A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

(2016) Niccolò E. Mencacci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An Incomplete Understanding of Human Genetic Variation

(2016) J. Huddleston et al.   GENETICS

Whole Exome Sequencing in Pediatric Neurology Patients

(2016) Danielle Nolan et al.   JOURNAL OF CHILD NEUROLOGY

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

(2016) Lotte Krabbenborg et al.   Journal of Genetic Counseling

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic

(2016) Konstantinos N. Lazaridis et al.   MAYO CLINIC PROCEEDINGS

Societal preferences for the return of incidental findings from clinical genomic sequencing: a discrete-choice experiment

(2015) Dean A. Regier et al.   CANADIAN MEDICAL ASSOCIATION JOURNAL

Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs

(2015) L. Krabbenborg et al.   CLINICAL GENETICS

Towards a European consensus for reporting incidental findings during clinical NGS testing

(2015) Jayne Y Hehir-Kwa et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Focus group discussions on secondary variants and next-generation sequencing technologies

(2015) Gabrielle M. Christenhusz et al.   European Journal of Medical Genetics

The diagnostic pathway in complex paediatric neurology: A cost analysis

(2015) K.J.M. van Nimwegen et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

(2014) Chandree L. Beaulieu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical whole exome sequencing in child neurology practice

(2014) Siddharth Srivastava et al.   ANNALS OF NEUROLOGY

Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress

(2014) A.S. Sie et al.   CLINICAL GENETICS

The usefulness of whole-exome sequencing in routine clinical practice

(2014) Alejandro Iglesias et al.   GENETICS IN MEDICINE

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing

(2014)   GENETICS IN MEDICINE

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

Use of Next-Generation Sequencing as a Diagnostic Tool for Congenital Myasthenic Syndrome

(2014) Alvin S. Das et al.   PEDIATRIC NEUROLOGY

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

(2014) S. E. Soden et al.   Science Translational Medicine

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

(2013) Michael O. Dorschner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

(2012) William A. Gahl et al.   GENETICS IN MEDICINE

KDM6A Point Mutations Cause Kabuki Syndrome

(2012) Noriko Miyake et al.   HUMAN MUTATION

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

The economic cost of brain disorders in Europe

(2011) J. Olesen et al.   EUROPEAN JOURNAL OF NEUROLOGY

Feedback of individual genetic results to research participants: in favor of a qualified disclosure policy

(2011) Annelien L. Bredenoord et al.   HUMAN MUTATION

Exome sequencing: a transformative technology

(2011) Andrew B Singleton   LANCET NEUROLOGY

Unlocking Mendelian disease using exome sequencing

(2011) Christian Gilissen et al.   GENOME BIOLOGY

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY