Zobrazeno 1 - 10
of 302
pro vyhledávání: '"Buske O"'
Autor:
Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Johnstone B; Cancer Genetics and High Risk Program, Sunnybrook Health Sciences Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Andjic S; DATA Team and Techna Institute, University Health Network, Toronto, ON, Canada., Girdea M; DATA Team and Techna Institute, University Health Network, Toronto, ON, Canada., Gillespie M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Buske O; PhenoTips, Toronto, ON, Canada., Dumitriu S; DATA Team and Techna Institute, University Health Network, Toronto, ON, Canada., Koltunova V; DATA Team and Techna Institute, University Health Network, Toronto, ON, Canada., Ramani A; Centre for Computational Medicine, Hospital for Sick Children, Toronto, ON, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Brudno M; DATA Team and Techna Institute, University Health Network, Toronto, ON, Canada.; Department of Computer Science, University of Toronto, Toronto, ON, Canada.; Centre for Computational Medicine, Hospital for Sick Children, Toronto, ON, Canada.
Publikováno v:
Human mutation [Hum Mutat] 2022 Jun; Vol. 43 (6), pp. 674-681. Date of Electronic Publication: 2022 Feb 22.
Autor:
Cohen ASA; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO., Farrow EG; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Abdelmoity AT; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO., Amudhavalli SM; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Anderson JT; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Bansal L; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Bartik L; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Baybayan P; Pacific Biosciences of California, Inc, Menlo Park, CA., Belden B; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Berrios CD; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Biswell RL; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Buczkowicz P; PhenoTips, Toronto, Canada., Buske O; PhenoTips, Toronto, Canada., Chakraborty S; Pacific Biosciences of California, Inc, Menlo Park, CA., Cheung WA; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Coffman KA; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Cooper AM; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Cross LA; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Curran T; Children's Mercy Research Institute, Kansas City, MO., Dang TTT; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Elfrink MM; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Engleman KL; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Fecske ED; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Fieser C; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Fitzgerald K; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Fleming EA; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Gadea RN; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Gannon JL; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Gelineau-Morel RN; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Gibson M; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Goldstein J; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Grundberg E; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Halpin K; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Harvey BS; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Heese BA; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Hein W; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Herd SM; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Hughes SS; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Ilyas M; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Jacobson J; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Jenkins JL; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Jiang S; Bionano Genomics, Inc, San Diego, CA., Johnston JJ; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Keeler K; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Korlach J; Pacific Biosciences of California, Inc, Menlo Park, CA., Kussmann J; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Lambert C; Pacific Biosciences of California, Inc, Menlo Park, CA., Lawson C; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Le Pichon JB; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Leeder JS; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Little VC; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Louiselle DA; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Lypka M; Bionano Genomics, Inc, San Diego, CA., McDonald BD; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Miller N; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Allergy Immunology Pulmonary and Sleep Medicine, Children's Mercy Kansas City, Kansas City, MO., Modrcin A; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Nair A; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Neal SH; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Oermann CM; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Pacicca DM; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Pawar K; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Posey NL; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Price N; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Puckett LMB; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Quezada JF; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Raje N; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Neonatology, Children's Mercy Kansas City, Kansas City, MO., Rowell WJ; Pacific Biosciences of California, Inc, Menlo Park, CA., Rush ET; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, MO., Sampath V; Division of Neonatology, Children's Mercy Hospital Kansas City, Kansas City, MO., Saunders CJ; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO., Schwager C; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Schwend RM; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Shaffer E; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Smail C; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Soden S; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Strenk ME; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Sullivan BR; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Sweeney BR; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Tam-Williams JB; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Walter AM; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Welsh H; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Wenger AM; Pacific Biosciences of California, Inc, Menlo Park, CA., Willig LK; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Yan Y; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Younger ST; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Zhou D; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Zion TN; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Thiffault I; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO. Electronic address: ithiffault@cmh.edu., Pastinen T; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Children's Mercy Research Institute, Kansas City, MO. Electronic address: tpastinen@cmh.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jun; Vol. 24 (6), pp. 1336-1348. Date of Electronic Publication: 2022 Mar 16.
Autor:
Smith, E. J. M., Savich, G. L., Brudno, M., Fiume, M., Goldenberg, A., Chiang, D. Y., Buske, O., Aparicio, S., Shah, S., Mezlini, A. M.
High-throughput RNA sequencing (RNA-seq) promises to revolutionize our understanding of genes and their role in human disease by characterizing the RNA content of tissues and cells. The realization of this promise, however, is conditional on the deve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a468c13004b92f4396d31e97b9bfba40
Autor:
Mao, Rui1,2,3 (AUTHOR), Li, Ji1,2,3 (AUTHOR), Xiao, Wenqin1,2,3 (AUTHOR) xiaowenqin0121@126.com
Publikováno v:
Aging Cell. Jul2024, Vol. 23 Issue 7, p1-12. 12p.
Autor:
Fujiwara T; Database Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Kashiwa-shi, Chiba-ken 277-0871, Japan; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Kashiwa-shi, Chiba-ken 277-8561, Japan. Electronic address: fujiwara@dbcls.rois.ac.jp., Yamamoto Y; Database Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Kashiwa-shi, Chiba-ken 277-0871, Japan., Kim JD; Database Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Kashiwa-shi, Chiba-ken 277-0871, Japan., Buske O; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada., Takagi T; Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Bunkyo-ku, Tokyo-to, 113-0032, Japan.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2018 Sep 06; Vol. 103 (3), pp. 389-399. Date of Electronic Publication: 2018 Aug 30.
Autor:
Faviez, Carole1,2,3 (AUTHOR) carole.faviez@inserm.fr, Chen, Xiaoyi1,2,4 (AUTHOR), Garcelon, Nicolas1,2,4 (AUTHOR), Zaidan, Mohamad5 (AUTHOR), Billot, Katy6 (AUTHOR), Petzold, Friederike6,7 (AUTHOR), Faour, Hassan4 (AUTHOR), Douillet, Maxime4 (AUTHOR), Rozet, Jean-Michel8 (AUTHOR), Cormier-Daire, Valérie9,10 (AUTHOR), Attié-Bitach, Tania11 (AUTHOR), Lyonnet, Stanislas10,12 (AUTHOR), Saunier, Sophie6 (AUTHOR), Burgun, Anita1,2,13 (AUTHOR)
Publikováno v:
BMC Medical Informatics & Decision Making. 5/24/2024, Vol. 24 Issue 1, p1-12. 12p.
Autor:
Borna, Sahar1 (AUTHOR), Barry, Barbara A.2 (AUTHOR), Makarova, Svetlana3 (AUTHOR), Parte, Yogesh3 (AUTHOR), Haider, Clifton R.4 (AUTHOR), Sehgal, Ajai3 (AUTHOR), Leibovich, Bradley C.3,5 (AUTHOR), Forte, Antonio Jorge1,3 (AUTHOR) forte.antonio@mayo.edu
Publikováno v:
European Journal of Investigation in Health, Psychology & Education (EJIHPE). May2024, Vol. 14 Issue 5, p1182-1196. 15p.
Autor:
Hills S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Li Q; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Jackson Health System, Miami, Florida, USA., Madden JA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Schmitz-Abe K; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Jackson Health System, Miami, Florida, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Jackson Health System, Miami, Florida, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63509. Date of Electronic Publication: 2023 Dec 29.
Autor:
Faviez, Carole1,2 (AUTHOR) carole.faviez@inserm.fr, Vincent, Marc3 (AUTHOR), Garcelon, Nicolas1,2,3 (AUTHOR), Boyer, Olivia4,5 (AUTHOR), Knebelmann, Bertrand6 (AUTHOR), Heidet, Laurence4 (AUTHOR), Saunier, Sophie5 (AUTHOR), Chen, Xiaoyi1,2,3 (AUTHOR), Burgun, Anita1,2,7 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 2/10/2024, p1-12. 12p.
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