kretzler,Judit Kumuthini,Samuel Kyobe,Catherine Kyobutungi,Daniel T. Lackland,Karen A. Lacourciere,Guida Landouré,Rita T. Lawlor,Thomas Lehner,Maia Lesosky,Naomi S. Levitt,Katherine Littler,Zané Lombard,Jeanne F. Loring,Sylvester Leonard Lyantagaye,Annette MacLeod,Ebony B. Madden,Chengetai R. Mahomva.,Julie Makani,Manmak Mamven,Marape Marape,Graeme Mardon,Patricia A. Marshall,Darren P. Martin,Daniel K. Masiga,Robin Mason,Michael Mate-Kole,Enock Matovu,Mary T Mayige,Mary T Mayige,Bongani M. Mayosi,Jean Claude Mbanya,Sheryl A. McCurdy,Mark I. McCarthy,Helen McIlleron,Seth O. McLigeyo,Corrine Merle,Ana Olga Mocumbi,Charles Mondo,John V. Moran,Ayesha A. Motala,Marva Moxey-Mims,Sununguko Wata Mpoloka,Chisomo L. Msefula,Thuli Mthiyane,Nicola Mulder,Gebregziabher Mulugeta,Dieuodonne Mumba,John Musuku,Mo Nagdee,Oyekanmi Nash,Daouda Ndiaye,Anh Quynh Nguyen,Mark P. Nicol,Oathokwa Nkomazana,Shane A. Norris,Betty Nsangi,Alexander K. Nyarko,Moffat Nyirenda,Eileen Obe,Reginald Obiakor,Abraham Oduro,Solomon F. Ofori-Acquah,Okechukwu S Ogah,S.W.O. Ogendo,Kwaku Ohene-Frempong,Akinlolu O. Ojo,T O Olanrewaju,John Oli,Charlotte Osafo,Odile Ouwe Missi Oukem-Boyer,Bruce Ovbiagele,Andrew Owen,Mayowa O. Owolabi,Lukman Owolabi,Ellis Owusu-Dabo,Guillaume Paré,Rulan S. Parekh,Hugh-G. Patterton,Margaret B. Penno.,Jane Peterson,Rembert Pieper,Jacob Plange-Rhule,Martin R. Pollak,Julia Puzak,Rajkumar Ramesar,Michèle Ramsay,Rebekah S. Rasooly,Shiksha Reddy,Pardis C. Sabeti,Kwamena W. Sagoe,Tunde Salako,Oumar Samassekou,Manjinder S. Sandhu,Manjinder S. Sandhu,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 Susser,Carmen Swanepoel,Godfred Tangwa,Andrew Tareila,Özlem Tastan Bishop,Bamidele O. Tayo,Nicki Tiffin,Halidou Tinto,Ekaete Tobin,Stephen Tollman,Mahamadou Traoré,Marsha Treadwell,Jennifer L. Troyer,Masego Tsimako-Johnstone,Vincent Tukei,Ifeoma Ulasi,Nzovu Ulenga,Beverley van Rooyen,Ablo Prudence Wachinou,Salina P. Waddy,Alisha N. Wade,Misaki Wayengera,James A. G. Whitworth,Louise Wideroff,Cheryl A. Winkler,Sarah Winnicki,Ambroise Wonkam,Mengistu Tadase Yewondwossen,Nathan L. Yozwiak,Heather J. Zar +245 more
TL;DR: If the dearth of genomics research involving Africans persists, the potential health and economic benefits emanating from genomic science may elude an entire continent.
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)
AB McKie,John C. McHale,T. Jeffrey Keen,Emma E. Tarttelin,Rene Goliath,Janneke J.C. van Lith-Verhoeven,Jacquie Greenberg,Rajkumar Ramesar,Carel B. Hoyng,Frans P.M. Cremers,David A. Mackey,Shomi S. Bhattacharya,Alan C. Bird,Alexander F. Markham,Chris F. Inglehearn +14 more
TL;DR: Seven different missense mutations in the splicing factor gene PRPC8 in adRP families offer compelling evidence for a novel pathway to retinal degeneration.
305
•Journal Article
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13
Yaoqin Gong,Miikka Vikkula,Laurence M. Boon,J Liu,Peter Beighton,Rajkumar Ramesar,L Peltonen,H. Somer,Tatsuo Hirose,Bruno Dallapiccola,A. De Paepe,W. Swoboda,B Zabel,Andrea Superti-Furga,Beat Steinmann,H G Brunner,A. Jans,R. G. Boles,W. N. Adkins,M. J. van den Boogaard,Bjorn R. Olsen,Matthew L. Warman +21 more
TL;DR: Clinical, biochemical, and microscopic analyses suggest that OPS may be a Disorder of matrix homeostasis rather than a disorder of matrix structure, and identification of the OPS gene and its protein product could provide insights regarding common osteoporotic conditions, such as postmenopausal and senile osteopOrosis.