| P50 | author | Han G. Brunner | Q22669719 |
| | Tjitske Kleefstra | Q28468806 |
| | Jolanda H Schieving | Q87647016 |
| | Simone van der Burg | Q87647018 |
| | Rolph Pfundt | Q87818956 |
| | Michèl A A P Willemsen | Q96584232 |
| | Helger G Yntema | Q114367419 |
| | Erik-Jan Kamsteeg | Q114442314 |
| | Kirsten J M van Nimwegen | Q130279529 |
| | Lisenka Vissers | Q42700373 |
| | Janneke Grutters | Q57617674 |
| | Joris A Veltman | Q57687954 |
| | Gert Jan van der Wilt | Q62088667 |
| P2093 | author name string | Gert Jan van der Wilt | |
| P2860 | cites work | Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study | Q28275978 |
| | KDM6A point mutations cause Kabuki syndrome | Q28277325 |
| | Exome sequencing: a transformative technology | Q28731354 |
| | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing | Q29616235 |
| | Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond | Q33665814 |
| | The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases | Q33903384 |
| | FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project | Q34000906 |
| | Refining analyses of copy number variation identifies specific genes associated with developmental delay | Q34254472 |
| | Clinical whole-exome sequencing for the diagnosis of mendelian disorders | Q34413680 |
| | Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome. | Q34437194 |
| | 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 | Q34465792 |
| | Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units | Q34820081 |
| | Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders | Q34866575 |
| | Molecular findings among patients referred for clinical whole-exome sequencing | Q35078373 |
| | Societal preferences for the return of incidental findings from clinical genomic sequencing: a discrete-choice experiment | Q35287159 |
| | Towards a European consensus for reporting incidental findings during clinical NGS testing | Q36695676 |
| | De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions | Q36802579 |
| | Actionable, pathogenic incidental findings in 1,000 participants' exomes | Q37217044 |
| | Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases | Q37421261 |
| | Unlocking Mendelian disease using exome sequencing | Q37932636 |
| | Genetic studies in intellectual disability and related disorders | Q38616789 |
| | Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis | Q38728522 |
| | Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders | Q38748907 |
| | Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience | Q38761141 |
| | Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs | Q41009411 |
| | The diagnostic pathway in complex paediatric neurology: a cost analysis | Q41554178 |
| | Pulling cost-effectiveness analysis up by its bootstraps: a non-parametric approach to confidence interval estimation. | Q41585693 |
| | An Incomplete Understanding of Human Genetic Variation | Q42728579 |
| | Feedback of individual genetic results to research participants: in favor of a qualified disclosure policy | Q44166679 |
| | Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress | Q44220426 |
| | The economic cost of brain disorders in Europe | Q44814293 |
| | Clinical whole exome sequencing in child neurology practice. | Q50305196 |
| | Focus group discussions on secondary variants and next-generation sequencing technologies. | Q50602197 |
| | The usefulness of whole-exome sequencing in routine clinical practice. | Q50657606 |
| | Diagnostic exome sequencing in persons with severe intellectual disability | Q55670486 |
| | A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases | Q57536768 |
| | ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing | Q57642222 |
| P433 | issue | 9 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 1055-1063 | |
| P577 | publication date | 2017-03-23 | |
| P1433 | published in | Genetics in Medicine | Q15765508 |
| P1476 | title | A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology | |
| P478 | volume | 19 | |