Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

(2019) Ozge Ceyhan-Birsoy et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

(2019) Courtney E. French et al.   INTENSIVE CARE MEDICINE

Current conditions in medical genetics practice

(2019) Deborah R. Maiese et al.   GENETICS IN MEDICINE

Mutations in IFT80 cause SRPS Type IV. Report of two families and review

(2019) Varoona Bizaoui et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease

(2019) Hernan D. Gonorazky et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

(2019) Klaus Schmitz-Abe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges

(2019) Alison M. Elliott et al.   EUROPEAN JOURNAL OF PEDIATRICS

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

(2019) Oguz Kanca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration

(2018) J. Moran et al.   CLINICAL GENETICS

Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities

(2018) Monica H Wojcik et al.   GENETICS IN MEDICINE

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

(2018) Lauge Farnaes 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

Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project

(2018) Casie A. Genetti et al.   GENETICS IN MEDICINE

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

(2018) Lamia Mestek-Boukhibar et al.   JOURNAL OF MEDICAL GENETICS

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement

(2017) Zornitza Stark et al.   GENETICS IN MEDICINE

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation

(2017) Diana Alcantara et al.   HUMAN MOLECULAR GENETICS

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study

(2017) Alan H. Beggs et al.   MUSCLE & NERVE

Rapid Targeted Genomics in Critically Ill Newborns

(2017) Cleo C. van Diemen et al.   PEDIATRICS

Use of Exome Sequencing for Infants in Intensive Care Units

(2017) Linyan Meng et al.   JAMA Pediatrics

Clinical delineation of thePACS1-related syndrome-Report on 19 patients

(2016) Janneke H. M. Schuurs-Hoeijmakers et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

(2016) Hussein Daoud et al.   CANADIAN MEDICAL ASSOCIATION JOURNAL

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

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Rapid whole genome sequencing and precision neonatology

(2015) Joshua E. Petrikin et al.   SEMINARS IN PERINATOLOGY

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

(2015) Neil A. Miller et al.   Genome Medicine

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

(2015) Laurel K Willig et al.   Lancet Respiratory Medicine

The usefulness of whole-exome sequencing in routine clinical practice

(2014) Alejandro Iglesias et al.   GENETICS IN MEDICINE

Prenatal diagnosis based onHPRT1gene mutation in a Lesch–Nyhan family

(2014) N. Liu et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

(2012) M. Chiara Manzini et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine