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Coats, Timothy; Conroy, Simon; de Groot, Bas; Heeren, Pieter; Lim, Stephen; Lucke, Jacinta; Mooijaart, Simon; Nickel, Christian H.; Penfold, Rose; Singler, Katrin; van Oppen, James D.; Polyzogopoulou, Effie; Kruis, Arina; McNamara, Rosa; de Groot, Bas; Castejon-Hernandez, Santiago; Miro, Oscar; Karamercan, Mehmet Akif; Dündar, Zerrin Defne; van Oppen, James D.; Pavletić, Martina; Libicherová, Pavla; Balen, Frédéric; Benhamed, Axel; [...]Prevalence of Frailty in European Emergency Departments (FEED): an international flash mob studyView onlineSchließen
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Published in: European Geriatric Medicine
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Clark, Bethany L.; Carneiro, Ana P. B.; Pearmain, Elizabeth J.; Rouyer, Marie-Morgane; Clay, Thomas A.; Cowger, Win; Phillips, Richard A.; Manica, Andrea; Hazin, Carolina; Eriksen, Marcus; González-Solís, Jacob; Adams, Josh; Albores-Barajas, Yuri V.; Alfaro-Shigueto, Joanna; Alho, Maria Saldanha; Araujo, Deusa Teixeira; Arcos, José Manuel; Arnould, John P. Y.; Barbosa, Nadito J. P.; Barbraud, Christophe; Beard, Annalea M.; Beck, Jessie; Bell, Elizabeth A.; Bennet, Della G.; [...]Global assessment of marine plastic exposure risk for oceanic birdsView onlineSchließen
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Published in: Nature Communications
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Stunnenberg, Hendrik G.; Hirst, Martin; Abrignani, Sergio; Adams, David; de Almeida, Melanie; Altucci, Lucia; Amin, Viren; Amit, Ido; Antonarakis, Stylianos E.; Aparicio, Samuel; Arima, Takahiro; Arrigoni, Laura; Arts, Rob; Asnafi, Vahid; Esteller, Manel; Bae, Jae-Bum; Bassler, Kevin; Beck, Stephan; Berkman, Benjamin; Bernstein, Bradley E.; Bilenky, Mikhail; Bird, Adrian; Bock, Christoph; Boehm, Bernhard; [...]The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and DiscoveryView onlineSchließen
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Published in: Cell
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Gibbs, Richard A.; Weinstock, George M.; Metzker, Michael L.; Muzny, Donna M.; Sodergren, Erica J.; Scherer, Steven; Scott, Graham; Steffen, David; Worley, Kim C.; Burch, Paula E.; Okwuonu, Geoffrey; Hines, Sandra; Lewis, Lora; DeRamo, Christine; Delgado, Oliver; Dugan-Rocha, Shannon; Miner, George; Morgan, Margaret; Hawes, Alicia; Gill, Rachel; Holt, Celera Robert A.; Adams, Mark D.; Amanatides, Peter G.; Baden-Tillson, Holly; [...]Genome sequence of the Brown Norway rat yields insights into mammalian evolutionView onlineSchließen
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Published in: Nature
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Glasbey, James C; Kadir, Bryar; Ademuyiwa, Adesoji O; Adisa, Adewale O; Bhangu, Aneel; Brocklehurst, Peter; Chakrabortee, Sohini; Hardy, Pollyanna; Harrison, Ewen; Ingabire, JC Allen; Haque, Parvez D; Ismail, Lawani; Ghosh, Dhruva; Gyamfi, Frank Enoch; Li, Elizabeth; Lillywhite, Rachel; de la Medina, Antonio Ramos; Moore, Rachel; Magill, Laura; Morton, Dion; Nepogodiev, Dmitri; Ntirenganya, Faustin; Pinkney, Thomas; Omar, Omar; [...]The importance of post-discharge surgical site infection surveillance: an exploration of surrogate outcome validity in a global randomised controlled trial (FALCON)View onlineSchließen
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Published in: The Lancet Global Health
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Dutta, Debdeep; Kanca, Oguz; Shridharan, Rishi V.; Marcogliese, Paul C.; Steger, Benjamin; Morimoto, Marie; Frost, F. Graeme; Macnamara, Ellen; Wangler, Michael F.; Yamamoto, Shinya; Jenny, Andreas; Adams, David; Malicdan, May C.; Bellen, Hugo J.; Alejandro, Mercedes E.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Bellen, Hugo J.; Burrage, Lindsay C.; Chao, Hsiao-Tuan; Clark, Gary D.; Craigen, William J.; Dai, Hongzheng; [...]Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viabilityView onlineSchließen
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Published in: Proceedings of the National Academy of Sciences
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Schoch, Kelly; Esteves, Cecilia; Bican, Anna; Spillmann, Rebecca; Cope, Heidi; McConkie-Rosell, Allyn; Walley, Nicole; Fernandez, Liliana; Kohler, Jennefer N.; Bonner, Devon; Reuter, Chloe; Stong, Nicholas; Mulvihill, John J.; Novacic, Donna; Wolfe, Lynne; Abdelbaki, Ayat; Toro, Camilo; Tifft, Cyndi; Malicdan, May; Gahl, William; Liu, Pengfei; Newman, John; Goldstein, David B.; Hom, Jason; [...]Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and scienceView onlineSchließen
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Published in: Genetics in Medicine
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Lu, Jinfeng; Toro, Camilo; Adams, David R.; Acosta, Maria T.; Adam, Margaret; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; [...]LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variantsView onlineSchließen
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Published in: BMC Genomics
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Srivastava, Siddharth; Shaked, Hagar Mor; Gable, Kenneth; Gupta, Sita D; Pan, Xueyang; Somashekarappa, Niranjanakumari; Han, Gongshe; Mohassel, Payam; Gotkine, Marc; Doney, Elizabeth; Goldenberg, Paula; Tan, Queenie K G; Gong, Yi; Kleinstiver, Benjamin; Wishart, Brian; Cope, Heidi; Pires, Claudia Brito; Stutzman, Hannah; Spillmann, Rebecca C; Alejandro, Mercedes E; Azamian, Mahshid S; Bacino, Carlos A; Balasubramanyam, Ashok; Burrage, Lindsay C; [...]SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegiaView onlineSchließen
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Published in: Brain
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Morimoto, Marie; Bhambhani, Vikas; Gazzaz, Nour; Davids, Mariska; Sathiyaseelan, Paalini; Macnamara, Ellen F.; Lange, Jennifer; Lehman, Anna; Zerfas, Patricia M.; Murphy, Jennifer L.; Acosta, Maria T.; Wang, Camille; Alderman, Emily; Adam, Margaret; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; [...]Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairmentView onlineSchließen
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Published in: npj Genomic Medicine
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Tepe, Burak; Macke, Erica L.; Niceta, Marcello; Weisz Hubshman, Monika; Kanca, Oguz; Schultz-Rogers, Laura; Zarate, Yuri A.; Schaefer, G. Bradley; Granadillo De Luque, Jorge Luis; Wegner, Daniel J.; Cogne, Benjamin; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Wagner, Eric J.; Pais, Lynn S.; Neil, Jennifer E.; Mochida, Ganeshwaran H.; Walsh, Christopher A.; Magal, Nurit; Drasinover, Valerie; Shohat, Mordechai; Schwab, Tanya; Schmitz, Chris; Clark, Karl; [...]Bi-allelic variants in INTS11 are associated with a complex neurological disorderView onlineSchließen
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Published in: The American Journal of Human Genetics
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Spillmann, Rebecca C.; Tan, Queenie K.-G.; Reuter, Chloe; Schoch, Kelly; Kohler, Jennefer; Bonner, Devon; Zastrow, Diane; Alkelai, Anna; Baugh, Evan; Cope, Heidi; Marwaha, Shruti; Wheeler, Matthew T.; Bernstein, Jonathan A.; Shashi, Vandana; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; [...]A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases NetworkView onlineSchließen
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Published in: Genetics in Medicine
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Miller, Ilana M.; Yashar, Beverly M.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; [...]Continuing a search for a diagnosis: the impact of adolescence and family dynamicsView onlineSchließen
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Published in: Orphanet Journal of Rare Diseases
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Niggl, Eva; Bouman, Arjan; Briere, Lauren C.; Hoogenboezem, Remco M.; Wallaard, Ilse; Park, Joohyun; Admard, Jakob; Wilke, Martina; Harris-Mostert, Emilio D.R.O.; Elgersma, Minetta; Bain, Jennifer; Balasubramanian, Meena; Banka, Siddharth; Benke, Paul J.; Bertrand, Miriam; Blesson, Alyssa E.; Clayton-Smith, Jill; Ellingford, Jamie M.; Gillentine, Madelyn A.; Goodloe, Dana H.; Haack, Tobias B.; Jain, Mahim; Krantz, Ian; Luu, Sharon M.; [...]HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorderView onlineSchließen
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Published in: The American Journal of Human Genetics
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Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Płoski, Rafal; Pienkowski, Victor Murcia; Kłosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; [...]Macrocephaly and developmental delay caused by missense variants in RAB5CView onlineSchließen
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Published in: Human Molecular Genetics
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Morleo, Manuela; Venditti, Rossella; Theodorou, Evangelos; Briere, Lauren C.; Rosello, Marion; Tirozzi, Alfonsina; Tammaro, Roberta; Al-Badri, Nour; High, Frances A.; Shi, Jiahai; Putti, Elena; Ferrante, Luigi; Cetrangolo, Viviana; Torella, Annalaura; Walker, Melissa A.; Tenconi, Romano; Iascone, Maria; Mei, Davide; Guerrini, Renzo; van der Smagt, Jasper; Kroes, Hester Y.; van Gassen, Koen L.I.; Bilal, Muhammad; Umair, Muhammad; [...]De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingView onlineSchließen
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Published in: The American Journal of Human Genetics
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Rosenfeld, Lindsay E.; LeBlanc, Kimberly; Nagy, Anna; Ego, Braeden K.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; [...]Participation in a national diagnostic research study: assessing the patient experienceView onlineSchließen
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Published in: Orphanet Journal of Rare Diseases
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Bainbridge, Matthew N; Mazumder, Aloran; Ogasawara, Daisuke; Abou Jamra, Rami; Bernard, Geneviève; Bertini, Enrico; Burglen, Lydie; Cope, Heidi; Crawford, Ali; Derksen, Alexa; Dure, Leon; Gantz, Emily; Koch-Hogrebe, Margarete; Hurst, Anna C E; Mahida, Sonal; Marshall, Paige; Micalizzi, Alessia; Novelli, Antonio; Peng, Hongfan; Rodriguez, Diana; Robbins, Shira L; Rutledge, S Lane; Scalise, Roberta; Schließke, Sophia; [...]Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndromeView onlineSchließen
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Published in: Brain
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Shankar, Suma P.; Grimsrud, Kristin; Lanoue, Louise; Egense, Alena; Willis, Brandon; Hörberg, Johanna; AlAbdi, Lama; Mayer, Klaus; Ütkür, Koray; Monaghan, Kristin G.; Krier, Joel; Stoler, Joan; Alnemer, Maha; Shankar, Prabhu R.; Schaffrath, Raffael; Alkuraya, Fowzan S.; Brinkmann, Ulrich; Eriksson, Leif A.; Lloyd, Kent; Rauen, Katherine A.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvey, Justin; [...]A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorderView onlineSchließen
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Published in: Genetics in Medicine
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Portal-Celhay, Cynthia; Forleo-Neto, Eduardo; Eagan, Will; Musser, Bret J.; Davis, John D.; Turner, Kenneth C.; Norton, Thomas; Hooper, Andrea T.; Hamilton, Jennifer D.; Pan, Cynthia; Mahmood, Adnan; Baum, Alina; Kyratsous, Christos A.; Kim, Yunji; Parrino, Janie; Kampman, Wendy; Roque-Guerrero, Lilia; Stoici, Roxana; Fatakia, Adil; Soo, Yuhwen; Geba, Gregory P.; Kowal, Bari; DiCioccio, A. Thomas; Stahl, Neil; [...]Virologic Efficacy of Casirivimab and Imdevimab COVID-19 Antibody Combination in Outpatients With SARS-CoV-2 Infection : A Phase 2 Dose-Ranging Randomized Clinical Trial : A Phase 2 Dose-Ranging Randomized Clinical TrialView onlineSchließen
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Published in: JAMA Network Open