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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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2
A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis
A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis
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A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis

Ng, Michael ; Thakkar, Dipti ; Southam, Lorraine ; Werker, Paul ; Ophoff, Roel ; Becker, Kerstin ; Nothnagel, Michael ; Franke, Andre ; Nürnberg, Peter ; Espirito-Santo, Ana Isabel ; Izadi, David ; Hennies, Hans Christian ; Nanchahal, Jagdeep ; Zeggini, Eleftheria ; Furniss, Dominic

American journal of human genetics, 2017-09, Vol.101 (3), p.417-427 [Periódico revisado por pares]

United States: Elsevier Inc

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3
A molecular quantitative trait locus map for osteoarthritis
A molecular quantitative trait locus map for osteoarthritis
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A molecular quantitative trait locus map for osteoarthritis

Steinberg, Julia ; Southam, Lorraine ; Roumeliotis, Theodoros I ; Clark, Matthew J ; Jayasuriya, Raveen L ; Swift, Diane ; Shah, Karan M ; Butterfield, Natalie C ; Brooks, Roger A ; McCaskie, Andrew W ; Bassett, J H Duncan ; Williams, Graham R ; Choudhary, Jyoti S ; Wilkinson, J Mark ; Zeggini, Eleftheria

Nature communications, 2021-02, Vol.12 (1), p.1309-11, Article 1309 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Whole-genome sequencing analysis of the cardiometabolic proteome
Whole-genome sequencing analysis of the cardiometabolic proteome
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Whole-genome sequencing analysis of the cardiometabolic proteome

Gilly, Arthur ; Park, Young-Chan ; Png, Grace ; Barysenka, Andrei ; Fischer, Iris ; Bjørnland, Thea ; Southam, Lorraine ; Suveges, Daniel ; Neumeyer, Sonja ; Rayner, N William ; Tsafantakis, Emmanouil ; Karaleftheri, Maria ; Dedoussis, George ; Zeggini, Eleftheria

Nature communications, 2020-12, Vol.11 (1), p.6336-9, Article 6336 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations
Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations
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Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations

Xue, Yali ; Mezzavilla, Massimo ; Haber, Marc ; McCarthy, Shane ; Chen, Yuan ; Narasimhan, Vagheesh ; Gilly, Arthur ; Ayub, Qasim ; Colonna, Vincenza ; Southam, Lorraine ; Finan, Christopher ; Massaia, Andrea ; Chheda, Himanshu ; Palta, Priit ; Ritchie, Graham ; Asimit, Jennifer ; Dedoussis, George ; Gasparini, Paolo ; Palotie, Aarno ; Ripatti, Samuli ; Soranzo, Nicole ; Toniolo, Daniela ; Wilson, James F ; Durbin, Richard ; Tyler-Smith, Chris ; Zeggini, Eleftheria

Nature communications, 2017-06, Vol.8 (1), p.15927-15927, Article 15927 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Functional Variants within the Secreted Frizzled-Related Protein 3 Gene Are Associated with Hip Osteoarthritis in Females
Functional Variants within the Secreted Frizzled-Related Protein 3 Gene Are Associated with Hip Osteoarthritis in Females
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Functional Variants within the Secreted Frizzled-Related Protein 3 Gene Are Associated with Hip Osteoarthritis in Females

Loughlin, John ; Dowling, Barbara ; Chapman, Kay ; Marcelline, Lucy ; Mustafa, Zehra ; Southam, Lorraine ; Ferreira, Athena ; Ciesielski, Cathleen ; Carson, Dennis A. ; Corr, Maripat

Proceedings of the National Academy of Sciences - PNAS, 2004-06, Vol.101 (26), p.9757-9762 [Periódico revisado por pares]

United States: National Academy of Sciences

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7
Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations
Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations
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Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations

Kuchenbaecker, Karoline ; Gilly, Arthur ; Suveges, Daniel ; Southam, Lorraine ; Giannakopoulou, Olga ; Kilian, Britt ; Tsafantakis, Emmanouil ; Karaleftheri, Maria ; Farmaki, Aliki-Eleni ; Gurdasani, Deepti ; Kundu, Kousik ; Sandhu, Manjinder S ; Danesh, John ; Butterworth, Adam ; Barroso, Inês ; Dedoussis, George ; Zeggini, Eleftheria

Scientific reports, 2022-01, Vol.12 (1), p.1131-13, Article 1131 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits
Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits
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Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

Gilly, Arthur ; Suveges, Daniel ; Kuchenbaecker, Karoline ; Pollard, Martin ; Southam, Lorraine ; Hatzikotoulas, Konstantinos ; Farmaki, Aliki-Eleni ; Bjornland, Thea ; Waples, Ryan ; Appel, Emil V R ; Casalone, Elisabetta ; Melloni, Giorgio ; Kilian, Britt ; Rayner, Nigel W ; Ntalla, Ioanna ; Kundu, Kousik ; Walter, Klaudia ; Danesh, John ; Butterworth, Adam ; Barroso, Inês ; Tsafantakis, Emmanouil ; Dedoussis, George ; Moltke, Ida ; Zeggini, Eleftheria

Nature communications, 2018-11, Vol.9 (1), p.4674-9, Article 4674 [Periódico revisado por pares]

England: Nature Publishing Group

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9
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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10
Radiographic endophenotyping in hip osteoarthritis improves the precision of genetic association analysis
Radiographic endophenotyping in hip osteoarthritis improves the precision of genetic association analysis
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Radiographic endophenotyping in hip osteoarthritis improves the precision of genetic association analysis

Panoutsopoulou, Kalliope ; Thiagarajah, Shankar ; Zengini, Eleni ; Day-Williams, Aaron G ; Ramos, Yolande FM ; Meessen, Jennifer MTA ; Huetink, Kasper ; Nelissen, Rob GHH ; Southam, Lorraine ; Rayner, N William ; Doherty, Michael ; Meulenbelt, Ingrid ; Zeggini, Eleftheria ; Wilkinson, J Mark

Annals of the rheumatic diseases, 2017-07, Vol.76 (7), p.1199-1206 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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