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Lynch syndrome caused by a pathogenic SINE-VNTR-Alu (SVA) insertion in MSH2 gene identified by long-read DNA sequencingNARA Subscribed
Familial Cancer · 2026 · Vol. 25 · Issue 3 · Springer
Jihoon E. Joo; Khalid Mahmood; Mark Clendenning; Peter Georgeson; Romy Walker; Julia Como; Fiona Phillips; Bernard J. Pope; Steven Batinovic; Natalie Diepenhorst; Julie McDonald; Toni Rice; Christophe Rosty; Mark A. Jenkins; Finlay A. Macrae; Ingrid M. Winship; Hilda High; Daniel D. Buchanan
Lynch syndrome, the most common hereditary cancer syndrome, is caused by germline pathogenic variants in DNA mismatch repair (MMR) genes. Identifying complex or structural MMR gene pathogenic variants can be challenging with short-read sequencing resulting in patients with unexplained MMR-deficient tumours. In this study, we report multiple members of a family who developed MSH2-deficient tumours where clinical multi-gene pane...
Integrative approaches in microbial fermentation of underutilized crops for enhanced nutritional and bioactive functionalitiesNARA Subscribed
Food Bioscience · 2025 · Vol. 69 · Elsevier
Food and Chemical Toxicology · 2024 · Vol. 183 · Pergamon
Global Environmental Change · 2023 · Vol. 81 · Pergamon
Computers & Geosciences · 2023 · Vol. 170 · Pergamon
GeroScience · 2022 · Vol. 44 · Issue 3 · Springer
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Prolonging survival in good health is a fundamental societal goal. However, the leading determinants of disability-free survival in healthy older people have not been well established. Data from ASPREE, a bi-national placebo-controlled trial of aspirin with 4.7 years median follow-up, was analysed. At enrolment, participants were healthy and without prior cardiovascular events, dementia or persistent physical disability. Disab...
Fish and Fisheries · 2022 · Vol. 23 · Issue 2 · Wiley
Ray Hilborn; Vera N. Agostini; Milani Chaloupka; Serge M. Garcia; Leah R. Gerber; Eric Gilman; Quentin Hanich; Amber Himes‐Cornell; Alistair J. Hobday; David Itano; Michel J. Kaiser; Hilario Murua; Daniel Ovando; Graham M. Pilling; Jake C. Rice; Rishi Sharma; Kurt M. Schaefer; Craig J. Severance; Nathan G. Taylor; Mark Fitchett
The pelagic fisheries beyond the continental shelves are currently managed with a range of tools largely based on regulating effort or target catch. These tools comprise both static and dynamic area‐based approaches to include gear limitations, closed areas and bycatch limits. There are increasing calls for additional area‐based interventions, particularly expansion of marine protected areas, with many now advocating closing 3...
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severityNARA Subscribed
Human Genetics · 2022 · Vol. 141 · Issue 1 · Springer
Chiara Fallerini; Nicola Picchiotti; Margherita Baldassarri; Kristina Zguro; Sergio Daga; Francesca Fava; Elisa Benetti; Sara Amitrano; Mirella Bruttini; Maria Palmieri; Susanna Croci; Mirjam Lista; Giada Beligni; Floriana Valentino; Ilaria Meloni; Marco Tanfoni; Francesca Minnai; Francesca Colombo; Enrico Cabri; Maddalena Fratelli; Chiara Gabbi; Stefania Mantovani; Elisa Frullanti; Marco Gori; Francis P. Crawley; Guillaume Butler-Laporte; Brent Richards; Hugo Zeberg; Miklos Lipcsey; Michael Hultström; Kerstin U. Ludwig; Eva C. Schulte; Erola Pairo-Castineira; John Kenneth Baillie; Axel Schmidt; Robert Frithiof; Simone Furini; Francesca Montagnani; Mario Tumbarello; Ilaria Rancan; Massimiliano Fabbiani; Barbara Rossetti; Laura Bergantini; Miriana D’Alessandro; Paolo Cameli; David Bennett; Federico Anedda; Simona Marcantonio; Sabino Scolletta; Federico Franchi; Maria Antonietta Mazzei; Susanna Guerrini; Edoardo Conticini; Luca Cantarini; Bruno Frediani; Danilo Tacconi; Chiara Spertilli Raffaelli; Marco Feri; Alice Donati; Raffaele Scala; Luca Guidelli; Genni Spargi; Marta Corridi; Cesira Nencioni; Leonardo Croci; Gian Piero Caldarelli; Maurizio Spagnesi; Davide Romani; Paolo Piacentini; Maria Bandini; Elena Desanctis; Silvia Cappelli; Anna Canaccini; Agnese Verzuri; Valentina Anemoli; Manola Pisani; Agostino Ognibene; Alessandro Pancrazzi; Maria Lorubbio; Massimo Vaghi; Antonella D.’Arminio Monforte; Federica Gaia Miraglia; Mario U. Mondelli; Massimo Girardis; Sophie Venturelli; Stefano Busani; Andrea Cossarizza; Andrea Antinori; Alessandra Vergori; Arianna Emiliozzi; Stefano Rusconi; Matteo Siano; Arianna Gabrieli; Agostino Riva; Daniela Francisci; Elisabetta Schiaroli; Francesco Paciosi; Andrea Tommasi; Pier Giorgio Scotton; Francesca Andretta; Sandro Panese; Stefano Baratti; Renzo Scaggiante; Francesca Gatti; Saverio Giuseppe Parisi; Francesco Castelli; Eugenia Quiros-Roldan; Melania Degli Antoni; Isabella Zanella; Matteo Della Monica; Carmelo Piscopo; Mario Capasso; Roberta Russo; Immacolata Andolfo; Achille Iolascon; Giuseppe Fiorentino; Massimo Carella; Marco Castori; Filippo Aucella; Pamela Raggi; Rita Perna; Matteo Bassetti; Antonio Di Biagio; Maurizio Sanguinetti; Luca Masucci; Alessandra Guarnaccia; Serafina Valente; Oreste De Vivo; Gabriella Doddato; Rossella Tita; Annarita Giliberti; Maria Antonietta Mencarelli; Caterina Lo Rizzo; Anna Maria Pinto; Valentina Perticaroli; Francesca Ariani; Miriam Lucia Carriero; Laura Di Sarno; Diana Alaverdian; Elena Bargagli; Marco Mandalà; Alessia Giorli; Lorenzo Salerni; Patrizia Zucchi; Pierpaolo Parravicini; Elisabetta Menatti; Tullio Trotta; Ferdinando Giannattasio; Gabriella Coiro; Fabio Lena; Leonardo Gianluca Lacerenza; Domenico A. Coviello; Cristina Mussini; Enrico Martinelli; Sandro Mancarella; Luisa Tavecchia; Mary Ann Belli; Lia Crotti; Gianfranco Parati; Maurizio Sanarico; Francesco Raimondi; Filippo Biscarini; Alessandra Stella; Marco Rizzi; Franco Maggiolo; Diego Ripamonti; Claudia Suardi; Tiziana Bachetti; Maria Teresa La Rovere; Simona Sarzi-Braga; Maurizio Bussotti; Katia Capitani; Simona Dei; Sabrina Ravaglia; Rosangela Artuso; Elena Andreucci; Giulia Gori; Angelica Pagliazzi; Erika Fiorentini; Antonio Perrella; Francesco Bianchi; Paola Bergomi; Emanuele Catena; Riccardo Colombo; Sauro Luchi; Giovanna Morelli; Paola Petrocelli; Sarah Iacopini; Sara Modica; Silvia Baroni; Francesco Vladimiro Segala; Francesco Menichetti; Marco Falcone; Giusy Tiseo; Chiara Barbieri; Tommaso Matucci; Davide Grassi; Claudio Ferri; Franco Marinangeli; Francesco Brancati; Antonella Vincenti; Valentina Borgo; Lombardi Stefania; Mirco Lenzi; Massimo Antonio Di Pietro; Francesca Vichi; Benedetta Romanin; Letizia Attala; Cecilia Costa; Andrea Gabbuti; Menè Roberto; Umberto Zuccon; Lucia Vietri; Stefano Ceri; Pietro Pinoli; Patrizia Casprini; Giuseppe Merla; Gabriella Maria Squeo; Marcello Maffezzoni; Raffaele Bruno; Marco Vecchia; Marta Colaneri; Serena Ludovisi; Yanara Marincevic-Zuniga; Jessica Nordlund; Tomas Luther; Anders Larsson; Katja Hanslin Anna Gradin; Sarah Galien; Sara Bulow Anderberg; Jacob Rosén; Sten Rubertsson; Hugo Zeberg; Robert Frithiof; Miklós Lipcsey; Michael Hultström; Sara Clohisey Peter Horby; Johnny Millar; Julian Knight; Hugh Montgomery; David Maslove; Lowell Ling; Alistair Nichol; Charlotte Summers; Tim Walsh; Charles Hinds; Malcolm G. Semple; Peter J. M. Openshaw; Manu Shankar-Hari; Antonia Ho; Danny McAuley; Chris Ponting; Kathy Rowan; J. Kenneth Baillie; Fiona Griffiths; Wilna Oosthuyzen; Jen Meikle; Paul Finernan; James Furniss; Ellie Mcmaster; Andy Law; Sara Clohisey; J. Kenneth Baillie; Trevor Paterson; Tony Wackett; Ruth Armstrong; Lee Murphy; Angie Fawkes; Richard Clark; Audrey Coutts; Lorna Donnelly; Tammy Gilchrist; Katarzyna Hafezi; Louise Macgillivray; Alan Maclean; Sarah McCafferty; Kirstie Morrice; Jane Weaver; Ceilia Boz; Ailsa Golightly; Mari Ward; Hanning Mal; Helen Szoor-McElhinney; Adam Brown; Ross Hendry; Andrew Stenhouse; Louise Cullum; Dawn Law; Sarah Law; Rachel Law; Max Head Fourman; Maaike Swets; Nicky Day; Filip Taneski; Esther Duncan; Marie Zechner; Nicholas Parkinson; Erola Pairo-Castineira; Sara Clohisey; Lucija Klaric; Andrew D. Bretherick; Konrad Rawlik; Dorota Pasko; Susan Walker; Nick Parkinson; Max Head Fourman; Clark D. Russell; James Furniss; Anne Richmond; Elvina Gountouna; David Harrison; Bo Wang; Yang Wu; Alison Meynert; Athanasios Kousathanas; Loukas Moutsianas; Zhijian Yang; Ranran Zhai; Chenqing Zheng; Graeme Grimes; Jonathan Millar; Barbara Shih; Marie Zechner; Jian Yang; Xia Shen; Chris P. Ponting; Albert Tenesa; Kathy Rowan; Andrew Law; Veronique Vitart; James F. Wilson; J. Kenneth Baillie; D. Collier; S. Wood; A. Zak; C. Borra; M. Matharu; P. May; Z. Alldis; O. Mitchelmore; R. Bowles; A. Easthorpe; F. Bibi; I. Lancoma-Malcolm; J. Gurasashvili; J. Pheby; J. Shiel; M. Bolton; M. Patel; M. Taylor; O. Zongo; P. Ebano; P. Harding; R. Astin-Chamberlain; Y. Choudhury; A. Cox; D. Kallon; M. Burton; R. Hall; S. Blowes; Z. Prime; J. Biddle; O. Prysyazhna; T. Newman; C. Tierney; J. Kassam; M. Shankar-Hari; M. Ostermann; S. Campos; A. Bociek; R. Lim; N. Grau; T. O. Jones; C. Whitton; M. Marotti; G. Arbane; S. Bonner; K. Hugill; J. Reid; I. Welters; V. Waugh; K. Williams; D. Shaw; J. 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McConnell; P. Henderson; S. Henderson; M. Sim; S. Kennedy-Hay; C. McParland; L. Rooney; N. Baxter; D. Pogson; S. Rose; Z. Daly; L. Brimfield; M. K. Phull; M. Hussain; T. Pogreban; L. Rosaroso; E. Salciute L. Grauslyte; D. Brealey; E. Wraith; N. MacCallum; G. Bercades; I. Hass; D. Smyth; A. Reyes; G. Martir; I. D. Clement; K. Webster; C. Hays; A. Gulati; L. Hodgson; M. Margarson; R. Gomez; Y. Baird; Y. Thirlwall; L. Folkes; A. Butler; E. Meadows; S. Moore; D. Raynard; H. Fox; L. Riddles; K. King; S. Kimber; G. Hobden; A. McCarthy; V. Cannons; I. Balagosa; I. Chadbourn; A. Gardner; D. Horner; D. McLaughlanv; B. Charles; N. Proudfoot; T. Marsden; L. Mc Morrow; B. Blackledge; J. Pendlebury; A. Harvey; E. Apetri; C. Basikolo; L. Catlow; R. Doonan; K. Knowles; S. Lee; D. Lomas; C. Lyons; J. Perez; M. Poulaka; M. Slaughter; K. Slevin; M. Taylor; V. Thomas; D. Walker; J. Harris; A. Drummond; R. Tully; J. Dearden; J. Philbin; S. Munt; C. Rishton; G. O’Connor; M. Mulcahy; E. Dobson; J. 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Winter-Goodwin; R. Kitson; J. Pinnell; A. Wilson; T. Nortcliffe; T. Wood; M. Home; K. Holdroyd; M. Robinson; R. Shaw; J. Greig; M. Brady; A. Haigh; L. Matupe; M. Usher; S. Mellor; S. Dale; L. Gledhill; L. Shaw; G. Turner; D. Kelly; B. Anwar; H. Riley; H. Sturgeon; A. Ali; L. Thomis; D. Melia; A. Dance; K. Hanson; S. Humphreys; I. Frost; V. Gopal; J. Godden; A. Holden; S. Swann; T. Smith; M. Clapham; U. Poultney; R. Harper; P. Rice; W. Khaliq; R. Reece-Anthony; B. Gurung; S. Moultrie; M. Odam; A. Mayer; A. Bellini; A. Pickard; J. Bryant; N. Roe; J. Sowter; D. Butcher; K. Lang; J. Taylor; P. Barry; M. Hobrok; H. Tench; R. Wolf-Roberts; H. McGuinness; R. Loosley; D. Hawcutt; L. Rad; L. O’Malley; P. Saunderson; G. Seddon; T. Anderson; N. Rogers; J. Ruddy; M. Harkins; M. Taylor; C. Beith; A. McAlpine; L. Ferguson; P. Grant; S. MacFadyen; M. McLaughlin; T. Baird; S. Rundell; L. Glass; B. Welsh; R. Hamill; F. Fisher; T. Smith; J. Gregory; A. Brown; Axel Schmidt; Kerstin U. Ludwig; Selina Rolker; Markus M. Nöthen; Julia Fazaal; Verena Keitel; Björn Jensen; Torsten Feldt; Lisa Knopp; Julia Schröder; Carlo Maj; Fabian Brand; Marc M. Berger; Thorsten Brenner; Anke Hinney; Oliver Witzke; Robert Bals; Christian Herr; Nicole Ludwig; Jörn Walter; Jochen Schneider; Johanna Erber; Christoph D. Spinner; Clemens M. Wendtner; Christof Winter; Ulrike Protzer; Nicolas Casadei; Stephan Ossowski; Olaf H. Riess; Eva C. Schulte; J. Brent Richards; Guillaume Butler-Laporte; Mirosław Kwasniewski; Urszula Korotko; Karolina Chwialkowska; Magdalena Niemira; Jerzy Jaroszewicz; Barbara Sobala-Szczygiel; Beata Puzanowska; Anna Parfieniuk-Kowerda; Diana Martonik; Anna Moniuszko-Malinowska; Sławomir Pancewicz; Dorota Zarębska-Michaluk; Krzysztof Simon; Monika Pazgan-Simon; Iwona Mozer-Lisewska; Maciej Bura; Agnieszka Adamek; Krzysztof Tomasiewicz Małgorzata Pawłowska; Anna Piekarska; Aleksandra Berkan-Kawinska; Andrzej Horban; Justyna Kowalska; Regina Podlasin; Piotr Wasilewski; Arsalin Azzadin; Miroslaw Czuczwar; Slawomir Czaban; Paweł Olszewski; Jacek Bogocz; Magdalena Ochab; Anna Kruk; Sandra Uszok; Agnieszka Bielska; Anna Szałkowska; Justyna Raczkowska; Gabriela Sokołowska; Joanna Chorostowska-Wynimko; Aleksandra Jezela-Stanek; Adriana Roży; Urszula Lechowicz; Urszula Polowianiuk; Kamil Grubczak; Aleksandra Starosz; Andrzej Eljaszewicz; Wiktoria Izdebska; Adam Krętowski; Robert Flisiak; Marcin Moniuszko, Malak Abedalthaga Alaamery; Salam Massadeh; Mohamed Fawzy; Hadeel AlBardis; Nora Aljawini; Moneera Alsuwailm; Faisal Almalki; Serghei Mangul; Junghyun Jung; Hamdi Mbarek; Chadi Saad; Yaser Al-Sarraj; Wadha Al-Muftah; Radja Badji; Asma Al Thani; Said I. Ismail; Francesca Mari; Alessandra Renieri; Simone Furini
The combined impact of common and rare exonic variants in COVID-19 host genetics is currently insufficiently understood. Here, common and rare variants from whole-exome sequencing data of about 4000 SARS-CoV-2-positive individuals were used to define an interpretable machine-learning model for predicting COVID-19 severity. First, variants were converted into separate sets of Boolean features, depending on the absence or the pr...
Complex interactions with nutrients and sediment alter the effects of predation on a reef‐building coralNARA Subscribed
Marine Ecology · 2021 · Vol. 42 · Issue 4 · Wiley
Framework‐building corals create the three‐dimensional structure of coral reefs and are subject to predation from fishes, echinoderms, and gastropods. Anthropogenic stressors can magnify the effects of such top‐down pressure on foundation species. The gastropod Coralliophila violacea (Kiener, 1836) depletes coral energy reserves via predation, potentially increasing coral susceptibility to land‐based pollution (i.e., sediment...
Marine Mammal Science · 2021 · Vol. 37 · Issue 3 · Wiley
Organochlorine (OC) pesticides and polychlorinated biphenyls (PCBs) have been detected in a variety of marine mammal species at levels associated with adverse health effects. Little is known about OC levels and impacts on health in pinnipeds with different life histories. We determined the health and levels of 18 OC pesticides and 16 PCB congeners in blubber samples from 20 Steller sea lions and 39 Pacific harbor seals strande...
Reviews in Fish Biology and Fisheries · 2019 · Vol. 29 · Issue 3 · Springer
JC virus infection of meningeal and choroid plexus cells in patients with progressive multifocal leukoencephalopathyNARA Subscribed
Journal of NeuroVirology · 2019 · Vol. 25 · Issue 4 · Springer
International Geology Review · 2017 · Vol. 59 · Issue 16 · Taylor & Francis
Form of Dietary Methylmercury does not Affect Total Mercury Accumulation in the Tissues of Zebra FinchNARA Subscribed
Bulletin of Environmental Contamination and Toxicology · 2017 · Vol. 99 · Issue 1 · Springer
Right whale occurrence in the coastal waters of Virginia, U.S.A.: Endangered species presence in a rapidly developing energy marketNARA Subscribed
Marine Mammal Science · 2016 · Vol. 32 · Issue 2 · Wiley
The endangered North Atlantic right whale is susceptible to increased risks associated with the developing energy market off the Virginia coast of the U.S.A., including increased noise exposure from shipping and energy exploration and extraction, and shipping activity. Primarily viewed as a migratory corridor between northern feeding and mating areas and the southern calving area, Virginia waters have not been intensely monito...
Wetlands · 2014 · Vol. 34 · Issue S1 · Springer
Genome-wide association study of glioma and meta-analysisNARA Subscribed
Human Genetics · 2012 · Vol. 131 · Issue 12 · Springer
Preetha Rajaraman; Beatrice S. Melin; Zhaoming Wang; Roberta McKean-Cowdin; Dominique S. Michaud; Sophia S. Wang; Melissa Bondy; Richard Houlston; Robert B. Jenkins; Margaret Wrensch; Meredith Yeager; Anders Ahlbom; Demetrius Albanes; Ulrika Andersson; Laura E. Beane Freeman; Julie E. Buring; Mary Ann Butler; Melissa Braganza; Tania Carreon; Maria Feychting; Sarah J. Fleming; Susan M. Gapstur; J. Michael Gaziano; Graham G. Giles; Goran Hallmans; Roger Henriksson; Judith Hoffman-Bolton; Peter D. Inskip; Christoffer Johansen; Cari M. Kitahara; Mark Lathrop; Chenwei Liu; Loic Le Marchand; Martha S. Linet; Stefan Lonn; Ulrike Peters; Mark P. Purdue; Nathaniel Rothman; Avima M. Ruder; Marc Sanson; Howard D. Sesso; Gianluca Severi; Xiao-Ou Shu; Matthias Simon; Meir Stampfer; Victoria L. Stevens; Kala Visvanathan; Emily White; Alicja Wolk; Anne Zeleniuch-Jacquotte; Wei Zheng; Paul Decker; Victor Enciso-Mora; Brooke Fridley; Yu-Tang Gao; Matthew Kosel; Daniel H. Lachance; Ching Lau; Terri Rice; Anthony Swerdlow; Joseph L. Wiemels; John K. Wiencke; Sanjay Shete; Yong-Bing Xiang; Yuanyuan Xiao; Robert N. Hoover; Joseph F. Fraumeni; Nilanjan Chatterjee; Patricia Hartge; Stephen J. Chanock
Generation of Priority Research Questions to Inform Conservation Policy and Management at a National LevelNARA Subscribed
Conservation Biology · 2011 · Vol. 25 · Issue 3 · Wiley
MURRAY A. RUDD; KAREN F. BEAZLEY; STEVEN J. COOKE; ERICA FLEISHMAN; DANIEL E. LANE; MICHAEL B. MASCIA; ROBIN ROTH; GARY TABOR; JISELLE A. BAKKER; TERESA BELLEFONTAINE; DOMINIQUE BERTEAUX; BERNARD CANTIN; KEITH G. CHAULK; KATHRYN CUNNINGHAM; ROD DOBELL; ELEANOR FAST; NADIA FERRARA; C. SCOTT FINDLAY; LARS K. HALLSTROM; THOMAS HAMMOND; LUISE HERMANUTZ; JEFFREY A. HUTCHINGS; KATHRYN E. LINDSAY; TIM J. MARTA; VIVIAN M. NGUYEN; GREG NORTHEY; KENT PRIOR; SAUDIEL RAMIREZ‐SANCHEZ; JAKE RICE; DARREN J. H. SLEEP; NORA D. SZABO; GENEVIÈVE TROTTIER; JEAN‐PATRICK TOUSSAINT; JEAN‐PHILIPPE VEILLEUX
Integrating knowledge from across the natural and social sciences is necessary to effectively address societal tradeoffs between human use of biological diversity and its preservation. Collaborative processes can change the ways decision makers think about scientific evidence, enhance levels of mutual trust and credibility, and advance the conservation policy discourse. Canada has responsibility for a large fraction of some ma...
Temperature dependence of myosin-II tail fragment assemblyNARA Subscribed
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