Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Athanasios Kousathanas"'
Autor:
Eric Olinger, Ian J. Wilson, Sarah Orr, Miguel Barroso-Gil, Ruxandra Neatu, Denize Atan, John A. Sayer, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101834- (2024)
Purpose: In parent-child trios with genome sequencing data, we investigated inherited biallelic deletions to identify known and novel genetic disorders. Methods: We developed a copy-number variations analysis pipeline based on autosomal genome sequen
Externí odkaz:
https://doaj.org/article/428632089e9d4e95b7ebde0ffccbd212
Autor:
Marion Patxot, Daniel Trejo Banos, Athanasios Kousathanas, Etienne J. Orliac, Sven E. Ojavee, Gerhard Moser, Alexander Holloway, Julia Sidorenko, Zoltan Kutalik, Reedik Mägi, Peter M. Visscher, Lars Rönnegård, Matthew R. Robinson
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Improving inference in large-scale genetic data linked to electronic medical record data requires the development of novel computationally efficient regression methods. Here, the authors develop a Bayesian approach for association analyses to improve
Externí odkaz:
https://doaj.org/article/d0005592df464e3ea0bdfbf2ebf8a4d7
Autor:
Melanie MY Chan, Omid Sadeghi-Alavijeh, Filipa M Lopes, Alina C Hilger, Horia C Stanescu, Catalin D Voinescu, Glenda M Beaman, William G Newman, Marcin Zaniew, Stefanie Weber, Yee Mang Ho, John O Connolly, Dan Wood, Carlo Maj, Alexander Stuckey, Athanasios Kousathanas, Genomics England Research Consortium, Robert Kleta, Adrian S Woolf, Detlef Bockenhauer, Adam P Levine, Daniel P Gale
Publikováno v:
eLife, Vol 11 (2022)
Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in children, but the genetic architecture of this rare disorder remains unknown. We performed a sequencing-based genome-wide association study (seqGWAS) in 132 unrelat
Externí odkaz:
https://doaj.org/article/b936c97484754cea89d1fbd490886997
Autor:
Sven E. Ojavee, Athanasios Kousathanas, Daniel Trejo Banos, Etienne J. Orliac, Marion Patxot, Kristi Läll, Reedik Mägi, Krista Fischer, Zoltan Kutalik, Matthew R. Robinson
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
Few genome-wide association studies have explored the genetic architecture of age-of-onset for traits and diseases. Here, the authors develop a Bayesian approach to improve prediction in timing-related phenotypes and perform age-of-onset analyses acr
Externí odkaz:
https://doaj.org/article/98babe5c070d44148cee67c1123085fa
Autor:
Robert F. Hillary, Daniel Trejo-Banos, Athanasios Kousathanas, Daniel L. McCartney, Sarah E. Harris, Anna J. Stevenson, Marion Patxot, Sven Erik Ojavee, Qian Zhang, David C. Liewald, Craig W. Ritchie, Kathryn L. Evans, Elliot M. Tucker-Drob, Naomi R. Wray, Allan F. McRae, Peter M. Visscher, Ian J. Deary, Matthew R. Robinson, Riccardo E. Marioni
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-15 (2020)
Abstract Background The molecular factors which control circulating levels of inflammatory proteins are not well understood. Furthermore, association studies between molecular probes and human traits are often performed by linear model-based methods
Externí odkaz:
https://doaj.org/article/19534d9a8ec84e659ab1448d4b67f986
Autor:
Daniel L Halligan, Athanasios Kousathanas, Rob W Ness, Bettina Harr, Lél Eöry, Thomas M Keane, David J Adams, Peter D Keightley
Publikováno v:
PLoS Genetics, Vol 9, Iss 12, p e1003995 (2013)
The contribution of regulatory versus protein change to adaptive evolution has long been controversial. In principle, the rate and strength of adaptation within functional genetic elements can be quantified on the basis of an excess of nucleotide sub
Externí odkaz:
https://doaj.org/article/e5c9a33f7be8443caf7eeda4621c9fbf
Autor:
Samar Yahya, Claire E.L. Smith, James A. Poulter, Martin McKibbin, Gavin Arno, Jamie Ellingford, Kati Kämpjärvi, Muhammad I. Khan, Frans P.M. Cremers, Alison J. Hardcastle, Bruce Castle, David H.W. Steel, Andrew R. Webster, Graeme C. Black, Mohammed E. El-Asrag, Manir Ali, Carmel Toomes, Chris F. Inglehearn, Stuart Ingram, Rachel Taylor, Forbes Manson, Panagiotis Sergouniotis, Nikolas Pontikos, Michael Cheetham, Alessia Fiorentino, Susan Downes, Jing Yu, Stephanie Halford, Suzanne Broadgate, Veronica van Heyningen, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood
Publikováno v:
Ophthalmology, 130, 68-76
Ophthalmology, 130, 1, pp. 68-76
Ophthalmology, 130, 1, pp. 68-76
To characterize the phenotype observed in a case series with macular disease and determine the cause.Multicenter case series.Six families (7 patients) with sporadic or multiplex macular disease with onset at 20 to 78 years, and 1 patient with age-rel
Autor:
Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Sadegheh Haghshenas, Kathleen Rooney, Jasmin Turner, Debbie Shears, Muriel Holder, Henrietta Lefroy, Bruce Castle, Linda M. Reis, Elena V. Semina, Katherine Lachlan, Kate Chandler, Thomas Wright, Jill Clayton-Smith, Franziska Phan Hug, Nelly Pitteloud, Lucia Bartoloni, Sabine Hoffjan, Soo-Mi Park, Ajay Thankamony, Melissa Lees, Emma Wakeling, Swati Naik, Britta Hanker, Katta M. Girisha, Emanuele Agolini, Zampino Giuseppe, Ziegler Alban, Marine Tessarech, Boris Keren, Alexandra Afenjar, Christiane Zweier, Andre Reis, Thomas Smol, Yoshinori Tsurusaki, Okamoto Nobuhiko, Futoshi Sekiguchi, Naomi Tsuchida, Naomichi Matsumoto, Ikuyo Kou, Yoshiro Yonezawa, Shiro Ikegawa, Bert Callewaert, Megan Freeth, Lotte Kleinendorst, Alan Donaldson, Marielle Alders, Anne De Paepe, Bekim Sadikovic, Alisdair McNeill, Deborah Nickerson, Michael Bamshad, Suzanne Leal, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, null FionaMaleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, null TahrimaRahim, Augusto Rendon, null TimRogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood
Publikováno v:
Genetics in medicine, 24(6), 1261-1273. Lippincott Williams and Wilkins
GENETICS IN MEDICINE
Genet Med
GENETICS IN MEDICINE
Genet Med
Purpose: This study aimed to undertake a multidisciplinary characterization of the phenotype associated with SOX11 variants. Methods: Individuals with protein altering variants in SOX11 were identified through exome and genome sequencing and internat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::158b0e320e882cf61f6d36ec60d62c1a
Autor:
Kristi Läll, Etienne J. Orliac, Marion Patxot, Zoltán Kutalik, Athanasios Kousathanas, Reedik Mägi, Sven Erik Ojavee, Daniel Trejo Banos, Matthew R. Robinson, Krista Fischer
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
Nature communications, vol. 12, no. 1, pp. 2337
Nature Communications
Nature communications, vol. 12, no. 1, pp. 2337
Nature Communications
While recent advancements in computation and modelling have improved the analysis of complex traits, our understanding of the genetic basis of the time at symptom onset remains limited. Here, we develop a Bayesian approach (BayesW) that provides prob
Autor:
Daniel L. McCartney, Athanasios Kousathanas, Qian Zhang, Naomi R. Wray, Marion Patxot, Riccardo E. Marioni, Daniel Trejo-Banos, Ian J. Deary, Matthew R. Robinson, Craig W. Ritchie, Robert F. Hillary, Sven Erik Ojavee, Allan F. McRae, David C. Liewald, Peter M. Visscher, Anna J. Stevenson, Elliot M. Tucker-Drob, Kathryn L. Evans, Sarah E. Harris
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-15 (2020)
Genome Medicine
Hillary, R, Trejo-Banos, D, Kousathanas, A, McCartney, D L, Harris, S E, Stevenson, A J, Patxot, M, Ojavee, S E, Zhang, Q, Liewald, D C, Ritchie, C W, Evans, K L, Tucker-Drob, E M, Wray, N R, McRae, A F, Visscher, P M, Deary, I J, Robinson, M R & Marioni, R E 2020, ' Multi-method genome-and epigenome-wide studies of inflammatory protein levels in healthy older adults ', Genome Medicine, vol. 12, 60 . https://doi.org/10.1186/s13073-020-00754-1
Genome medicine, vol. 12, no. 1, pp. 60
Genome Medicine
Hillary, R, Trejo-Banos, D, Kousathanas, A, McCartney, D L, Harris, S E, Stevenson, A J, Patxot, M, Ojavee, S E, Zhang, Q, Liewald, D C, Ritchie, C W, Evans, K L, Tucker-Drob, E M, Wray, N R, McRae, A F, Visscher, P M, Deary, I J, Robinson, M R & Marioni, R E 2020, ' Multi-method genome-and epigenome-wide studies of inflammatory protein levels in healthy older adults ', Genome Medicine, vol. 12, 60 . https://doi.org/10.1186/s13073-020-00754-1
Genome medicine, vol. 12, no. 1, pp. 60
BACKGROUND: The molecular factors which control circulating levels of inflammatory proteins are not well understood. Furthermore, association studies between molecular probes and human traits are often performed by linear model-based methods which ma