Publication: Nature Biotechnology

Johannes Bargehr, Lay Ping Ong, Maria Colzani, Hongorzul Davaapil, Peter Hofsteen, Shiv Bhandari, Laure Gambardella, Nicolas Le Novère, Dharini Iyer, Fotios Sampaziotis, Florian Weinberger, Alessandro Bertero, Andrea Leonard, William G. Bernard, Amy Martinson, Nichola Figg, Michael Regnier, Martin R. Bennett, Charles E. Murry & Sanjay Sinha

Summary:

Transplanting an area of damaged tissue with a combination of both heart and muscle cells and supportive cells taken from the outer layer of the heart wall, may be able to help the organs recover from the damage caused by a heart attack. Part funded by the BHF and NIHR and supported by the NIHR Cambridge BRC, researchers have used supportive epicardial cells developed from human stem cells to help transplanted heart cells live longer. Full story here

Publication: Nature

Publication: Kidney International

Publication: Brain

David Howett, Andrea Castegnaro, Katarzyna Krzywicka, Johanna Hagman, Deepti Marchment, Richard Henson, Miguel Rio, John A King, Neil Burgess, Dennis Chan

Summary:

This research showed that a virtual reality test of spatial navigation was more effective at identifying patients with mild cognitive impairment (MCI) due to Alzheimer’s disease (AD) than gold standard tests of memory and thinking currently used in clinic and research studies. More here

Publication: PLOS Medicine

David Wastlund, Alexandros A. Moraitis, Alison Dacey, Ulla Sovio, Edward C. F. Wilson, Gordon C. S. Smith

16 April 2019

Summary:

Despite the relative ease with which breech presentation can be identified through ultrasound screening, the assessment of foetal presentation at term is often based on clinical examination only. Due to limitations in this approach, many women present in labour with an undiagnosed breech presentation, with increased risk of foetal morbidity and mortality. This study sought to determine the cost effectiveness of universal ultrasound scanning for breech presentation near term (36 weeks of gestational age [wkGA]) in nulliparous women.

Publication: Frontiers in Immunology

Manu Chhabra, Jawaher Alsughayyir, M. Saeed Qureshi, Mekhola Mallik, Jason M. Ali, Ivonne Gamper, Ellen L. Moseley, Sarah Peacock, Vasilis Kosmoliaptsis, Martin J. Goddard, Michelle A. Linterman, Reza Motallebzadeh and Gavin J. Pettigrew

23 January 2019

Summary:

Different profiles of alloantibody responses are observed in the clinic, with those that persist, often despite targeted treatment, associated with poorer long-term transplant outcomes. Although such responses would suggest an underlying germinal center (GC) response, the relationship to cellular events within the allospecific B cell population is unclear. Here we examine the contribution of germinal center (GC) humoral alloimmunity to chronic antibody mediated rejection (AMR)…

This work is composed of two parts, of which this is Part II. Please read also Part I: Alsughayyir et al., 2019.

Publication: Frontiers in Immunology

Jawaher Alsughayyir, Manu Chhabra, M. Saeed Qureshi, Mekhola Mallik, Jason M. Ali, Ivonne Gamper, Ellen L. Moseley, Sarah Peacock, Vasilis Kosmoliaptsis, Martin J. Goddard, Michelle A. Linterman, Reza Motallebzadeh, Gavin J. Pettigrew

22 January 2019

Summary:

Humoral alloimmunity is now recognized as a major determinant of transplant outcome. MHC glycoprotein is considered a typical T-dependent antigen, but the nature of the T cell alloresponse that underpins alloantibody generation remains poorly understood. This paper examines how the relative frequencies of alloantigen-specific B cells and helper CD4 T cells influence the humoral alloimmune response and how this relates to antibody-mediated rejection (AMR).

Publication: BMJ Open

John OO Ayorinde, Dominic M Summers, Laura Pankhurst, Emma Laing, Alison J Deary, Karla Hemming, Edward CF Wilson, Victoria Bardsley, Desley A Neil, Gavin J Pettigrew

17 January 2019

Summary:

Most potential kidney transplant donors in the UK are aged over 60 years, yet increasing donor age is associated with poorer graft survival and function. Urgent preimplantation kidney biopsy can identify chronic injury, and may aid selection of better ‘quality’ kidneys from this group. However, the impact of biopsy on transplant numbers remains unproven. The PreImplantation Trial of Histopathology In renal Allografts (PITHIA) study will assess whether the introduction of a national, 24 hours, digital histopathology service increases the number, and improves outcomes, of kidneys transplanted in the UK from older deceased donors.

Publication: Journal of Hepatology

Rhiannon Taylor, Elisa Allen, James A. Richards, Mingzheng A. Goh, James Neuberger, David Collett, Gavin J. Pettigrew, Liver Advisory Group to NHS Blood and Transplant

11 January 2019

Summary:

This study looks at patients who require a liver transplant to save their lives; this liver can be donated by a person who has died either after their heart has stopped (donation after cardiac death – DCD) or after the brain has been injured and can no longer support life (donation after brainstem death – DCB). We know that livers donated after brainstem death function better than those after cardiac death, but there are not enough of these livers for everyone, so we wished to help patients decide whether it was better for them to accept an early offer of a DCD liver than waiting longer to receive a “better” liver from a DBD donor. We found that patients were more likely to survive if they accepted the offer of a liver transplant as soon as possible (DCD or DBD), especially if their liver disease was very severe.

Publication: American Journal of Transplantation

Ines G. Harper, Olivera Gjorgjimajkoska, Jacqueline H. Y. Siu, Jasvir Parmar, Arend Mulder, Frans H. J. Claas, Sarah A. Hosgood, Michael L. Nicholson, Reza Motallebzadeh, Gavin J. Pettigrew

12 December 2018

Summary:

Tissue resident lymphocytes are present within many organs, and are presumably transferred at transplantation, but their impact on host immunity is unclear. Here, we examine whether transferred donor natural regulatory CD4 T cells (nT‐regs) inhibit host alloimmunity and prolong allograft survival.

Publication: Journal of Autoimmunity

M. Saeed Qureshi, Jawaher Alsughayyir, Manu Chhabra, Jason M. Ali, Martin J. Goddard, Christopher A. Devine, Thomas M. Conlon, Michelle A. Linterman, Reza Motallebzadeh, Gavin J.Pettigrew

7 December 2018

Summary:

The development of humoral autoimmunity following organ transplantation is increasingly recognised, but of uncertain significance. We examine whether autoimmunity contributes independently to allograft rejection.

Publication: Frontiers in Immunology

Jacqueline H. Y. Siu, Veena Surendrakumar, James A. Richards and Gavin J. Pettigrew

5 November 2018

Summary:

Transplantation is unusual in that T cells can recognize alloantigen by at least two distinct pathways: as intact MHC alloantigen on the surface of donor cells via the direct pathway; and as self-restricted processed alloantigen via the indirect pathway. Direct pathway responses are viewed as strong but short-lived and hence responsible for acute rejection, whereas indirect pathway responses are typically thought to be much longer lasting and mediate the progression of chronic rejection. However, this is based on surprisingly scant experimental evidence, and the recent demonstration that MHC alloantigen can be re-presented intact on recipient dendritic cells—the semi-direct pathway—suggests that the conventional view may be an oversimplification.

Publication:

Jason M. Ali, Margaret C. Negus, Thomas M. Conlon, Ines G. Harper, M. Saeed Qureshi, Reza Motallebzadeh, Richard Willis, Kourosh Saeb-Parsy, Eleanor M. Bolton,  J. Andrew Bradley, Gavin J. Pettigrew

9 February 2016

Summary:

MHC alloantigen is recognized by two pathways: “directly,” intact on donor cells, or “indirectly,” as self-restricted allopeptide. The duration of each pathway, and its relative contribution to allograft vasculopathy, remain unclear. Using a murine model of chronic allograft rejection, we report that direct-pathway CD4 T cell alloresponses, as well as indirect-pathway responses against MHC class II alloantigen, are curtailed by rapid elimination of donor hematopoietic antigen-presenting cells. In contrast, persistent presentation of epitope resulted in continual division and less-profound contraction of the class I allopeptide-specific CD4 T cell population, with approximately 10,000-fold more cells persisting than following acute allograft rejection. This expanded population nevertheless displayed sub-optimal anamnestic responses and was unable to provide co-stimulation-independent help for generating alloantibody. Indirect-pathway CD4 T cell responses are heterogeneous. Appreciation that responses against particular alloantigens dominate at late time points will likely inform development of strategies aimed at improving transplant outcomes.

Publication: Frontiers in Behavioural Neuroscience

George Savulich, Emily Thorp, Thomas Piercy, Katie A Peterson, John D Pickard, Barbara J Sahakian.

21 Jan 2019

Summary:

A new ‘brain training’ game designed by researchers at the University of Cambridge improves users’ concentration, according to new research published today. The scientists behind the venture say this could provide a welcome antidote to the daily distractions that we face in a busy world.

A team from the Behavioural and Clinical Neuroscience Institute at the University of Cambridge, has developed and tested ‘Decoder’, a new game that is aimed at helping users improve their attention and concentration. The game is based on the team’s own research and has been evaluated scientifically.

In a study published in the journal Frontiers in Behavioural Neuroscience Professor Sahakian and colleague Dr George Savulich have demonstrated that playing Decoder on an iPad for eight hours over one month improves attention and concentration. This form of attention activates a frontal-parietal network in the brain. Read the full story here

Publication: Oxford Academic

Lisa Pennells, Stephen Kaptoge, AngelaWood, Mike Sweeting , Xiaohui Zhao, Ian White, Stephen Burgess, Peter Willeit, Thomas Bolton, Karel G.M. Moons, Yvonne T. van der Schouw, Randi Selmer, Kay-Tee Khaw, Vilmundur Gudnason, Gerd Assmann, Philippe Amouyel, Veikko Salomaa, Mika Kivimaki, Børge G. Nordestgaard, Michael J. Blaha, Lewis H. Kuller, Hermann Brenner, Richard F. Gillum, Christa Meisinger, Ian Ford, MatthewW. Knuiman, Annika Rosengren, Debbie A. Lawlor, Henry Vo¨ lzke, Cyrus Cooper, Alejandro Marı´n Iba~nez, Edoardo Casiglia, Jussi Kauhanen, Jackie A. Cooper, Beatriz Rodriguez, Johan Sundstro¨m, Elizabeth Barrett-Connor, Rachel Dankner, Paul J. Nietert, KarinaW. Davidson, Robert B.Wallace, Dan G. Blazer, Cecilia Bjo¨ rkelund, Chiara Donfrancesco, Harlan M. Krumholz, Aulikki Nissinen, Barry R. Davis, Sean Coady, Peter H.Whincup, Torben Jørgensen, Pierre Ducimetiere, Maurizio Trevisan, Gunnar Engstro¨m, Carlos J. Crespo, TomW. Meade,  Marjolein Visser, Daan Kromhout, Stefan Kiechl, Makoto Daimon, Jackie F. Price, Agustin Go´mez de la Ca´mara, JWouter Jukema, Benoıˆt Lamarche, Altan Onat, Leon A. Simons, Maryam Kavousi, Yoav Ben-Shlomo, John Gallacher, Jacqueline M. Dekker, Hisatomi Arima, Nawar Shara, RobertW. Tipping, Ronan Roussel, Eric J Brunner, Wolfgang Koenig, Masaru Sakurai, Jelena Pavlovic, Ron T. Gansevoort, Dorothea Nagel, Uri Goldbourt, Elizabeth L.M. Barr, Luigi Palmieri, Inger Njølstad, Shinichi Sato,W.M. Monique Verschuren, Cherian V. Varghese, Ian Graham, Oyere Onuma, Philip Greenland, MarkWoodward, Majid Ezzati, Bruce M. Psaty, Naveed Sattar, Rod Jackson, Paul M. Ridker, Nancy R. Cook, Ralph B. D’Agostino, Sr, Simon G Thompson, John Danesh, Emanuele Di Angelantonio

Publication: BMJ

Loes CA Rutten-Jacobs, Susanna C Larsson,, Rainer Malik,, Kristiina Rannikmäe, MEGASTROKE consortium, International Stroke Genetics Consortium, Cathie L Sudlow, Martin Dichgans, Hugh S Markus, professor2, Matthew Traylor

Summary:

Researchers investigated whether a genetic risk score for stroke is associated with actual (“incident”) stroke in a large population of British adults.

They developed a genetic risk score based on 90 gene variants known to be associated with stroke from 306,473 white men and women in the UK Biobank – a database of biological information from half a million British adults.

Participants were aged between 40 and 73 years and had no history of stroke or heart attack. Adherence to a healthy lifestyle was based on four factors: non-smoker, diet rich in fruit, vegetables and fish, not overweight or obese (body mass index less than 30), and regular physical exercise.

A high genetic risk combined with an unfavourable lifestyle profile was associated with a more than twofold increased risk of stroke compared with a low genetic risk and a favourable lifestyle. Full story here

Publication: Nature

Baland Jalal, Annette Brühl, Claire O’Callaghan, Thomas Piercy, Rudolf N. Cardinal, Vilayanur S. Ramachandran and Barbara J. Sahakian

Summary:

Publication: Journal of the American College of Cardiology

Michael Inouye, Gad Abraham, Christopher P. Nelson, Angela M. Wood, Michael J. Sweeting, Frank Dudbridge, Florence Y. Lai, Stephen Kaptoge, Marta Brozynska, Tingting Wang, Shu Ye, Thomas R. Webb, Martin K. Rutter, Ioanna Tzoulaki,Riyaz S. Patel, Ruth J.F. Loos, Bernard Keavney, Harry Hemingway, John Thompson, Hugh Watkins, Panos Deloukas,Emanuele Di Angelantonio, Adam S. Butterworth, John Danesh, Nilesh J. Samani

Summary:

Genetic factors have long been known to be major contributors of someone’s risk of developing coronary heart disease – the leading cause of heart attacks. Currently to identify those at risk doctors use scores based on lifestyle and clinical conditions associated with coronary heart disease such as cholesterol level, blood pressure, diabetes and smoking. But these scores are imprecise, age-dependent and miss a large proportion of people who appear ‘healthy’, but will still develop the disease.

The ‘big-data’ GRS technique takes into account 1.7 million genetic variants in a person’s DNA to calculate their underlying genetic risk for coronary heart disease.

The team analysed genomic data of nearly half a million people from the UK Biobank research project aged between 40-69 years. This included over 22,000 people who had coronary heart disease.

The GRS was better at predicting someone’s risk of developing heart disease than each of the classic risk factors for coronary heart disease alone. The ability of the GRS to predict coronary heart disease was also largely independent of these known risk factors. This showed that the genes which increase the risk of coronary heart disease don’t simply work by elevating blood pressure or cholesterol, for example.

People with a genomic risk score in the top 20 per cent of the population were over four-times more likely to develop coronary heart disease than someone with a genomic risk score in the bottom 20 per cent. Read the full press release

Publication: Nature Genetics

Geoff Macintyre, Teodora E. Goranova, Dilrini De Silva, Darren Ennis, Anna M. Piskorz, Matthew Eldridge, Daoud Sie, Liz-Anne Lewsley, Aishah Hanif, Cheryl Wilson, Suzanne Dowson, Rosalind M. Glasspool, Michelle Lockley, Elly Brockbank, Ana Montes, Axel Walther, Sudha Sundar, Richard Edmondson, Geoff D. Hall, Andrew Clamp, Charlie Gourley, Marcia Hall, Christina Fotopoulou, Hani Gabra, James Paul, Anna Supernat, David Millan, Aoisha Hoyle, Gareth Bryson, Craig Nourse, Laura Mincarelli, Luis Navarro Sanchez, Bauke Ylstra, Mercedes Jimenez-Linan, Luiza Moore, Oliver Hofmann, Florian Markowetz, Iain A. McNeish and James D. Brenton

Summary:

Researchers have found distinct patterns of DNA rearrangement that are linked to patient outcomes.

In this study of ovarian cancer samples from over 500 women, the research team harnessed big data processing techniques to look for broad patterns in the genetic readouts from ovarian cancer cells.

Rather than focusing on the detail of each individual mistake in the DNA, they designed powerful computer algorithms to scan the genetic data, finding seven distinct patterns.

They showed that each pattern, or “signature”, represented a different mechanism of DNA mutation. Taken together, these signatures were able to make sense of the chaos seen in ovarian cancer genomes. Read the full story here

Publication: The Lancet

Michael J Sweeting, Katya L Masconi, PhD, Edmund Jones, PhD, Pinar Ulug, PhD, Matthew J Glover, MSc, Prof Jonathan A Michaels, MChir, Prof Matthew J Bown, MD, Prof Janet T Powell, MD, Prof Simon G Thompson, DSc

Summary:

The NHS introduced ultrasound screening in men aged 65 and over in 2009 to detect and treat the condition – which arises when the main blood vessel swells in the abdomen, and is symptomless until the point of rupture. Since the launch, the programme has been successfully screening and identifying men at risk of an AAA.

Researchers wanted to see if UK women – who are less likely to have AAAs – could also benefit from a similar screening programme. Read the full press release here

Publication: The Lancet

Gemma D Banham, MRCP(UK), Shaun M Flint, FRACP,  Nicholas Torpey, FRCP, Paul A Lyons, PhD, Don N Shanahan, MSc, Adele Gibson, BSc, Prof Christopher J E Watson, FRCS, Ann-Marie O’Sullivan, MRes, Joseph A Chadwick, Katie E Foster, PhD, Rachel B Jones, FRCP, Luke R Devey, MRCSEd, Anna Richards, MRCP(UK), Prof Lars-Peter Erwig, MD, Prof Caroline O Savage,FMedSci, Prof Kenneth G C Smith, FMedSci, Robert B Henderson, PhD, Menna R Clatworthy, FRCP†,

Summary:

Transplantation is the best form of treatment for most patients with end-stage renal failure, but long-term graft survival is limited by the development of antibodies against the graft. There is therefore a major unmet need to find immunosuppressants that target humoral alloimmunity.

Researchers investigated the use of Belimumab, a monoclonal antibody that binds the B cell pro-survival cytokine BAFF, in kidney transplant recipients.

The study found that the use of belimumab was not associated with any excess risk of infection, and led to a reduction in antibody-producing plasmablasts, activated memory B cells, new IgG antibody formation and in non-HLA IgG antibodies associated with poor graft outcomes. Remarkably, belimumab treatment spared regulatory B cells – a cell type associated with transplant tolerance, with an increase in IL10-producing B cells observed.

Publication: The Lancet

Angela M Wood PhD, P, Stephen Kaptoge, PhD, Adam S Butterworth, PhD, Peter Willeit, MD, Samantha Warnakula, PhD, Thomas Bolton, MMath, Ellie Paige, PhD, Dirk S Paul, PhD, Michael Sweeting, PhD, Stephen Burgess, PhD, Steven Bell, PhD, William Astle, PhD, David Stevens, MSc, Albert Koulman, PhD, Randi M Selmer, PhD, Prof W M Monique Verschuren, PhD, Prof Shinichi Sato, MD, Prof Inger Njølstad, MD, Prof Mark Woodward, PhD, Prof Veikko Salomaa, MD, Prof Børge G Nordestgaard, MD, Prof Bu B Yeap, MBBS, Prof Astrid Fletcher, PhD, Prof Olle Melander, MD, Prof Lewis H Kuller, MD, Beverley Balkau, PhD, Prof Michael Marmot, FMedSci, Prof Wolfgang Koenig, MD, Prof Edoardo Casiglia, MD, Prof Cyrus Cooper, FMedSci, Volker Arndt, MD, Prof Oscar H Franco, MD, Patrik Wennberg, MD, Prof John Gallacher, PhD, Agustín Gómez de la Cámara, MD, Prof Henry Völzke, MD, Christina C Dahm, PhD, Caroline E Dale, PhD, Manuela M Bergmann, PhD, Carlos J Crespo, PhD, Prof Yvonne T van der Schouw, PhD, Prof Rudolf Kaaks, MD, Leon A Simons, MD, Pagona Lagiou, MD, Josje D Schoufour, PhD, Jolanda M A Boer, PhD, Prof Timothy J Key, DPhil, Beatriz Rodriguez, MD, Conchi Moreno-Iribas, PhD, Karina W Davidson, PhD, James O Taylor, MD, Carlotta Sacerdote, PhD, Prof Robert B Wallace, MD, J Ramon Quiros, MD, Prof Rosario Tumino, MD, Dan G Blazer II, MD, Prof Allan Linneberg, MD, Makoto Daimon, MD, Salvatore Panico, MD, Barbara Howard, PhD, Guri Skeie, PhD, Prof Timo Strandberg, MD, Prof Elisabete Weiderpass, PhD, Prof Paul J Nietert, PhD, Prof Bruce M Psaty, MD, Prof Daan Kromhout, PhD, Elena Salamanca-Fernandez, MSc, Prof Stefan Kiechl, MD, Prof Harlan M Krumholz, MD, Sara Grioni, BSc, Domenico Palli, MD, José M Huerta, PhD, Prof Jackie Price, MD, Prof Johan Sundström, MD, Larraitz Arriola, MD, Prof Hisatomi Arima, MD, Ruth C Travis, DPhil, Prof Demosthenes B Panagiotakos, PhD, Anna Karakatsani, MD, Prof Antonia Trichopoulou, MD, Tilman Kühn, PhD, Prof Diederick E Grobbee, MD, Elizabeth Barrett-Connor, MD, Natasja van Schoor, MD, Prof Heiner Boeing, PhD, Prof Kim Overvad, MD, Prof Jussi Kauhanen, MD, Prof Nick Wareham, MD, Claudia Langenberg, MD, Prof Nita Forouhi, PhD, Maria Wennberg, PhD, Prof Jean-Pierre Després, DPhil, Prof Mary Cushman, MD, Jackie A Cooper, MSc, Prof Carlos J Rodriguez, MD, Masaru Sakurai, MD, Jonathan E Shaw, PhD, Prof Matthew Knuiman, PhD, Trudy Voortman, PhD, Prof Christa Meisinger, MD, Anne Tjønneland, MD, Prof Hermann Brenner, MD, Luigi Palmieri, PhD, Jean Dallongeville, MD, Prof Eric J Brunner, PhD, Prof Gerd Assmann, MD, Maurizio Trevisan, MD, Richard F Gillum, MD, Prof Ian Ford, PhD, Prof Naveed Sattar, FMedSci, Mariana Lazo, MD, Prof Simon G Thompson, FMedSci, Pietro Ferrari, PhD, Prof David A Leon, PhD, Prof George Davey Smith, MD, Prof Richard Peto, FRS, Prof Rod Jackson, PhD, Prof Emily Banks, PhD, Emanuele Di Angelantonio, MD, Prof John Danesh,

Summary:

Regularly drinking more than the recommended UK guidelines for alcohol could take years off your life, according to new research from the University of Cambridge. The study shows that drinking more alcohol is associated with a higher risk of stroke, fatal aneurysm, heart failure and death.

Publication: Nature Communications

Stefan Gräf, Matthias Haimel, Marta Bleda, Charaka Hadinnapola, Laura Southgate, Wei Li, Joshua Hodgson, Bin Liu, Richard M. Salmon, Mark Southwood, Rajiv D. Machado, Jennifer M. Martin, Carmen M. Treacy, Katherine Yates, Louise C. Daugherty, Olga Shamardina, Deborah Whitehorn, Simon Holden, Micheala Aldred, Harm J. Bogaard, Colin Church, Gerry Coghlan, Robin Condliffe, Paul A. Corris, Cesare Danesino, Mélanie Eyries, Henning Gall, Stefano Ghio, Hossein-Ardeschir Ghofrani, J. Simon R. Gibbs, Barbara Girerd, Arjan C. Houweling, Luke Howard, Marc Humbert, David G. Kiely, Gabor Kovacs, Robert V. MacKenzie Ross, Shahin Moledina, David Montani, Michael Newnham, Andrea Olschewski, Horst Olschewski, Andrew J. Peacock, Joanna Pepke-Zaba, Inga Prokopenko, Christopher J. Rhodes, Laura Scelsi, Werner Seeger, Florent Soubrier, Dan F. Stein, Jay Suntharalingam, Emilia M. Swietlik, Mark R. Toshner, David A. van Heel, Anton Vonk Noordegraaf, Quinten Waisfisz, John Wharton, Stephen J. Wort, Willem H. Ouwehand, Nicole Soranzo, Allan Lawrie, Paul D. Upton, Martin R. Wilkins, Richard C. Trembath & Nicholas W. Morrell

Summary:

Pulmonary Arterial Hypertension (PAH) is a fatal lung disease and causes the walls of the arteries become thick and stiff, narrowing the space for blood to pass through and increasing blood pressure then leading to heart failure.

The disease kills 50% of those affected within five years, but little was known about what caused the condition in some people. Now experts say they have discovered five genes that cause the illness and could pave the way for more treatments.

Scientists carried out the largest ever genetic study of the disease by analysing the genomes – the unique sequence of a person’s DNA – of more than 1,000 PAH patients for whom the cause of the illness was unknown.

They found that mutations in five genes were responsible for causing the illness in these people, including in four genes that were not previously known to be involved in the disease. In people with the condition these genes fail to effectively produce the proteins that are required for the structure, function and regulation of the body’s tissues, researchers found.

Publication: Annals

Linda M. O’Keeffe, PhD; Anna Ramond, DPharm; Clare Oliver-Williams, PhD; Peter Willeit, MD; Ellie Paige, PhD; Patrick Trotter, MBChB; Jonathan Evans, MBChB; Jonas Wadström, MD; Michael Nicholson, MD; Dave Collett, PhD; Emanuele Di Angelantonio, MD

Summary:

Living kidney donors are not at increased risk for some health outcomes previously of concern, but do seem at risk for worse blood pressure and kidney function than nondonors. In addition, female donors seem to be at increased risk for preeclampsia.

A team lead by researchers reviewed 52 published studies comprising more than 100,000 living kidney donors and more than 110,000 nondonors to assess the mid- and long-term health risks associated with living kidney donation in adults.

The data showed that kidney donors had higher diastolic blood pressure, poorer renal function, and higher risk for ESRD than nondonors. Female donors had an almost two-fold higher risk than nondonors for pregnancy-related complications, such as preeclampsia.

There was no evidence that living kidney donors had higher risk for mortality, cardiovascular disease, or type 2 diabetes, or reduced quality of life.

Publication: Nature Cell Biology

Vasileios I. Floros, Angela Pyle, Sabine Dietmann, Wei Wei, Walfred W. C. Tang, Naoko Irie, Brendan Payne, Antonio Capalbo, Laila Noli, Jonathan Coxhead, Gavin Hudson, Moira Crosier, Henrik Strahl, Yacoub Khalaf, Mitinori Saitou, Dusko Ilic, M. Azim Surani & Patrick F. Chinnery

 15 Jan 2018; DOI: 10.1038/41556-017-0017-8

Summary:

Researchers have shown for the first time how children can inherit a severe – potentially fatal – mitochondrial disease from a healthy mother. The study reveals that healthy people harbour mutations in their mitochondrial DNA and explains how cases of severe mitochondrial disease can appear unexpectedly in previously unaffected families.

Mitochondrial diseases caused by mutations in mitochondrial DNA are rare, affecting approximately 1 in 10,000 births, but can cause severe conditions. Mitochondria are the powerhouses inside our cells, producing energy and carrying their own DNA instructions (separate from the DNA in the nucleus of every cell) and are inherited from a person’s mother via the egg.

In this study, the researchers found that a variety of mutations were present in the mitochondrial DNA in the developing egg cells of all 12 of the human embryos studied, showing that low levels of mitochondrial DNA mutations are carried by healthy humans.

Publication: Brain

Thomas E Cope, Timothy Rittman, Robin J Borchert, P Simon, JonesDeniz Vatansever, Kieren Allinson Luca Passamonti, Patricia Vazquez Rodriguez, W Richard Bevan-Jones, John T O’Brien, James B Rowe

Publication: J Neurol

Underwood BR, Green-Thompson ZW, Pugh PJ, Lazic SE, Mason SL4, Griffin J, Jones PS, Rowe JB, Rubinsztein DC7,4, Barker RA.

2017 Oct 26. doi: 10.1007/s00415-017-8647-0. [Epub ahead of print]

Publication: The Lancet Neurology

Prof Andrew I R Maas*,’Correspondence information about the author Prof Andrew I R MaasEmail the author Prof Andrew I R Maas, Prof David K Menon*,’Correspondence information about the author Prof David K MenonEmail the author Prof David K Menon, P David Adelson, Nada Andelic, Michael J Bell, Antonio Belli, Peter Bragge, Alexandra Brazinova, András Büki, Randall M Chesnut, Giuseppe Citerio, Mark Coburn, D Jamie Cooper, A Tamara Crowder, Endre Czeiter, Marek Czosnyka, Ramon Diaz-Arrastia, Jens P Dreier, Ann-Christine Duhaime, Ari Ercole, Thomas A van Essen, Valery L Feigin, Guoyi Gao, Joseph Giacino, Laura E Gonzalez-Lara, Russell L Gruen, Deepak Gupta, Jed A Hartings, Sean Hill, Ji-yao Jiang, Naomi Ketharanathan, Erwin J O Kompanje, Linda Lanyon, Steven Laureys, Fiona Lecky, Harvey Levin, Hester F Lingsma, Marc Maegele, Marek Majdan, Geoffrey Manley, Jill Marsteller, Luciana Mascia, Charles McFadyen, Stefania Mondello, Virginia Newcombe, Aarno Palotie, Paul M Parizel, Wilco Peul, James Piercy, Suzanne Polinder, Louis Puybasset, Todd E Rasmussen, Rolf Rossaint, Peter Smielewski, Jeannette Söderberg, Simon J Stanworth, Murray B Stein, Nicole von Steinbüchel, William Stewart, Ewout W Steyerberg, Nino Stocchetti, Anneliese Synnot, Braden Te Ao, Olli Tenovuo, Alice Theadom, Dick Tibboel, Walter Videtta, Kevin K W Wang, W Huw Williams, Lindsay Wilson, Kristine Yaffe for the show InTBIR Participants and Investigators

Publication: Proceedings of National Academy of Sciences

Deniz Vatansever, David K. Menon, and Emmanuel A. Stamatakis

Publication: Lancet

Schormair, B., Zhao, C., Bell, S. et al.

Lancet Neurology; 10th October 2017; DOI: 10.1016/S1474-4422(17)30327-7

Summary:

A new study into the genetics underlying restless legs syndrome has identified 13 previously-unknown genetic risk variants, while helping inform potential new treatment options for the condition.

Studies of families and twins have shown that there is a strong genetic component to the disorder and led to the discovery of six genetic variants that increased the risk of developing the condition.

Publication: Nature

Norah M. E. Fogarty, Afshan McCarthy, Kirsten E. Snijders, Benjamin E. Powell, Nada Kubikova, Paul Blakeley, Rebecca Lea, Kay Elder, Sissy E. Wamaitha, Daesik Kim, Valdone Maciulyte, Jens Kleinjung, Jin-Soo Kim, Dagan Wells, Ludovic Vallier, Alessandro Bertero10, James M. A. Turner & Kathy K. Niakan

Publication: The Lancet

Emanuele Di Angelantonio, Prof Simon G Thompson, Stephen Kaptoge, Carmel Moore, Matthew Walker, Prof Jane Armitage, Prof Willem H Ouwehand, Prof David J Roberts, Prof John Danesh

Publication: International Journal of Neuropsychopharmacology

Publication: Nature

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Lee JC, Biasci D, Roberts R, Gearry RB, Mansfield JC, Ahmad T, Prescott NJ, Satsangi J, Wilson DC, Jostins L, Anderson CA; UK IBD Genetics Consortium., Traherne JA, Lyons PA, Parkes M, Smith KG. 2017 Feb;49(2):262-268. doi: 10.1038/ng.3755.

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Lewis-Smith D, Kamer KJ, Griffin H, Childs A-M, Pysden K, Titov D, Duff J, Pyle A, Taylor RW, Yu-Wai-Man P, Ramesh V, Horvath R, Mootha VK, Chinnery PF. 2016: 2016 Mar 3;2(2):e59. PMID:27123478  PMCID: PMC4830195

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Keogh MJ, Wei W, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie C, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF 2017:27(1):165-173. PMID:28003435

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Hutchinson PJ, Kolias AG, Timofeev IS, Corteen E, Czosnyka M, Timothy J, Anderson I, Bulters DO, Belli A, Eynon CA, Wadley J, Mendelow AD, Mitchell PM, Wilson MH, Critchley G, Sahuquillo J, Unterberg A, Servadei F, Teasdale GM, Pickard JD, Menon DK, Murray GD, Kirkpatrick PJ 2016; 375:1119-1130

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Helmy A, Guilfoyle MR, Carpenter KL, Pickard JD, Menon DK, Hutchinson PJ 2016 Aug;36(8):1434-48.

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Giovannoni G, Cohen JA, Coles AJ, Hartung HP, Havrdova E, Selmaj KW, Margolin DH, Lake SL, Kaup SM, Panzara MA, Compston DA; CARE-MS II Investigators.. 2016 Nov 8;87(19):1985-1992. PubMed PMID: 27733571; PubMed Central PMCID: PMC5109953

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Fountain DM, Kolias AG, Lecky FE, Bouamra O, Lawrence T, Adams H, Bond SJ, Hutchinson PJ. 2016 Apr 4.

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Dendrou CA, Cortes A, Shipman L, Evans HG, Attfield KE, Jostins L, Barber T, Kaur G, Kuttikkatte SB, Leach OA, Desel C, Faergeman SL, Cheeseman J, Neville MJ, Sawcer S, Compston A, Johnson AR, Everett C, Bell JI, Karpe F, Ultsch M, Eigenbrot C, McVean G, Fugger L. 2016 Nov 2;8(363):363ra149. PMID: 27807284

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CADISS trial investigators, Markus HS, Hayter E, Levi C, Feldman A, Venables G, Norris J. 2015;14:361-7

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Arnold DL, Fisher E, Brinar VV, Cohen JA, Coles AJ, Giovannoni G, Hartung HP, Havrdova E, Selmaj KW, Stojanovic M, Weiner HL, Lake SL, Margolin DH, Thomas DR, Panzara MA, Compston DA; CARE-MS I and CARE-MS II Investigators 2016 Oct 4;87(14):1464-1472. PubMed PMID: 27590291; PubMed Central PMCID: PMC5075976

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Poole KE, Skingle L, Gee AH, Turmezei TD, Johannesdottir F, Blesic K, Rose C, Vindlacheruvu M, Donell S, Vaculik J, Dungl P, Horak M, Stepan JJ, Reeve J, Treece GM. 2016

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Joost Overduin, Tinh-Hai Collet, Nenad Medic, Elana Henning , Julia M. Keogh, Faye Forsyth, Cheryl Stephenson, Marja W. Kanning, Rianne M.A.J. Ruijschop, I. Sadaf Farooqi, Agatha A. van der Klaauw. 2016 Dec 1; 107: 596–603. pii: S0195-6663(16)30457-3.

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Agatha A. van der Klaauw, Julia M. Keogh, Elana Henning, Cheryl Stephenson, Sarah Kelway, Victoria M. Trowse, Naresh Subramanian, Stephen O’Rahilly, Paul C. Fletcher, I. Sadaf Farooqi. 2016 Oct 4;7:13055. doi: 10.1038/ncomms13055

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Tauschman M, Allen JM, Wilinska ME, Thabit H, Stewart Z, Cheng Z, Kollman C, Acerini CL, Dunger DB, Hovorka 2016 Jan 6. pii: dc152078.  PMID: 26740634

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Meek CL, Lewis HB, Vergese B, Park A, Reimann F, Gribble F. 2016 Mar;77:38-46

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Rowe ER, Mimmack ML, Barbosa AD, Haider A, Isaac I, Ouberai MM, Thiam AR, Patel S, Saudek V, Siniossoglou S, Savage DB 1-3. J . 2016;291(13):6664-78.

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Whitaker, K.J., Vértes, P.E., Romero-Garcia, R., Váša, F., Moutoussis, M., Prabhu, G., Weiskopf, N., Callaghan, M.F., Wagstyl, K., Rittman, T., Tait, R., Suckling, J., Ooi, C., Inkster, B., Fonagy, P., Dolan, R., Goodyer, I.M., Jones, P.B., the NSPN Consortium, Bullmore, E.T. 2016 , 113(32), pp.9105-9110.

Publication: Molecular Psychiatry

Kappelmann, N., Lewis, G., Dantzer, R., Jones, P.B. and Khandaker, G.M., 2016 Oct 18. doi: 10.1038/mp.2016.167

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Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium.; Deciphering Developmental Disorders Study.; NIHR BioResource Rare Diseases Consortium., Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. PMID:27992417

Publication: Nat Genet

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308

Publication: Brain

Nahorski MS, Asai M, Wakeling E, Parker A, Asai N, Canham N, Holder SE, Chen YC, Dyer J, Brady AF, Takahashi M, Woods CG 2016 Apr;139(Pt 4):1036-44. doi: 10.1093/brain/aww014 PMID: 26917597

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Shaikh SS, Chen YC, Halsall SA, Nahorski MS, Omoto K, Young GT, Phelan A, Woods CG. 2017 Jan;38(1):55-63. doi: 10.1002/humu.23123. PMID: 27676246

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Lee JY, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JY, McLean WH, Simpson MA, Parsons M, McGrath JA. 2017 Feb 2;100(2):364-370. doi: 10.1016/j.ajhg.2017.01.014. PMID: 28157540

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Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium., Webster AR, Raymond FL 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003 PMID:28041643

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MacKay, J.W., P.J. Murray, B. Kasmai, G. Johnson, S.T. Donell, and A.P. Toms. December 13, 2016. doi:10.1016/j.joca.2016.12.011.

Publication: PLoS One

Lawrence, E.M., A.Y. Warren, A.N. Priest, T. Barrett, D.A. Goldman, A.B. Gill, V.J. Gnanapragasam, E. Sala, and F.A. Gallagher. 11, no. 7 (2016): e0159652. doi:10.1371/journal.pone.0159652.

Publication: Circulation. Cardiovascular Imaging

Huang, Yuan, Zhongzhao Teng, Maysoon Elkhawad, Jason M. Tarkin, Nikhil Joshi, Jonathan R. Boyle, John R. Buscombe, et al. 9, no. 11 (November 2016). doi:10.1161/CIRCIMAGING.116.004656.

Publication: Eur Radiol

Hansen, N.L., B.C. Koo, F.A. Gallagher, A.Y. Warren, A. Doble, V. Gnanapragasam, O. Bratt, C. Kastner, and T. Barrett October 24, 2016. doi:10.1007/s00330-016-4635-5

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Hansen, Nienke L., Claudia Kesch, Tristan Barrett, Brendan Koo, Jan P. Radtke, David Bonekamp, Heinz-Peter Schlemmer, et al. November 10, 2016. doi:10.1111/bju.13711.

Publication: BJU International

Hansen, Nienke L., Tristan Barrett, Brendan Koo, Andrew Doble, Vincent Gnanapragasam, Anne Warren, Christof Kastner, and Ola Bratt August 4, 2016. doi:10.1111/bju.13619.

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Gnanapragasam, V.J., K. Burling, A. George, S. Stearn, A. Warren, T. Barrett, B. Koo, et al. 6 (October 17, 2016): 35364. doi:10.1038/srep35364.

Publication: NMR in Biomedicine

Daniels, Charlie J., Mary A. McLean, Rolf F. Schulte, Fraser J. Robb, Andrew B. Gill, Nicholas McGlashan, Martin J. Graves, et al. 2016, n/a-n/a. doi:10.1002/nbm.3468.

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Su L, Faluyi YO, Hong T, Fryer D, Mak E, Gabel S, Hayes L, Soteriades S, Williams GB, Arnold R, Passamonti L, Vazquez Rodirguez P, Surendranathan A, Bevan-Jones RW, Coles J, Aigbirhio F, Rowe JB, O’Brien JT 209(6): 525-526. doi: 10.1192

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Dichgans M, Williams J, Lewis CM, Markus HS; 2016 Feb 23. doi: 10.1002/ana.24621. PMCID: PMC4864940.

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Breen DP, Nombela C, Vuono R, Jones PS, Fisher K, Burn DJ, Brooks DJ, Reddy AB, Rowe JB, Barker RA. 2016 Jul;31(7):1062-6. doi: 10.1002/mds.26592. PMID: 26971528

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Williams-Gray CH, Wijeyekoon R, Yarnall AJ, Lawson RA, Breen DP, Evans JR, Cummins GA, Duncan GW, Khoo TK, Burn DJ, Barker RA; ICICLE-PD study group 2016 Jul;31(7):995-1003. doi: 10.1002/mds.26563. PMID: 26999434

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Evans JR, Cummins G, Breen DP, Foltynie T, Mason SL, Brayne CE, Williams-Gray CH, Barker RA. 2016 Sep;87(9):1034-6. doi: 10.1136/jnnp-2015-312581. PMID: 26800710

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Begeti F, Schwab LC, Mason SL, Barker RA. 2016 Sep;87(9):975-81. doi: 10.1136/jnnp-2015-312413. PMID: 26833174

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Huang Y, Teng Z, Elkhawad M, Tarkin JM, Joshi N, Boyle JR, Buscombe JR, Fryer TD, Zhang Y, Park AY, Wilkinson IB, Newby DE, Gillard JH, Rudd JH. 2016 Nov;9(11). pii: e004656. PMID: 27903534

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Irkle A, Vesey AT, Lewis DY, Skepper JN, Bird JL, Dweck MR, Joshi FR, Gallagher FA, Warburton EA, Bennett MR, Brindle KM, Newby DE, Rudd JH, Davenport AP. 2015 Jul 7;6:7495. doi: 10.1038/ncomms8495. PMID: 26151378

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Brown AJ, Obaid DR, Costopoulos C, Parker RA, Calvert PA, Teng Z, Hoole SP, West NE, Goddard M, Bennett MR. 2015 Oct;8(10):e003487. doi: 10.1161/CIRCIMAGING.115.003487. PMID: 26429760

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Brown AJ, Teng Z, Calvert PA, Rajani NK, Hennessy O, Nerlekar N, Obaid DR, Costopoulos C, Huang Y, Hoole SP, Goddard M, West NE, Gillard JH, Bennett MR. 2016 Jun;9(6). pii: e004172. doi: 10.1161/CIRCIMAGING.115.004172. PMID: 27307548

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Loutsios C, Farahi N, Simmonds R, Cullum I, Gillett D, Solanki C, Solanki K, Buscombe J, Condliffe AM, Peters AM, Chilvers ER. 2015 Nov;70(11):1085-6. doi: 10.1136/thoraxjnl-2015-207156. PMID: 26108571

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Juss JK, House D, Amour A, Begg M, Herre J, Storisteanu DM, Hoenderdos K, Bradley G, Lennon M, Summers C, Hessel EM, Condliffe A, Chilvers ER. 2016 Oct 15;194(8):961-973. PMID: 27064380

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Long L, Ormiston ML, Yang X, Southwood M, Gräf S, Machado RD, Mueller M, Kinzel B, Yung LM, Wilkinson JM, Moore SD, Drake KM, Aldred MA, Yu PB, Upton PD, Morrell NW. 2015 Jul;21(7):777-85. doi: 10.1038/nm.3877. PMID: 26076038

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Evans JD, Girerd B, Montani D, Wang XJ, Galiè N, Austin ED, Elliott G, Asano K, Grünig E, Yan Y, Jing ZC, Manes A, Palazzini M, Wheeler LA, Nakayama I, Satoh T, Eichstaedt C, Hinderhofer K, Wolf M, Rosenzweig EB, Chung WK, Soubrier F, Simonneau G, Sitbon O, Gräf S, Kaptoge S, Di Angelantonio E, Humbert M, Morrell NW. 2016 Feb;4(2):129-37. doi: 10.1016/S2213-2600(15)00544-5. PMID: 26795434

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Cowburn AS, Crosby A, Macias D, Branco C, Colaço RD, Southwood M, Toshner M, Crotty Alexander LE, Morrell NW, Chilvers ER, Johnson RS. 2016 Aug 2;113(31):8801-6. doi: 10.1073/pnas.1602978113.

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Siu LL, Lawler M, Haussler D, Knoppers BM, Lewin J, Vis DJ, Liao RG, Andre F, Banks I, Barrett JC, Caldas C, Camargo AA, Fitzgerald RC, Mao M, Mattison JE, Pao W, Sellers WR, Sullivan P, Teh BT, Ward RL, ZenKlusen JC, Sawyers CL, Voest EE

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Secrier M, Li X, de Silva N, Eldridge MD, Contino G, Bornschein J, MacRae S, Grehan N, O’Donovan M, Miremadi A, Yang TP, Bower L, Chettouh H, Crawte J, Galeano-Dalmau N, Grabowska A, Saunders J, Underwood T, Waddell N, Barbour AP, Nutzinger B, Achilleos A, Edwards PA, Lynch AG, Tavare S, Fitzgerald RC

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Sciacovelli M, Goncalves E, Johnson TI, Zecchini VR, da Costa AS, Gaude E, Drubbel AV, Theobald SJ, Abbo SR, Tran MG, Rajeeve V, Cardaci S, Foster S, Yun H, Cutillas P, Warren A, Gnanapragasam V, Gottlieb E, Franze K, Huntly B, Maher ER, Maxwell PH, Saez-Rodriguez J, Frezza C

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Rini BI, Stenzl A, Zdrojowy R, Kogan M, Shkolnik M, Oudard S, Weikert S, Bracarda S, Crabb SJ, Bedke J, Ludwig J, Maurer D, Mendrzyk R, Wagner C, Mahr A, Fritsche J, Weinschenk T, Walter S, Kirner A, Singh-Jasuja H, Reinhardt C, Eisen T

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Nik-Zainal S, Davies H, Staaf J, Ramakrishna M, Glodzik D, Zou X, Martincorena I, Alexandrov LB, Martin S, Wedge DC, Van Loo P, Ju YS, Smid M, Brinkman AB, Morganella S, Aure MR, Lingj√¶rde OC, Langer√∏d A, Ringn√©r M, Ahn SM, Boyault S, Brock JE, Broeks A, Butler A, Desmedt C, Dirix L, Dronov S, Fatima A, Foekens JA, Gerstung M, Hooijer GK, Jang SJ, Jones DR, Kim HY, King TA, Krishnamurthy S, Lee HJ, Lee JY, Li Y, McLaren S, Menzies A, Mustonen V, O’Meara S, Pauport√© I, Pivot X, Purdie CA, Raine K, Ramakrishnan K, Rodr√≠guez-Gonz√°lez FG, Romieu G, Sieuwerts AM, Simpson PT, Shepherd R, Stebbings L, Stefansson OA, Teague J, Tommasi S, Treilleux I, Van den Eynden GG, Vermeulen P, Vincent-Salomon A, Yates L, Caldas C, van’t Veer L, Tutt A, Knappskog S, Tan BK, Jonkers J, Borg √Ö, Ueno NT, Sotiriou C, Viari A, Futreal PA, Campbell PJ, Span PN, Van Laere S, Lakhani SR, Eyfjord JE, Thompson AM, Birney E, Stunnenberg HG, van de Vijver MJ, Martens JW, B√∏rresen-Dale AL, Richardson AL, Kong G, Thomas G, Stratton MR.

2016. 534(7605):47-54

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Galloway A, Saveliev A, Lukasiak S, Hodson DJ, Bolland D, Balmanno K, Ahlfors H, Monzon-Casanova E, Mannurita SC, Bell LS, Andrews S, Diaz-Munoz MD, Cook SJ, Corcoran A, Turner M 352(6284):453-9

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Parkinson CA, Gale D, Piskorz AM, Biggs H, Hodgkin C, Addley H, Freeman S, Moyle P, Sala E, Sayal K, Hosking K,  Gounaris I,  Jimenez-Linan M, Earl HM, Qian W, Rosenfeld N, Brenton JD 2016. 13(12):e1002198

Publication: The Lancet Oncology

Gharahkhani P, Fitzgerald RC, Vaughan TL, Palles C, Gockel I, Tomlinson I, Buas MF, May A, Gerges C, Anders M, Becker J, Kreuser N, Noder T, Venerito M, Veits L, Schmidt T, Manner H, Schmidt C, Hess T, Bohmer AC, Izbicki JR, Holscher AH, Lang H, Lorenz D, Schumacher B, Hackelsberger A, Mayershofer R, Pech O, Vashist Y, Ott K, Vieth M, Weismuller J, Nothen MM, Attwood S, Barr H, Chegwidden L, de Caestecker J, Harrison R, Love SB, MacDonald D, Moayyedi P, Prenen H, Watson RG, Iyer PG, Anderson LA, Bernstein L, Chow WH, Hardie LJ, Lagergren J, Liu G, Risch HA, Wu AH, Ye W, Bird NC, Shaheen NJ, Gammon MD, Corley DA, Caldas C, Moebus S, Knapp M, Peters WH, Neuhaus H, Rosch T, Ell C, MacGregor S, Pharoah P, Whiteman DC, Jankowski J, Schumacher J

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Publication: Cell

Bruna A, Rueda OM, Greenwood W, Batra AS, Callari M, Batra RN, Pogrebniak K, Sandoval J, Cassidy JW, Tufegdzic-Vidakovic A, Sammut SJ, Jones L, Provenzano E, Baird R, Eirew P, Hadfield J, Eldridge M, McLaren-Douglas A, Barthorpe A, Lightfoot H, O’Connor MJ, Gray J, Cortes J, Baselga J, Marangoni E, Welm AL, Aparicio S, Serra V, Garnett MJ, Caldas C

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Publication: Nat Genet

Wong VK, Baker S, Pickard DJ, Parkhill J, Page AJ, Feasey NA, Kingsley RA, Thomson NR, Keane JA, Weill FX, Edwards DJ, Hawkey J, Harris SR, Mather AE, Cain AK, Hadfield J, Hart PJ, Thieu NT, Klemm EJ, Glinos DA, Breiman RF, Watson CH, Kariuki S, Gordon MA, Heyderman RS, Okoro C, Jacobs J, Lunguya O, Edmunds WJ, Msefula C, Chabalgoity JA, Kama M, Jenkins K, Dutta S, Marks F, Campos J, Thompson C, Obaro S, MacLennan CA, Dolecek C, Keddy KH, Smith AM, Parry CM, Karkey A, Mulholland EK, Campbell JI, Dongol S, Basnyat B, Dufour M, Bandaranayake D, Naseri TT, Singh SP, Hatta M, Newton P, Onsare RS, Isaia L, Dance D, Davong V, Thwaites G, Wijedoru L, Crump JA, De Pinna E, Nair S, Nilles EJ, Thanh DP, Turner P, Soeng S, Valcanis M, Powling J, Dimovski K, Hogg G, Farrar J, Holt KE, Dougan G. 2015 May 11. doi: 10.1038/ng.3281.

Publication: Nat Genet

von Mentzer A, Connor TR, Wieler LH, Semmler T, Iguchi A, Thomson NR, Rasko DA, Joffre E, Corander J, Pickard D, Wiklund G, Svennerholm AM, Sjöling A, Dougan G. Identification of enterotoxigenic Escherichia coli (ETEC) clades with long-term global distribution. 2014 Nov 10.

Publication: Nat Genet

He M, Miyajima F, Roberts P, Ellison L, Pickard DJ, Martin MJ, Connor TR, Harris SR, Fairley D, Bamford KB, D’Arc S, Brazier J, Brown D, Coia JE, Douce G, Gerding D, Kim HJ, Koh TH, Kato H, Senoh M, Louie T, Michell S, Butt E, Peacock SJ, Brown NM, Riley T, Songer G, Wilcox M, Pirmohamed M, Kuijper E, Hawkey P, Wren BW, Dougan G, Parkhill J, Lawley TD 2012 16:109-13.

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Lawley TD, Clare S, Walker AW, Stares MD, Connor TR, Raisen C, Goulding D, Rad R, Schreiber F, Brandt C, Deakin LJ, Pickard DJ, Duncan SH, Flint HJ, Clark TG, Parkhill J, Dougan G. 2012 8: e1002995.

Publication: Nat Genet

Okoro CK, Kingsley RA, Connor TR, Harris SR, Parry CM, Al-Mashhadani MN, Kariuki S, Msefula CL, Gordon MA, de Pinna E, Wain J, Heyderman RS, Obaro S, Alonso PL, Mandomando I, Maclennan CA, Tapia MD, Levine MM, Tennant SM, Parkhill J, Dougan G. 2012 44:1215-21.

Publication: Nature

Mutreja A, Kim DW, Thomson NR, Connor TR, Lee JH, Kariuki S, Croucher NJ, Choi SY, Harris SR, Lebens M, Niyogi SK, Kim EJ, Ramamurthy T, Chun J, Wood JL, Clemens JD, Czerkinsky C, Nair GB, Holmgren J, Parkhill J, Dougan G. Evidence for several waves of global transmission in the seventh cholera pandemic. Nature. 2011 Aug 24 Published 22^nd September..

Publication: Nature Genetics

Holt K.E., Parkhill J., Mazzoni C.J., Roumagnac P., Weill F-X., Goodhead I., Rance R., Baker S., Maskell D., Wain J., Dolecek C., Achtman M. and Dougan. 2008. 40, 987-993.

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Mastroeni P., Vazquez-Torres A., Fang F., Xu Y., Khan S., Hormaeche C.E., and G. Dougan. 2000.  J. Exp. Med. 192, 237-247.

Publication: Translational Neuropsychopharmacology

Barnett JH, Blackwell AD, Sahakian BJ & Robbins TW (2016). In: Robbins TW, Sahakian BJ (Eds). Current Topics in Behavioral Neurosciences: Translational Neuropsychopharmacology. DOI: 10.1007/7854_2015_5001.

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Mirshekar-Syahkal B, Summers D, Bradbury LL, Aly M, Bardsley V, Berry M, Norris JM, Torpey N, Clatworthy MR, Bradley JA, Pettigrew GJ. Local Expansion of Donation After Circulatory Death Kidney Transplant Activity Improves Waitlisted Outcomes and Addresses Inequities of Access to Transplantation. Am J Transplant. 2017 Feb;17(2):390-400. DOI: 10.1111/ajt.13968

Publication: Eur Radiol

Bedair, R., A.N. Priest, A.J. Patterson, M.A. McLean, M.J. Graves, R. Manavaki, A.B. Gill, O. Abeyakoon, J.R. Griffiths, and F.J. Gilbert.

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Gaccioli F, Lager S, Sovio U, Charnock-Jones DS, Smith GCS.

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Adams, J., Mytton, O., White, M., and Monsivais, P. (2016) PLoS Medicine 13, e1001990. PMID:27046234.

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Azzopardi L, Cox AL, McCarthy CL, Jones JL, Coles AJ.. J 2016 Jan;263(1):25-9. PubMed PMID: 26477020. Open Access repository Univ of Cambridge.  

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2016 Jun 30. doi: 10.1111/cen.13149. [Epub ahead of print]

Nicholas AK, Jaleel S, Lyons G, Schoenmakers E, Dattani MT, Crowne E, Bernhard B, Kirk J, Roche EF, Chatterjee VK, Schoenmakers N. 

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Ersche, K.D., Gillan, C.M., Jones, P.S., Williams, G.B., Ward, L.H., Luijten, M., de Wit, S., Sahakian, B.J., Bullmore, E.T. and Robbins, T.W., 2016.. Science, 352(6292), pp.1468-1471.

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Sciacovelli M, Gonçalves E, Johnson TI, Zecchini VR, da Costa AS, Gaude E, Drubbel AV, Theobald SJ, Abbo SR, Tran MG, Rajeeve V, Cardaci S, Foster S, Yun H, Cutillas P, Warren A, Gnanapragasam V, Gottlieb E, Franze K, Huntly B, Maher ER, Maxwell PH, Saez-Rodriguez J, Frezza C.

Nature. 2016 Aug 31;537(7621):544-547. doi: 10.1038/nature19353.

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Molecular Diversity of Midbrain Development in Mouse, Human, and Stem Cells. La Manno G, Gyllborg D, Codeluppi S, Nishimura K, Salto C, Zeisel A, Borm LE, Stott SR, Toledo EM, Villaescusa JC, Lönnerberg P, Ryge J, Barker RA, Arenas E, Linnarsson S. Cell. 2016 Oct 6;167(2):566-580.e19. doi: 10.1016/j.cell.2016.09.027. PMID: 27716510 [PubMed – in process] Free PMC Article

Publication: The Lancet Oncology

Armstrong AJ, Halabi S, Eisen T, Broderick S, Stadler WM, Jones RJ, Garcia JA, Vaishampayan UN, Picus J, Hawkins RE, Hainsworth JD, Kollmannsberger CK, Logan TF, Puzanov I, Pickering LM, Ryan CW, Protheroe A, Lusk CM, Oberg S, George DJ

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Parkhill J., Dougan G., James K.D., Thomson N.R., Pickard D., Wain J., Churcher C., Mungall K.L., Bentley S.D., Holden M.T.G., Sebaihia M., Baker S., Basham D., Brooks K., Chillingworth T., Connerton P., Cronin A., Davis P., Davies R.M., Dowd L., White N., Farrar J., Feltwell T., Hamlin N., Haque A., Hien T.T., Holroyd S., Jagels K., Krogh A., Larson T.S., Leather S., Moule S., O’Goara P., Parry C., Quail M., Rutherford K., Simmonds M., Skelton J., Stevens K., Whitehead S. and B.G Barrell. 2001. Nature. 413, 848-853.

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Hurst LA, Dunmore BJ, Long L, Crosby A, Al-Lamki R, Deighton J, Southwood M, Yang X, Nikolic MZ, Herrera B, Inman GJ, Bradley JR, Rana AA, Upton PD, Morrell NW.

Publication: Cell 2016

Astle WJ, Elding H, Jiang T, Allen D, Ruklisa D, Mann AL, Mead D, Bouman H, Riveros-Mckay F, Kostadima MA, Lambourne JJ, Sivapalaratnam S, Downes K, Kundu K, Bomba L, Berentsen K, Bradley JR, Daugherty LC, Delaneau O, Freson K, Garner SF, Grassi L, Guerrero J, Haimel M, Janssen-Megens EM, Kaan A, Kamat M, Kim B, Mandoli A, Marchini J, Martens JH, Meacham S, Megy K, O’Connell J, Petersen R, Sharifi N, Sheard SM, Staley JR, Tuna S, van der Ent M, Walter K, Wang SY, Wheeler E, Wilder SP, Iotchkova V, Moore C, Sambrook J, Stunnenberg HG, Di Angelantonio E, Kaptoge S, Kuijpers TW, Carrillo-de-Santa-Pau E, Juan D, Rico D, Valencia A, Chen L, Ge B, Vasquez L, Kwan T, Garrido-Martín D, Watt S, Yang Y, Guigo R, Beck S, Paul DS, Pastinen T, Bujold D, Bourque G, Frontini M, Danesh J, Roberts DJ, Ouwehand WH, Butterworth AS, Soranzo N.

Publication: Lancet 2016

Di Angelantonio E, Bhupathiraji SN, Wormser D, Gao P, Kaptoget S, Berrington de Gonzalez A, Cairns BJ, Huxley R, Jackson CL, Joshy G, Lewington S, Manson JE, Murphy N, Patel AV, Samet JM, Woodward M, Zheng W, Zhou M, Bansal N, Barricarte A, Carter B, Cerhan JR, Collins R, Davey Smith G, Franco OH, Green J, Halsey J, Hildebrand JS, Jung KJ, Korda RJ, McLerran DF, Moore SC, O’Keeffe LM, Paige E, Ramond A, Reeves GK, Rolland B, Sacerdote C, Sattar N, Sofanopoulou E,Stevens J, Thun M, Ueshima H, Yang L, Duk Yun Y, Willeit P, Banks E, Beral V, Chen Z, Gapstur SM, Gunter MJ, Hartge P, Jee SH, Lam T-H, Peto R, Potter JD, Willet WC, Thompson SG, Danesh J*, Hu FB*.

Publication: Lancet Diabetes Endocrinol 2016

Willeit P, Kaptoge S, Welsh P, Butterworth AS, Chowdury R, Spackman S, Pennells L,Gao P, Burgess S, Freitag DF, Sweeting M, Wood AM, Cook NR, Judd S, Trompet S, Nambi V, Hecht Olsen M, Everett BM, Kee F, Ärnlöv J, Salomaa V, Levy D, Kauhanen J, Laukkanen JA, Kavousi M, Ninomiya T, Casas J-P, Daniels LB, Lind L, Kistorp CN, Rosenberg J, Mueller T, Rubattu S, Panagiotakos DB, Franco OH, de Lemos JA, Luchner A, St Marien K, Kizer JR, Kiechl S, Salonen JT, Wannamethee SG, Nordestgaard BG, Anderson J, Jørgensen T, Melander O, Ballantyne CM, DeFilippi C, Ridker PM, Cushman M, Rosamond WD, Thompson SG, Gudnason V, Sattar N, Danesh J, Di Angelantonio E.

Publication: Nat Genet 2016

Surendran P, Drenos F, Young R, Warren H, Cook JP, Manning AK, Grarup N, Sim X, Barnes DR, Witkowska K, Staley JR, Tragante V, Tukiainen T, Yaghootkar H, Masca N, Freitag DF, Ferreira T, Giannakopoulou O, Tinker A, Harakalova M, Mihailov E, Liu C, Kraja AT, Nielsen SF, Rasheed A, Samuel M, Zhao W, Bonnycastle LL, Jackson AU, Narisu N, Swift AJ, Southam L, Marten J, Huyghe JR, Stančáková A, Fava C, Ohlsson T, Matchan A, Stirrups KE, Bork-Jensen J, Gjesing AP, Kontto J, Perola M, Shaw-Hawkins S, Havulinna AS, Zhang H, Donnelly LA, Groves CJ, Rayner NW, Neville MJ, Robertson NR, Yiorkas AM, Herzig KH, Kajantie E, Zhang W, Willems SM, Lannfelt L, Malerba G, Soranzo N, Trabetti E, Verweij N, Evangelou E, Moayyeri A, Vergnaud AC, Nelson CP, Poveda A, Varga TV, Caslake M, de Craen AJ, Trompet S, Luan J, Scott RA, Harris SE, Liewald DC, Marioni R, Menni C, Farmaki AE, Hallmans G, Renström F, Huffman JE, Hassinen M, Burgess S, Vasan RS, Felix JF; CHARGE-Heart Failure Consortium, Uria-Nickelsen M, Malarstig A, Reilly DF, Hoek M, Vogt TF, Lin H, Lieb W; EchoGen Consortium, Traylor M, Markus HS; METASTROKE Consortium, Highland HM, Justice AE, Marouli E; GIANT Consortium, Lindström J, Uusitupa M, Komulainen P, Lakka TA, Rauramaa R, Polasek O, Rudan I, Rolandsson O, Franks PW, Dedoussis G, Spector TD; EPIC-InterAct Consortium, Jousilahti P, Männistö S, Deary IJ, Starr JM, Langenberg C, Wareham NJ, Brown MJ, Dominiczak AF, Connell JM, Jukema JW, Sattar N, Ford I, Packard CJ, Esko T, Mägi R, Metspalu A, de Boer RA, van der Meer P, van der Harst P; Lifelines Cohort Study, Gambaro G, Ingelsson E, Lind L, de Bakker PI, Numans ME, Brandslund I, Christensen C, Petersen ER, Korpi-Hyövälti E, Oksa H, Chambers JC, Kooner JS, Blakemore AI, Franks S, Jarvelin MR, Husemoen LL, Linneberg A, Skaaby T, Thuesen B, Karpe F, Tuomilehto J, Doney AS, Morris AD, Palmer CN, Holmen OL, Hveem K, Willer CJ, Tuomi T, Groop L, Käräjämäki A, Palotie A, Ripatti S, Salomaa V, Alam DS, Majumder AA, Di Angelantonio E, Chowdhury R, McCarthy MI, Poulter N, Stanton AV, Sever P, Amouyel P, Arveiler D, Blankenberg S, Ferrières J, Kee F, Kuulasmaa K, Müller-Nurasyid M, Veronesi G, Virtamo J, Deloukas P; Wellcome Trust Case Control Consortium, Elliott P; Understanding Society Scientific Group, Zeggini E, Kathiresan S, Melander O, Kuusisto J, Laakso M, Padmanabhan S, Porteous DJ, Hayward C, Scotland G, Collins FS, Mohlke KL, Hansen T, Pedersen O, Boehnke M, Stringham HM; EPIC-CVD Consortium, Frossard P, Newton-Cheh C; CHARGE+ Exome Chip Blood Pressure Consortium, Tobin MD, Nordestgaard BG; T2D-GENES Consortium; GoT2DGenes Consortium; ExomeBP Consortium; CHD Exome+ Consortium, Caulfield MJ, Mahajan A, Morris AP, Tomaszewski M, Samani NJ, Saleheen D, Asselbergs FW, Lindgren CM, Danesh J, Wain LV, Butterworth AS, Howson JM, Munroe PB.

Publication: Science 2016

Zanoni P, Khetarpal SA, Larach DB, Hancock-Cerutti WF, Millar JS, Cuchel M, DerOhannessian S, Kontush A, Surendran P, Saleheen D, Trompet S, Jukema JW, De Craen A, Deloukas P, Sattar N, Ford I, Packard C, Majumder Aa, Alam DS, Di Angelantonio E, Abecasis G, Chowdhury R, Erdmann J, Nordestgaard BG, Nielsen SF, Tybjærg-Hansen A, Schmidt RF, Kuulasmaa K, Liu DJ, Perola M, Blankenberg S, Salomaa V, Männistö S, Amouyel P, Arveiler D, Ferrieres J, Müller-Nurasyid M, Ferrario M, Kee F, Willer CJ, Samani N, Schunkert H, Butterworth AS, Howson JM, Peloso GM, Stitziel NO, Danesh J, Kathiresan S, Rader DJ; CHD Exome+ Consortium; CARDIoGRAM Exome Consortium; Global Lipids Genetics Consortium.