Nicole A Vasilevsky1,2, Erin D Foster3, Mark E Engelstad4, Leigh Carmody5, Matt Might6, Chip Chambers7, Hugh J S Dawkins8, Janine Lewis9, Maria G Della Rocca9, Michelle Snyder9, Cornelius F Boerkoel10, Ana Rath11, Sharon F Terry12, Alastair Kent13, Beverly Searle14, Gareth Baynam15, Erik Jones16, Pam Gavin17, Michael Bamshad18, Jessica Chong18, Tudor Groza19, David Adams20, Adam C Resnick21, Allison P Heath21, Chris Mungall22, Ingrid A Holm23, Kayli Rageth10, Catherine A Brownstein23, Kent Shefchek1, Julie A McMurry1, Peter N Robinson5, Sebastian Köhler24, Melissa A Haendel25,26,27. 1. Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA. 2. Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, USA. 3. School of Dentistry, Oregon Health & Science University, Portland, OR, USA. 4. School of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA. 5. Jackson Laboratory for Genomic Medicine, Farmington, CT, USA. 6. Undiagnosed Disease Network, Boston, MA, USA. 7. School of Medicine, Vanderbilt University, Nashville, TN, USA. 8. Department of Health, Government of Western Australia, Perth, Western Australia, Australia. 9. National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center, Bethesda, MD, USA. 10. Sanford Health Imagenetics, Sioux Falls, SD, USA. 11. Orphanet, Paris, France. 12. Genetic Alliance, Washington, DC, USA. 13. Genetic Alliance UK, London, UK. 14. Unique, Oxted, UK. 15. Medical School, University of Western Australia, Perth, Western Australia, Australia. 16. Inspire, Arlington, VA, USA. 17. National Organization for Rare Disorders, Quincy, MA, USA. 18. Department of Pediatrics, University of Washington, Seattle, WA, USA. 19. Kinghorn Centre for Clinical Genomics, Garvan Institute, Sydney, New South Wales, Australia. 20. Undiagnosed Disease Program, Bethesda, MD, USA. 21. Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA. 22. Lawrence Berkeley National Laboratory, Berkeley, CA, USA. 23. Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. 24. NeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Berlin, Germany. 25. Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA. haendel@ohsu.edu. 26. Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, USA. haendel@ohsu.edu. 27. Linus Pauling Institute, Oregon State University, Corvallis, OR, USA. haendel@ohsu.edu.
Authors: Sebastian Köhler; N Christine Øien; Orion J Buske; Tudor Groza; Julius O B Jacobsen; Craig McNamara; Nicole Vasilevsky; Leigh C Carmody; J P Gourdine; Michael Gargano; Julie A McMurry; Daniel Danis; Christopher J Mungall; Damian Smedley; Melissa Haendel; Peter N Robinson Journal: Curr Protoc Hum Genet Date: 2019-09
Authors: Francesco Moramarco; Damir Juric; Aleksandar Savkov; Jack Flann; Maria Lehl; Kristian Boda; Tessa Grafen; Vitalii Zhelezniak; Sunir Gohil; Alex Papadopoulos Korfiatis; Nils Hammerla Journal: AMIA Annu Symp Proc Date: 2022-02-21
Authors: Yaffa R Rubinstein; Peter N Robinson; William A Gahl; Paul Avillach; Gareth Baynam; Helene Cederroth; Rebecca M Goodwin; Stephen C Groft; Mats G Hansson; Nomi L Harris; Vojtech Huser; Deborah Mascalzoni; Julie A McMurry; Matthew Might; Christoffer Nellaker; Barend Mons; Dina N Paltoo; Jonathan Pevsner; Manuel Posada; Alison P Rockett-Frase; Marco Roos; Tamar B Rubinstein; Domenica Taruscio; Esther van Enckevort; Melissa A Haendel Journal: JAMIA Open Date: 2020-09-11
Authors: Sebastian Köhler; Leigh Carmody; Nicole Vasilevsky; Julius O B Jacobsen; Daniel Danis; Jean-Philippe Gourdine; Michael Gargano; Nomi L Harris; Nicolas Matentzoglu; Julie A McMurry; David Osumi-Sutherland; Valentina Cipriani; James P Balhoff; Tom Conlin; Hannah Blau; Gareth Baynam; Richard Palmer; Dylan Gratian; Hugh Dawkins; Michael Segal; Anna C Jansen; Ahmed Muaz; Willie H Chang; Jenna Bergerson; Stanley J F Laulederkind; Zafer Yüksel; Sergi Beltran; Alexandra F Freeman; Panagiotis I Sergouniotis; Daniel Durkin; Andrea L Storm; Marc Hanauer; Michael Brudno; Susan M Bello; Murat Sincan; Kayli Rageth; Matthew T Wheeler; Renske Oegema; Halima Lourghi; Maria G Della Rocca; Rachel Thompson; Francisco Castellanos; James Priest; Charlotte Cunningham-Rundles; Ayushi Hegde; Ruth C Lovering; Catherine Hajek; Annie Olry; Luigi Notarangelo; Morgan Similuk; Xingmin A Zhang; David Gómez-Andrés; Hanns Lochmüller; Hélène Dollfus; Sergio Rosenzweig; Shruti Marwaha; Ana Rath; Kathleen Sullivan; Cynthia Smith; Joshua D Milner; Dorothée Leroux; Cornelius F Boerkoel; Amy Klion; Melody C Carter; Tudor Groza; Damian Smedley; Melissa A Haendel; Chris Mungall; Peter N Robinson Journal: Nucleic Acids Res Date: 2019-01-08 Impact factor: 16.971
Authors: Kent A Shefchek; Nomi L Harris; Michael Gargano; Nicolas Matentzoglu; Deepak Unni; Matthew Brush; Daniel Keith; Tom Conlin; Nicole Vasilevsky; Xingmin Aaron Zhang; James P Balhoff; Larry Babb; Susan M Bello; Hannah Blau; Yvonne Bradford; Seth Carbon; Leigh Carmody; Lauren E Chan; Valentina Cipriani; Alayne Cuzick; Maria Della Rocca; Nathan Dunn; Shahim Essaid; Petra Fey; Chris Grove; Jean-Phillipe Gourdine; Ada Hamosh; Midori Harris; Ingo Helbig; Maureen Hoatlin; Marcin Joachimiak; Simon Jupp; Kenneth B Lett; Suzanna E Lewis; Craig McNamara; Zoë M Pendlington; Clare Pilgrim; Tim Putman; Vida Ravanmehr; Justin Reese; Erin Riggs; Sofia Robb; Paola Roncaglia; James Seager; Erik Segerdell; Morgan Similuk; Andrea L Storm; Courtney Thaxon; Anne Thessen; Julius O B Jacobsen; Julie A McMurry; Tudor Groza; Sebastian Köhler; Damian Smedley; Peter N Robinson; Christopher J Mungall; Melissa A Haendel; Monica C Munoz-Torres; David Osumi-Sutherland Journal: Nucleic Acids Res Date: 2020-01-08 Impact factor: 16.971
Authors: Sabina Gainotti; Deborah Mascalzoni; Virginie Bros-Facer; Carlo Petrini; Giovanna Floridia; Marco Roos; Marco Salvatore; Domenica Taruscio Journal: Int J Environ Res Public Health Date: 2018-09-21 Impact factor: 3.390