Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

(2020) Holger Hengel et al.   Nature Communications

H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome

(2019) Bjørt K Kragesteen et al.   JOURNAL OF MEDICAL GENETICS

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

(2019) Caroline Schluth-Bolard et al.   JOURNAL OF MEDICAL GENETICS

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

(2019) Thomas A. Cassini et al.   Molecular Genetics & Genomic Medicine

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

(2019) Patrick Deelen et al.   Nature Communications

Expanding the clinical and genetic spectra of NKX6-2 -related disorder

(2018) C. Baldi et al.   CLINICAL GENETICS

Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability

(2018) Aida M. Bertoli-Avella et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

(2018) Caroline F Wright et al.   GENETICS IN MEDICINE

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

(2018) Lauge Farnaes et al.   npj Genomic 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

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

A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children

(2018) H. Yavuz et al.   CLINICAL GENETICS

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

(2018) Andrew M. Gross et al.   GENETICS IN MEDICINE

Validation of copy number variation analysis for next-generation sequencing diagnostics

(2017) Jamie M Ellingford et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2017) Lisenka E.L.M. Vissers et al.   GENETICS IN MEDICINE

Canvas: versatile and scalable detection of copy number variants

(2016) Eric Roller et al.   BIOINFORMATICS

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

(2016) Daniel Trujillano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical sequencing: is WGS the better WES?

(2016) Janine Meienberg et al.   HUMAN GENETICS

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

The importance of dynamic re-analysis in diagnostic whole exome sequencing

(2016) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

(2016) William A. Gahl et al.   MOLECULAR GENETICS AND METABOLISM

Survey of healthcare experiences of Australian adults living with rare diseases

(2016) Caron Molster et al.   Orphanet Journal of Rare Diseases

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

(2016) Dimitri J Stavropoulos et al.   npj Genomic Medicine

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) Xiaoyu Chen et al.   BIOINFORMATICS

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer 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

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease

(2015) Jan Lukas et al.   HUMAN MUTATION

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

(2015) Stefan H. Lelieveld et al.   HUMAN MUTATION

An integrated map of structural variation in 2,504 human genomes

(2015) Peter H. Sudmant et al.   NATURE

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

(2015) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

(2013) Come Raczy et al.   BIOINFORMATICS

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

(2013) Sarah T. South et al.   GENETICS IN MEDICINE

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

(2011) A. Abyzov et al.   GENOME RESEARCH