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https://www.readbyqxmd.com/read/28939455/neurocognitive-dysfunction-in-hematopoietic-cell-transplant-recipients-expert-review-from-the-late-effects-and-quality-of-life-working-committee-of-the-cibmtr-and-complications-and-quality-of-life-working-party-of-the-ebmt
#1
REVIEW
Debra Lynch Kelly, David Buchbinder, Rafael F Duarte, Jeffrey J Auletta, Neel Bhatt, Michael Byrne, Melissa Gabriel, Anuj Mahindra, Maxim Norkin, Helene Schoemans, Ami J Shah, Ibrahim Ahmed, Yoshiko Atsuta, Grzegorz W Basak, Sara Beattie, Sita Bhella, Christopher Bredeson, Nancy Bunin, Jignesh Dalal, Andrew Daly, James Gajewski, Robert Peter Gale, John Galvin, Mehdi Hamadani, Robert J Hayashi, Kehinde Adekola, Jason Law, Catherine J Lee, Jane Liesveld, Adriana K Malone, Arnon Nagler, Seema Naik, Taiga Nishihori, Susan K Parsons, Angela Scherwath, Hannah-Lise Schofield, Robert Soiffer, Jeff Szer, Ida Twist, Anne Warwick, Baldeep M Wirk, Jean Yi, Minoo Battiwalla, Mary E Flowers, Bipin Savani, Bronwen E Shaw
Hematopoietic cell transplantation (HCT) is a potentially curative treatment for children and adults with malignant and non-malignant diseases. Despite increasing survival rates, long-term morbidity following HCT is substantial. Neurocognitive dysfunction is a serious cause of morbidity, yet little is known about neurocognitive dysfunction following HCT. To address this gap, collaborative efforts of the Center for International Blood and Marrow Transplant Research and the European Society for Blood and Marrow Transplantation undertook an expert review of neurocognitive dysfunction following HCT...
September 19, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28938266/identification-of-an-optimal-cut-off-for-drain-fluid-amylase-on-postoperative-day-1-for-predicting-clinically-relevant-fistula-after-distal-pancreatectomy-a-multi-institutional-analysis-and-external-validation
#2
Laura Maggino, Giuseppe Malleo, Claudio Bassi, Valentina Allegrini, Joal D Beane, Ross M Beckman, Bofeng Chen, Euan J Dickson, Jeffrey A Drebin, Brett L Ecker, Douglas L Fraker, Michael G House, Nigel B Jamieson, Ammar A Javed, Stacy J Kowalsky, Major K Lee, Matthew T McMillan, Robert E Roses, Roberto Salvia, Vicente Valero, Lavanniya K P Velu, Christopher L Wolfgang, Amer H Zureikat, Charles M Vollmer
OBJECTIVE: The aim of this study was to investigate the relationship between drain fluid amylase value on the first postoperative day (DFA1) and clinically relevant fistula (CR-POPF) after distal pancreatectomy (DP), and to identify the cut-off of DFA1 that optimizes CR-POPF prediction. BACKGROUND: DFA1 is a well-recognized predictor of CR-POPF after pancreatoduodenectomy, but its role in DP is largely unexplored. METHODS: DFA1 levels were correlated with CR-POPF in 2 independent multi-institutional sets of DP patients: developmental (n = 338; years 2012 to 2017) and validation cohort (n = 166; years 2006 to 2016)...
September 21, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28935345/robotic-thymectomy-is-feasible-for-large-thymomas-a-propensity-matched-comparison
#3
Peter J Kneuertz, Mohamed K Kamel, Brendon M Stiles, Benjamin E Lee, Mohamed Rahouma, Abu Nasar, Nasser K Altorki, Jeffrey L Port
BACKGROUND: Robotic-assisted thymectomy (RAT) is increasingly performed for resection of thymomas. Its application for large tumors remains controversial. In this study, we evaluated the safety and feasibility of RAT for large thymomas in comparison with transsternal thymectomy (ST). METHODS: A single institution database was reviewed for patients who underwent RAT for thymoma of 4 cm or larger between 2004 and 2016. Propensity scores were applied to match RAT with ST patients, based on age, sex, tumor size, and Masaoka stage...
September 18, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28919379/2017-hrs-expert-consensus-statement-on-cardiovascular-implantable-electronic-device-lead-management-and-extraction
#4
Fred M Kusumoto, Mark H Schoenfeld, Bruce L Wilkoff, Charles I Berul, Ulrika M Birgersdotter-Green, Roger Carrillo, Yong-Mei Cha, Jude Clancy, Jean-Claude Deharo, Kenneth A Ellenbogen, Derek Exner, Ayman A Hussein, Charles Kennergren, Andrew Krahn, Richard Lee, Charles J Love, Ruth A Madden, Hector Alfredo Mazzetti, JoEllyn Carol Moore, Jeffrey Parsonnet, Kristen K Patton, Marc A Rozner, Kimberly A Selzman, Morio Shoda, Komandoor Srivathsan, Neil F Strathmore, Charles D Swerdlow, Christine Tompkins, Oussama Wazni
No abstract text is available yet for this article.
September 11, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28915155/social-support-and-pain-outcomes-after-trauma-exposure-among-older-adults-a-multicenter-longitudinal-study
#5
Natalie L Richmond, Michelle L Meyer, Allison G Hollowell, Erin E Isenberg, Robert M Domeier, Robert A Swor, Phyllis L Hendry, David A Peak, Niels K Rathlev, Jeffrey S Jones, David C Lee, Christopher W Jones, Timothy F Platts-Mills
OBJECTIVES: Certain forms of social support have been shown to improve pain coping behaviors and pain outcomes in older adults with chronic pain, but little is known about the effect of social support on pain outcomes in older adults following trauma exposure. METHODS: We analyzed data from a prospective longitudinal study of adults aged 65 years and older presenting to an emergency department (ED) after a motor vehicle collision (MVC) to characterize the relationship between perceived social support and MVC-related pain after trauma overall and by subgroups based on gender, depressive symptoms, and marital status...
September 14, 2017: Clinical Journal of Pain
https://www.readbyqxmd.com/read/28912187/pediatric-cardiomyopathies
#6
REVIEW
Teresa M Lee, Daphne T Hsu, Paul Kantor, Jeffrey A Towbin, Stephanie M Ware, Steven D Colan, Wendy K Chung, John L Jefferies, Joseph W Rossano, Chesney D Castleberry, Linda J Addonizio, Ashwin K Lal, Jacqueline M Lamour, Erin M Miller, Philip T Thrush, Jason D Czachor, Hiedy Razoky, Ashley Hill, Steven E Lipshultz
Pediatric cardiomyopathies are rare diseases with an annual incidence of 1.1 to 1.5 per 100 000. Dilated and hypertrophic cardiomyopathies are the most common; restrictive, noncompaction, and mixed cardiomyopathies occur infrequently; and arrhythmogenic right ventricular cardiomyopathy is rare. Pediatric cardiomyopathies can result from coronary artery abnormalities, tachyarrhythmias, exposure to infection or toxins, or secondary to other underlying disorders. Increasingly, the importance of genetic mutations in the pathogenesis of isolated or syndromic pediatric cardiomyopathies is becoming apparent...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28906424/accurate-identification-of-colonoscopy-quality-and-polyp-findings-using-natural-language-processing
#7
Jeffrey K Lee, Christopher D Jensen, Theodore R Levin, Ann G Zauber, Chyke A Doubeni, Wei K Zhao, Douglas A Corley
OBJECTIVES: The aim of this study was to test the ability of a commercially available natural language processing (NLP) tool to accurately extract examination quality-related and large polyp information from colonoscopy reports with varying report formats. BACKGROUND: Colonoscopy quality reporting often requires manual data abstraction. NLP is another option for extracting information; however, limited data exist on its ability to accurately extract examination quality and polyp findings from unstructured text in colonoscopy reports with different reporting formats...
September 12, 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/28854172/discovery-of-stimulation-responsive-immune-enhancers-with-crispr-activation
#8
Dimitre R Simeonov, Benjamin G Gowen, Mandy Boontanrart, Theodore L Roth, John D Gagnon, Maxwell R Mumbach, Ansuman T Satpathy, Youjin Lee, Nicolas L Bray, Alice Y Chan, Dmytro S Lituiev, Michelle L Nguyen, Rachel E Gate, Meena Subramaniam, Zhongmei Li, Jonathan M Woo, Therese Mitros, Graham J Ray, Gemma L Curie, Nicki Naddaf, Julia S Chu, Hong Ma, Eric Boyer, Frederic Van Gool, Hailiang Huang, Ruize Liu, Victoria R Tobin, Kathrin Schumann, Mark J Daly, Kyle K Farh, K Mark Ansel, Chun J Ye, William J Greenleaf, Mark S Anderson, Jeffrey A Bluestone, Howard Y Chang, Jacob E Corn, Alexander Marson
The majority of genetic variants associated with common human diseases map to enhancers, non-coding elements that shape cell-type-specific transcriptional programs and responses to extracellular cues. Systematic mapping of functional enhancers and their biological contexts is required to understand the mechanisms by which variation in non-coding genetic sequences contributes to disease. Functional enhancers can be mapped by genomic sequence disruption, but this approach is limited to the subset of enhancers that are necessary in the particular cellular context being studied...
September 7, 2017: Nature
https://www.readbyqxmd.com/read/28844793/utilization-and-outcomes-of-radical-cystectomy-for-high-grade-non-muscle-invasive-bladder-cancer-in-elderly-patients
#9
William P Parker, Woodson Smelser, Eugene K Lee, Elizabeth B Habermann, Prabin Thapa, Harras B Zaid, Igor Frank, Tomas L Griebling, Matthew K Tollefson, R Houston Thompson, Jeffrey M Holzbeierlein, R Jeffrey Karnes, Stephen A Boorjian
BACKGROUND: Radical cystectomy (RC) represents a treatment option for patients with high-grade non-muscle-invasive bladder cancer (HG-NMIBC); however, perioperative morbidity is not insignificant, particularly in elderly patients. We sought to evaluate the associations of age with utilization and outcomes of RC for HG-NMIBC. PATIENTS AND METHODS: Patients with HG-NMIBC diagnosed between 2004 and 2013 were identified in the National Cancer Database and stratified by age: ≤ 60, 61-70, 71-80, and > 80 years...
August 1, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28837055/intraoperative-molecular-imaging-the-surgical-oncologist-s-north-star
#10
Jarrod D Predina, David Fedor, Andrew D Newton, Leilei Xia, John Y K Lee, Thomas Guzzo, Jeffrey Drebin, Sunil Singhal
No abstract text is available yet for this article.
April 6, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28783698/maintenance-of-macrophage-transcriptional-programs-and-intestinal-homeostasis-by-epigenetic-reader-sp140
#11
Stuti Mehta, D Alexander Cronkite, Megha Basavappa, Tahnee L Saunders, Fatemeh Adiliaghdam, Hajera Amatullah, Sara A Morrison, Jose D Pagan, Robert M Anthony, Pierre Tonnerre, Georg M Lauer, James C Lee, Sreehaas Digumarthi, Lorena Pantano, Shannan J Ho Sui, Fei Ji, Ruslan Sadreyev, Chan Zhou, Alan C Mullen, Vinod Kumar, Yang Li, Cisca Wijmenga, Ramnik J Xavier, Terry K Means, Kate L Jeffrey
Epigenetic "readers" that recognize defined posttranslational modifications on histones have become desirable therapeutic targets for cancer and inflammation. SP140 is one such bromodomain- and plant homeodomain (PHD)-containing reader with immune-restricted expression, and single-nucleotide polymorphisms (SNPs) within SP140 associate with Crohn's disease (CD). However, the function of SP140 and the consequences of disease-associated SP140 SNPs have remained unclear. We show that SP140 is critical for transcriptional programs that uphold the macrophage state...
March 3, 2017: Science Immunology
https://www.readbyqxmd.com/read/28765700/endoscopy-is-of-low-yield-in-the-identification-of-gastrointestinal-neoplasia-in-patients-with-dermatomyositis-a-cross-sectional-study
#12
Trilokesh D Kidambi, Gabriela Schmajuk, Andrew J Gross, James W Ostroff, Jonathan P Terdiman, Jeffrey K Lee
AIM: To determine the prevalence of gastrointestinal neoplasia among dermatomyositis patients who underwent an esophagogastroduodenoscopy and/or colonoscopy. METHODS: A cross-sectional study examining the results of upper endoscopy and colonoscopy in adults with dermatomyositis at an urban, university hospital over a ten year period was performed. Chart review was performed to confirm the diagnosis of dermatomyositis. Findings on endoscopy were collected and statistical analyses stratified by age and presence of symptoms were performed...
July 14, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28760988/ultralow-thermal-conductivity-in-all-inorganic-halide-perovskites
#13
Woochul Lee, Huashan Li, Andrew B Wong, Dandan Zhang, Minliang Lai, Yi Yu, Qiao Kong, Elbert Lin, Jeffrey J Urban, Jeffrey C Grossman, Peidong Yang
Controlling the flow of thermal energy is crucial to numerous applications ranging from microelectronic devices to energy storage and energy conversion devices. Here, we report ultralow lattice thermal conductivities of solution-synthesized, single-crystalline all-inorganic halide perovskite nanowires composed of CsPbI3 (0.45 ± 0.05 W·m(-1)·K(-1)), CsPbBr3 (0.42 ± 0.04 W·m(-1)·K(-1)), and CsSnI3 (0.38 ± 0.04 W·m(-1)·K(-1)). We attribute this ultralow thermal conductivity to the cluster rattling mechanism, wherein strong optical-acoustic phonon scatterings are driven by a mixture of 0D/1D/2D collective motions...
August 15, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28753778/the-fate-of-radical-cystectomy-patients-after-hospital-discharge-understanding-the-black-box-of-the-pre-readmission-interval
#14
Naveen Krishnan, Benjamin Li, Bruce L Jacobs, Sapan N Ambani, Tudor Borza, Chang He, Brent K Hollenbeck, Todd Morgan, Khaled S Hafez, Alon Z Weizer, Jeffrey S Montgomery, Cheryl T Lee, Opal Lesse, Mariel S Lavieri, Jonathan E Helm, Ted A Skolarus
BACKGROUND: Radical cystectomy has one of the highest 30-d hospital readmission rates but circumstances leading to readmission remain poorly understood. OBJECTIVE: To examine the postdischarge period and better understand hospital readmission after radical cystectomy. DESIGN, SETTING, AND PARTICIPANTS: We conducted a retrospective cohort study of patients treated with radical cystectomy for bladder cancer from 2005 to 2012 using our institutional database...
August 4, 2016: European Urology Focus
https://www.readbyqxmd.com/read/28743893/complex-magnetic-incommensurability-and-electronic-charge-transfer-through-the-ferroelectric-transition-in-multiferroic-co3teo6
#15
Chi-Hung Lee, Chin-Wei Wang, Yang Zhao, Wen-Hsien Li, Jeffrey W Lynn, A Brooks Harris, Kirrily Rule, Hung-Duen Yang, Helmuth Berger
Polarized and unpolarized neutron diffractions have been carried out to investigate the nature of the magnetic structures and transitions in monoclinic Co3TeO6. As the temperature is lowered below 26 K long range order develops, which is fully incommensurate (ICM) in all three crystallographic directions. Below 19.5 K additional commensurate magnetic peaks develop, consistent with the Γ4 irreducible representation, along with a splitting of the ICM peaks along the h direction which indicates that there are two separate sets of magnetic modulation vectors...
July 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28727716/the-relationship-between-body-mass-index-and-fluoroscopy-time-during-intraarticular-hip-injection-a-multicenter-cohort-study
#16
Zachary L McCormick, Meghan Bhave, David T Lee, Paul Scholten, Samuel K Chu, Ashwin N Babu, Mary Caldwell, Craig Ziegler, Humaira Ashraf, Ryan Clark, Claire Gross, Jeffrey Cara, Kristen McCormick, Brendon Ross, Joel Press, David R Walega, Daniel Cushman
BACKGROUND: Higher body mass index (BMI) is associated with difficulty in obtaining imaging studies. While there is a small body of literature regarding the relationship between fluoroscopy time and BMI during injections for pain management, this has not been studied for intraarticular (IA) hip injections. Further, in academic training centers, trainee involvement may affect this relationship. OBJECTIVE: To determine the relationship between BMI and fluoroscopy time during IA hip injections, both with and without involvement of a trainee...
July 2017: Pain Physician
https://www.readbyqxmd.com/read/28724990/large-meta-analysis-of-genome-wide-association-studies-identifies-five-loci-for-lean-body-mass
#17
M Carola Zillikens, Serkalem Demissie, Yi-Hsiang Hsu, Laura M Yerges-Armstrong, Wen-Chi Chou, Lisette Stolk, Gregory Livshits, Linda Broer, Toby Johnson, Daniel L Koller, Zoltán Kutalik, Jian'an Luan, Ida Malkin, Janina S Ried, Albert V Smith, Gudmar Thorleifsson, Liesbeth Vandenput, Jing Hua Zhao, Weihua Zhang, Ali Aghdassi, Kristina Åkesson, Najaf Amin, Leslie J Baier, Inês Barroso, David A Bennett, Lars Bertram, Rainer Biffar, Murielle Bochud, Michael Boehnke, Ingrid B Borecki, Aron S Buchman, Liisa Byberg, Harry Campbell, Natalia Campos Obanda, Jane A Cauley, Peggy M Cawthon, Henna Cederberg, Zhao Chen, Nam H Cho, Hyung Jin Choi, Melina Claussnitzer, Francis Collins, Steven R Cummings, Philip L De Jager, Ilja Demuth, Rosalie A M Dhonukshe-Rutten, Luda Diatchenko, Gudny Eiriksdottir, Anke W Enneman, Mike Erdos, Johan G Eriksson, Joel Eriksson, Karol Estrada, Daniel S Evans, Mary F Feitosa, Mao Fu, Melissa Garcia, Christian Gieger, Thomas Girke, Nicole L Glazer, Harald Grallert, Jagvir Grewal, Bok-Ghee Han, Robert L Hanson, Caroline Hayward, Albert Hofman, Eric P Hoffman, Georg Homuth, Wen-Chi Hsueh, Monica J Hubal, Alan Hubbard, Kim M Huffman, Lise B Husted, Thomas Illig, Erik Ingelsson, Till Ittermann, John-Olov Jansson, Joanne M Jordan, Antti Jula, Magnus Karlsson, Kay-Tee Khaw, Tuomas O Kilpeläinen, Norman Klopp, Jacqueline S L Kloth, Heikki A Koistinen, William E Kraus, Stephen Kritchevsky, Teemu Kuulasmaa, Johanna Kuusisto, Markku Laakso, Jari Lahti, Thomas Lang, Bente L Langdahl, Lenore J Launer, Jong-Young Lee, Markus M Lerch, Joshua R Lewis, Lars Lind, Cecilia Lindgren, Yongmei Liu, Tian Liu, Youfang Liu, Östen Ljunggren, Mattias Lorentzon, Robert N Luben, William Maixner, Fiona E McGuigan, Carolina Medina-Gomez, Thomas Meitinger, Håkan Melhus, Dan Mellström, Simon Melov, Karl Michaëlsson, Braxton D Mitchell, Andrew P Morris, Leif Mosekilde, Anne Newman, Carrie M Nielson, Jeffrey R O'Connell, Ben A Oostra, Eric S Orwoll, Aarno Palotie, Stephan Parker, Munro Peacock, Markus Perola, Annette Peters, Ozren Polasek, Richard L Prince, Katri Räikkönen, Stuart H Ralston, Samuli Ripatti, John A Robbins, Jerome I Rotter, Igor Rudan, Veikko Salomaa, Suzanne Satterfield, Eric E Schadt, Sabine Schipf, Laura Scott, Joban Sehmi, Jian Shen, Chan Soo Shin, Gunnar Sigurdsson, Shad Smith, Nicole Soranzo, Alena Stančáková, Elisabeth Steinhagen-Thiessen, Elizabeth A Streeten, Unnur Styrkarsdottir, Karin M A Swart, Sian-Tsung Tan, Mark A Tarnopolsky, Patricia Thompson, Cynthia A Thomson, Unnur Thorsteinsdottir, Emmi Tikkanen, Gregory J Tranah, Jaakko Tuomilehto, Natasja M van Schoor, Arjun Verma, Peter Vollenweider, Henry Völzke, Jean Wactawski-Wende, Mark Walker, Michael N Weedon, Ryan Welch, H-Erich Wichman, Elisabeth Widen, Frances M K Williams, James F Wilson, Nicole C Wright, Weijia Xie, Lei Yu, Yanhua Zhou, John C Chambers, Angela Döring, Cornelia M van Duijn, Michael J Econs, Vilmundur Gudnason, Jaspal S Kooner, Bruce M Psaty, Timothy D Spector, Kari Stefansson, Fernando Rivadeneira, André G Uitterlinden, Nicholas J Wareham, Vicky Ossowski, Dawn Waterworth, Ruth J F Loos, David Karasik, Tamara B Harris, Claes Ohlsson, Douglas P Kiel
Lean body mass, consisting mostly of skeletal muscle, is important for healthy aging. We performed a genome-wide association study for whole body (20 cohorts of European ancestry with n = 38,292) and appendicular (arms and legs) lean body mass (n = 28,330) measured using dual energy X-ray absorptiometry or bioelectrical impedance analysis, adjusted for sex, age, height, and fat mass. Twenty-one single-nucleotide polymorphisms were significantly associated with lean body mass either genome wide (p < 5 × 10(-8)) or suggestively genome wide (p < 2...
July 19, 2017: Nature Communications
https://www.readbyqxmd.com/read/28721671/front-end-electron-transfer-dissociation-coupled-to-a-21-tesla-ft-icr-mass-spectrometer-for-intact-protein-sequence-analysis
#18
Chad R Weisbrod, Nathan K Kaiser, John E P Syka, Lee Early, Christopher Mullen, Jean-Jacques Dunyach, A Michelle English, Lissa C Anderson, Greg T Blakney, Jeffrey Shabanowitz, Christopher L Hendrickson, Alan G Marshall, Donald F Hunt
High resolution mass spectrometry is a key technology for in-depth protein characterization. High-field Fourier transform ion cyclotron resonance mass spectrometry (FT-ICR MS) enables high-level interrogation of intact proteins in the most detail to date. However, an appropriate complement of fragmentation technologies must be paired with FTMS to provide comprehensive sequence coverage, as well as characterization of sequence variants, and post-translational modifications. Here we describe the integration of front-end electron transfer dissociation (FETD) with a custom-built 21 tesla FT-ICR mass spectrometer, which yields unprecedented sequence coverage for proteins ranging from 2...
July 18, 2017: Journal of the American Society for Mass Spectrometry
https://www.readbyqxmd.com/read/28721192/a-case-report-on-a-rare-anatomic-variant-of-cystic-duct-insertion
#19
Jeffrey J Yu, Michael Morell, John G Lee, David K Imagawa
We report a case a 70-year-old female presenting with abdominal pain who has a cystic duct coursing medial to the common bile duct before anastomosing just proximal to the ampulla. Low medial insertion of the cystic duct is a rare anatomic variant that is easily misidentified on imaging studies and may complicate surgical and percutaneous intervention. It can be identified by pre-operative imaging modalities such as magnetic resonance cholangiopancreatography.
July 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28714976/rare-coding-variants-in-plcg2-abi3-and-trem2-implicate-microglial-mediated-innate-immunity-in-alzheimer-s-disease
#20
Rebecca Sims, Sven J van der Lee, Adam C Naj, Céline Bellenguez, Nandini Badarinarayan, Johanna Jakobsdottir, Brian W Kunkle, Anne Boland, Rachel Raybould, Joshua C Bis, Eden R Martin, Benjamin Grenier-Boley, Stefanie Heilmann-Heimbach, Vincent Chouraki, Amanda B Kuzma, Kristel Sleegers, Maria Vronskaya, Agustin Ruiz, Robert R Graham, Robert Olaso, Per Hoffmann, Megan L Grove, Badri N Vardarajan, Mikko Hiltunen, Markus M Nöthen, Charles C White, Kara L Hamilton-Nelson, Jacques Epelbaum, Wolfgang Maier, Seung-Hoan Choi, Gary W Beecham, Cécile Dulary, Stefan Herms, Albert V Smith, Cory C Funk, Céline Derbois, Andreas J Forstner, Shahzad Ahmad, Hongdong Li, Delphine Bacq, Denise Harold, Claudia L Satizabal, Otto Valladares, Alessio Squassina, Rhodri Thomas, Jennifer A Brody, Liming Qu, Pascual Sánchez-Juan, Taniesha Morgan, Frank J Wolters, Yi Zhao, Florentino Sanchez Garcia, Nicola Denning, Myriam Fornage, John Malamon, Maria Candida Deniz Naranjo, Elisa Majounie, Thomas H Mosley, Beth Dombroski, David Wallon, Michelle K Lupton, Josée Dupuis, Patrice Whitehead, Laura Fratiglioni, Christopher Medway, Xueqiu Jian, Shubhabrata Mukherjee, Lina Keller, Kristelle Brown, Honghuang Lin, Laura B Cantwell, Francesco Panza, Bernadette McGuinness, Sonia Moreno-Grau, Jeremy D Burgess, Vincenzo Solfrizzi, Petra Proitsi, Hieab H Adams, Mariet Allen, Davide Seripa, Pau Pastor, L Adrienne Cupples, Nathan D Price, Didier Hannequin, Ana Frank-García, Daniel Levy, Paramita Chakrabarty, Paolo Caffarra, Ina Giegling, Alexa S Beiser, Vilmantas Giedraitis, Harald Hampel, Melissa E Garcia, Xue Wang, Lars Lannfelt, Patrizia Mecocci, Gudny Eiriksdottir, Paul K Crane, Florence Pasquier, Virginia Boccardi, Isabel Henández, Robert C Barber, Martin Scherer, Lluis Tarraga, Perrie M Adams, Markus Leber, Yuning Chen, Marilyn S Albert, Steffi Riedel-Heller, Valur Emilsson, Duane Beekly, Anne Braae, Reinhold Schmidt, Deborah Blacker, Carlo Masullo, Helena Schmidt, Rachelle S Doody, Gianfranco Spalletta, W T Longstreth Jr, Thomas J Fairchild, Paola Bossù, Oscar L Lopez, Matthew P Frosch, Eleonora Sacchinelli, Bernardino Ghetti, Qiong Yang, Ryan M Huebinger, Frank Jessen, Shuo Li, M Ilyas Kamboh, John Morris, Oscar Sotolongo-Grau, Mindy J Katz, Chris Corcoran, Melanie Dunstan, Amy Braddel, Charlene Thomas, Alun Meggy, Rachel Marshall, Amy Gerrish, Jade Chapman, Miquel Aguilar, Sarah Taylor, Matt Hill, Mònica Díez Fairén, Angela Hodges, Bruno Vellas, Hilkka Soininen, Iwona Kloszewska, Makrina Daniilidou, James Uphill, Yogen Patel, Joseph T Hughes, Jenny Lord, James Turton, Annette M Hartmann, Roberta Cecchetti, Chiara Fenoglio, Maria Serpente, Marina Arcaro, Carlo Caltagirone, Maria Donata Orfei, Antonio Ciaramella, Sabrina Pichler, Manuel Mayhaus, Wei Gu, Alberto Lleó, Juan Fortea, Rafael Blesa, Imelda S Barber, Keeley Brookes, Chiara Cupidi, Raffaele Giovanni Maletta, David Carrell, Sandro Sorbi, Susanne Moebus, Maria Urbano, Alberto Pilotto, Johannes Kornhuber, Paolo Bosco, Stephen Todd, David Craig, Janet Johnston, Michael Gill, Brian Lawlor, Aoibhinn Lynch, Nick C Fox, John Hardy, Roger L Albin, Liana G Apostolova, Steven E Arnold, Sanjay Asthana, Craig S Atwood, Clinton T Baldwin, Lisa L Barnes, Sandra Barral, Thomas G Beach, James T Becker, Eileen H Bigio, Thomas D Bird, Bradley F Boeve, James D Bowen, Adam Boxer, James R Burke, Jeffrey M Burns, Joseph D Buxbaum, Nigel J Cairns, Chuanhai Cao, Chris S Carlson, Cynthia M Carlsson, Regina M Carney, Minerva M Carrasquillo, Steven L Carroll, Carolina Ceballos Diaz, Helena C Chui, David G Clark, David H Cribbs, Elizabeth A Crocco, Charles DeCarli, Malcolm Dick, Ranjan Duara, Denis A Evans, Kelley M Faber, Kenneth B Fallon, David W Fardo, Martin R Farlow, Steven Ferris, Tatiana M Foroud, Douglas R Galasko, Marla Gearing, Daniel H Geschwind, John R Gilbert, Neill R Graff-Radford, Robert C Green, John H Growdon, Ronald L Hamilton, Lindy E Harrell, Lawrence S Honig, Matthew J Huentelman, Christine M Hulette, Bradley T Hyman, Gail P Jarvik, Erin Abner, Lee-Way Jin, Gyungah Jun, Anna Karydas, Jeffrey A Kaye, Ronald Kim, Neil W Kowall, Joel H Kramer, Frank M LaFerla, James J Lah, James B Leverenz, Allan I Levey, Ge Li, Andrew P Lieberman, Kathryn L Lunetta, Constantine G Lyketsos, Daniel C Marson, Frank Martiniuk, Deborah C Mash, Eliezer Masliah, Wayne C McCormick, Susan M McCurry, Andrew N McDavid, Ann C McKee, Marsel Mesulam, Bruce L Miller, Carol A Miller, Joshua W Miller, John C Morris, Jill R Murrell, Amanda J Myers, Sid O'Bryant, John M Olichney, Vernon S Pankratz, Joseph E Parisi, Henry L Paulson, William Perry, Elaine Peskind, Aimee Pierce, Wayne W Poon, Huntington Potter, Joseph F Quinn, Ashok Raj, Murray Raskind, Barry Reisberg, Christiane Reitz, John M Ringman, Erik D Roberson, Ekaterina Rogaeva, Howard J Rosen, Roger N Rosenberg, Mark A Sager, Andrew J Saykin, Julie A Schneider, Lon S Schneider, William W Seeley, Amanda G Smith, Joshua A Sonnen, Salvatore Spina, Robert A Stern, Russell H Swerdlow, Rudolph E Tanzi, Tricia A Thornton-Wells, John Q Trojanowski, Juan C Troncoso, Vivianna M Van Deerlin, Linda J Van Eldik, Harry V Vinters, Jean Paul Vonsattel, Sandra Weintraub, Kathleen A Welsh-Bohmer, Kirk C Wilhelmsen, Jennifer Williamson, Thomas S Wingo, Randall L Woltjer, Clinton B Wright, Chang-En Yu, Lei Yu, Fabienne Garzia, Feroze Golamaully, Gislain Septier, Sebastien Engelborghs, Rik Vandenberghe, Peter P De Deyn, Carmen Muñoz Fernadez, Yoland Aladro Benito, Hakan Thonberg, Charlotte Forsell, Lena Lilius, Anne Kinhult-Stählbom, Lena Kilander, RoseMarie Brundin, Letizia Concari, Seppo Helisalmi, Anne Maria Koivisto, Annakaisa Haapasalo, Vincent Dermecourt, Nathalie Fievet, Olivier Hanon, Carole Dufouil, Alexis Brice, Karen Ritchie, Bruno Dubois, Jayanadra J Himali, C Dirk Keene, JoAnn Tschanz, Annette L Fitzpatrick, Walter A Kukull, Maria Norton, Thor Aspelund, Eric B Larson, Ron Munger, Jerome I Rotter, Richard B Lipton, María J Bullido, Albert Hofman, Thomas J Montine, Eliecer Coto, Eric Boerwinkle, Ronald C Petersen, Victoria Alvarez, Fernando Rivadeneira, Eric M Reiman, Maura Gallo, Christopher J O'Donnell, Joan S Reisch, Amalia Cecilia Bruni, Donald R Royall, Martin Dichgans, Mary Sano, Daniela Galimberti, Peter St George-Hyslop, Elio Scarpini, Debby W Tsuang, Michelangelo Mancuso, Ubaldo Bonuccelli, Ashley R Winslow, Antonio Daniele, Chuang-Kuo Wu, Oliver Peters, Benedetta Nacmias, Matthias Riemenschneider, Reinhard Heun, Carol Brayne, David C Rubinsztein, Jose Bras, Rita Guerreiro, Ammar Al-Chalabi, Christopher E Shaw, John Collinge, David Mann, Magda Tsolaki, Jordi Clarimón, Rebecca Sussams, Simon Lovestone, Michael C O'Donovan, Michael J Owen, Timothy W Behrens, Simon Mead, Alison M Goate, Andre G Uitterlinden, Clive Holmes, Carlos Cruchaga, Martin Ingelsson, David A Bennett, John Powell, Todd E Golde, Caroline Graff, Philip L De Jager, Kevin Morgan, Nilufer Ertekin-Taner, Onofre Combarros, Bruce M Psaty, Peter Passmore, Steven G Younkin, Claudine Berr, Vilmundur Gudnason, Dan Rujescu, Dennis W Dickson, Jean-François Dartigues, Anita L DeStefano, Sara Ortega-Cubero, Hakon Hakonarson, Dominique Campion, Merce Boada, John Keoni Kauwe, Lindsay A Farrer, Christine Van Broeckhoven, M Arfan Ikram, Lesley Jones, Jonathan L Haines, Christophe Tzourio, Lenore J Launer, Valentina Escott-Price, Richard Mayeux, Jean-François Deleuze, Najaf Amin, Peter A Holmans, Margaret A Pericak-Vance, Philippe Amouyel, Cornelia M van Duijn, Alfredo Ramirez, Li-San Wang, Jean-Charles Lambert, Sudha Seshadri, Julie Williams, Gerard D Schellenberg
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × 10(-4)) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations (P < 5 × 10(-8)) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p...
September 2017: Nature Genetics
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