Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

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

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

(2014) Holly LaDuca et al.   GENETICS IN MEDICINE

The usefulness of whole-exome sequencing in routine clinical practice

(2014) Alejandro Iglesias et al.   GENETICS IN MEDICINE

Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing

(2014) Arindam Bhattacharjee et al.   GENETICS IN MEDICINE

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied and treated

(2014) Matthew Might et al.   GENETICS IN MEDICINE

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

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

(2014) K. J. Carss et al.   HUMAN MOLECULAR GENETICS

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

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

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis

(2014) R. J. Butterfield et al.   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

Prenatal exome sequencing for fetuses with structural abnormalities: the next step

(2014) S.C. Hillman et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

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

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

Diagnostic Exome Sequencing Identifies Two Novel IQSEC2 Mutations Associated with X-Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Clinical Diagnosis

(2013) Stephanie K. Gandomi et al.   Journal of Genetic Counseling

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

Hereditary Spastic Paraplegia with a NovelSPASTMutation Misdiagnosed with Subacute Combined Degeneration

(2013) Ji Won Yang et al.   Experimental Neurobiology

Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

(2012) Hanan E. Shamseldin et al.   GENETICS IN MEDICINE

Points to consider in the clinical application of genomic sequencing

(2012)   GENETICS IN MEDICINE

Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations

(2012) Gianina Ravenscroft et al.   NEUROMUSCULAR DISORDERS

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

(2012) Ronald J. Wapner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE

Whole exome capture in solution with 3 Gbp of data

(2010) Matthew N Bainbridge et al.   GENOME BIOLOGY

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

(2009) K. Ye et al.   BIOINFORMATICS

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

(2008) Clelia Prattichizzo et al.   HUMAN MUTATION