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The African Genome Variation Project shapes medical genetics in Africa
The African Genome Variation Project shapes medical genetics in Africa
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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

Nature (London), 2015-01, Vol.517 (7534), p.327-332 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits
Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits
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Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

Southam, Lorraine ; Gilly, Arthur ; Süveges, Dániel ; Farmaki, Aliki-Eleni ; Schwartzentruber, Jeremy ; Tachmazidou, Ioanna ; Matchan, Angela ; Rayner, Nigel W ; Tsafantakis, Emmanouil ; Karaleftheri, Maria ; Xue, Yali ; Dedoussis, George ; Zeggini, Eleftheria

Nature communications, 2017-05, Vol.8 (1), p.15606-15606, Article 15606 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Height-reducing variants and selection for short stature in Sardinia
Height-reducing variants and selection for short stature in Sardinia
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Height-reducing variants and selection for short stature in Sardinia

Zoledziewska, Magdalena ; Sidore, Carlo ; Chiang, Charleston W K ; Sanna, Serena ; Mulas, Antonella ; Steri, Maristella ; Busonero, Fabio ; Marcus, Joseph H ; Marongiu, Michele ; Maschio, Andrea ; Ortega Del Vecchyo, Diego ; Floris, Matteo ; Meloni, Antonella ; Delitala, Alessandro ; Concas, Maria Pina ; Murgia, Federico ; Biino, Ginevra ; Vaccargiu, Simona ; Nagaraja, Ramaiah ; Lohmueller, Kirk E ; Timpson, Nicholas J ; Soranzo, Nicole ; Tachmazidou, Ioanna ; Dedoussis, George ; Zeggini, Eleftheria ; Uzzau, Sergio ; Jones, Chris ; Lyons, Robert ; Angius, Andrea ; Abecasis, Gonçalo R ; Novembre, John ; Schlessinger, David ; Cucca, Francesco

Nature genetics, 2015-11, Vol.47 (11), p.1352-1356 [Periódico revisado por pares]

United States: Nature Publishing Group

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4
Estimating Genome-Wide Significance for Whole-Genome Sequencing Studies
Estimating Genome-Wide Significance for Whole-Genome Sequencing Studies
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Estimating Genome-Wide Significance for Whole-Genome Sequencing Studies

Xu, ChangJiang ; Tachmazidou, Ioanna ; Walter, Klaudia ; Ciampi, Antonio ; Zeggini, Eleftheria ; Greenwood, Celia M. T.

Genetic epidemiology, 2014-05, Vol.38 (4), p.281-290 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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5
A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates
A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates
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A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

Tachmazidou, Ioanna ; Dedoussis, George ; Southam, Lorraine ; Farmaki, Aliki-Eleni ; Ritchie, Graham R S ; Xifara, Dionysia K ; Matchan, Angela ; Hatzikotoulas, Konstantinos ; Rayner, Nigel W ; Chen, Yuan ; Pollin, Toni I ; O'Connell, Jeffrey R ; Yerges-Armstrong, Laura M ; Kiagiadaki, Chrysoula ; Panoutsopoulou, Kalliope ; Schwartzentruber, Jeremy ; Moutsianas, Loukas ; Tsafantakis, Emmanouil ; Tyler-Smith, Chris ; McVean, Gil ; Xue, Yali ; Zeggini, Eleftheria

Nature communications, 2013-12, Vol.4 (1), p.2872-2872, Article 2872 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Genetic association mapping via evolution-based clustering of haplotypes
Genetic association mapping via evolution-based clustering of haplotypes
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Genetic association mapping via evolution-based clustering of haplotypes

Tachmazidou, Ioanna ; Verzilli, Claudio J ; De Iorio, Maria Pritchard, Jonathan

PLoS genetics, 2007-07, Vol.3 (7), p.e111-e111 [Periódico revisado por pares]

United States: Public Library of Science

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7
Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data
Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data
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Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data

Tachmazidou, Ioanna ; Hatzikotoulas, Konstantinos ; Southam, Lorraine ; Esparza-Gordillo, Jorge ; Haberland, Valeriia ; Zheng, Jie ; Johnson, Toby ; Koprulu, Mine ; Zengini, Eleni ; Steinberg, Julia ; Wilkinson, Jeremy M ; Bhatnagar, Sahir ; Hoffman, Joshua D ; Buchan, Natalie ; Süveges, Dániel ; Yerges-Armstrong, Laura ; Smith, George Davey ; Gaunt, Tom R ; Scott, Robert A ; McCarthy, Linda C ; Zeggini, Eleftheria

Nature genetics, 2019-02, Vol.51 (2), p.230-236 [Periódico revisado por pares]

United States: Nature Publishing Group

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8
FinnGen provides genetic insights from a well-phenotyped isolated population
FinnGen provides genetic insights from a well-phenotyped isolated population
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FinnGen provides genetic insights from a well-phenotyped isolated population

Kurki, Mitja I ; Karjalainen, Juha ; Kristiansson, Kati ; Reeve, Mary P ; Aavikko, Mervi ; Lahtela, Elisa ; Mattsson, Hannele ; Della Briotta Parolo, Pietro ; Rämö, Joel ; Veerapen, Kumar ; Rüeger, Sina ; Lemmelä, Susanna ; Pärn, Kalle ; Hiekkalinna, Tero ; Paajanen, Teemu ; Gracia-Tabuenca, Javier ; Reis, Kadri ; Alasoo, Kaur ; Arvas, Mikko ; Auro, Kirsi ; Biswas, Shameek ; Bizaki-Vallaskangas, Argyro ; Dada, Oluwaseun A ; Ehm, Margaret G ; Färkkilä, Martti ; Finucane, Hilary ; Graham, Robert R ; Green, Eric M ; Hakanen, Antti ; Hedman, Åsa K ; Hiltunen, Mikko ; Hinttala, Reetta ; Hu, Xinli ; Jacob, Howard ; Jensen, Jan-Nygaard ; Joensuu, Heikki ; John, Sally ; Julkunen, Valtteri ; Jung, Marc ; Kaarniranta, Kai ; Kajanne, Risto ; Kaprio, Jaakko ; Kerimov, Nurlan ; Kettunen, Johannes ; Kilpi, Terhi ; Klinger, Katherine ; Kuopio, Teijo ; Kurra, Venla ; Laukkanen, Jari ; Lawless, Nathan ; Liu, Aoxing ; Longerich, Simonne ; Mägi, Reedik ; Mäkelä, Johanna ; Malarstig, Anders ; Mannermaa, Arto ; Maranville, Joseph ; Matakidou, Athena ; Mozaffari, Sahar V ; Niemi, Marianna ; Niiranen, Teemu ; O Donnell, Christopher J ; Obeidat, Ma En ; Palotie, Tuula ; Partanen, Jukka ; Paul, Dirk S ; Pelkonen, Margit ; Pendergrass, Rion K ; Petrovski, Slavé ; Platt, Adam ; Punkka, Eero ; Pussinen, Pirkko ; Raghavan, Neha ; Rajpal, Deepak ; Renaud, Nicole A ; Riley-Gillis, Bridget ; Salminen, Eveliina ; Salomaa, Veikko ; Serpi, Raisa ; Siegel, Richard ; Silander, Kaisa ; Siltanen, Sanna ; Sul, Jae Hoon ; Tasanen, Kaisa ; Tienari, Pentti ; Tukiainen, Taru ; Virolainen, Petri ; Waring, Jeffrey ; Waterworth, Dawn ; Yang, Robert ; Nelis, Mari ; Metspalu, Andres ; Fox, Caroline ; Perola, Markus ; Ripatti, Samuli ; Laitinen, Tarja ; Mäkelä, Tomi P ; Plenge, Robert ; Runz, Heiko ; Palotie, Aarno

Nature (London), 2023-01, Vol.613 (7944), p.508-518 [Periódico revisado por pares]

England: Nature Publishing Group

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9
In search of low-frequency and rare variants affecting complex traits
In search of low-frequency and rare variants affecting complex traits
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In search of low-frequency and rare variants affecting complex traits

Panoutsopoulou, Kalliope ; Tachmazidou, Ioanna ; Zeggini, Eleftheria

Human molecular genetics, 2013-10, Vol.22 (R1), p.R16-R21 [Periódico revisado por pares]

England: Oxford University Press

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10
Exome sequencing and characterization of 49,960 individuals in the UK Biobank
Exome sequencing and characterization of 49,960 individuals in the UK Biobank
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Exome sequencing and characterization of 49,960 individuals in the UK Biobank

Van Hout, Cristopher V ; Tachmazidou, Ioanna ; Backman, Joshua D ; Hoffman, Joshua D ; Liu, Daren ; Pandey, Ashutosh K ; Gonzaga-Jauregui, Claudia ; Khalid, Shareef ; Ye, Bin ; Banerjee, Nilanjana ; Li, Alexander H ; O'Dushlaine, Colm ; Marcketta, Anthony ; Staples, Jeffrey ; Schurmann, Claudia ; Hawes, Alicia ; Maxwell, Evan ; Barnard, Leland ; Lopez, Alexander ; Penn, John ; Habegger, Lukas ; Blumenfeld, Andrew L ; Bai, Xiaodong ; O'Keeffe, Sean ; Yadav, Ashish ; Praveen, Kavita ; Jones, Marcus ; Salerno, William J ; Chung, Wendy K ; Surakka, Ida ; Willer, Cristen J ; Hveem, Kristian ; Leader, Joseph B ; Carey, David J ; Ledbetter, David H ; Cardon, Lon ; Yancopoulos, George D ; Economides, Aris ; Coppola, Giovanni ; Shuldiner, Alan R ; Balasubramanian, Suganthi ; Cantor, Michael ; Nelson, Matthew R ; Whittaker, John ; Reid, Jeffrey G ; Marchini, Jonathan ; Overton, John D ; Scott, Robert A ; Abecasis, Gonçalo R ; Yerges-Armstrong, Laura ; Baras, Aris

Nature (London), 2020-10, Vol.586 (7831), p.749-756 [Periódico revisado por pares]

England: Nature Publishing Group

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