Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Schaffer AE"'
Autor:
Wang YJ; Department of Physiology and Biophysics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA., Seibert H; Department of Biochemistry, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA., Ahn LY; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA., Schaffer AE; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA., Mu TW; Department of Physiology and Biophysics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA. Electronic address: tingwei.mu@case.edu.
Publikováno v:
Pharmacological research [Pharmacol Res] 2024 Oct; Vol. 208, pp. 107356. Date of Electronic Publication: 2024 Aug 30.
Autor:
Ellwanger K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. kornelia.ellwanger@med.uni-tuebingen.de., Brill JA; The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Ontario, Canada., de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Elgersma Y; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands., Icmat M; The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Ontario, Canada., Lecoquierre F; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics, FHU G4 Génomique, Rouen, France., Lobato AG; Department of Molecular and Cellular Pharmacology, University of Miami Miller School of Medicine, Miami, FL, USA.; Graduate Program in Human Genetics and Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Department of Neurology, University of Chicago, Chicago, IL, USA., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli (Na), Italy.; Department of Precision Medicine, University of Campania Luigi Vanvitelli, Napoli, Italy., Ori M; Department of Biology, University of Pisa, Pisa, Italy., Schaffer AE; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA., Vitobello A; INSERM-Université de Bourgogne UMR1231 GAD «Génétique Des Anomalies du Développement», FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Dijon University Hospital- UF innovation en diagnostic génomique, Dijon, France., Wells S; The Mary Lyon Centre at MRC Harwell, Harwell Science Campus, Oxon, UK., Yalcin B; Inserm Unit 1231, University of Bourgogne Franche-Comté, Dijon, France., Zhai RG; Department of Molecular and Cellular Pharmacology, University of Miami Miller School of Medicine, Miami, FL, USA.; Department of Neurology, University of Chicago, Chicago, IL, USA., Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Zurek B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Bermejo-Sánchez E; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Evangelista T; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris, France., Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli (Na), Italy.; Department of Precision Medicine, University of Campania Luigi Vanvitelli, Napoli, Italy., Schüle R; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany., Verloes A; Department of Genetics, Assistance Publique-Hôpitaux de Paris - Université de Paris, Robert DEBRE University Hospital, Paris, France., Brunner H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, Quebec, Canada., Lasko P; Department of Biology, McGill University, Montreal, Quebec, Canada., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. olaf.riess@med.uni-tuebingen.de.
Publikováno v:
Lab animal [Lab Anim (NY)] 2024 Jul; Vol. 53 (7), pp. 161-165.
Autor:
Werren EA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., LaForce GR; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA., Srivastava A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India., Perillo DR; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Li S; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Johnson K; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Baris S; Division of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, 34722, Turkey., Berger B; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Regan SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Pfennig CD; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., de Munnik S; Department of Human Genetics, Radboud University Medical Centre Nijmegen, Nijmegen, 6524, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Centre Nijmegen, Nijmegen, 6524, the Netherlands., Hebbar M; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 98195, Seattle, WA, USA., Jimenez-Heredia R; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, 1090, Austria., Karakoc-Aydiner E; Division of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, 34722, Turkey., Ozen A; Division of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, 34722, Turkey., Dmytrus J; Research Centre for Molecular Medicine of the Austrian Academy of Sciences, Vienna, 1090, Austria., Krolo A; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, 1090, Austria., Corning K; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Louie RJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Lebel RR; Section of Medical Genetics, SUNY Upstate Medical University, Syracuse, NY, 13210, USA., Le TL; Imagine Institute, INSERM U1163, Paris Cité University, Paris, 75015, France., Amiel J; Imagine Institute, INSERM U1163, Paris Cité University, Paris, 75015, France.; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, 75015, France., Gordon CT; Imagine Institute, INSERM U1163, Paris Cité University, Paris, 75015, France., Boztug K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, 1090, Austria.; Research Centre for Molecular Medicine of the Austrian Academy of Sciences, Vienna, 1090, Austria.; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, 1090, Austria.; St. Anna Children's Hospital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, 1090, Austria., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, 576104, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, 576104, India., Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. sbielas@umich.edu.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. sbielas@umich.edu., Schaffer AE; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA. ashleigh.schaffer@case.edu.
Publikováno v:
Nature communications [Nat Commun] 2024 Feb 22; Vol. 15 (1), pp. 1640. Date of Electronic Publication: 2024 Feb 22.
Autor:
Zhang PP; Department of Physiology and Biophysics, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA., Benske TM; Department of Physiology and Biophysics, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA., Ahn LY; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA., Schaffer AE; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA., Paton JC; Research Centre for Infectious Diseases, Department of Molecular and Biomedical Science, University of Adelaide, Adelaide, SA, 5005, Australia., Paton AW; Research Centre for Infectious Diseases, Department of Molecular and Biomedical Science, University of Adelaide, Adelaide, SA, 5005, Australia., Mu TW; Department of Physiology and Biophysics, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA. tingwei.mu@case.edu., Wang YJ; Department of Physiology and Biophysics, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA. yajuan.wang@case.edu.
Publikováno v:
Acta pharmacologica Sinica [Acta Pharmacol Sin] 2024 Feb; Vol. 45 (2), pp. 282-297. Date of Electronic Publication: 2023 Oct 06.
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2024 Jan 12. Date of Electronic Publication: 2024 Jan 12.
Autor:
LaForce GR; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio, USA., Philippidou P; Department of Neurosciences, Case Western Reserve University, Cleveland, Ohio, USA., Schaffer AE; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio, USA.
Publikováno v:
Wiley interdisciplinary reviews. RNA [Wiley Interdiscip Rev RNA] 2023 May-Jun; Vol. 14 (3), pp. e1762. Date of Electronic Publication: 2022 Sep 19.
Autor:
Wang YJ; Department of Physiology and Biophysics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA., Seibert H; Department of Biochemistry, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA., Ahn LY; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA., Schaffer AE; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA., Mu TW; Department of Physiology and Biophysics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA.
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2023 Apr 19. Date of Electronic Publication: 2023 Apr 19.
Autor:
Grant JK; Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Snow S; Division of Cardiology, Duke University School of Medicine, 2301 Erwin Rd, Durham, NC, 27705, USA., Kelsey M; Division of Cardiology, Duke University School of Medicine, 2301 Erwin Rd, Durham, NC, 27705, USA., Rymer J; Division of Cardiology, Duke University School of Medicine, 2301 Erwin Rd, Durham, NC, 27705, USA., Schaffer AE; Division of Endocrinology, Metabolism, and Nutrition, Duke University School of Medicine, Durham, NC, USA., Patel MR; Division of Cardiology, Duke University School of Medicine, 2301 Erwin Rd, Durham, NC, 27705, USA., McGarrah RW; Division of Cardiology, Duke University School of Medicine, 2301 Erwin Rd, Durham, NC, 27705, USA., Pagidipati NJ; Division of Cardiology, Duke University School of Medicine, 2301 Erwin Rd, Durham, NC, 27705, USA., Shah NP; Division of Cardiology, Duke University School of Medicine, 2301 Erwin Rd, Durham, NC, 27705, USA. nishant.shah@duke.edu.
Publikováno v:
Current cardiology reports [Curr Cardiol Rep] 2022 Oct; Vol. 24 (10), pp. 1373-1385. Date of Electronic Publication: 2022 Jul 29.
Autor:
Chen CW; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA. cxc1036@case.edu., Guan BJ; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA., Alzahrani MR; Department of Biochemistry, Case Western Reserve University, Cleveland, OH, 44106, USA., Gao Z; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA., Gao L; Department of Genetics and Institute for Diabetes, Obesity and Metabolism, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA., Bracey S; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA., Wu J; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA., Mbow CA; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA., Jobava R; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA., Haataja L; The Division of Metabolism, Endocrinology & Diabetes, University of Michigan Medical Center, Ann Arbor, MI, 48105, USA., Zalavadia AH; Lerner Research Institute, Cleveland Clinic, 9620 Carnegie Ave N Bldg, Cleveland, OH, 44106, US., Schaffer AE; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA., Lee H; Department of Biomolecular Chemistry, University of Wisconsin-Madison, School of Medicine and Public Health, Madison, WI, 53706, USA., LaFramboise T; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA., Bederman I; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA., Arvan P; The Division of Metabolism, Endocrinology & Diabetes, University of Michigan Medical Center, Ann Arbor, MI, 48105, USA., Mathews CE; Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, FL, US., Gerling IC; Department of Medicine, University of Tennessee, Memphis, TN, US., Kaestner KH; Department of Genetics and Institute for Diabetes, Obesity and Metabolism, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA., Tirosh B; Department of Biochemistry, Case Western Reserve University, Cleveland, OH, 44106, USA.; The Institute for Drug Research, The Hebrew University of Jerusalem, Jerusalem, Israel., Engin F; Department of Biomolecular Chemistry, University of Wisconsin-Madison, School of Medicine and Public Health, Madison, WI, 53706, USA. fengin@wisc.edu.; Department of Medicine, Division of Endocrinology, Diabetes & Metabolism, University of Wisconsin-Madison, School of Medicine and Public Health, Madison, WI, 53705, USA. fengin@wisc.edu., Hatzoglou M; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA. mxh8@case.edu.
Publikováno v:
Nature communications [Nat Commun] 2022 Aug 08; Vol. 13 (1), pp. 4621. Date of Electronic Publication: 2022 Aug 08.
Autor:
LaForce GR; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA., Farr JS; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA., Liu J; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA., Akesson C; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA., Gumus E; Department of Medical Genetics, Faculty of Medicine, Mugla Sitki Kocman University, Mugla 48000, Turkey; Department of Medical Genetics, Faculty of Medicine, University of Harran, Sanliurfa 63000, Turkey., Pinkard O; Department of Molecular Biology and Genetics, Johns Hopkins, Baltimore, MD 21205, USA., Miranda HC; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA., Johnson K; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA., Sweet TJ; Department of Molecular Biology and Genetics, Johns Hopkins, Baltimore, MD 21205, USA., Ji P; Department of Biochemistry and Molecular Biology, University of Texas Medical Branch at Galveston, Galveston, TX 77555, USA., Lin A; Department of Etiology and Carcinogenesis, National Cancer Center/National Clinical Research Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, WC67+HC Dongcheng, Beijing, China., Coller J; Department of Molecular Biology and Genetics, Johns Hopkins, Baltimore, MD 21205, USA., Philippidou P; Department of Neurosciences, Case Western Reserve University, Cleveland, OH 44106, USA., Wagner EJ; Department of Biochemistry and Molecular Biology, University of Texas Medical Branch at Galveston, Galveston, TX 77555, USA; Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA., Schaffer AE; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA. Electronic address: ashleigh.schaffer@case.edu.
Publikováno v:
Neuron [Neuron] 2022 Apr 20; Vol. 110 (8), pp. 1340-1357.e7. Date of Electronic Publication: 2022 Feb 08.