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Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Na Zhu, Emilia M Swietlik, Carrie L Welch, Michael W Pauciulo, Jacob J Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A Lutz, Jennifer M Martin, Carmen M Treacy, Erika B Rosenzweig, Usha Krishnan, Anna W Coleman, Claudia Gonzaga-Jauregui, Allan Lawrie, Richard C Trembath, Martin R Wilkins, Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research - Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, Nicholas W Morrell, Yufeng Shen, Stefan Gräf, William C Nichols, Wendy K Chung
Jul 28, 2021
BACKGROUND: Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and heart...
Case-control association testing De novo variant analysis Exome Sequencing Genetics genome sequencing pulmonary arterial hypertension Adolescent Adult Age of Onset Aged Alleles Amino Acid Substitution Biomarkers Calcium-Binding Proteins Child Child Preschool Extracellular Matrix Proteins Female Genetic Predisposition to Disease genetic variation Genotype Humans Lymphokines Male Middle Aged Mutation Phenotype Platelet-Derived Growth Factor Population Surveillance pulmonary arterial hypertension United Kingdom United States Young Adult
Identifying dementia outcomes in UK Biobank
Tim Wilkinson, Christian Schnier, Kathryn Bush, Kristiina Rannikmäe, David E Henshall, Chris Lerpiniere, Naomi E Allen, Robin Flaig, Tom C Russ, Deborah Bathgate, Suvankar Pal, John T O'Brien, Cathie LM Sudlow, Dementias Platform UK and UK Biobank
Mar 06, 2019
Prospective, population-based studies that recruit participants in mid-life are valuable resources for dementia research. Follow-up in these studies is often through linkage to routinely-collected healthcare datasets. We...
Best practices for multi-ancestry, meta-analytic transcriptome-wide association studies
Arjun Bhattacharya, Jibril B Hirbo, Dan Zhou, Wei Zhou, Jie Zheng, Masahiro Kanai, Global Biobank Meta-analysis Initiative, Bogdan Pasaniuc, Eric R Gamazon, Nancy J Cox
Dec 08, 2022
The Global Biobank Meta-analysis Initiative (GBMI), through its diversity, provides a valuable opportunity to study population-wide and ancestry-specific genetic associations. However, with multiple ascertainment strategies and...
Variation in Structure and Process of Care in Traumatic Brain Injury
Maryse C Cnossen, Suzanne Polinder, Hester F Lingsma, Andrew IR Maas, David Menon, Ewout W Steyerberg, CENTER-TBI Investigators and Participants
Jun 19, 2018
INTRODUCTION: The strength of evidence underpinning care and treatment recommendations in traumatic brain injury (TBI) is low. Comparative effectiveness research (CER) has been proposed as a framework to provide evidence for...
Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts.
Ying Wang, Shinichi Namba, Esteban Lopera, Sini Kerminen, Kristin Tsuo, Kristi Läll, Masahiro Kanai, Wei Zhou, Kuan-Han Wu, Marie-Julie Favé, Laxmi Bhatta, Philip Awadalla, Ben Brumpton, Patrick Deelen, Kristian Hveem, Valeria Lo Faro, Reedik Mägi, Yoshinori Murakami, Serena Sanna, Jordan W Smoller, Jasmina Uzunovic, Brooke N Wolford, Global Biobank Meta-analysis Initiative, Cristen Willer, Eric R Gamazon, Nancy J Cox, Ida Surakka, Yukinori Okada, Alicia R Martin, Jibril Hirbo
Mar 16, 2023
Polygenic risk scores (PRSs) have been widely explored in precision medicine. However, few studies have thoroughly investigated their best practices in global populations across different diseases. We here utilized data from...
Brain death and postmortem organ donation
Ernest van Veen, Mathieu van der Jagt, Maryse C Cnossen, Andrew IR Maas, Inez D de Beaufort, David K Menon, Giuseppe Citerio, Nino Stocchetti, Wim JR Rietdijk, Jeroen TJM van Dijck, Erwin JO Kompanje, CENTER-TBI Investigators and Participants
Apr 14, 2020
BACKGROUND: We aimed to investigate the extent of the agreement on practices around brain death and postmortem organ donation. METHODS: Investigators from 67 Collaborative European NeuroTrauma Effectiveness Research in Traumatic...
Investigation of associations between retinal microvascular parameters and albuminuria in UK Biobank
Euan N Paterson, Chris Cardwell, Thomas J MacGillivray, Emanuele Trucco, Alexander S Doney, Paul Foster, Alexander P Maxwell, Gareth J McKay, UK Biobank Eye and Vision Consortium
May 10, 2021
BACKGROUND: Associations between microvascular variation and chronic kidney disease (CKD) have been reported previously. Non-invasive retinal fundus imaging enables evaluation of the microvascular network and may offer insight...
Variation in Blood Transfusion and Coagulation Management in Traumatic Brain Injury at the Intensive Care Unit
Jilske A Huijben, Mathieu van der Jagt, Maryse C Cnossen, Marieke JHA Kruip, Iain K Haitsma, Nino Stocchetti, Andrew IR Maas, David K Menon, Ari Ercole, Marc Maegele, Simon J Stanworth, Giuseppe Citerio, Suzanne Polinder, Ewout W Steyerberg, Hester F Lingsma, CENTER-TBI Investigators and Participants
Mar 07, 2018
Our aim was to describe current approaches and to quantify variability between European intensive care units (ICUs) in patients with traumatic brain injury (TBI). Therefore, we conducted a provider profiling survey as part of...
Whole Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome.
Christopher J Rhodes, Pablo Otero-Núñez, John Wharton, Emilia M Swietlik, Sokratis Kariotis, Lars Harbaum, Mark J Dunning, Jason M Elinoff, Niamh Errington, AA Roger Thomson, James Iremonger, J Gerry Coghlan, Paul A Corris, Luke S Howard, David G Kiely, Colin Church, Joanna Pepke-Zaba, Mark Toshner, Stephen J Wort, Ankit A Desai, Marc Humbert, William C Nichols, Laura Southgate, David-Alexandre Trégouët, Richard C Trembath, Inga Prokopenko, Stefan Gräf, Nicholas W Morrell, Dennis Wang, Allan Lawrie, Martin R Wilkins, NIHR BioResource – Rare Diseases PAH Consortium and the UK National PAH Cohort Study Consortium
Jul 29, 2020
RATIONALE: Idiopathic and hereditary pulmonary arterial hypertension (PAH) are rare but comprise a genetically heterogeneous patient group. RNA-sequencing linked to the underlying genetic architecture can be used to better...
Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.
Previous studies have suggested that naturally occurring genetic variation contributes to the risk of astigmatism. The purpose of this investigation was to identify genetic markers associated with corneal and refractive...
Astigmatism Biological Specimen Banks Cornea Corneal Diseases Female Genetic Predisposition to Disease Genome-Wide Association Study Guanine Nucleotide Exchange Factors Humans Male Middle Aged Myopia Nuclear Proteins Polymorphism Single Nucleotide Ubiquitin-Protein Ligases United Kingdom White People
Genetic map of regional sulcal morphology in the human brain from UK biobank data.
Benjamin B Sun, Stephanie J Loomis, Fabrizio Pizzagalli, Natalia Shatokhina, Jodie N Painter, Christopher N Foley, Biogen Biobank Team, Megan E Jensen, Donald G McLaren, Sai Spandana Chintapalli, Alyssa H Zhu, Daniel Dixon, Tasfiya Islam, Iyad Ba Gari, Heiko Runz, Sarah E Medland, Paul M Thompson, Neda Jahanshad, Christopher D Whelan
Oct 14, 2022
Genetic associations with macroscopic brain structure can provide insights into brain function and disease. However, specific associations with measures of local brain folding are largely under-explored. Here, we conducted...
Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension.
Anna Ulrich, Pablo Otero-Núñez, John Wharton, Emilia M Swietlik, Stefan Gräf, Nicholas W Morrell, Dennis Wang, Allan Lawrie, Martin R Wilkins, Inga Prokopenko, Christopher J Rhodes, On Behalf Of The Nihr BioResource-Rare Diseases Consortium, UK PAH Cohort Study Consortium
Jan 08, 2021
Expression quantitative trait loci (eQTL) can provide a link between disease susceptibility variants discovered by genetic association studies and biology. To date, eQTL mapping studies have been primarily conducted in healthy...
Blood eQTL expression quantitative trait locus Genetics pulmonary arterial hypertension Base Sequence Familial Primary Pulmonary Hypertension Female Genetic Association Studies Genetic Predisposition to Disease Genome Genome-Wide Association Study Humans Male Polymorphism Single Nucleotide pulmonary arterial hypertension Quantitative Trait Loci Sequence Analysis RNA Transcriptome
Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension
Anna Ulrich, Pablo Otero-Núñez, John Wharton, Emilia M. Swietlik, Stefan Gräf, Nicholas W. Morrell, Dennis Wang, Allan Lawrie, Martin R. Wilkins, Inga Prokopenko, Christopher J. Rhodes, on behalf of The NIHR BioResource—Rare Diseases Consortium, UK PAH Cohort Study Consortium
Oct 23, 2020
Expression quantitative trait loci (eQTL) can provide a link between disease susceptibility variants discovered by genetic association studies and biology. To date, eQTL mapping studies have been primarily conducted in healthy...
Business Continuity in Data Centers and Seismic Isolation Applications
M. Esen
Jan 01, 2022
Economic losses from earthquakes raised many questions regarding the adequacy of the current seismic design and seismic isolation in data centers. Organizations accommodated new explicit seismic isolation applications in their...
Published by: IGI Global Scientific Publishing
Using UK Biobank for sexual minority health research
Aim: Despite poorer health and healthcare outcomes experienced by lesbian, gay and bisexual adults, data for research to characterize and address these disparities remain limited. Patients & methods: We describe sexual history...
Variation in neurosurgical management of traumatic brain injury
Thomas A van Essen, Hugo F den Boogert, Maryse C Cnossen, Godard CW de Ruiter, Iain Haitsma, Suzanne Polinder, Ewout W Steyerberg, David Menon, Andrew IR Maas, Hester F Lingsma, Wilco C Peul, CENTER-TBI Investigators and Participants
Apr 09, 2020
BACKGROUND: Neurosurgical management of traumatic brain injury (TBI) is challenging, with only low-quality evidence. We aimed to explore differences in neurosurgical strategies for TBI across Europe. METHODS: A survey was sent...
Genetic map of regional sulcal morphology in the human brain from UK biobank data.
Benjamin B Sun, Stephanie J Loomis, Fabrizio Pizzagalli, Natalia Shatokhina, Jodie N Painter, Christopher N Foley, Biogen Biobank Team, Megan E Jensen, Donald G McLaren, Sai Spandana Chintapalli, Alyssa H Zhu, Daniel Dixon, Tasfiya Islam, Iyad Ba Gari, Heiko Runz, Sarah E Medland, Paul M Thompson, Neda Jahanshad, Christopher D Whelan
Nov 16, 2022
Genetic associations with macroscopic brain structure can provide insights into brain function and disease. However, specific associations with measures of local brain folding are largely under-explored. Here, we conducted...
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH
Na Zhu, Emilia M. Swietlik, Carrie L. Welch, Michael W. Pauciulo, Jacob J. Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A. Lutz, Jennifer M. Martin, Carmen M. Treacy, Erika B. Rosenzweig, Usha Krishnan, Anna W. Coleman, Claudia Gonzaga-Juaregui, Allan Lawrie, Richard C. Trembath, Martin R. Wilkins, Nicholas W. Morrell, Yufeng Shen, Stefan Gräf, William C. Nichols, Wendy K. Chung, Russel Hirsch, R. James White, Marc Simon, David Badesch, Erika Rosenzweig, Charles Burger, Murali Chakinala, Thenappan Thenappan, Greg Elliott, Robert Simms, Harrison Farber, Robert Frantz, Jean Elwing, Nicholas Hill, Dunbar Ivy, James Klinger, Steven Nathan, Ronald Oudiz, Ivan Robbins, Robert Schilz, Terry Fortin, Jeffrey Wilt, Delphine Yung, Eric Austin, Ferhaan Ahmad, Nitin Bhatt, Tim Lahm, Adaani Frost, Zeenat Safdar, Zia Rehman, Robert Walter, Fernando Torres, Sahil Bakshi, Stephen Archer, Rahul Argula, Christopher Barnett, Raymond Benza, Ankit Desai, Veeranna Maddipati, Harm J. Bogaard, Colin Church, Gerry Coghlin, Robin Condliffe, Mélanie Eyries, Henning Gall, Stefano Ghio, Barbara Girerd, Simon Holden, Luke Howard, Marc Humbert, David G. Kiely, Gabor Kovacs, Jim Lordan, Rajiv D. Machado, Robert V. MacKenzie Ross, Colm McCabe, Shahin Moledina, David Montani, Horst Olschewski, Christopher J. Penkett, Joanna Pepke-Zaba, Laura Price, Christopher J. Rhodes, Werner Seeger, Florent Soubrier, Laura Southgate, Jay Suntharalingam, Andrew J. Swift, Mark R. Toshner, Anton Vonk Noordegraaf, John Wharton, Jim Wild, Stephen John Wort
May 10, 2021
Abstract: Background: Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and...
Impact of Wait Times, Perception of Care and Environment on Patient Satisfaction at Infusion Centers and Dialysis Centers
Ke Li Yew
Jan 01, 0001
Waiting time is a significant component of patient satisfaction. Patient satisfaction is an increasingly important parameter in assessing the quality of care. Understanding the most important factors impacting overall...
dialysis patient satisfaction patient waiting time Health and Medical Administration Quality Improvement
Published by: Harrisburg University of Science and Technology
Global Biobank Meta-analysis Initiative
Wei Zhou, Masahiro Kanai, Kuan-Han H Wu, Humaira Rasheed, Kristin Tsuo, Jibril B Hirbo, Ying Wang, Arjun Bhattacharya, Huiling Zhao, Shinichi Namba, Ida Surakka, Brooke N Wolford, Valeria Lo Faro, Esteban A Lopera-Maya, Kristi Läll, Marie-Julie Favé, Juulia J Partanen, Sinéad B Chapman, Juha Karjalainen, Mitja Kurki, Mutaamba Maasha, Ben M Brumpton, Sameer Chavan, Tzu-Ting Chen, Michelle Daya, Yi Ding, Yen-Chen A Feng, Lindsay A Guare, Christopher R Gignoux, Sarah E Graham, Whitney E Hornsby, Nathan Ingold, Said I Ismail, Ruth Johnson, Triin Laisk, Kuang Lin, Jun Lv, Iona Y Millwood, Sonia Moreno-Grau, Kisung Nam, Priit Palta, Anita Pandit, Michael H Preuss, Chadi Saad, Shefali Setia-Verma, Unnur Thorsteinsdottir, Jasmina Uzunovic, Anurag Verma, Matthew Zawistowski, Xue Zhong, Nahla Afifi, Kawthar M Al-Dabhani, Asma Al Thani, Yuki Bradford, Archie Campbell, Kristy Crooks, Geertruida H de Bock, Scott M Damrauer, Nicholas J Douville, Sarah Finer, Lars G Fritsche, Eleni Fthenou, Gilberto Gonzalez-Arroyo, Christopher J Griffiths, Yu Guo, Karen A Hunt, Alexander Ioannidis, Nomdo M Jansonius, Takahiro Konuma, Ming Ta Michael Lee, Arturo Lopez-Pineda, Yuta Matsuda, Riccardo E Marioni, Babak Moatamed, Marco A Nava-Aguilar, Kensuke Numakura, Snehal Patil, Nicholas Rafaels, Anne Richmond, Agustin Rojas-Muñoz, Jonathan A Shortt, Peter Straub, Ran Tao, Brett Vanderwerff, Manvi Vernekar, Yogasudha Veturi, Kathleen C Barnes, Marike Boezen, Zhengming Chen, Chia-Yen Chen, Judy Cho, George Davey Smith, Hilary K Finucane, Lude Franke, Eric R Gamazon, Andrea Ganna, Tom R Gaunt, Tian Ge, Hailiang Huang, Jennifer Huffman, Nicholas Katsanis, Jukka T Koskela, Clara Lajonchere, Matthew H Law, Liming Li, Cecilia M Lindgren, Ruth JF Loos, Stuart MacGregor, Koichi Matsuda, Catherine M Olsen, David J Porteous, Jordan A Shavit, Harold Snieder, Tomohiro Takano, Richard C Trembath, Judith M Vonk, David C Whiteman, Stephen J Wicks, Cisca Wijmenga, John Wright, Jie Zheng, Xiang Zhou, Philip Awadalla, Michael Boehnke, Carlos D Bustamante, Nancy J Cox, Segun Fatumo, Daniel H Geschwind, Caroline Hayward, Kristian Hveem, Eimear E Kenny, Seunggeun Lee, Yen-Feng Lin, Hamdi Mbarek, Reedik Mägi, Hilary C Martin, Sarah E Medland, Yukinori Okada, Aarno V Palotie, Bogdan Pasaniuc, Daniel J Rader, Marylyn D Ritchie, Serena Sanna, Jordan W Smoller, Kari Stefansson, David A van Heel, Robin G Walters, Sebastian Zöllner, Biobank of the Americas, Biobank Japan project, BioMe, BioVU, CanPath - Ontario Health Study, China Kadoorie Biobank Collaborative Group, Colorado Center for Personalized Medicine, deCODE Genetics, Estonian Biobank, FinnGen, Generation Scotland, Genes & Health Research Team, LifeLines, Mass General Brigham Biobank, Michigan Genomics Initiative, National Biobank of Korea, Penn Medicine BioBank, Qatar Biobank, QSkin Sun and Health Study, Taiwan Biobank, HUNT Study, UCLA ATLAS Community Health Initiative, Uganda Genome Resource, UK Biobank, Alicia R Martin, Cristen J Willer, Mark J Daly, Benjamin M Neale
Mar 16, 2023
Day Care Centers for Children in Karachi City
Many parents send their pre-school aged children to daycare services. Generally, children spend their time in daycare from the age of 3 months to 5 years. Various daycare centers are operating in Karachi. This researcher is...
Daycare centers Services delivery mechanism Financial sources Staff competencies Hygiene management Social Work
Published by: Department of History, University of Karachi
Using UK Biobank for sexual minority health research
Aim: Despite poorer health and healthcare outcomes experienced by lesbian, gay and bisexual adults, data for research to characterize and address these disparities remain limited. Patients & methods: We describe sexual history...
Using UK Biobank for sexual minority health research.
Aim: Despite poorer health and healthcare outcomes experienced by lesbian, gay and bisexual adults, data for research to characterize and address these disparities remain limited. Patients & methods: We describe sexual history...
Optical investigation of degradation mechanisms in AlGaN/GaN high electron mobility transistors
C Hodges, N Killat, S W Kaun, M H Wong, F Gao, T Palacios, U K Mishra, J S Speck, Daniel Wolverson, M Kuball
Jan 01, 0001
Degradation mechanisms in AlGaN/GaN high electron mobility transistors have been studied under pinch-off conditions. Sites of localized emission of electroluminescence (EL) in the form of hotspots, known to be related to gate...
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH
Na Zhu, Emilia M. Swietlik, Carrie L. Welch, Michael W. Pauciulo, Jacob J. Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A. Lutz, Jennifer M. Martin, Carmen M. Treacy, Erika B. Rosenzweig, Usha Krishnan, Anna W. Coleman, Claudia Gonzaga-Jauregui, Allan Lawrie, Richard C. Trembath, Martin R. Wilkins, Nicholas W. Morrell, Yufeng Shen, Stefan Gräf, William C. Nichols, Wendy K. Chung, Russel Hirsch, R. James White, Marc Simon, David Badesch, Erika Rosenzweig, Charles Burger, Murali Chakinala, Thenappan Thenappan, Greg Elliott, Robert Simms, Harrison Farber, Robert Frantz, Jean Elwing, Nicholas Hill, Dunbar Ivy, James Klinger, Steven Nathan, Ronald Oudiz, Ivan Robbins, Robert Schilz, Terry Fortin, Jeffrey Wilt, Delphine Yung, Eric Austin, Ferhaan Ahmad, Nitin Bhatt, Tim Lahm, Adaani Frost, Zeenat Safdar, Zia Rehman, Robert Walter, Fernando Torres, Sahil Bakshi, Stephen Archer, Rahul Argula, Christopher Barnett, Raymond Benza, Ankit Desai, Veeranna Maddipati, Harm J. Bogaard, Colin Church, Gerry Coghlin, Robin Condliffe, Mélanie Eyries, Henning Gall, Stefano Ghio, Barbara Girerd, Simon Holden, Luke Howard, Marc Humbert, David G. Kiely, Gabor Kovacs, Jim Lordan, Rajiv D. Machado, Robert V. MacKenzie Ross, Colm McCabe, Shahin Moledina, David Montani, Horst Olschewski, Christopher J. Penkett, Joanna Pepke-Zaba, Laura Price, Christopher J. Rhodes, Werner Seeger, Florent Soubrier, Laura Southgate, Jay Suntharalingam, Andrew J. Swift, Mark R. Toshner, Anton Vonk Noordegraaf, John Wharton, Jim Wild, Stephen John Wort
Jun 22, 2021
Abstract: Background: Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and...
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