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Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case.
Paparella, Annalisa; Squeo, Gabriella Maria; Di Venere, Eleonora; Cardea, Erica; Mazza, Tommaso; Castellana, Stefano; Kerkhof, Jennifer; McConkey, Haley; Sadikovic, Bekim; Sinibaldi, Lorenzo; Digilio, Maria Cristina; Merla, Giuseppe.
Affiliation
  • Paparella A; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Squeo GM; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Di Venere E; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Cardea E; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Mazza T; Bioinformatics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, San Giovanni Rotondo, Italy.
  • Castellana S; Bioinformatics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, San Giovanni Rotondo, Italy.
  • Kerkhof J; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A5C1, Canada.
  • McConkey H; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada.
  • Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A5C1, Canada.
  • Sinibaldi L; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada.
  • Digilio MC; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A5C1, Canada.
  • Merla G; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada.
J Hum Genet ; 67(9): 547-551, 2022 Sep.
Article in En | MEDLINE | ID: mdl-35581385
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Full text: 1 Database: MEDLINE Main subject: DNA Methylation / Intellectual Disability Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Humans Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Italy
Fulltext
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Full text: 1 Database: MEDLINE Main subject: DNA Methylation / Intellectual Disability Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Humans Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Italy