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pro vyhledávání: '"Kearney, HM"'
Akademický článek
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Akademický článek
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Autor:
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
Publikováno v:
Clinical Genetics; May2012, Vol. 81 Issue 5, p403-412, 10p, 2 Diagrams
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Pathology, Harvard Medical School, Boston, MA. Electronic address: hrehm@mgh.harvard.edu., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Aradhya S; Invitae, San Francisco, CA; Department of Pathology, Stanford University School of Medicine, Palo Alto, CA., Bayrak-Toydemir P; ARUP Laboratories, Salt Lake City, UT; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT., Best H; ARUP Laboratories, Salt Lake City, UT; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT., Brandon R; GeneDx, LLC, Gaithersburg, MD., Buchan JG; Genetics Division, Laboratory Medicine and Pathology, University of Washington, Seattle, WA., Chao EC; Ambry Genetics, Aliso Viejo, CA., Chen E; Invitae, San Francisco, CA., Clifford J; Ambry Genetics, Aliso Viejo, CA., Cohen ASA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Conlin LK; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA; Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA., Das S; Human Genetics, University of Chicago, Chicago, IL., Davis KW; Variantyx, Framingham, MA., Del Gaudio D; Human Genetics, University of Chicago, Chicago, IL., Del Viso F; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO., DiVincenzo C; Quest Diagnostics, Marlborough, MA., Eisenberg M; Women's Health and Genetics, Labcorp, Research Triangle Park, NC., Guidugli L; Rady Children's Institute for Genomic Medicine, San Diego, CA., Hammer MB; Rady Children's Institute for Genomic Medicine, San Diego, CA., Harrison SM; Ambry Genetics, Aliso Viejo, CA., Hatchell KE; Invitae, San Francisco, CA., Dyer LH; GeneDx, LLC, Gaithersburg, MD., Hoang LU; Ambry Genetics, Aliso Viejo, CA., Holt JM; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL., Jobanputra V; Molecular Diagnostics, New York Genome Center, New York, NY; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY., Karbassi ID; Quest Diagnostics, Marlborough, MA., Kearney HM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Kelly MA; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL., Kelly JM; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL., Kluge ML; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Komala T; Ambry Genetics, Aliso Viejo, CA., Kruszka P; GeneDx, LLC, Gaithersburg, MD., Lau L; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Lebo MS; Pathology, Harvard Medical School, Boston, MA; Laboratory for Molecular Medicine, Mass General Brigham, Cambridge, MA., Marshall CR; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., McKnight D; Invitae, San Francisco, CA., McWalter K; GeneDx, LLC, Gaithersburg, MD., Meng Y; Fulgent Genetics, Temple City, CA., Nagan N; Women's Health and Genetics, Labcorp, Westborough, MA., Neckelmann CS; Fulgent Genetics, Temple City, CA., Neerman N; Variantyx, Framingham, MA., Niu Z; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Paolillo VK; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO., Paolucci SA; Genetics Division, Laboratory Medicine and Pathology, University of Washington, Seattle, WA., Perry D; Illumina, Inc, San Diego, CA., Pesaran T; Ambry Genetics, Aliso Viejo, CA., Radtke K; Ambry Genetics, Aliso Viejo, CA., Rasmussen KJ; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Retterer K; GeneDx, LLC, Gaithersburg, MD., Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics and Pathology, School of Medicine, University of Missouri, Kansas City, MO., Spiteri E; Department of Pathology, Stanford Medicine, Palo Alto, CA., Stanley C; Variantyx, Framingham, MA., Szuto A; Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada., Taft RJ; Illumina, Inc, San Diego, CA., Thiffault I; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Thomas BC; Illumina, Inc, San Diego, CA., Thomas-Wilson A; Molecular Diagnostics, New York Genome Center, New York, NY., Thorpe E; Illumina, Inc, San Diego, CA., Tidwell TJ; ARUP Laboratories, Salt Lake City, UT., Towne MC; Ambry Genetics, Aliso Viejo, CA., Zouk H; Pathology, Harvard Medical School, Boston, MA; Laboratory for Molecular Medicine, Mass General Brigham, Cambridge, MA.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Dec; Vol. 25 (12), pp. 100947. Date of Electronic Publication: 2023 Jul 30.
Autor:
Shen W; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota. Electronic address: shen.wei@mayo.edu., Sellers HL; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Choate LA; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Stein MI; Division of Computational Biology, Mayo Clinic Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., Tandale PP; Division of Computational Biology, Mayo Clinic Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., Tan J; Division of Computational Biology, Mayo Clinic Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., Setlem R; Division of Computational Biology, Mayo Clinic Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., Sakai Y; Division of Computational Biology, Mayo Clinic Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., Fadra N; Division of Computational Biology, Mayo Clinic Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., Sosa C; Division of Computational Biology, Mayo Clinic Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., McClelland SP; Division of Computational Biology, Mayo Clinic Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota., Barnett SS; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Rasmussen KJ; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Runke CK; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Smoley SA; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Tillmans LS; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Marcou CA; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Rowsey RA; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Thorland EC; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Boczek NJ; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Kearney HM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota. Electronic address: kearney.hutton@mayo.edu.
Publikováno v:
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2023 Jul; Vol. 25 (7), pp. 524-531. Date of Electronic Publication: 2023 Apr 23.
Autor:
Lopour MQR; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Schimmenti LA; Department of Clinical Genomics and Department of Otolaryngology, Biochemistry and Molecular Biology, and Ophthalmology, Mayo Clinic, Rochester, MN, USA., Boczek NJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Kearney HM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Drack AV; Department of Ophthalmology, University of Iowa and the University of Iowa Institute for Vision Research, Iowa City, IA, USA., Brodsky MC; Department of Ophthalmology and Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Publikováno v:
American journal of ophthalmology case reports [Am J Ophthalmol Case Rep] 2022 Dec 31; Vol. 29, pp. 101745. Date of Electronic Publication: 2022 Dec 31 (Print Publication: 2023).
Autor:
Austin-Tse CA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. ctse@mgh.harvard.edu.; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA. ctse@mgh.harvard.edu.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. ctse@mgh.harvard.edu., Jobanputra V; Molecular Diagnostics Laboratory, New York Genome Center, New York, NY, USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Perry DL; Illumina Inc., San Diego, CA, USA., Bick D; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Taft RJ; Illumina Inc., San Diego, CA, USA., Venner E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Young T; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Barnett S; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Belmont JW; Illumina Inc., San Diego, CA, USA., Boczek N; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Chowdhury S; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Ellsworth KA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Guha S; Molecular Diagnostics Laboratory, New York Genome Center, New York, NY, USA., Kulkarni S; Baylor Genetics and Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Marcou C; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Meng L; Baylor Genetics and Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Murdock DR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Rehman AU; Molecular Diagnostics Laboratory, New York Genome Center, New York, NY, USA., Spiteri E; Department of Pathology, Stanford Medicine, Stanford University, Stanford, CA, USA., Thomas-Wilson A; Molecular Diagnostics Laboratory, New York Genome Center, New York, NY, USA., Kearney HM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Publikováno v:
NPJ genomic medicine [NPJ Genom Med] 2022 Apr 08; Vol. 7 (1), pp. 27. Date of Electronic Publication: 2022 Apr 08.
Autor:
Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France. Electronic address: bertrand.isidor@chu-nantes.fr., Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald, Germany., Hurst A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Vincent M; Service de Génétique Médicale, CHU Nantes, Nantes, France., Bader I; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Rudy NL; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Cogne B; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Mayr J; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Brehm A; Octapharma Biopharmaceuticals GmbH, Berlin, Germany., Bupp C; Spectrum Health Helen DeVos Children's Hospital, Grand Rapids, MI., Warren K; Progenity, Inc, Louisville, KY., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Gerard A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX., Ranells JD; Department of Pediatrics, University of South Florida, Tampa, FL., Metcalfe KA; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust and Institute of Human Development, University of Manchester, Manchester, United Kingdom., van Bever Y; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Jiang YH; Department of Genetics, Yale School of Medicine, New Haven, CT; Department of Neurobiology, Duke University School of Medicine, Durham, NC; Department of Pediatrics, Duke University School of Medicine, Durham, NC., Mendelssohn BA; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, CA., Cope H; Department of Pediatrics, Duke University School of Medicine, Durham, NC., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX., Blackburn PR; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Goodenberger ML; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Kearney HM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Kennedy J; Clinical Genetics, University Hospitals Bristol, Bristol, United Kingdom; University of Bristol, Bristol, United Kingdom., Scurr I; Clinical Genetics, University Hospitals Bristol, Bristol, United Kingdom; University of Bristol, Bristol, United Kingdom., Szczaluba K; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., de Saint Martin A; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Strasbourg, Strasbourg, France., Alembik Y; Department of Clinical Genetic, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Piton A; Unité de Génétique Moléculaire Strasbourg University Hospital, 1 place de l'Hôpital, Strasbourg Cedex, France., Bruel AL; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France; Génétique des Anomalies du Développement, Inserm UMR 1231, Université de Bourgogne, Dijon, France; Centre de Génétique et Centre de Référence Déficience Intellectuelle de causes rares, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France., Thauvin-Robinet C; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon-Bourgogne, Dijon, France; INSERM UMR1231 GAD, Dijon, France., Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA., Diderich KEM; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands., Bourgeois D; Laboratoire National de Santé, Dudelange, Luxembourg., Dahan K; Laboratoire National de Santé, Dudelange, Luxembourg., Vignard V; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Bonneau D; Service de Génétique médicale, CHU d'Angers, Angers, France., Colin E; Service de Génétique médicale, CHU d'Angers, Angers, France., Barth M; Pediatric Surgery Department, Hôpital Mère-Enfant, F44093 Nantes, France., Camby C; Pediatric Surgery Department, Hôpital Mère-Enfant, F44093 Nantes, France., Baujat G; Department of Medical Genetics, Necker Enfants Malades Hospital, AP-HP, Paris, France; INSERM U1163, Imagine Institute, Paris Descartes University, Paris, France., Briceño I; Grupo Genética Humana, Facultad de Medicina, Universidad de La Sabana, Chía, Colombia., Gómez A; Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, DC, Colombia., Deb W; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Conrad S; Service de Génétique Médicale, CHU Nantes, Nantes, France., Besnard T; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Bézieau S; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald, Germany., Küry S; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jan; Vol. 24 (1), pp. 179-191. Date of Electronic Publication: 2021 Nov 30.