Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy

Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial

(2018) Kurt D Christensen et al.   GENETICS IN MEDICINE

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature

(2018) Katharina Schwarze et al.   GENETICS IN MEDICINE

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

(2018) Josh E. Petrikin et al.   npj Genomic Medicine

Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy

(2017) Jana Neupauerová et al.   Genetic Testing and Molecular Biomarkers

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1 -associated neurodevelopmental disorder (DAND) phenotype

(2017) Li Chen et al.   HUMAN MUTATION

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Early-Life Epilepsies and the Emerging Role of Genetic Testing

(2017) Anne T. Berg et al.   JAMA Pediatrics

Indexcov: fast coverage quality control for whole-genome sequencing

(2017) Brent S Pedersen et al.   GigaScience

Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study

(2016) Eija Gaily et al.   EPILEPSIA

A framework for the detection of de novo mutations in family-based sequencing data

(2016) Laurent C Francioli et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Novel de novoEEF1A2missense mutations causing epilepsy and intellectual disability

(2016) Wayne W.K. Lam et al.   Molecular Genetics & Genomic Medicine

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

(2015) Nicholas M. Allen et al.   EPILEPSIA

SCN8Amutations in Chinese children with early onset epilepsy and intellectual disability

(2015) Weijing Kong et al.   EPILEPSIA

Chromosomal microarray in unexplained severe early onset epilepsy – A single centre cohort

(2015) Nicholas M. Allen 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

Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene

(2015) José Pedro Vieira et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy

(2015) Semra Gürsoy et al.   JOURNAL OF CHILD NEUROLOGY

RecessiveDEAF1mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy

(2015) Anna Rajab et al.   JOURNAL OF MEDICAL GENETICS

A roadmap for precision medicine in the epilepsies

(2015)   LANCET NEUROLOGY

SpeedSeq: ultra-fast personal genome analysis and interpretation

(2015) Colby Chiang et al.   NATURE METHODS

Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

(2015) Hui Yang et al.   NATURE METHODS

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

(2014) Anneke T. Vulto-van Silfhout et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications

(2014) Przemyslaw Szafranski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Emerging role of CaMKII in neuropsychiatric disease

(2014) A.J. Robison   TRENDS IN NEUROSCIENCES

LUMPY: a probabilistic framework for structural variant discovery

(2014) Ryan M Layer et al.   GENOME BIOLOGY

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

(2013) Hirofumi Kodera et al.   EPILEPSIA

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients

(2013) S. Weckhuysen et al.   NEUROLOGY

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

(2013) Umadevi Paila et al.   PLoS Computational Biology

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

Clinical review of genetic epileptic encephalopathies

(2012) Grace J. Noh et al.   European Journal of Medical Genetics

Epileptic Encephalopathies in Infants and Children

(2012) Douglas R. Nordli   JOURNAL OF CLINICAL NEUROPHYSIOLOGY

Determinants of Health Care Use in a Population-Based Leukodystrophy Cohort

(2012) Clint Nelson et al.   JOURNAL OF PEDIATRICS

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Epilepsy caused by CDKL5 mutations

(2010) Maija Castrén et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH