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2
A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization. 미리보기

보고서

issue
Frontiers in cellular neuroscience [Front Cell Neurosci] 2023 Sep 26; Vol. 17, pp. 1259380. Date of Electronic Publication: 2023 Sep 26 (Print Publication: 2023).
Author
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.
DB Label
Database : MEDLINE
원문보기
Open Access (PubMed Central)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
3
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels. 미리보기

학술저널

issue
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.
Author
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.
DB Label
Database : MEDLINE
원문보기
Full Text (ScienceDirect O/A)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
4
Diagnoses of uncertain significance: kidney genetics in the 21st century. 미리보기

학술저널

issue
Nature reviews. Nephrology [Nat Rev Nephrol] 2020 Nov; Vol. 16 (11), pp. 616-618.
Author
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.
DB Label
Database : MEDLINE
원문보기
Full Text (Nature)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
5
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. 미리보기

학술저널

issue
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.
Author
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.
DB Label
Database : MEDLINE
원문보기
Open Access (PubMed Central)  Full Text (ScienceDirect O/A)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
8
Online resources for genomic structural variation. 미리보기

학술저널

issue
Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2012; Vol. 838, pp. 273-89.
Author
Sneddon TP; NCBI, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
Church DM
DB Label
Database : MEDLINE
원문보기
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