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Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
Aref-Eshghi, Erfan; Bend, Eric G; Colaiacovo, Samantha; Caudle, Michelle; Chakrabarti, Rana; Napier, Melanie; Brick, Lauren; Brady, Lauren; Carere, Deanna Alexis; Levy, Michael A; Kerkhof, Jennifer; Stuart, Alan; Saleh, Maha; Beaudet, Arthur L; Li, Chumei; Kozenko, Maryia; Karp, Natalya; Prasad, Chitra; Siu, Victoria Mok; Tarnopolsky, Mark A; Ainsworth, Peter J; Lin, Hanxin; Rodenhiser, David I; Krantz, Ian D; Deardorff, Matthew A; Schwartz, Charles E; Sadikovic, Bekim.
Afiliación
  • Aref-Eshghi E; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A 5W9, Canada.
  • Bend EG; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Colaiacovo S; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A 5W9, Canada.
  • Caudle M; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A 5W9, Canada.
  • Chakrabarti R; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A 5W9, Canada.
  • Napier M; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A 5W9, Canada.
  • Brick L; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4L8, Canada.
  • Brady L; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4L8, Canada.
  • Carere DA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A 5W9, Canada.
  • Levy MA; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A 5W9, Canada.
  • Kerkhof J; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A 5W9, Canada.
  • Stuart A; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A 5W9, Canada.
  • Saleh M; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A 5W9, Canada.
  • Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Li C; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4L8, Canada.
  • Kozenko M; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4L8, Canada.
  • Karp N; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A 5W9, Canada.
  • Prasad C; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A 5W9, Canada.
  • Siu VM; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A 5W9, Canada.
  • Tarnopolsky MA; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4L8, Canada.
  • Ainsworth PJ; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A 5W9, Canada.
  • Lin H; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A 5W9, Canada.
  • Rodenhiser DI; Department of Pediatrics, Biochemistry and Oncology, Western University, London, ON N6A 3K7, Canada.
  • Krantz ID; The University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
  • Deardorff MA; The University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
  • Schwartz CE; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A 5W9, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.
Am J Hum Genet ; 104(4): 685-700, 2019 04 04.
Article en En | MEDLINE | ID: mdl-30929737

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Congénitas / Metilación de ADN / Estudio de Asociación del Genoma Completo / Enfermedades Genéticas Congénitas Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Congénitas / Metilación de ADN / Estudio de Asociación del Genoma Completo / Enfermedades Genéticas Congénitas Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos