Exome/Genome Sequencing in Undiagnosed Syndromes

Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics

(2022) Meghan C. Halley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?

(2022) David R. Murdock et al.   Annual Review of Medicine

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations

(2022) Mateja Smogavec et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

(2022) Ana S.A. Cohen et al.   GENETICS IN MEDICINE

Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence

(2022) Mario Cesare Nurchis et al.   HEALTH POLICY

The complete sequence of a human genome

(2022) Sergey Nurk et al.   SCIENCE

An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency

(2022) Kevin A. Hope et al.   PLoS Genetics

ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

(2022) David T. Miller et al.   GENETICS IN MEDICINE

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

(2021) Kandamurugu Manickam et al.   GENETICS IN MEDICINE

The clinical utility of exome and genome sequencing across clinical indications: a systematic review

(2021) Salma Shickh et al.   HUMAN GENETICS

Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes

(2021) Eleanor G. Seaby et al.   Frontiers in Genetics

Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases

(2021) Devin Incerti et al.   GENETICS IN MEDICINE

Phenotypic expansion of KMT2D- related disorder: Beyond Kabuki syndrome

(2020) Dustin Baldridge et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome

(2020) Jennifer A. Sullivan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange

(2020) Danielle R. Azzariti et al.   Annual Review of Genomics and Human Genetics

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

(2020) Kelly Schoch et al.   GENETICS IN MEDICINE

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

(2020) Kelly Schoch et al.   GENETICS IN MEDICINE

Integrating Genomics into Healthcare: A Global Responsibility

(2019) Zornitza Stark et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Insights into genetics, human biology and disease gleaned from family based genomic studies

(2019) Jennifer E. Posey et al.   GENETICS IN MEDICINE

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

(2019) Joshua L. Deignan et al.   GENETICS IN MEDICINE

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

(2019) Vandana Shashi et al.   HUMAN MUTATION

Reanalysis of Clinical Exome Sequencing Data

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

Mendelian Gene Discovery: Fast and Furious with No End in Sight

(2019) Michael J. Bamshad et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

(2019) Jinkuk Kim et al.   NEW ENGLAND JOURNAL OF MEDICINE

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

(2018) Vandana Shashi 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

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

(2018) Zornitza Stark et al.   GENETICS IN MEDICINE

Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

(2018) Allyn McConkie-Rosell et al.   Journal of Genetic Counseling

Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing

(2018) John S Mattick et al.   MEDICAL JOURNAL OF AUSTRALIA

The Third Revolution in Sequencing Technology

(2018) Erwin L. van Dijk et al.   TRENDS IN GENETICS

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

(2018) Lauge Farnaes et al.   npj Genomic Medicine

IRF2BPL Is Associated with Neurological Phenotypes

(2018) Paul C. Marcogliese et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature

(2018) J. Delanne et al.   European Journal of Medical Genetics

Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization

(2018) Celeste Eno et al.   GENETICS IN MEDICINE

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

(2018) Kimberly Splinter et al.   NEW ENGLAND JOURNAL OF MEDICINE

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

(2018) David R. Adams et al.   NEW ENGLAND JOURNAL OF MEDICINE

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray

(2017) Robin Z. Hayeems et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Long-read genome sequencing identifies causal structural variation in a Mendelian disease

(2017) Jason D Merker et al.   GENETICS IN MEDICINE

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

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

(2017) Dustin Baldridge et al.   GENETICS IN MEDICINE

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

(2017) Rebecca C. Spillmann et al.   Orphanet Journal of Rare Diseases

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

(2017) Tiong Yang Tan et al.   JAMA Pediatrics

Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views

(2016) Gabrielle Bertier et al.   BMC Medical Genomics

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

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

Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders

(2016) Allyn McConkie Rosell et al.   Journal of Genetic Counseling

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

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

Nanopore development at Oxford Nanopore

(2016) Clive G Brown et al.   NATURE BIOTECHNOLOGY

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

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

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Quinidine in the treatment of KCNT1-positive epilepsies

(2015) Mohamad A Mikati et al.   ANNALS OF NEUROLOGY

Practical considerations in the clinical application of whole-exome sequencing

(2015) V. Shashi et al.   CLINICAL GENETICS

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

(2015) S.L. Sawyer et al.   CLINICAL GENETICS

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

(2015) Xiaolin Zhu et al.   GENETICS IN MEDICINE

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

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

(2015) Nara Sobreira et al.   HUMAN MUTATION

De novo gain-of-function and loss-of-function mutations ofSCN8Ain patients with intellectual disabilities and epilepsy

(2015) Maxime G Blanchard et al.   JOURNAL OF MEDICAL GENETICS

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

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

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

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

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

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

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

(2013) Vandana Shashi et al.   GENETICS IN MEDICINE

Points to consider for informed consent for genome/exome sequencing

(2013)   GENETICS IN MEDICINE

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

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

A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers

(2012) Michael Quail et al.   BMC GENOMICS

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

(2012) William A. Gahl et al.   GENETICS IN MEDICINE

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

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

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

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

(2011) Stephen F Kingsmore et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Sequencing technologies and genome sequencing

(2011) Chandra Shekhar Pareek et al.   JOURNAL OF APPLIED GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS