Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Sneddon TP"'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Sneddon TP; Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina, USA.; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA., Gilmore KL; Department of Obstetrics and Gynecology, University of North Carolina, Chapel Hill, North Carolina, USA., Xiong M; Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina, USA., Weck KE; Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina, USA.; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA., Powell BC; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA., Vora NL; Department of Obstetrics and Gynecology, University of North Carolina, Chapel Hill, North Carolina, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep 05, pp. e63861. Date of Electronic Publication: 2024 Sep 05.
Autor:
Li L; Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, Durham, NC, United States., Perera L; Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, Durham, NC, United States., Varghese SA; Division of Pediatric Neurology, Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Shiloh-Malawsky Y; Division of Pediatric Neurology, Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Hunter SE; Division of Pediatric Neurology, Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Sneddon TP; Department of Pathology and Lab Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Powell CM; Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Matera AG; Integrative Program for Biological and Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Fan Z; Division of Pediatric Neurology, Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
Publikováno v:
Frontiers in cellular neuroscience [Front Cell Neurosci] 2023 Sep 26; Vol. 17, pp. 1259380. Date of Electronic Publication: 2023 Sep 26 (Print Publication: 2023).
Autor:
Riggs ER; Autism & Developmental Medicine Institute, Geisinger, Danville, PA. Electronic address: eriggs@geisinger.edu., Bingaman TI; Autism & Developmental Medicine Institute, Geisinger, Danville, PA., Barry CA; Drexel University College of Medicine, Philadelphia, PA., Behlmann A; Invitae, San Francisco, CA., Bluske K; Illumina, Inc, San Diego, CA., Bostwick B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Bright A; Natera, San Carlos, CA., Chen CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Clause AR; Illumina, Inc, San Diego, CA., Dharmadhikari AV; Department of Pathology and Laboratory Medicine, Children's Hospital of Los Angeles, Los Angeles, CA; Keck School of Medicine, University of Southern California, Los Angeles, CA., Ganapathi M; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY., Gonzaga-Jauregui C; Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Querétaro, Mexico., Grant AR; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; New York Medical College, Valhalla, NY., Hughes MY; University of Illinois Chicago, Chicago, IL., Kim SR; National Human Genome Research Institute, Bethesda, MD., Krause A; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Liao J; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY., Lumaka A; Laboratoire de Génétique Humaine, University of Liège, Liège, Belgium., Mah M; Trillium Health Partners, Mississauga, Ontario, Canada., Maloney CM; University of Washington, Seattle, WA., Mohan S; University of North Carolina, Chapel Hill, NC., Osei-Owusu IA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Reble E; St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada., Rennie O; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Danville, PA., Shimelis H; Autism & Developmental Medicine Institute, Geisinger, Danville, PA., Siegert RK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Sneddon TP; Department of Pathology and Laboratory Medicine, School of Medicine, The University of North Carolina, Chapel Hill, NC., Thaxton C; Department of Pathology and Laboratory Medicine, School of Medicine, The University of North Carolina, Chapel Hill, NC., Toner KA; Drexel University College of Medicine, Philadelphia, PA., Tran KT; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Webb R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Wilcox EH; The Warren Alpert Medical School of Brown University, Providence, RI., Yin J; Department of Neurology, University of California Los Angeles, Los Angeles, CA., Zhuo X; The Jackson Laboratory for Genomic Medicine, Farmington, CT., Znidarsic M; University Medical Center Ljubljana, Ljubljana, Slovenia., Martin CL; Autism & Developmental Medicine Institute, Geisinger, Danville, PA., Betancur C; Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine, Institut de Biologie Paris Seine, Paris, France., Vorstman JAS; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Miller DT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Institute of Human Genetics, Heidelberg University Hospital, Heidelberg, Germany.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Sep; Vol. 24 (9), pp. 1899-1908. Date of Electronic Publication: 2022 May 26.
Autor:
Gale DP; Department of Renal Medicine, University College London, London, UK., Mallett A; KidGen Collaborative, Australian Genomics Health Alliance, Parkville, Victoria, Australia.; Department of Renal Medicine, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia., Patel C; KidGen Collaborative, Australian Genomics Health Alliance, Parkville, Victoria, Australia.; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia., Sneddon TP; Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC, USA., Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Sampson MG; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. matthew.sampson@childrens.harvard.edu.; Harvard Medical School, Boston, MA, USA. matthew.sampson@childrens.harvard.edu.; Division of Nephrology, Boston Children's Hospital, Boston, MA, USA. matthew.sampson@childrens.harvard.edu., Bockenhauer D; Department of Renal Medicine, University College London, London, UK. d.bockenhauer@ucl.ac.uk.; Renal Unit, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK. d.bockenhauer@ucl.ac.uk.
Publikováno v:
Nature reviews. Nephrology [Nat Rev Nephrol] 2020 Nov; Vol. 16 (11), pp. 616-618.
Autor:
Strande NT; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA., Riggs ER; Autism & Developmental Medicine Institute, Geisinger Health System, Danville, PA 17837, USA., Buchanan AH; Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA., Ceyhan-Birsoy O; Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, MA 02139, USA; The Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02115, USA; Department of Pathology, Brigham & Women's Hospital, Boston, MA 02115, USA., DiStefano M; Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, MA 02139, USA., Dwight SS; Department of Genetics, Stanford University, Stanford, CA 94305, USA., Goldstein J; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA., Ghosh R; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Seifert BA; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA., Sneddon TP; Department of Genetics, Stanford University, Stanford, CA 94305, USA., Wright MW; Department of Genetics, Stanford University, Stanford, CA 94305, USA., Milko LV; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA., Cherry JM; Department of Genetics, Stanford University, Stanford, CA 94305, USA., Giovanni MA; Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA., Murray MF; Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA., O'Daniel JM; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA., Ramos EM; National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Santani AB; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Scott AF; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Plon SE; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Rehm HL; Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, MA 02139, USA; The Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02115, USA; Department of Pathology, Brigham & Women's Hospital, Boston, MA 02115, USA., Martin CL; Autism & Developmental Medicine Institute, Geisinger Health System, Danville, PA 17837, USA; Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA. Electronic address: clmartin1@geisinger.edu., Berg JS; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA. Electronic address: jonathan_berg@med.unc.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2017 Jun 01; Vol. 100 (6), pp. 895-906. Date of Electronic Publication: 2017 May 25.
Autor:
Sneddon TP; Department of Genetics, Stanford University, USA, GigaScience team, BGI HK Research Institute, 16 Dai Fu Street, Tai Po Industrial Estate, Hong Kong., Zhe XS, Edmunds SC, Li P, Goodman L, Hunter CI
Publikováno v:
Database : the journal of biological databases and curation [Database (Oxford)] 2014 Mar 12; Vol. 2014, pp. bau018. Date of Electronic Publication: 2014 Mar 12 (Print Publication: 2014).
Autor:
Sneddon TP; GigaScience, BGI-Hong Kong Co, Ltd, 16 Dai Fu Street, Tai Po Industrial Estate, NT, Hong Kong. scott@gigasciencejournal.com., Li P, Edmunds SC
Publikováno v:
GigaScience [Gigascience] 2012 Jul 12; Vol. 1 (1), pp. 11. Date of Electronic Publication: 2012 Jul 12.
Autor:
Sneddon TP; NCBI, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA., Church DM
Publikováno v:
Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2012; Vol. 838, pp. 273-89.
Autor:
Church DM, Lappalainen I, Sneddon TP, Hinton J, Maguire M, Lopez J, Garner J, Paschall J, DiCuccio M, Yaschenko E, Scherer SW, Feuk L, Flicek P
Publikováno v:
Nature genetics [Nat Genet] 2010 Oct; Vol. 42 (10), pp. 813-4.