المؤلفون: Riggs, ER, Church, DM, Hanson, K, Horner, VL, Kaminsky, EB, Kuhn, RM, Wain, KE, Williams, ES, Aradhya, S, Kearney, HM, Ledbetter, DH, South, ST, Thorland, EC, Martin, CL

المصدر: Clinical Genetics; May2012, Vol. 81 Issue 5, p403-412, 10p, 2 Diagrams

مصطلحات موضوعية: EVIDENCE-based medicine, MEDICAL decision making, GENETIC testing, MICROARRAY technology, GENOMES, PHENOTYPES, MEDICAL genetics

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المؤلفون: Lynch AR; Carbone Cancer Center, University of Wisconsin-Madison, Madison, WI 53705.; McArdle Laboratory for Cancer Research, University of Wisconsin-Madison, Madison, WI 53705., Bradford S; Carbone Cancer Center, University of Wisconsin-Madison, Madison, WI 53705.; McArdle Laboratory for Cancer Research, University of Wisconsin-Madison, Madison, WI 53705., Zhou AS; Carbone Cancer Center, University of Wisconsin-Madison, Madison, WI 53705.; McArdle Laboratory for Cancer Research, University of Wisconsin-Madison, Madison, WI 53705., Oxendine K; Cytogenetic and Molecular Genetic Services Laboratory, Wisconsin State Laboratory of Hygiene, University of Wisconsin-Madison, Madison, WI 53706., Henderson L; Cytogenetic and Molecular Genetic Services Laboratory, Wisconsin State Laboratory of Hygiene, University of Wisconsin-Madison, Madison, WI 53706., Horner VL; Cytogenetic and Molecular Genetic Services Laboratory, Wisconsin State Laboratory of Hygiene, University of Wisconsin-Madison, Madison, WI 53706., Weaver BA; Carbone Cancer Center, University of Wisconsin-Madison, Madison, WI 53705.; McArdle Laboratory for Cancer Research, University of Wisconsin-Madison, Madison, WI 53705.; Department of Cell and Regenerative Biology, University of Wisconsin-Madison, Madison, WI 53705., Burkard ME; Carbone Cancer Center, University of Wisconsin-Madison, Madison, WI 53705.; McArdle Laboratory for Cancer Research, University of Wisconsin-Madison, Madison, WI 53705.; Division of Hematology Oncology and Palliative Care, Department of Medicine University of Wisconsin-Madison, Madison, WI 53705.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Apr 16; Vol. 121 (16), pp. e2309621121. Date of Electronic Publication: 2024 Apr 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomal Instability*/genetics , Neoplasms*, Humans ; Cell Line, Tumor ; Centromere ; Karyotyping ; Gene Expression Profiling ; Chromosome Segregation ; Aneuploidy

المؤلفون: Rohrer CT; Department of Pathology and Laboratory Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Lager AM; Department of Pathology, University of Chicago, Chicago, Illinois, USA., Brooks EG; Department of Pathology and Laboratory Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Horner VL; Department of Pathology and Laboratory Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.; Wisconsin State Laboratory of Hygiene, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

المصدر: Journal of forensic sciences [J Forensic Sci] 2023 Nov; Vol. 68 (6), pp. 2065-2075. Date of Electronic Publication: 2023 Aug 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Blackwell Pub Country of Publication: United States NLM ID: 0375370 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1556-4029 (Electronic) Linking ISSN: 00221198 NLM ISO Abbreviation: J Forensic Sci Subsets: MEDLINE

مواضيع طبية MeSH: Public Health* , Laboratories*, Female ; Humans ; Autopsy ; Genetic Testing ; Death, Sudden/etiology ; Death, Sudden, Cardiac/etiology

المؤلفون: Reinig EF; Department of Pathology and Laboratory Medicine, University of Wisconsin-Madison, Madison, WI, USA., Rubinstein JD; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Oncology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Patil AT; Department of Pathology and Laboratory Medicine, University of Wisconsin-Madison, Madison, WI, USA., Schussman AL; Department of Surgery, University of Wisconsin-Madison, Madison, WI, USA.; Center for Human Genomics and Precision Medicine, University of Wisconsin-Madison, Madison, WI, USA., Horner VL; Wisconsin State Laboratory of Hygiene, University of Wisconsin-Madison, Madison, WI, USA., Kanagal-Shamanna R; Department of Hematopathology and Molecular Diagnostics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA., Churpek JE; Division of Hematology, Medical Oncology, and Palliative Care, Department of Medicine, University of Wisconsin-Madison, Madison, WI, USA.; Wisconsin Blood Cancer Research Institute, Madison, WI, USA., Matson DR; Department of Pathology and Laboratory Medicine, University of Wisconsin-Madison, Madison, WI, USA. drmatson@wisc.edu.; Wisconsin Blood Cancer Research Institute, Madison, WI, USA. drmatson@wisc.edu.

المصدر: Leukemia [Leukemia] 2023 Aug; Vol. 37 (8), pp. 1589-1599. Date of Electronic Publication: 2023 Jul 01.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Nature Publishing Group, Specialist Journals Country of Publication: England NLM ID: 8704895 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5551 (Electronic) Linking ISSN: 08876924 NLM ISO Abbreviation: Leukemia Subsets: MEDLINE

مواضيع طبية MeSH: Leukemia, Myeloid, Acute*/diagnosis , Myeloproliferative Disorders*/diagnosis , Myeloproliferative Disorders*/genetics, Humans ; Genetic Predisposition to Disease ; Syndrome ; Multiple Organ Failure ; Germ-Line Mutation

المؤلفون: Guo Y; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA., Shen M; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA., Dong Q; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA., Méndez-Albelo NM; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA., Huang SX; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA., Sirois CL; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA., Le J; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA., Li M; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA., Jarzembowski ED; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA., Schoeller KA; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA., Stockton ME; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA., Horner VL; Department of Pathology and Laboratory Medicine, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Wisconsin State Laboratory of Hygiene, University of Wisconsin-Madison, Madison, WI, 53705, USA., Sousa AMM; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA., Gao Y; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA., Levine JE; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Wisconsin National Primate Research Center, University of Wisconsin-Madison, Madison, WI, 53715, USA., Wang D; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Departments of Biostatistics and Medical Informatics, University of Wisconsin-Madison, Madison, WI, 53705, USA., Chang Q; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Department of Medical Genetics, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Department of Neurology, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA., Zhao X; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA. xinyu.zhao@wisc.edu.; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, 53705, USA. xinyu.zhao@wisc.edu.

مؤلفون مشاركون: Birth Defects Research Laboratory

المصدر: Nature communications [Nat Commun] 2023 Jun 26; Vol. 14 (1), pp. 3801. Date of Electronic Publication: 2023 Jun 26.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder*/genetics , Fragile X Syndrome*/genetics , Fragile X Syndrome*/metabolism, Adult ; Humans ; Animals ; Mice ; Male ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism ; Social Behavior ; Autophagy/genetics ; Microtubule-Associated Proteins/genetics ; Microtubule-Associated Proteins/metabolism

المؤلفون: Lynch AR; Carbone Cancer Center, University of Wisconsin - Madison, Madison, WI, USA.; McArdle Laboratory for Cancer Research, University of Wisconsin - Madison, Madison, WI, USA., Bradford S; Carbone Cancer Center, University of Wisconsin - Madison, Madison, WI, USA.; McArdle Laboratory for Cancer Research, University of Wisconsin - Madison, Madison, WI, USA., Zhou AS; Carbone Cancer Center, University of Wisconsin - Madison, Madison, WI, USA.; McArdle Laboratory for Cancer Research, University of Wisconsin - Madison, Madison, WI, USA., Oxendine K; Wisconsin State Laboratory of Hygiene, University of Wisconsin - Madison, Madison, WI, USA., Henderson L; Wisconsin State Laboratory of Hygiene, University of Wisconsin - Madison, Madison, WI, USA., Horner VL; Wisconsin State Laboratory of Hygiene, University of Wisconsin - Madison, Madison, WI, USA., Weaver BA; Carbone Cancer Center, University of Wisconsin - Madison, Madison, WI, USA.; McArdle Laboratory for Cancer Research, University of Wisconsin - Madison, Madison, WI, USA.; Department of Cell and Regenerative Biology, University of Wisconsin - Madison, Madison, WI, USA., Burkard ME; Carbone Cancer Center, University of Wisconsin - Madison, Madison, WI, USA.; McArdle Laboratory for Cancer Research, University of Wisconsin - Madison, Madison, WI, USA.; Division of Hematology Oncology and Palliative Care, Department of Medicine, University of Wisconsin - Madison, Madison, WI, USA.

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2023 Jun 15. Date of Electronic Publication: 2023 Jun 15.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

المؤلفون: Deignan JL; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA Health, Los Angeles, CA., De Castro M; DHA Genetics Reference Laboratory, Air Force Medical Genetics Center, Keesler Air Force Base, Biloxi, MS; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Horner VL; Department of Pathology and Laboratory Medicine, School of Medicine and Public Health, University of Wisconsin, Madison, WI; Wisconsin State Laboratory of Hygiene, University of Wisconsin, Madison, WI., Johnston T; Ambry Genetics, Aliso Viejo, CA., Macaya D; GeneDx, Inc, Gaithersburg, MD., Maleszewski JJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Reddi HV; Department of Pathology & Laboratory Medicine, Medical College of Wisconsin, Milwaukee, WI., Tayeh MK; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.

مؤلفون مشاركون: ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net; American College of Medical Genetics and Genomics, Bethesda, MD.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 May; Vol. 25 (5), pp. 100017. Date of Electronic Publication: 2023 Feb 16.

نوع المنشور: Practice Guideline; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetics, Medical*, Humans ; United States ; Genomics ; Genetic Testing

المؤلفون: Matson DR, Accola MA, Henderson L, Shao X, Frater-Rubsam L, Horner VL, Rehrauer WM, Weisman P, Xu J

المصدر: International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists [Int J Gynecol Pathol] 2022 Jul 01; Vol. 41 (4), pp. 378-388. Date of Electronic Publication: 2021 Aug 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8214845 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7151 (Electronic) Linking ISSN: 02771691 NLM ISO Abbreviation: Int J Gynecol Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Carcinoma, Endometrioid*/diagnosis , Carcinoma, Endometrioid*/genetics , Carcinoma, Endometrioid*/metabolism , Cystadenocarcinoma, Serous*/genetics , Endometrial Neoplasms*/diagnosis , Endometrial Neoplasms*/genetics , Endometrial Neoplasms*/metabolism, Biomarkers, Tumor/genetics ; Biomarkers, Tumor/metabolism ; Cyclin-Dependent Kinase Inhibitor p16/metabolism ; Female ; Homozygote ; Humans ; Sequence Deletion ; Staining and Labeling

المؤلفون: Gonzales PR; University of Kansas Medical Center, Kansas City, KS., Andersen EF; ARUP Laboratories, Salt Lake City, UT; The University of Utah, Salt Lake City, UT., Brown TR; The University of Utah, Salt Lake City, UT., Horner VL; University of Wisconsin-Madison, Madison, WI., Horwitz J; Labcorp, Santa Fe, NM., Rehder CW; Duke University Health System, Durham, NC., Rudy NL; The University of Alabama at Birmingham, Birmingham, AL., Robin NH; The University of Alabama at Birmingham, Birmingham, AL., Thorland EC; Mayo Clinic, Rochester, MN., On Behalf Of The Acmg Laboratory Quality Assurance Committee; American College of Medical Genetics and Genomics, Bethesda, MD. Electronic address: documents@acmg.net.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Feb; Vol. 24 (2), pp. 255-261. Date of Electronic Publication: 2021 Dec 03.

نوع المنشور: Practice Guideline; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetics, Medical* , Uniparental Disomy*, Consanguinity ; Genomics ; Homozygote ; Humans ; Polymorphism, Single Nucleotide/genetics ; United States