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Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders  Mari Rossi, LPhil, Dima El-Khechen, MS, CGC,

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Presentation on theme: "Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders  Mari Rossi, LPhil, Dima El-Khechen, MS, CGC,"— Presentation transcript:

1 Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders  Mari Rossi, LPhil, Dima El-Khechen, MS, CGC, LGC, Mary Helen Black, PhD, Kelly D. Farwell Hagman, MS, CGC, LGC, Sha Tang, PhD, DABMG, Zöe Powis, MS, CGC  Pediatric Neurology  Volume 70, Pages e2 (May 2017) DOI: /j.pediatrneurol Copyright © 2017 The Authors Terms and Conditions

2 Figure 1 Data analysis strategy. (The color version of this figure is available in the online edition.) Pediatric Neurology  , e2DOI: ( /j.pediatrneurol ) Copyright © 2017 The Authors Terms and Conditions

3 Figure 2 Diagnostic yield for characterized genetic etiologies and reanalysis results. *Candidate or suspected candidate genetic etiology was reported in seven families and in three cases; clinical significance was corroborated by new pertinent information. **Five more cases were reclassified as positive due to proactive reanalysis based on new publications and further familial cosegregation analysis. (The color version of this figure is available in the online edition.) Pediatric Neurology  , e2DOI: ( /j.pediatrneurol ) Copyright © 2017 The Authors Terms and Conditions

4 Supplementary Figure 1 Result categories in the ASD cohort. Char, characterized genetic etiology; cand, candidate genetic etiology. *P = 0.05. Pediatric Neurology  , e2DOI: ( /j.pediatrneurol ) Copyright © 2017 The Authors Terms and Conditions


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