Zobrazeno 1 - 10 of 190 pro vyhledávání: '"Ramadesikan S"'
1
Akademický článek
Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes.
Autor: Showpnil IA; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., E Hernandez Gonzalez M; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Ramadesikan S; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Marhabaie M; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Daley A; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Dublin-Ryan L; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Pastore MT; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University, Columbus, OH, USA., Gurusamy U; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Hunter JM; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University, Columbus, OH, USA., Stone BS; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University, Columbus, OH, USA., Bartholomew DW; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University, Columbus, OH, USA., Manickam K; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University, Columbus, OH, USA., Miller AR; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Wilson RK; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University, Columbus, OH, USA., Stottmann RW; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University, Columbus, OH, USA., Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA. Daniel.Koboldt@nationwidechildrens.org.; Department of Pediatrics, The Ohio State University, Columbus, OH, USA. Daniel.Koboldt@nationwidechildrens.org.
Publikováno v: NPJ genomic medicine [NPJ Genom Med] 2024 Dec 18; Vol. 9 (1), pp. 66. Date of Electronic Publication: 2024 Dec 18.
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2
Akademický článek
Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome.
Autor: Ramadesikan S; Steve and Cindy Rasmussen Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA. Electronic address: swetha.ramadesikan@nationwidechildrens.org., Showpnil IA; Steve and Cindy Rasmussen Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Marhabaie M; Steve and Cindy Rasmussen Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Daley A; Steve and Cindy Rasmussen Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Varga EA; Steve and Cindy Rasmussen Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Gurusamy U; Steve and Cindy Rasmussen Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Pastore MT; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., Sites ER; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Manickam M; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., Bartholomew DW; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., Hunter JM; Steve and Cindy Rasmussen Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., White P; Steve and Cindy Rasmussen Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., Wilson RK; Steve and Cindy Rasmussen Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., Stottmann RW; Steve and Cindy Rasmussen Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., Koboldt DC; Steve and Cindy Rasmussen Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA. Electronic address: daniel.koboldt@nationwidechildrens.org.
Publikováno v: HGG advances [HGG Adv] 2024 Nov 04; Vol. 6 (1), pp. 100379. Date of Electronic Publication: 2024 Nov 04.
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3
Akademický článek
A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity.
Autor: Stojkic I; Division of Pediatric Rheumatology, Nationwide Children's Hospital, Columbus, OH, USA. Electronic address: Ivana.Stojkic@nationwidechildrens.org., Prince BT; Division of Allergy and Immunology, Nationwide Children's Hospital, Columbus, OH, USA., Kuehn HS; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, NIH, Bethesda, MD, USA., Gil Silva AA; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, NIH, Bethesda, MD, USA., Varga EA; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA., Rosenzweig SD; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, NIH, Bethesda, MD, USA., Ramadesikan S; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA., Supinger R; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA., Marhabaie M; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA., Chang P; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA., Mardis ER; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., Koboldt DC; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.
Publikováno v: Clinical immunology (Orlando, Fla.) [Clin Immunol] 2024 Jul; Vol. 264, pp. 110244. Date of Electronic Publication: 2024 May 09.
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4
Akademický článek
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5
Report
Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review.
Autor: Gurusamy U; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, United States., Ramadesikan S; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, United States., Marhabaie M; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, United States., Colwell CM; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, United States., Hunter JM; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, United States.; Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, OH, United States.; Department of Pathology, Wexner Medical Center, The Ohio State University, Columbus, OH, United States., Leung ML; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, United States.; Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, OH, United States.; Department of Pathology, Wexner Medical Center, The Ohio State University, Columbus, OH, United States., Mardis ER; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, United States.; Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, OH, United States., White P; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, United States.; Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, OH, United States., Manickam M; Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, OH, United States.; Division of Genetics and Genomics, Nationwide Children's Hospital, Columbus, OH, United States., Wilson RK; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, United States.; Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, OH, United States., Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, United States.; Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, OH, United States.
Publikováno v: Frontiers in genetics [Front Genet] 2024 Jan 18; Vol. 14, pp. 1298574. Date of Electronic Publication: 2024 Jan 18 (Print Publication: 2023).
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6
Akademický článek
Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system.
Autor: Ramadesikan S; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Colwell CM; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Supinger R; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Hunter J; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Thomas J; Department of Pediatric Colorectal & Pelvic Reconstructive Surgery, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Varga E; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Mardis ER; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43210, USA., Wood RJ; Department of Pediatric Colorectal & Pelvic Reconstructive Surgery, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Surgery, The Ohio State University College of Medicine, Columbus, Ohio 43210, USA., Koboldt DC; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA; Daniel.Koboldt@nationwidechildrens.org.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43210, USA.
Publikováno v: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2024 Jan 10; Vol. 9 (4). Date of Electronic Publication: 2024 Jan 10 (Print Publication: 2023).
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7
Akademický článek
Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes.
Autor: Lee JJ; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.; Purdue Institute for Cancer Research, Purdue University, West Lafayette, IN 47907, USA., Ramadesikan S; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.; Purdue Institute for Cancer Research, Purdue University, West Lafayette, IN 47907, USA., Black AF; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.; Purdue Institute for Cancer Research, Purdue University, West Lafayette, IN 47907, USA., Christoffer C; Department of Computer Science, Purdue University, West Lafayette, IN 47907, USA., Pacheco AFP; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.; Purdue Institute for Cancer Research, Purdue University, West Lafayette, IN 47907, USA., Subramanian S; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.; Purdue Institute for Cancer Research, Purdue University, West Lafayette, IN 47907, USA., Hanna CB; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.; Purdue Institute for Cancer Research, Purdue University, West Lafayette, IN 47907, USA., Barth G; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.; Purdue Institute for Cancer Research, Purdue University, West Lafayette, IN 47907, USA., Stauffacher CV; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.; Purdue Institute for Cancer Research, Purdue University, West Lafayette, IN 47907, USA., Kihara D; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.; Purdue Institute for Cancer Research, Purdue University, West Lafayette, IN 47907, USA.; Department of Computer Science, Purdue University, West Lafayette, IN 47907, USA., Aguilar RC; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.; Purdue Institute for Cancer Research, Purdue University, West Lafayette, IN 47907, USA.
Publikováno v: Biomolecules [Biomolecules] 2023 Mar 29; Vol. 13 (4). Date of Electronic Publication: 2023 Mar 29.
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8
Akademický článek
Cerebral organoids containing an AUTS2 missense variant model microcephaly.
Autor: Fair SR; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Schwind W; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Julian DL; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Biel A; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Guo G; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Rutherford R; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Ramadesikan S; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Westfall J; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Miller KE; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Kararoudi MN; Center for Childhood Cancer and Blood Diseases, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Division of Genetic and Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Mosher TM; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., McBride KL; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Division of Genetic and Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.; Center for Cardiovascular Research, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Neinast R; Center for Cardiovascular Research, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Fitch J; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Lee DA; Center for Childhood Cancer and Blood Diseases, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., White P; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., Wilson RK; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., Bedrosian TA; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., Hester ME; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Department of Neuroscience, The Ohio State University, Columbus, OH, USA.
Publikováno v: Brain : a journal of neurology [Brain] 2023 Jan 05; Vol. 146 (1), pp. 387-404.
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9
Role of Ocrl1 and Inpp5E in primary cilia assembly and maintenance: a phosphatidylinositol phosphatase relay system?
Autor: Madhivanan K, Ramadesikan S, Aguilar RC
Publikováno v: Research and Reports in Biology, Vol 2016, Iss Issue 1, Pp 15-29 (2016)
Kayalvizhi Madhivanan,* Swetha Ramadesikan,* R Claudio Aguilar Department of Biological Sciences, Purdue University, West Lafayette, IN, USA *These authors contributed equally to this work Abstract: The primary cilium (PC) is a plasma membrane-derive
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doajarticles::bdfca8b9e79584852f207d0545a43279
https://www.dovepress.com/role-of-ocrl1-and-inpp5e-in-primary-cilia-assembly-and-maintenance-a-p-peer-reviewed-article-RRB
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10
Akademický článek
The Future of Genetic Disease Studies: Assembling an Updated Multidisciplinary Toolbox.
Autor: Ramadesikan S; Department of Biological Sciences, Purdue University, West Lafayette, IN, United States., Lee J; Department of Biological Sciences, Purdue University, West Lafayette, IN, United States., Aguilar RC; Department of Biological Sciences, Purdue University, West Lafayette, IN, United States.
Publikováno v: Frontiers in cell and developmental biology [Front Cell Dev Biol] 2022 Apr 28; Vol. 10, pp. 886448. Date of Electronic Publication: 2022 Apr 28 (Print Publication: 2022).
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