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Results: 7315
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
Courtney E French, Helen Dolling, Karyn Mégy, Alba Sanchis-Juan, Ajay Kumar, Isabelle Delon, Matthew Wakeling, Lucy Mallin, Shruti Agrawal, Topun Austin, Florence Walston, Soo-Mi Park, Alasdair Parker, Chinthika Piyasena, Kimberley Bradbury, Next Generation Children’s Project Consortium, Sian Ellard, David H Rowitch, F Lucy Raymond
Jun 18, 2022
To facilitate early deployment of whole-genome sequencing (WGS) for severely ill children, a standardized pipeline for WGS analysis with timely turnaround and primary care pediatric uptake is needed. We developed a...
The International Human Epigenome Consortium
The International Human Epigenome Consortium (IHEC) coordinates the generation of a catalog of high-resolution reference epigenomes of major primary human cell types. The studies now presented (see the Cell Press IHEC web portal...
The Gene Ontology (GO) project in 2006.
Gene Ontology Consortium
May 06, 2020
The Gene Ontology (GO) project (http://www.geneontology.org) develops and uses a set of structured, controlled vocabularies for community use in annotating genes, gene products and sequences (also see...
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.
Terrence F Meehan, Nathalie Conte, David B West, Julius O Jacobsen, Jeremy Mason, Jonathan Warren, Chao-Kung Chen, Ilinca Tudose, Mike Relac, Peter Matthews, Natasha Karp, Luis Santos, Tanja Fiegel, Natalie Ring, Henrik Westerberg, Simon Greenaway, Duncan Sneddon, Hugh Morgan, Gemma F Codner, Michelle E Stewart, James Brown, Neil Horner, International Mouse Phenotyping Consortium, Melissa Haendel, Nicole Washington, Christopher J Mungall, Corey L Reynolds, Juan Gallegos, Valerie Gailus-Durner, Tania Sorg, Guillaume Pavlovic, Lynette R Bower, Mark Moore, Iva Morse, Xiang Gao, Glauco P Tocchini-Valentini, Yuichi Obata, Soo Young Cho, Je Kyung Seong, John Seavitt, Arthur L Beaudet, Mary E Dickinson, Yann Herault, Wolfgang Wurst, Martin Hrabe de Angelis, KC Kent Lloyd, Ann M Flenniken, Lauryl MJ Nutter, Susan Newbigging, Colin McKerlie, Monica J Justice, Stephen A Murray, Karen L Svenson, Robert E Braun, Jacqueline K White, Allan Bradley, Paul Flicek, Sara Wells, William C Skarnes, David J Adams, Helen Parkinson, Ann-Marie Mallon, Steve DM Brown, Damian Smedley
Oct 22, 2020
Although next-generation sequencing has revolutionized the ability to associate variants with human diseases, diagnostic rates and development of new therapies are still limited by a lack of knowledge of the functions and...
Next generation diagnostics in inherited arrhythmia syndromes
James S Ware, Shibu John, Angharad M Roberts, Rachel Buchan, Sungsam Gong, Nicholas S Peters, David O Robinson, Anneke Lucassen, Elijah R Behr, Stuart A Cook
Apr 16, 2019
Next-generation sequencing (NGS) provides an unprecedented opportunity to assess genetic variation underlying human disease. Here, we compared two NGS approaches for diagnostic sequencing in inherited arrhythmia syndromes. We...
Arrhythmias Cardiac DNA Mutational Analysis ERG1 Potassium Channel Ether-A-Go-Go Potassium Channels Genetic Markers Genetic Predisposition to Disease Genetic Testing Heredity High-Throughput Nucleotide Sequencing Humans Ion Channels KCNQ1 Potassium Channel Mutation NAV1.5 Voltage-Gated Sodium Channel Polymerase Chain Reaction Potassium Channels Voltage-Gated Predictive Value of Tests Ryanodine Receptor Calcium Release Channel Sensitivity and Specificity
The Gene Ontology project in 2008.
Gene Ontology Consortium
May 06, 2020
The Gene Ontology (GO) project (http://www.geneontology.org/) provides a set of structured, controlled vocabularies for community use in annotating genes, gene products and sequences (also see http://www.sequenceontology.org/)....
The Gene Ontology's Reference Genome Project
The Gene Ontology (GO) is a collaborative effort that provides structured vocabularies for annotating the molecular function, biological role, and cellular location of gene products in a highly systematic way and in a...
The SPECTRUM Consortium
M Horton, PR Perman-Howe, C Angus, J Bishop, I Bogdanovica, A Brennan, J Britton, LS Brose, J Brown, J Collin, M Dockrell, N Fitzgerald, S Friel, D Gillespie, AB Gilmore, SE Hill, C Knai, T Langley, S Martin, A McNeill, G Moore, MR Munafò, RL Murray, M Opazo Breton, J Pearce, M Petticrew, G Reid, D Robson, H Rutter, L Shahab, N Shortt, K Smith, K Syrett, L Bauld
Dec 31, 2021
The main causes of non-communicable diseases (NCDs), health inequalities and health inequity include consumption of unhealthy commodities such as tobacco, alcohol and/or foods high in fat, salt and/or sugar. These exposures...
The SPECTRUM Consortium
M Horton, PR Perman-Howe, C Angus, J Bishop, I Bogdanovica, A Brennan, J Britton, LS Brose, J Brown, J Collin, M Dockrell, N Fitzgerald, S Friel, D Gillespie, AB Gilmore, SE Hill, C Knai, T Langley, S Martin, A McNeill, G Moore, MR Munafò, RL Murray, M Opazo Breton, J Pearce, M Petticrew, G Reid, D Robson, H Rutter, L Shahab, N Shortt, K Smith, K Syrett, L Bauld
Dec 31, 2021
The main causes of non-communicable diseases (NCDs), health inequalities and health inequity include consumption of unhealthy commodities such as tobacco, alcohol and/or foods high in fat, salt and/or sugar. These exposures...
Gene Ontology Consortium
Gene Ontology Consortium
May 06, 2020
The Gene Ontology (GO; http://www.geneontology.org) is a community-based bioinformatics resource that supplies information about gene product function using ontologies to represent biological knowledge. Here we describe...
Sedentary Behavior Research Network (SBRN) - Terminology Consensus Project process and outcome.
Mark S Tremblay, Salomé Aubert, Joel D Barnes, Travis J Saunders, Valerie Carson, Amy E Latimer-Cheung, Sebastien FM Chastin, Teatske M Altenburg, Mai JM Chinapaw, SBRN Terminology Consensus Project Participants
Jul 18, 2018
BACKGROUND: The prominence of sedentary behavior research in health science has grown rapidly. With this growth there is increasing urgency for clear, common and accepted terminology and definitions. Such standardization is...
ImmUniverse Consortium
Stefania Vetrano, Gerben Bouma, Robert J Benschop, Thomas Birngruber, Antonio Costanzo, GRAM D'Haens, Loredana Frasca, Rainer Hillenbrand, Lars Iversen, Claus Johansen, Arthur Kaser, Hans JPM Koenen, Christa Noehammer, Laurent Peyrin-Biroulet, Jeroen Raes, Leonardo Ricotti, Philip Rosenstiel, Venkata P Satagopam, Stefan Schreiber, Severine Vermeire, Andreas Wollenberg, Stephan Weidinger, Daniel Ziemek, Silvio Danese, ImmUniverse Consortium
Jan 04, 2023
Immune mediated inflammatory diseases (IMIDs) are a heterogeneous group of debilitating, multifactorial and unrelated conditions featured by a dysregulated immune response leading to destructive chronic inflammation. The immune...
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
Courtney E French, Isabelle Delon, Helen Dolling, Alba Sanchis-Juan, Olga Shamardina, Karyn Mégy, Stephen Abbs, Topun Austin, Sarah Bowdin, Ricardo G Branco, Helen Firth, NIHR BioResource—Rare Disease, Next Generation Children Project, David H Rowitch, F Lucy Raymond
May 07, 2019
PURPOSE: With growing evidence that rare single gene disorders present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs to assist acute and long-term clinical decisions....
Critically ill children Genetics Genomics NICU PICU whole genome sequencing Adolescent Child Child Preschool Cohort Studies Critical Illness England Female Genetic background Genetic Diseases Inborn Humans Infant Infant Newborn Intensive Care Units Neonatal Intensive Care Units Pediatric Male Prospective Studies State Medicine whole genome sequencing Young Adult
Children’s Voices in Physical Activity Research
Lydia Emm-Collison, Rosina Cross, Maria Garcia Gonzalez, Debbie Watson, Charlie Foster, Russell Jago
Mar 28, 2022
Background: Physical activity during childhood is associated with multiple short-and long-term health benefits. Physical activity levels decline throughout primary school emphasising a need for effective strategies to promote...
Children’s Voices in Physical Activity Research
Lydia Emm-Collison, Rosina Cross, Maria Garcia Gonzalez, Debbie Watson, Charlie Foster, Russell Jago
Mar 28, 2022
Background: Physical activity during childhood is associated with multiple short-and long-term health benefits. Physical activity levels decline throughout primary school emphasising a need for effective strategies to promote...
The Typhoid Vaccine Acceleration Consortium (TyVAC): Vaccine effectiveness study designs
Typhoid fever is estimated to cause between 11.9-26.9 million infections globally each year with 129,000-216,510 deaths. Access to improved water sources have reduced disease incidence in parts of the world but the use of...
FlyBase 2.0
Jim Thurmond, Joshua L Goodman, Victor B Strelets, Helen Attrill, L Sian Gramates, Steven J Marygold, Beverley B Matthews, Gillian Millburn, Giulia Antonazzo, Vitor Trovisco, Thomas C Kaufman, Brian R Calvi, FlyBase Consortium
Feb 11, 2019
FlyBase (flybase.org) is a knowledge base that supports the community of researchers that use the fruit fly, Drosophila melanogaster, as a model organism. The FlyBase team curates and organizes a diverse array of genetic...
A toolkit for parental engagement
Janet Goodall
Mar 15, 2018
This article reports on and analyses a yearlong project supporting school staff to increase parental engagement with children’s learning. Working with 34 schools, the project included the provision of a toolkit (information and...
Proposed methods for testing and selecting the ERCC external RNA controls.
External RNA Controls Consortium
Feb 11, 2019
The External RNA Control Consortium (ERCC) is an ad-hoc group with approximately 70 members from private, public, and academic organizations. The group is developing a set of external RNA control transcripts that can be used to...
Bacteria Computational Biology DNA DNA Primers Dose-Response Relationship Drug Gene Expression Profiling Genetic Techniques Genomics Humans Models Statistical Nucleic Acid Hybridization Oligonucleotide Array Sequence Analysis Plasmids RNA RNA Messenger Reference Standards Reverse Transcriptase Polymerase Chain Reaction
Allosteric Targeting of Aurora A Kinase Using Small Molecules
BACKGROUND: Aurora A (AurA) kinase is a key mitotic protein implicated in cancer. Several small molecule inhibitors targeting the ATP binding site of this enzyme are in various stages of clinical development. However, these...
AURKA AurA-TPX2 inhibition Aurora A TPX2 allosteric inhibition Kinase inhibitors proteinprotein
interaction type IV inhibitors. Allosteric Regulation Allosteric Site Anacardic Acids Aurora Kinase A Cell Cycle Proteins Cell Line Tumor Felodipine Humans Microtubule-Associated Proteins Nuclear Proteins Protein Binding Protein Kinase Inhibitors
A next-generation liquid xenon observatory for dark matter and neutrino physics
Abstract
The nature of dark matter and properties of neutrinos are among the most pressing issues in contemporary particle physics. The dual-phase xenon time-projection chamber is...
J Aalbers, SS AbdusSalam, K Abe, V Aerne, F Agostini, S Ahmed Maouloud, DS Akerib, DY Akimov, J Akshat, AK Al Musalhi, F Alder, SK Alsum, L Althueser, CS Amarasinghe, FD Amaro, A Ames, TJ Anderson, B Andrieu, N Angelides, E Angelino, J Angevaare, VC Antochi, D Antón Martin, B Antunovic, E Aprile, HM Araújo, JE Armstrong, F Arneodo, M Arthurs, P Asadi, S Baek, X Bai, D Bajpai, A Baker, J Balajthy, S Balashov, M Balzer, A Bandyopadhyay, J Bang, E Barberio, JW Bargemann, L Baudis, D Bauer, D Baur, A Baxter, AL Baxter, M Bazyk, K Beattie, J Behrens, NF Bell, L Bellagamba, P Beltrame, M Benabderrahmane, EP Bernard, GF Bertone, P Bhattacharjee, A Bhatti, A Biekert, TP Biesiadzinski, AR Binau, R Biondi, Y Biondi, HJ Birch, F Bishara, A Bismark, C Blanco, GM Blockinger, E Bodnia, C Boehm, AI Bolozdynya, PD Bolton, S Bottaro, C Bourgeois, B Boxer, P Brás, A Breskin, PA Breur, CAJ Brew, J Brod, E Brookes, A Brown, E Brown, S Bruenner, G Bruno, R Budnik, TK Bui, S Burdin, S Buse, JK Busenitz, D Buttazzo, M Buuck, A Buzulutskov, R Cabrita, C Cai, D Cai, C Capelli, JMR Cardoso, MC Carmona-Benitez, M Cascella, R Catena, S Chakraborty, C Chan, S Chang, A Chauvin, A Chawla, H Chen, V Chepel, NI Chott, D Cichon, A Cimental Chavez, B Cimmino, M Clark, RT Co, AP Colijn, J Conrad, MV Converse, M Costa, A Cottle, G Cox, O Creaner, JJ Cuenca Garcia, JP Cussonneau, JE Cutter, CE Dahl, V D’Andrea, A David, MP Decowski, JB Dent, FF Deppisch, L de Viveiros, P Di Gangi, A Di Giovanni, S Di Pede, J Dierle, S Diglio, JEY Dobson, M Doerenkamp, D Douillet, G Drexlin, E Druszkiewicz, D Dunsky, K Eitel, A Elykov, T Emken, R Engel, SR Eriksen, M Fairbairn, A Fan, JJ Fan, SJ Farrell, S Fayer, NM Fearon, A Ferella, C Ferrari, A Fieguth, A Fieguth, S Fiorucci, H Fischer, H Flaecher, M Flierman, T Florek, R Foot, PJ Fox, R Franceschini, ED Fraser, CS Frenk, S Frohlich, T Fruth, W Fulgione, C Fuselli, P Gaemers, R Gaior, RJ Gaitskell, M Galloway, F Gao, I Garcia Garcia, J Genovesi, C Ghag, S Ghosh, E Gibson, W Gil, D Giovagnoli, F Girard, R Glade-Beucke, F Glück, S Gokhale, A de Gouvêa, L Gráf, L Grandi, J Grigat, B Grinstein, MGD van der Grinten, R Grössle, H Guan, M Guida, R Gumbsheimer, CB Gwilliam, CR Hall, LJ Hall, R Hammann, K Han, V Hannen, S Hansmann-Menzemer, R Harata, SP Hardin, E Hardy, CA Hardy, K Harigaya, R Harnik, SJ Haselschwardt, M Hernandez, SA Hertel, A Higuera, C Hils, S Hochrein, L Hoetzsch, M Hoferichter, N Hood, D Hooper, M Horn, J Howlett, DQ Huang, Y Huang, D Hunt, M Iacovacci, G Iaquaniello, R Ide, CM Ignarra, G Iloglu, Y Itow, E Jacquet, O Jahangir, J Jakob, RS James, A Jansen, W Ji, X Ji, F Joerg, J Johnson, A Joy, AC Kaboth, L Kalhor, AC Kamaha, K Kanezaki, K Kar, M Kara, N Kato, P Kavrigin, S Kazama, AW Keaveney, J Kellerer, D Khaitan, A Khazov, G Khundzakishvili, I Khurana, B Kilminster, M Kleifges, P Ko, M Kobayashi, D Kodroff, G Koltmann, A Kopec, A Kopmann, J Kopp, L Korley, VN Kornoukhov, EV Korolkova, H Kraus, LM Krauss, S Kravitz, L Kreczko, VA Kudryavtsev, F Kuger, J Kumar, B López Paredes, L LaCascio, R Laha, Q Laine, H Landsman, RF Lang, EA Leason, J Lee, DS Leonard, KT Lesko, L Levinson, C Levy, I Li, SC Li, T Li, S Liang, CS Liebenthal, J Lin, Q Lin, S Lindemann, M Lindner, A Lindote, R Linehan, WH Lippincott, X Liu, K Liu, J Liu, J Loizeau, F Lombardi, J Long, MI Lopes, E Lopez Asamar, W Lorenzon, C Lu, S Luitz, Y Ma, PAN Machado, C Macolino, T Maeda, J Mahlstedt, PA Majewski, A Manalaysay, A Mancuso, L Manenti, A Manfredini, RL Mannino, N Marangou, J March-Russell, F Marignetti, T Marrodán Undagoitia, K Martens, R Martin, I Martinez-Soler, J Masbou, D Masson, E Masson, S Mastroianni, M Mastronardi, JA Matias-Lopes, ME McCarthy, N McFadden, E McGinness, DN McKinsey, J McLaughlin, K McMichael, P Meinhardt, J Menéndez, Y Meng, M Messina, R Midha, D Milisavljevic, EH Miller, B Milosevic, S Milutinovic, SA Mitra, K Miuchi, E Mizrachi, K Mizukoshi, A Molinario, A Monte, CMB Monteiro, ME Monzani, JS Moore, K Morå, JA Morad, JD Morales Mendoza, S Moriyama, E Morrison, E Morteau, Y Mosbacher, BJ Mount, J Mueller, A St J Murphy, M Murra, D Naim, S Nakamura, E Nash, N Navaieelavasani, A Naylor, C Nedlik, HN Nelson, F Neves, JL Newstead, K Ni, JA Nikoleyczik, V Niro, UG Oberlack, M Obradovic, K Odgers, CAJ O’Hare, P Oikonomou, I Olcina, K Oliver-Mallory, A Oranday, J Orpwood, I Ostrovskiy, K Ozaki, B Paetsch, S Pal, J Palacio, KJ Palladino, J Palmer, P Panci, M Pandurovic, A Parlati, N Parveen, SJ Patton, V Pěč, Q Pellegrini, B Penning, G Pereira, R Peres, Y Perez-Gonzalez, E Perry, T Pershing, R Petrossian-Byrne, J Pienaar, A Piepke, G Pieramico, M Pierre, M Piotter, V Pizzella, G Plante, T Pollmann, D Porzio, J Qi, Y Qie, J Qin, F Quevedo, N Raj, M Rajado Silva, K Ramanathan, D Ramírez García, J Ravanis, L Redard-Jacot, D Redigolo, S Reichard, J Reichenbacher, CA Rhyne, A Richards, Q Riffard, GRC Rischbieter, A Rocchetti, SL Rosenfeld, R Rosero, N Rupp, T Rushton, S Saha, P Salucci, L Sanchez, P Sanchez-Lucas, D Santone, JMF dos Santos, I Sarnoff, G Sartorelli, ABMR Sazzad, M Scheibelhut, RW Schnee, M Schrank, J Schreiner, P Schulte, D Schulte, H Schulze Eissing, M Schumann, T Schwemberger, A Schwenk, T Schwetz, L Scotto Lavina, PR Scovell, H Sekiya, M Selvi, E Semenov, F Semeria, P Shagin, S Shaw, S Shi, E Shockley, TA Shutt, R Si-Ahmed, JJ Silk, C Silva, MC Silva, H Simgen, F Šimkovic, G Sinev, R Singh, W Skulski, J Smirnov, R Smith, M Solmaz, VN Solovov, P Sorensen, J Soria, TJ Sparmann, I Stancu, M Steidl, A Stevens, K Stifter, LE Strigari, D Subotic, B Suerfu, AM Suliga, TJ Sumner, P Szabo, M Szydagis, A Takeda, Y Takeuchi, P-L Tan, C Taricco, WC Taylor, DJ Temples, A Terliuk, PA Terman, D Thers, K Thieme, T Thümmler, DR Tiedt, M Timalsina, WH To, F Toennies, Z Tong, F Toschi, DR Tovey, J Tranter, M Trask, GC Trinchero, M Tripathi, DR Tronstad, R Trotta, YD Tsai, CD Tunnell, WG Turner, R Ueno, P Urquijo, U Utku, A Vaitkus, K Valerius, E Vassilev, S Vecchi, V Velan, S Vetter, AC Vincent, L Vittorio, G Volta, B von Krosigk, M von Piechowski, D Vorkapic, CEM Wagner, AM Wang, B Wang, Y Wang, W Wang, JJ Wang, L-T Wang, M Wang, Y Wang, JR Watson, Y Wei, C Weinheimer, E Weisman, M Weiss, D Wenz, SM West, TJ Whitis, M Williams, MJ Wilson, D Winkler, C Wittweg, J Wolf, T Wolf, FLH Wolfs, S Woodford, D Woodward, CJ Wright, VHS Wu, P Wu, S Wüstling, M Wurm, Q Xia, X Xiang, Y Xing, J Xu, Z Xu, D Xu, M Yamashita, R Yamazaki, H Yan, L Yang, Y Yang, J Ye, M Yeh, I Young, HB Yu, TT Yu, L Yuan, G Zavattini, S Zerbo, Y Zhang, M Zhong, N Zhou, X Zhou, T Zhu, Y Zhu, Y Zhuang, JP Zopounidis, K Zuber, J Zupan
Dec 21, 2022
A toolkit for parental engagement
Janet Goodall
Mar 15, 2018
This article reports on and analyses a yearlong project supporting school staff to increase parental engagement with children’s learning. Working with 34 schools, the project included the provision of a toolkit (information and...
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Detelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, Maria-Isabel Tejada, Jozef Gecz, Marie Shaw, Mark Corbett, Eric Haan, Elizabeth Thompson, Kathryn Friend, Zaamin Hussain, Anna Hackett, Michael Field, Alessandra Renieri, Roger Stevenson, Charles Schwartz, James AB Floyd, Jamie Bentham, Catherine Cosgrove, Bernard Keavney, Shoumo Bhattacharya, Italian X-linked Mental Retardation Project, UK10K consortium, GOLD Consortium, Matthew Hurles, F Lucy Raymond
Sep 15, 2015
Mendelian disease developmental delay Intellectual Disability next-generation sequencing Alleles Cohort Studies Computational Biology Female Genetic Association Studies High-Throughput Nucleotide Sequencing Humans Inheritance Patterns Intellectual Disability Male Mutation Polymorphism Single Nucleotide
The format of children’s mental images
To investigate the format of mental images and the penetrability of mental imagery performance to top-down influences in the form of gravity information, children (4-, 6-, 8- and 10-year-olds) and adults (N = 112) performed...
South Bay Salt Pond Restoration Project: Dream or Nightmare?
Paulette Hannah
Jan 01, 0001
California taxpayers are funding the South Bay Salt Pond Restoration Project to restore the decimated tidal marsh wetlands ecosystem of the San Francisco Bay estuary over the next 50 years. This paper calls for increased...
Published by: Winthrop University
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