Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Saved in:
| Title: | Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms. |
|---|---|
| Authors: | Veltra D; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Tilemis FN; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Svingou M; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Mitrakos A; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Kosma K; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Tsoutsou I; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Makrythanasis P; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Department of Genetic Medicine and Development, Medical School, University of Geneva, Geneva, Switzerland.; Biomedical Research Foundation of the Academy of Athens, Athens, Greece., Theodorou V; Pediatric Neurology Department, St. Sophia's Children's Hospital, Athens, Greece., Katsalouli M; Pediatric Neurology Department, St. Sophia's Children's Hospital, Athens, Greece., Vorgia P; Agrifood and Life Sciences Institute, Hellenic Mediterranean University, Heraklion, Crete, Greece., Niotakis G; Pediatric Neurology Department, Venizelion Hospital, Heraklion, Greece., Vartzelis G; Second Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, P. & A. Kyriakou Children's Hospital, Athens, Greece., Dinopoulos A; Forth Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, General Hospital of Athens Attikon, Athens, Greece., Evangeliou A; Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece., Mouskou S; Pediatric Neurology Department, P. & A. Kyriakou Children's Hospital, Athens, Greece., Korona A; Pediatric Neurology Department, P. & A. Kyriakou Children's Hospital, Athens, Greece., Mastroyianni S; Pediatric Neurology Department, P. & A. Kyriakou Children's Hospital, Athens, Greece., Papavasiliou A; Department of Pediatric Neurology, Iaso Children's Hospital, Marousi, Greece., Tzetis M; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Pons R; First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Sofocleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece. |
| Source: | Expert review of molecular diagnostics [Expert Rev Mol Diagn] 2023 Jan; Vol. 23 (1), pp. 85-103. Date of Electronic Publication: 2023 Feb 14. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Taylor & Francis Country of Publication: England NLM ID: 101120777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-8352 (Electronic) Linking ISSN: 14737159 NLM ISO Abbreviation: Expert Rev Mol Diagn Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
Be the first to leave a comment!
