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Progress toward a universal biomedical data translator Fecho, Karamarie; Thessen, Anne E.; Baranzini, Sergio E.; Bizon, Chris; Hadlock, Jennifer J.; Huang, Sui; Roper, Ryan T.; Southall, Noel; Ta, Casey; Watkins, Paul B.; Williams, Mark D.; Xu, Hao; Byrd, William; Dancik, Vlado; Duby, Marc P.; Dumontier, Michel; Glusman, Gustavo; Harris, Nomi L.; Hinderer, Eugene W.; Hyde, Greg; Johs, Adam; Su, Andrew, I; Qin, Guangrong; Zhu, Qian Share Save
Biolink Model: A universal schema for knowledge graphs in clinical, biomedical, and translational science Unni, Deepak R.; Moxon, Sierra A. T.; Bada, Michael; Brush, Matthew; Bruskiewich, Richard; Caufield, J. Harry; Clemons, Paul A.; Dancik, Vlado; Dumontier, Michel; Fecho, Karamarie; Glusman, Gustavo; Hadlock, Jennifer J.; Harris, Nomi L.; Joshi, Arpita; Putman, Tim; Qin, Guangrong; Ramsey, Stephen A.; Shefchek, Kent A.; Solbrig, Harold; Soman, Karthik; Thessen, Anne E.; Haendel, Melissa A.; Bizon, Chris; Mungall, Christopher J. Share Save
Gut microbiome pattern reflects healthy ageing and predicts survival in humans (vol 3, pg 274, 2021) Wilmanski, Tomasz; Diener, Christian; Rappaport, Noa; Patwardhan, Sushmita; Wiedrick, Jack; Lapidus, Jodi; Earls, John C.; Zimmer, Anat; Glusman, Gustavo; Robinson, Max; Yurkovich, James T.; Kado, Deborah M.; Cauley, Jane A.; Zmuda, Joseph; Lane, Nancy E.; Magis, Andrew T.; Lovejoy, Jennifer C.; Hood, Leroy; Gibbons, Sean M.; Orwoll, Eric S.; Price, Nathan D. Share Save
Atlas of Transcription Factor Binding Sites from ENCODE DNase Hypersensitivity Data across 27 Tissue Types Funk, Cory C.; Casella, Alex M.; Jung, Segun; Richards, Matthew A.; Rodriguez, Alex; Shannon, Paul; Donovan-Maiye, Rory; Ben Heavner; Chard, Kyle; Xiao, Yukai; Glusman, Gustavo; Ertekin-Taner, Nilufer; Golde, Todd E.; Toga, Arthur; Hood, Leroy; Van Horn, John D.; Kesselman, Carl; Foster, Ian; Madduri, Ravi; Price, Nathan D.; Ament, Seth A. Share Save
Sex, obesity, diabetes, and exposure to particulate matter among patients with severe asthma: Scientific insights from a comparative analysis of open clinical data sources during a five-day hackathon Fecho, Karamarie; Ahalt, Stanley C.; Arunachalam, Saravanan; Champion, James; Chute, Christopher G.; Davis, Sarah; Gersing, Kenneth; Glusman, Gustavo; Hadlock, Jennifer; Lee, Jewel; Pfaff, Emily; Robinson, Max; Sid, Eric; Ta, Casey; Xu, Hao; Zhu, Richard; Zhu, Qian; Peden, David B. Share Save
Measurement of Organ-Specific and Acute-Phase Blood Protein Levels in Early Lyme Disease Zhou, Yong; Qin, Shizhen; Sun, Mingjuan; Tang, Li; Yan, Xiaowei; Kim, Taek-Kyun; Caballero, Juan; Glusman, Gustavo; Brunkow, Mary E.; Soloski, Mark J.; Rebman, Alison W.; Scavarda, Carol; Cooper, Denise; Omenn, Gilbert S.; Moritz, Robert L.; Wormser, Gary P.; Price, Nathan D.; Aucott, John N.; Hood, Leroy Share Save
Clinical Data: Sources and Types, Regulatory Constraints, Applications Ahalt, Stanley C.; Chute, Christopher G.; Fecho, Karamarie; Glusman, Gustavo; Hadlock, Jennifer; Taylor, Casey Overby; Pfaff, Emily R.; Robinson, Peter N.; Solbrig, Harold; Ta, Casey; Tatonetti, Nicholas; Weng, Chunhua; Bizon, Chris; Cox, Steve; Krishnamurthy, Ashok; Stillwell, Lisa; Xu, Hao; Champion, James; Peden, David B.; Arunachalam, Sarav; Robinson, Max; Rensi, Stefano Share Save
Genomic and molecular characterization of preterm birth Knijnenburg, Theo A.; Vockley, Joseph G.; Chambwe, Nyasha; Gibbs, David L.; Humphries, Crystal; Huddleston, Kathi C.; Klein, Elisabeth; Kothiyal, Prachi; Tasseff, Ryan; Dhankani, Varsha; Bodian, Dale L.; Wong, Wendy S. W.; Glusman, Gustavo; Mauldin, Denise E.; Miller, Michael; Slagel, Joseph; Elasady, Summer; Roach, Jared C.; Kramer, Roger; Leinonen, Kalle; Linthorst, Jasper; Baveja, Rajiv; Baker, Robin; Solomon, Benjamin D.; Eley, Greg; Iyer, Ramaswamy K.; Maxwell, George L.; Bernard, Brady; Shmulevich, Ilya; Hood, Leroy; Niederhuber, John E. Share Save
Parent-of-origin-specific signatures of de novo mutations (vol 48, pg 935, 2016) Goldmann, Jakob M.; Wong, Wendy S. W.; Pinelli, Michele; Farrah, Terry; Bodian, Dale; Stittrich, Anna B.; Glusman, Gustavo; Vissers, Lisenka E. L. M.; Hoischen, Alexander; Roach, Jared C.; Vockley, Joseph G.; Veltman, Joris A.; Solomon, Benjamin D.; Gilissen, Christian; Niederhuber, John E. Share Save
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A wellness study of 108 individuals using personal, dense, dynamic data clouds Price, Nathan D.; Magis, Andrew T.; Earls, John C.; Glusman, Gustavo; Levy, Roie; Lausted, Christopher; McDonald, Daniel T.; Kusebauch, Ulrike; Moss, Christopher L.; Zhou, Yong; Qin, Shizhen; Moritz, Robert L.; Brogaard, Kristin; Omenn, Gilbert S.; Lovejoy, Jennifer C.; Hood, Leroy Share Save
Evolutionary history of Tibetans inferred from whole-genome sequencing Hu, Hao; Petousi, Nayia; Glusman, Gustavo; Yu, Yao; Bohlender, Ryan; Tashi, Tsewang; Downie, Jonathan M.; Roach, Jared C.; Cole, Amy M.; Lorenzo, Felipe R.; Rogers, Alan R.; Brunkow, Mary E.; Cavalleri, Gianpiero; Hood, Leroy; Alpatty, Sama M.; Prchal, Josef T.; Jorde, Lynn B.; Robbins, Peter A.; Simonson, Tatum S.; Huff, Chad D. Share Save
Identification of Organ-Enriched Protein Biomarkers of Acute Liver Injury by Targeted Quantitative Proteomics of Blood in Acetaminophen- and Carbon-Tetrachloride-Treated Mouse Models and Acetaminophen Overdose Patients Qin, Shizhen; Zhou, Yong; Gray, Li; Kusebauch, Ulrike; McEvoy, Laurence; Antoine, Daniel J.; Hampson, Lucy; Park, Kevin B.; Campbell, David; Caballero, Juan; Glusman, Gustavo; Yan, Xiaowei; Kim, Taek-Kyun; Yuan, Yue; Wang, Kai; Rowen, Lee; Moritz, Robert L.; Omenn, Gilbert S.; Pirmohamed, Munir; Hood, Leroy Share Save
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A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51 Ameziane, Najim; May, Patrick; Haitjema, Anneke; van de Vrugt, Henri J.; van Rossum-Fikkert, Sari E.; Ristic, Dejan; Williams, Gareth J.; Balk, Jesper; Rockx, Davy; Li, Hong; Rooimans, Martin A.; Oostra, Anneke B.; Velleuer, Eunike; Dietrich, Ralf; Bleijerveld, Onno B.; Altelaar, A. F. Maarten; Meijers-Heijboer, Hanne; Joenje, Hans; Glusman, Gustavo; Roach, Jared; Hood, Leroy; Galas, David; Wyman, Claire; Balling, Rudi; den Dunnen, Johan; de Winter, Johan P.; Kanaar, Roland; Gelinas, Richard; Dorsman, Josephine C. Share Save
Crowdsourced direct-to-consumer genomic analysis of a family quartet Corpas, Manuel; Valdivia-Granda, Willy; Torres, Nazareth; Greshake, Bastian; Coletta, Alain; Knaus, Alexej; Harrison, Andrew P.; Cariaso, Mike; Moran, Federico; Nielsen, Fiona; Swan, Daniel; Solis, David Y. Weiss; Krawitz, Peter; Schacherer, Frank; Schols, Peter; Yang, Huangming; Borry, Pascal; Glusman, Gustavo; Robinson, Peter N. Share Save
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome Meester, Josephina A. N.; Southgate, Laura; Stittrich, Anna-Barbara; Venselaar, Hanka; Beekmans, Sander J. A.; den Hollander, Nicolette; Bijlsma, Emilia K.; den Enden, Appolonia Helderman-van; Verheij, Joke B. G. M.; Glusman, Gustavo; Roach, Jared C.; Lehman, Anna; Patel, Millan S.; de Vries, Bert B. A.; Ruivenkamp, Claudia; Itin, Peter; Prescott, Katrina; Clarke, Sheila; Trembath, Richard; Zenker, Martin; Sukalo, Maja; Van Laer, Lut; Loeys, Bart; Wuyts, Wim Share Save