R
Rosemary Ekong
Researcher at University College London
Publications - 45
Citations - 5010
Rosemary Ekong is an academic researcher from University College London. The author has contributed to research in topics: Gene & TSC1. The author has an hindex of 24, co-authored 42 publications receiving 4741 citations. Previous affiliations of Rosemary Ekong include King's College London & University of London.
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Journal ArticleDOI
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
Marjon van Slegtenhorst,Ronald de Hoogt,C Hermans,Mark Nellist,Bart Janssen,Senno Verhoef,Dick Lindhout,Ans M.W. van den Ouweland,Dicky J. J. Halley,Janet M. Young,M. W. Burley,S. Jeremiah,Karen J. Woodward,Joseph Nahmias,Margaret Fox,Rosemary Ekong,John D. Osborne,Jonathan Wolfe,Sue Povey,Russell G. Snell,Jeremy Peter Cheadle,Alistair C. Jones,Maria Tachataki,David Ravine,Julian R. Sampson,Mary Pat Reeve,Paul G. Richardson,Friederike Wilmer,Cheryl Munro,Trevor Hawkins,T. Sepp,Johari Mohd Ali,Susannah Ward,Andrew Green,John R. Yates,J. Kwiatkowska,Elizabeth P. Henske,M. Priscilla Short,J Haines,Sergiusz Jozwiak,David J. Kwiatkowski +40 more
TL;DR: Thirty-two distinct mutations were identified in TSC1, 30 of which were truncating, and a single mutation was seen in six apparently unrelated patients, which suggests that hamartin acts as a tumor suppressor.
The UK10K project identifies rare variants in health and disease
Klaudia Walter,Josine L. Min,Jie Huang,Lucy Crooks,Yasin Memari,Shane A. McCarthy,John R. B. Perry,ChangJiang Xu,Marta Futema,Daniel Lawson,Valentina Iotchkova,Stephan Schiffels,Audrey E. Hendricks,Petr Danecek,Rui Li,James A B Floyd,Louise V. Wain,Inês Barroso,Steve E. Humphries,Matthew E. Hurles,Eleftheria Zeggini,Jeffrey C. Barrett,Vincent Plagnol,J. Brent Richards,Celia M. T. Greenwood,Nicholas J. Timpson,Richard Durbin,Nicole Soranzo,Senduran Bala,Peter Clapham,Guy Coates,Tony Cox,Allan Daly,Yuanping Du,Sarah Edkins,Peter R. Ellis,Paul Flicek,Xiaosen Guo,Xueqin Guo,Liren Huang,David K. Jackson,Christopher J. Joyce,Thomas Keane,Anja Kolb-Kokocinski,Cordelia Langford,Yingrui Li,Jieqin Liang,Hong Lin,Ryan Liu,John Maslen,Dawn Muddyman,Michael A. Quail,Jim Stalker,Jianping Sun,Jing Tian,Guangbiao Wang,Jun Wang,Yu Wang,Kim Wong,Pingbo Zhang,Ewan Birney,Chris Boustred,Lu Chen,Gail Clement,Massimiliano Cocca,George Davey Smith,Ian N.M. Day,Aaron G. Day-Williams,Thomas A. Down,Ian Dunham,David M. Evans,Tom R. Gaunt,Matthias Geihs,Deborah J. Hart,Bryan Howie,Tim Hubbard,Pirro G. Hysi,Yalda Jamshidi,Konrad J. Karczewski,John P. Kemp,Genevieve Lachance,Monkol Lek,Margarida C. Lopes,Daniel G. MacArthur,Jonathan Marchini,Massimo Mangino,Iain Mathieson,Sarah Metrustry,Alireza Moayyeri,Kate Northstone,Kalliope Panoutsopoulou,Lavinia Paternoster,Lydia Quaye,Susan M. Ring,Graham R. S. Ritchie,Hashem A. Shihab,So-Youn Shin,Kerrin S. Small,María Soler Artigas,Lorraine Southam,Tim D. Spector,Beate St Pourcain,Gabriela L. Surdulescu,Ioanna Tachmazidou,Martin D. Tobin,Ana M. Valdes,Peter M. Visscher,Kirsten J. Ward,Scott Wilson,Jian Yang,Feng Zhang,Hou-Feng Zheng,Richard Anney,Muhammad Ayub,Douglas Blackwood,Patrick Bolton,Gerome Breen,David A. Collier,Nicholas John Craddock,Sarah Curran,David Curtis,Louise Gallagher,Daniel H. Geschwind,Hugh Gurling,Peter Holmans,Irene Lee,Jouko Lönnqvist,Peter McGuffin,Andrew M. McIntosh,Andrew McKechanie,Andrew McQuillin,James Morris,Michael Conlon O'Donovan,Michael John Owen,Aarno Palotie,Jeremy R. Parr,Tiina Paunio,Olli Pietiläinen,Karola Rehnström,Sally I. Sharp,David Skuse,David St Clair,Jaana Suvisaari,James T.R. Walters,Hywel Williams,Elena G. Bochukova,Rebecca Bounds,Anna F. Dominiczak,I. Sadaf Farooqi,Julia M. Keogh,Gaëlle Marenne,Andrew D. Morris,Stephen O'Rahilly,David J. Porteous,Blair H. Smith,Eleanor Wheeler,Saeed Al Turki,Carl A. Anderson,Dinu Antony,PL Beales,Jamie Bentham,Shoumo Bhattacharya,Mattia Calissano,Keren J. Carss,Krishna Chatterjee,Sebahattin Cirak,Catherine Cosgrove,David R. FitzPatrick,A. Reghan Foley,Christopher S. Franklin,Detelina Grozeva,Hannah M. Mitchison,Francesco Muntoni,Alexandros Onoufriadis,Victoria E. R. Parker,Felicity Payne,F. Lucy Raymond,Nicola D. Roberts,David B. Savage,Peter J. Scambler,Miriam Schmidts,Nadia Schoenmakers,Robert K. Semple,Eva Goncalves Serra,Olivera Spasic-Boskovic,Elizabeth Stevens,Margriet van Kogelenberg,Parthiban Vijayarangakannan,Kathleen A. Williamson,Crispian Wilson,Tamieka Whyte,Antonio Ciampi,Karim Oualkacha,Martin Bobrow,Heather Griffin,Jane Kaye,Karen Kennedy,Alastair Kent,Carol Smee,R. Charlton,Rosemary Ekong,Farrah Khawaja,Luis R. Lopes,Nicola Migone,Stewart J. Payne,Rebecca C. Pollitt,Sue Povey,Cheryl K. Ridout,Rachel L. Robinson,Richard H Scott,Adam Shaw,Petros Syrris,Rohan Taylor,Anthony M. Vandersteen,Antoinette Amuzu,Juan P. Casas,John C. Chambers,George Dedoussis,Giovanni Gambaro,Paolo Gasparini,Aaron Isaacs,Jon Johnson,Marcus E. Kleber,Jaspal S. Kooner,Claudia Langenberg,Jian'an Luan,Giovanni Malerba,Winfried Maerz,Angela Matchan,Richard W Morris,Børge G. Nordestgaard,Marianne Benn,Robert A. Scott,Daniela Toniolo,Michela Traglia,Anne Tybjærg-Hansen,Cornelia M. van Duijn,Elisabeth M. van Leeuwen,Anette Varbo,Peter H. Whincup,Gianluigi Zaza,Weihua Zhang +241 more
TL;DR: The contribution of rare and low-frequency variants to human traits is largely unexplored as mentioned in this paper, but the contribution of these variants to the human traits has not yet been fully explored.
Journal ArticleDOI
Dynamic Molecular Combing: Stretching the Whole Human Genome for High-Resolution Studies
Xavier Michalet,Rosemary Ekong,Françoise Fougerousse,Sophie Rousseaux,Catherine Schurra,Nick Hornigold,Marjon van Slegtenhorst,Jonathan Wolfe,Sue Povey,Jacques S. Beckmann,Aaron Bensimon +10 more
TL;DR: DNA in amounts representative of hundreds of eukaryotic genomes was extended on silanized surfaces by dynamic molecular combing and the precise measurement of hybridized DNA probes was achieved directly without requiring normalization, making it a powerful tool for a variety of genomic studies.
Journal ArticleDOI
The African Genome Variation Project shapes medical genetics in Africa
Deepti Gurdasani,Tommy Carstensen,Tommy Carstensen,Fasil Tekola-Ayele,Luca Pagani,Ioanna Tachmazidou,Konstantinos Hatzikotoulas,Savita Karthikeyan,Savita Karthikeyan,Louise Iles,Martin O. Pollard,Ananyo Choudhury,Graham R. S. Ritchie,Yali Xue,Jennifer L. Asimit,Rebecca N. Nsubuga,Elizabeth H. Young,Elizabeth H. Young,Cristina Pomilla,Cristina Pomilla,Katja Kivinen,K Rockett,Anatoli Kamali,Ayo P. Doumatey,Gershim Asiki,Janet Seeley,Fatoumatta Sisay-Joof,Muminatou Jallow,Stephen Tollman,Ephrem Mekonnen,Rosemary Ekong,Tamiru Oljira,Neil Bradman,Kalifa Bojang,Michèle Ramsay,Adebowale Adeyemo,Endashaw Bekele,Ayesha A. Motala,Shane A. Norris,Fraser J. Pirie,Pontiano Kaleebu,Dominic P. Kwiatkowski,Chris Tyler-Smith,Charles N. Rotimi,Eleftheria Zeggini,Manjinder S. Sandhu,Manjinder S. Sandhu +46 more
TL;DR: It is shown that modern imputation panels (sets of reference genotypes from which unobserved or missing genotypes in study sets can be inferred) can identify association signals at highly differentiated loci across populations in sub-Saharan Africa.
Journal ArticleDOI
Ethiopian Genetic Diversity Reveals Linguistic Stratification and Complex Influences on the Ethiopian Gene Pool
Luca Pagani,Luca Pagani,Toomas Kivisild,Ayele Tarekegn,Rosemary Ekong,Chris Plaster,Irene Gallego Romero,Qasim Ayub,S. Qasim Mehdi,Mark G. Thomas,Donata Luiselli,Endashaw Bekele,Neil Bradman,David J. Balding,Chris Tyler-Smith +14 more
TL;DR: The principal route for the expansion out of Africa ~60 kya remains unresolved, and linkage-disequilibrium decay with genomic distance was less rapid in both the whole genome and the African component than in southern African samples, suggesting a less ancient history for Ethiopian populations.