Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Marshall M. Summar"'
Autor:
Summar M; George Washington University, Maryland, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Nov; Vol. 47 (6), pp. 1260-1268.
Autor:
Bramble MS; Center for Genetic Medicine Research, Children's Research Institute, Children's National Hospital, Washington, DC, USA. mbramble@childrensnational.org.; Department of Genomics and Precision Medicine, The George Washington University of Medicine and Health Sciences, Washington, DC, USA. mbramble@childrensnational.org., Fourcassié V; Computational Biology Laboratory and The Proteomics Platform, CHU de Québec - Université Laval Research Center, Québec City, QC, Canada., Vashist N; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Roux-Dalvai F; Computational Biology Laboratory and The Proteomics Platform, CHU de Québec - Université Laval Research Center, Québec City, QC, Canada., Zhou Y; Center for Genetic Medicine Research, Children's Research Institute, Children's National Hospital, Washington, DC, USA., Bumoko G; Department of Neurology, Kinshasa University, Kinshasa, Democratic Republic of the Congo., Kasendue ML; Institut National de Recherche Biomédicale (INRB), Kinshasa, Democratic Republic of the Congo., Spencer D; Center for Genetic Medicine Research, Children's Research Institute, Children's National Hospital, Washington, DC, USA., Musasa Hanshi-Hatuhu H; Department of Neurology, Kinshasa University, Kinshasa, Democratic Republic of the Congo.; Institut National de Recherche Biomédicale (INRB), Kinshasa, Democratic Republic of the Congo., Kambale-Mastaki V; Institut National de Recherche Biomédicale (INRB), Kinshasa, Democratic Republic of the Congo., Manalo RVM; Biological Models Laboratory, Department of Biochemistry and Molecular Biology, College of Medicine, University of the Philippines, Manila, Ermita, Manila, Philippines., Mohammed A; Center for Genetic Medicine Research, Children's Research Institute, Children's National Hospital, Washington, DC, USA., McIlwain DR; Department of Microbiology and Immunology, University of Nevada, Reno School of Medicine, Reno, NV, USA., Cunningham G; Center for Genetic Medicine Research, Children's Research Institute, Children's National Hospital, Washington, DC, USA., Summar M; Center for Genetic Medicine Research, Children's Research Institute, Children's National Hospital, Washington, DC, USA., Boivin MJ; Departments of Psychiatry and Neurology & Ophthalmology, Michigan State University, East Lansing, MI, USA., Caldovic L; Center for Genetic Medicine Research, Children's Research Institute, Children's National Hospital, Washington, DC, USA.; Department of Genomics and Precision Medicine, The George Washington University of Medicine and Health Sciences, Washington, DC, USA., Vilain E; Institute for Clinical and Translational Science, University of California, Irvine, CA, USA., Mumba-Ngoyi D; Institut National de Recherche Biomédicale (INRB), Kinshasa, Democratic Republic of the Congo., Tshala-Katumbay D; Institut National de Recherche Biomédicale (INRB), Kinshasa, Democratic Republic of the Congo. tshalad@OHSU.edu.; Department of Neurology, Oregon Health & Science University, Portland, OR, USA. tshalad@OHSU.edu., Droit A; Computational Biology Laboratory and The Proteomics Platform, CHU de Québec - Université Laval Research Center, Québec City, QC, Canada. arnaud.droit@crchudequebec.ulaval.ca.
Publikováno v:
Nature communications [Nat Commun] 2024 Sep 06; Vol. 15 (1), pp. 7811. Date of Electronic Publication: 2024 Sep 06.
Autor:
Micham J; Vanderbilt Institute for Clinical and Translational Research (VICTR), Vanderbilt University Medical Center, Nashville, TN. Electronic address: jennifer.micham@vumc.org., Summar M; Uncommon Cures, Chevy Chase, MD., Regier D; Children's National Rare Disease Institute, Children's National Hospital, Washington, DC., Lawrence C; Vanderbilt Institute for Clinical and Translational Research (VICTR), Vanderbilt University Medical Center, Nashville, TN., Burkardt D; Children's National Rare Disease Institute, Children's National Hospital, Washington, DC.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 03; Vol. 26 (12), pp. 101247. Date of Electronic Publication: 2024 Sep 03.
Autor:
Baynam G; Rare Care Centre, Perth Children's Hospital, Perth, WA, Australia., Baker S; Genomics England, London, UK.; HealthWeb Solutions, London, UK.; School of Health Studies, University of Western Ontario, London, ON, Canada., Steward C; Genomics England, London, UK.; HealthWeb Solutions, London, UK., Summar M; Uncommon Cures, Washington, DC, USA., Halley M; Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA, USA., Pariser A; Columbus, OH, USA. anne.pariser@gmail.com.
Publikováno v:
Pharmaceutical medicine [Pharmaceut Med] 2024 Jul; Vol. 38 (4), pp. 261-276. Date of Electronic Publication: 2024 Jul 09.
The past, present, and future of child growth monitoring: A review and primer for clinical genetics.
Autor:
Shur N; Rare Disease Institute, Children's National Research and Innovation Campus, Washington, District of Columbia, USA.; The Sheikh Zayed Institute for Pediatric Surgical Innovation Children's National Hospital, Washington, District of Columbia, USA., Tigranyan A; The Sheikh Zayed Institute for Pediatric Surgical Innovation Children's National Hospital, Washington, District of Columbia, USA., Daymont C; Penn State College of Medicine, Hershey, Pennsylvania, USA., Regier DS; Rare Disease Institute, Children's National Research and Innovation Campus, Washington, District of Columbia, USA., Raturi S; The Sheikh Zayed Institute for Pediatric Surgical Innovation Children's National Hospital, Washington, District of Columbia, USA., Roshan Lal T; The Sheikh Zayed Institute for Pediatric Surgical Innovation Children's National Hospital, Washington, District of Columbia, USA., Cleary K; The Sheikh Zayed Institute for Pediatric Surgical Innovation Children's National Hospital, Washington, District of Columbia, USA., Summar M; The Sheikh Zayed Institute for Pediatric Surgical Innovation Children's National Hospital, Washington, District of Columbia, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Apr; Vol. 191 (4), pp. 948-961. Date of Electronic Publication: 2023 Jan 28.
Autor:
Adachi T; Department of Dermatology, Keio University School of Medicine, Tokyo 160-8582, Japan.; Department of Medical Regulatory Science, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.; United Japanese-Researchers Around-the-World (UJA), Isehara 259-1143, Japan., El-Hattab AW; Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah 27272, United Arab Emirates.; MENA (Middle East and North Africa) Organization for Rare Diseases, Dubai 500767, United Arab Emirates.; Department of Pediatrics, University Hospital Sharjah, Sharjah 72772, United Arab Emirates., Jain R; Dystrophic Epidermolysis Bullosa Research Association (DEBRA), Singapore 059811, Singapore.; Asia Pacific Alliance of Rare Disease Organizations (APARDO), Singapore 188976, Singapore.; Language and Communication Centre, School of Humanities and Social Sciences, Nanyang Technological University, Singapore 639798, Singapore., Nogales Crespo KA; Policy Wisdom LLC, Quebradillas 00678-2705, Puerto Rico., Quirland Lazo CI; Health Technology Assessment Unit, Cancer Research Department, Arturo López Perez Foundation, Santiago 7500921, Chile.; School of Medicine, Universitat Autònoma de Barcelona, 080193 Barcelona, Spain.; Faculty of Pharmaceutical and Chemical Sciences, University of Chile, Santiago 8380000, Chile., Scarpa M; European Reference Network for Hereditary Metabolic Diseases (MetabERN), 33100 Udine, Italy.; Regional Coordinating Center for Rare Diseases Friuli Venezia Giulia, Udine University Hospital, 33100 Udine, Italy.; Brains for Brain Foundation, 35128 Padova, Italy., Summar M; The Translational Science Training Program, National Institutes of Health (NIH), Maryland, MD 20814, USA.; Children's National Medical Centre, Washington, DC 20010, USA.; National Organization for Rare Disorders (NORD), Quincy, MA 02169, USA.; Children's National Rare Disease Institute, Washington, DC 20012, USA.; Department of Pediatrics, George Washington University, Washington, DC 20052, USA., Wattanasirichaigoon D; Thai Rare Disease Foundation (ThaiRDF), Bangkok 10230, Thailand.; Prader-Willi Syndrome Association (PWSA) of Thailand, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.; Rare Disease Working Committee, Thai National Health Security Office (NHSO), Bangkok 10210, Thailand.; Sub-Working Committee for Rare Disease Medicine, Thailand National List of Essential Medicines (NLEM), National Drug Policy Division, Food and Drug Administration, Nonthaburi 11000, Thailand.; Medical Genetics Network, Genetics Society of Thailand, Bangkok 10330, Thailand.; Thailand Medical Genetics and Genomics Association (TMGGA), Bangkok 10510, Thailand.; Asia Pacific Society of Human Genetics (APSHG), Singapore 229899, Singapore.; Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
Publikováno v:
International journal of environmental research and public health [Int J Environ Res Public Health] 2023 Mar 08; Vol. 20 (6). Date of Electronic Publication: 2023 Mar 08.
Autor:
Zhou Y; Divisions of Genetics, Children's National Hospital, George Washington University of Health Sciences, United States of America., Yu X; Department of Data Science, University of Mississippi Medical Center, United States of America., Nicely A; Hematology, Children's National Hospital, George Washington University of Health Sciences, United States of America., Cunningham G; Divisions of Genetics, Children's National Hospital, George Washington University of Health Sciences, United States of America., Challa C; Anesthesia, Children's National Hospital, George Washington University of Health Sciences, United States of America., McKinley K; Emergency Department, Children's National Hospital, George Washington University of Health Sciences, United States of America., Nickel R; Hematology, Children's National Hospital, George Washington University of Health Sciences, United States of America., Campbell A; Hematology, Children's National Hospital, George Washington University of Health Sciences, United States of America., Darbari D; Hematology, Children's National Hospital, George Washington University of Health Sciences, United States of America., Summar M; Divisions of Genetics, Children's National Hospital, George Washington University of Health Sciences, United States of America., Majumdar S; Hematology, Children's National Hospital, George Washington University of Health Sciences, United States of America. Electronic address: smajumdar@childrensnational.org.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2022 Sep-Oct; Vol. 137 (1-2), pp. 146-152. Date of Electronic Publication: 2022 Aug 20.
Autor:
Kirmse B; From the Division of Genetics & Metabolism, Children's National Health System, Washington, DC.; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Hobbs C; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS.; Division of Pediatric Infectious Disease and Immunology, New York University/Langone School of Medicine, New York., Aaron L; Harvard TH Chan School of Public Health, Center for Biostatistics in AIDS Research, Boston, MA., Montepiedra G; Harvard TH Chan School of Public Health, Center for Biostatistics in AIDS Research, Boston, MA., Summar M; From the Division of Genetics & Metabolism, Children's National Health System, Washington, DC., Williams PL; Harvard TH Chan School of Public Health, Center for Biostatistics in AIDS Research, Boston, MA., Smith CJ; Department of Epidemiology, University of Iowa, College of Public Health, Iowa City, IA., Van Dyke R; Tulane University School of Medicine, New Orleans, LA., Yu C; Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, Laboratory of Biochemical Genetics, New York, NY., Ryckman KK; Department of Epidemiology, University of Iowa, College of Public Health, Iowa City, IA., Borkowsky W; Division of Pediatric Infectious Disease and Immunology, New York University/Langone School of Medicine, New York.
Publikováno v:
The Pediatric infectious disease journal [Pediatr Infect Dis J] 2022 Aug 01; Vol. 41 (8), pp. e306-e311. Date of Electronic Publication: 2022 Jul 13.
Autor:
Porras AR; Department of Biostatistics & Informatics, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA. Electronic address: antonio.porras@cuanschutz.edu., Rosenbaum K; Rare Disease Institute, Department of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA., Tor-Diez C; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Hospital, Washington, DC, USA., Summar M; Rare Disease Institute, Department of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA., Linguraru MG; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Hospital, Washington, DC, USA; Department of Biomedical Engineering, School of Engineering and Applied Science, George Washington University, Washington, DC, USA; Department of Pediatrics and Department of Radiology, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA.
Publikováno v:
The Lancet. Digital health [Lancet Digit Health] 2022 May; Vol. 4 (5), pp. e296.
Autor:
Douglass M; Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA., Dikalova A; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Kaplowitz MR; Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA., Zhang Y; Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA., Cunningham G; Division of Genetics and Metabolism, Children's National Medical Center, Washington, District of Columbia, USA., Summar M; Division of Genetics and Metabolism, Children's National Medical Center, Washington, District of Columbia, USA., Fike CD; Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA.
Publikováno v:
Physiological reports [Physiol Rep] 2021 Nov; Vol. 9 (21), pp. e15096.