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

Slides:

Advertisements

Similar presentations

Genetic testing for high-risk colon cancer patients1 William M. Grady Gastroenterology Volume 124, Issue 6, Pages (May 2003) DOI: /S (03)

Advertisements

Joann R. Petrini, PhD, MPH, Todd Dias, MS, Marie C

Volume 65, Pages (December 2016)

Fabry Disease: A Disorder of Childhood Onset

Sarah Caton, Elly O'Brien, Annie Jullien Pannelay, Robert G. Cook

Volume 65, Pages 1-13 (December 2016)

Moving From Research to Large-Scale Change in Child Health Care

Volume 78, Pages (January 2018)

Unweaving the Autism Spectrum

Joseph Scheller, MD Pediatric Neurology Volume 78, (January 2018)

Volume 77, Pages e1 (December 2017)

Volume 54, Pages (January 2016)

Chia-Wei Lin, MS, Stephanie J. Kalb, PhD, Wei-Shi Yeh, PhD

Volume 73, Pages 3-6 (August 2017)

Mortality in people with mental disorders in the Czech Republic: a nationwide, register- based cohort study Dzmitry Krupchanka, PhD, Karolína Mladá, MA,

A Shocking Cystory Clinical Gastroenterology and Hepatology

Characteristics and Outcomes of HEDIS-Defined Asthma Patients with COPD Diagnostic Coding Robert S. Zeiger, MD, PhD, Michael Schatz, MD, MS, Qiaowu Li,

Patient-Reported Outcome Measures for Use in Clinical Trials and Clinical Practice in Inflammatory Bowel Diseases: A Systematic Review Marin J. de Jong,

The Evaluation and Management of Pediatric Syncope

Volume 54, Pages (January 2016)

Volume 52, Issue 1, Pages (January 2015)

Volume 74, Pages e2 (September 2017)

Volume 49, Issue 3, Pages e1 (September 2013)

Volume 53, Issue 3, Pages (September 2015)

NMDA Receptor Encephalitis: Late Treatment Also Effective

Genetics: It's Coming to a Clinic Near You

Volume 68, Issue 2, Pages (October 2010)

Volume 15, Issue 1, Pages (January 2018)

Volume 65, Pages (December 2016)

Asthma Exacerbations and Triggers in Children in TENOR: Impact on Quality of Life Bradley E. Chipps, MD, Tmirah Haselkorn, PhD, Karin Rosén, MD, PhD,

Management Strategies for CLN2 Disease

Volume 50, Issue 1, Pages (January 2014)

Understanding Death in Children With Epilepsy

Volume 68, Pages e3 (March 2017) Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel

AGA Clinical Practice Update on Functional Gastrointestinal Symptoms in Patients With Inflammatory Bowel Disease: Expert Review Jean-Frederic Colombel,

Epidemiology of opportunistic infections in AIDS patients

Ioannis Karakis, Sofia Georghiou, H. Royden Jones, Basil T

Severe Constipation Clinical Gastroenterology and Hepatology

Jinhua Wu, MD, Tinger Ying, MD, Zhonghai Shen, MD, Haiyan Wang, MD

The Molecular Pathology of Primary Immunodeficiencies

Volume 52, Issue 1, Pages (January 2015)

GeneTests: Integrating Genetic Services into Patient Care*

Volume 50, Issue 1, Pages (January 2014)

Figure 1 All patients with pediatric genetic movement disorders, their genetic diagnoses, and type of genetic investigations All patients with pediatric.

Volume 50, Issue 1, Pages (January 2014)

Volume 73, Pages (August 2017) Epidemiology of Benign External Hydrocephalus in Norway—A Population-Based Study Ulrikke S. Wiig, MD, Sverre M. Zahl,

The Patient Experience: Patient-Reported Outcomes in Rheumatology

Tremor in a Population-Based Cohort of Children in New York City

An Unusual Holohemispheric Abnormality

Effective interventions for unintentional injuries: a systematic review and mortality impact assessment among the poorest billion Andres I Vecino-Ortiz,

Volume 51, Issue 5, Pages (November 2014)

Volume 5, Issue 3, Pages (November 2013)

Volume 149, Issue 6, Pages (November 2015)

Effects of Different Coping Strategies on Physical and Mental Health of Patients With Irritable Bowel Syndrome Lilian Dindo, PhD Clinical Gastroenterology.

Functional Mapping in Pediatric Epilepsy Surgical Candidates: Functional Magnetic Resonance Imaging Under Sedation With Chloral Hydrate Victoria L. Ives-Deliperi,

Fabry Disease: A Disorder of Childhood Onset

Volume 50, Issue 1, Pages (January 2014)

Volume 93, Issue 1, Pages (January 2018)

Aberrant Executive and Frontoparietal Functional Connectivity in Very Preterm Infants With Diffuse White Matter Abnormalities Lili He, PhD, Nehal A.

Hand Preference Develops Across Childhood and Adolescence in Extremely Preterm Children: The EPICure Study Neil Marlow, DM, FMedSci, Yanyan Ni, PhD,

Mary T. Rivard, Beth Mastel-Smith

Genetic evaluation procedures at sperm banks in the United States

Suzie Kardong-Edgren, PhD, RN, ANEF Clinical Simulation In Nursing

Volume 48, Issue 1, Pages (January 2013)

Adverse Outcomes: Why Bad Things Happen to Good People

Lauren Spor, B. Sc. , Kristina Cotter, Ph. D. , Stephanie Bivona, M. S

Risk of childhood psychiatric disorders in children of refugee parents with post-traumatic stress disorder: a nationwide, register-based, cohort study

Volume 61, Pages (August 2016) Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis Qing-Li Wang, MD,

Samiah A. Al-Zaidy, MD, Jerry R. Mendell, MD

Vylyny Chat, Robert Ferguson, Tomas Kirchhoff

Presentation transcript:

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 34-43.e2 (May 2017) DOI: 10.1016/j.pediatrneurol.2017.01.033 Copyright © 2017 The Authors Terms and Conditions

Figure 1 Data analysis strategy. (The color version of this figure is available in the online edition.) Pediatric Neurology 2017 70, 34-43.e2DOI: (10.1016/j.pediatrneurol.2017.01.033) Copyright © 2017 The Authors Terms and Conditions

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 2017 70, 34-43.e2DOI: (10.1016/j.pediatrneurol.2017.01.033) Copyright © 2017 The Authors Terms and Conditions

Supplementary Figure 1 Result categories in the ASD cohort. Char, characterized genetic etiology; cand, candidate genetic etiology. *P = 0.05. Pediatric Neurology 2017 70, 34-43.e2DOI: (10.1016/j.pediatrneurol.2017.01.033) Copyright © 2017 The Authors Terms and Conditions