The African Genome Variation Project shapes medical genetics in Africa
Gurdasani, Deepti, Carstensen, Tommy, Tekola-Ayele, Fasil, Pagani, Luca, Tachmazidou, Ioanna, Hatzikotoulas, Konstantinos, Karthikeyan, Savita, Iles, Louise, Pollard, Martin O, Choudhury, Ananyo, Ritchie, Graham R S, Xue, Yali, Asimit, Jennifer, Nsubuga, Rebecca N, Young, Elizabeth H, Pomilla, Cristina, Kivinen, Katja, Rockett, Kirk, Kamali, Anatoli, Doumatey, Ayo P, Asiki, Gershim, Seeley, Janet, Sisay-Joof, Fatoumatta, Jallow, Muminatou, Tollman, Stephen, Mekonnen, Ephrem, Ekong, Rosemary, Oljira, Tamiru, Bradman, Neil, Bojang, Kalifa, Ramsay, Michele, Adeyemo, Adebowale, Bekele, Endashaw, Motala, Ayesha, Norris, Shane A, Pirie, Fraser, Kaleebu, Pontiano, Kwiatkowski, Dominic, Tyler-Smith, Chris, Rotimi, Charles, Zeggini, Eleftheria, Sandhu, Manjinder S
Published in Nature (London) (15.01.2015)
Published in Nature (London) (15.01.2015)
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Tracing the Route of Modern Humans out of Africa by Using 225 Human Genome Sequences from Ethiopians and Egyptians
Pagani, Luca, Schiffels, Stephan, Gurdasani, Deepti, Danecek, Petr, Scally, Aylwyn, Chen, Yuan, Xue, Yali, Haber, Marc, Ekong, Rosemary, Oljira, Tamiru, Mekonnen, Ephrem, Luiselli, Donata, Bradman, Neil, Bekele, Endashaw, Zalloua, Pierre, Durbin, Richard, Kivisild, Toomas, Tyler-Smith, Chris
Published in American journal of human genetics (04.06.2015)
Published in American journal of human genetics (04.06.2015)
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Journal Article
Dynamic Molecular Combing: Stretching the Whole Human Genome for High-Resolution Studies
Michalet, Xavier, Ekong, Rosemary, Fougerousse, Françoise, Rousseaux, Sophie, Schurra, Catherine, Hornigold, Nick, van Slegtenhorst, Marjon, Wolfe, Jonathan, Povey, Sue, Beckmann, Jacques S., Bensimon, Aaron
Published in Science (American Association for the Advancement of Science) (05.09.1997)
Published in Science (American Association for the Advancement of Science) (05.09.1997)
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Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project
Cotton, Richard G H, Al Aqeel, Aida I, Al-Mulla, Fahd, Carrera, Paola, Claustres, Mireille, Ekong, Rosemary, Hyland, Valentine J, Macrae, Finlay A, Marafie, Makia J, Paalman, Mark H, Patrinos, George P, Qi, Ming, Ramesar, Rajkumar S, Scott, Rodney J, Sijmons, Rolf H, Sobrido, María-Jesús, Vihinen, Mauno
Published in Genetics in medicine (01.12.2009)
Published in Genetics in medicine (01.12.2009)
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Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex
Mozaffari, Melika, Hoogeveen-Westerveld, Marianne, Kwiatkowski, David, Sampson, Julian, Ekong, Rosemary, Povey, Sue, den Dunnen, Johan T, van den Ouweland, Ans, Halley, Dicky, Nellist, Mark
Published in BMC medical genetics (11.09.2009)
Published in BMC medical genetics (11.09.2009)
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Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants
Farach, Laura S., Northrup, Hope, Nellist, Mark, van Unen, Leontine, Hillman, Paul, Klonowska, Katarzyna, Ekong, Rosemary, Crino, Peter B., Au, Kit Sing
Published in Gene (15.08.2023)
Published in Gene (15.08.2023)
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eP120: Predicted frameshift variant in TSC2 associated with mild TSC phenotype and non-penetrance
Farach, Laura, Au, Kit-Sing, Nellist, Mark, Van Unen, Leontine, Klonowska, Katarzyna, Ekong, Rosemary, Crino, Peter, Northrup, Hope
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Journal Article
Genetic signatures reveal high-altitude adaptation in a set of ethiopian populations
Huerta-Sánchez, Emilia, Degiorgio, Michael, Pagani, Luca, Tarekegn, Ayele, Ekong, Rosemary, Antao, Tiago, Cardona, Alexia, Montgomery, Hugh E, Cavalleri, Gianpiero L, Robbins, Peter A, Weale, Michael E, Bradman, Neil, Bekele, Endashaw, Kivisild, Toomas, Tyler-Smith, Chris, Nielsen, Rasmus
Published in Molecular biology and evolution (01.08.2013)
Published in Molecular biology and evolution (01.08.2013)
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Journal Article
Ethiopian Genetic Diversity Reveals Linguistic Stratification and Complex Influences on the Ethiopian Gene Pool
Pagani, Luca, Kivisild, Toomas, Tarekegn, Ayele, Ekong, Rosemary, Plaster, Chris, Gallego Romero, Irene, Ayub, Qasim, Mehdi, S. Qasim, Thomas, Mark G., Luiselli, Donata, Bekele, Endashaw, Bradman, Neil, Balding, David J., Tyler-Smith, Chris
Published in American journal of human genetics (13.07.2012)
Published in American journal of human genetics (13.07.2012)
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Journal Article
Eugenics history: university geneticists respond
Pomiankowski, Andrew, Thomas, Mark G, Jones, Steve, Ekong, Rosemary, van Dorp, Lucy, Maniatis, Nikolas, Lane, Nick, Rutherford, Adam, Walker, Catherine, Swallow, Dallas
Published in Nature (London) (01.04.2020)
Published in Nature (London) (01.04.2020)
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Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings
Dufner Almeida, Luiz G., Nanhoe, Santoesha, Zonta, Andrea, Hosseinzadeh, Mitra, Kom‐Gortat, Regina, Elfferich, Peter, Schaaf, Gerben, Kenter, Annegien, Kümmel, Daniel, Migone, Nicola, Povey, Sue, Ekong, Rosemary, Nellist, Mark
Published in Human mutation (01.04.2020)
Published in Human mutation (01.04.2020)
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Journal Article
The genetic dissection of fetal haemoglobin persistence in sickle cell disease in Nigeria
Ojewunmi, Oyesola O, Adeyemo, Titilope A, Oyetunji, Ajoke I, Inyang, Bassey, Akinrindoye, Afolashade, Mkumbe, Baraka S, Gardner, Kate, Rooks, Helen, Brewin, John, Patel, Hamel, Lee, Sang Hyuck, Chung, Raymond, Rashkin, Sara, Kang, Guolian, Chianumba, Reuben, Sangeda, Raphael, Mwita, Liberata, Isa, Hezekiah, Agumadu, Uche-Nnebe, Ekong, Rosemary, Faruk, Jamilu A, Jamoh, Bello Y, Adebiyi, Niyi M, Umar, Ismail A, Hassan, Abdulaziz, Grace, Christopher, Goel, Anuj, Inusa, Baba P D, Falchi, Mario, Nkya, Siana, Makani, Julie, Ahmad, Hafsat R, Nnodu, Obiageli, Strouboulis, John, Menzel, Stephan
Published in Human molecular genetics (04.05.2024)
Published in Human molecular genetics (04.05.2024)
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Journal Article
Group-based pharmacogenetic prediction: is it feasible and do current NHS England ethnic classifications provide appropriate data?
Ingram, Catherine J E, Ekong, Rosemary, Ansari-Pour, Naser, Bradman, Neil, Swallow, Dallas M
Published in The pharmacogenomics journal (01.02.2021)
Published in The pharmacogenomics journal (01.02.2021)
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Journal Article
Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex
Hoogeveen-Westerveld, Marianne, Ekong, Rosemary, Povey, Sue, Mayer, Karin, Lannoy, Nathalie, Elmslie, Frances, Bebin, Martina, Dies, Kira, Thompson, Catherine, Sparagana, Steven P., Davies, Peter, van den Ouweland, Ans, Halley, Dicky, Nellist, Mark
Published in Human mutation (01.01.2013)
Published in Human mutation (01.01.2013)
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Journal Article
Genetic Modifiers of Sickle Cell Anemia in Patients from Nigeria: A Pilot Study
Nnodu, Obiageli, Isa, Hezekiah, Tanko, Yohanna, Otu, Theresa, Ekong, Jacqueline, Elmi, Zakaria, Rooks, Helen, Menzel, Stephan, Ekong, Rosemary
Published in Hemoglobin (02.11.2019)
Published in Hemoglobin (02.11.2019)
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Journal Article
Diversity of lactase persistence in African milk drinkers
Jones, Bryony Leigh, Oljira, Tamiru, Liebert, Anke, Zmarz, Pawel, Montalva, Nicolas, Tarekeyn, Ayele, Ekong, Rosemary, Thomas, Mark G., Bekele, Endashaw, Bradman, Neil, Swallow, Dallas M.
Published in Human genetics (01.08.2015)
Published in Human genetics (01.08.2015)
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Journal Article
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis
Ekong, Rosemary, Nellist, Mark, Hoogeveen-Westerveld, Marianne, Wentink, Marjolein, Panzer, Jessica, Sparagana, Steven, Emmett, Warren, Dawson, Natalie L., Malinge, Marie Claire, Nabbout, Rima, Carbonara, Caterina, Barberis, Marco, Padovan, Sergio, Futema, Marta, Plagnol, Vincent, Humphries, Steve E., Migone, Nicola, Povey, Sue
Published in Human mutation (01.04.2016)
Published in Human mutation (01.04.2016)
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Journal Article
Contrasting exome constancy and regulatory region variation in the gene encoding CYP3A4: an examination of the extent and potential implications
Creemer, Olivia J, Ansari-Pour, Naser, Ekong, Rosemary, Tarekegn, Ayele, Plaster, Christopher, Bains, Ripudaman K, Itan, Yuval, Bekele, Endashaw, Bradman, Neil
Published in Pharmacogenetics and genomics (01.06.2016)
Published in Pharmacogenetics and genomics (01.06.2016)
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