Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

(2021) Francesca Clementina Radio et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

(2021) Aida M. Bertoli-Avella et al.   GENETICS IN MEDICINE

Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity

(2021) So Young Kim et al.   Scientific Reports

Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations

(2020) Dongju Won et al.   Frontiers in Neurology

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE

(2020) Go Hun Seo et al.   CLINICAL GENETICS

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

(2020) Jasmine L. F. Fung et al.   npj Genomic Medicine

Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders

(2020) Min-Jee Kim et al.   Journal of Clinical Medicine

Proband-only clinical exome sequencing for neurodevelopmental disabilities

(2019) Se Hee Kim et al.   PEDIATRIC NEUROLOGY

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

(2019) François Lecoquierre et al.   GENETICS IN MEDICINE

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

(2019) Tiong Yang Tan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

(2019) Siddharth Srivastava et al.   GENETICS IN MEDICINE

Reanalysis of Clinical Exome Sequencing Data

(2019) Pengfei Liu et al.   NEW ENGLAND JOURNAL OF MEDICINE

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

(2019) Vincenzo Salpietro et al.   Nature Communications

Prevalence and Trends of Developmental Disabilities among Children in the United States: 2009–2017

(2019) Benjamin Zablotsky et al.   PEDIATRICS

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

(2019) Ghayda M. Mirzaa et al.   GENETICS IN MEDICINE

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

(2018) Gregory Costain et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

(2018) Lisa J Ewans et al.   GENETICS IN MEDICINE

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

(2018) Michelle M. Clark et al.   npj Genomic Medicine

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

(2018) Ahmad N. Abou Tayoun et al.   HUMAN MUTATION

Widespread Genotype-Phenotype Correlations in Intellectual Disability

(2018) Emily L. Casanova et al.   Frontiers in Psychiatry

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers

(2016) Aaron M. Wenger et al.   GENETICS IN MEDICINE

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

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays

(2014) J. B. Moeschler et al.   PEDIATRICS

Genetics and the investigation of developmental delay/intellectual disability

(2013) M. Srour et al.   ARCHIVES OF DISEASE IN CHILDHOOD

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

Genetics of Early Onset Cognitive Impairment

(2010) Hans Hilger Ropers   Annual Review of Genomics and Human Genetics

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

(2010) A. McKenna et al.   GENOME RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS