Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results

(2018) Brittany Gerald et al.   Seminars in Pediatric Neurology

Yunis-Varón syndrome caused by biallelic VAC14 mutations

(2017) Matthew A Lines et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica

(2017) Ryojun Takeda et al.   European Journal of Medical Genetics

A case of splenomegaly in CBL syndrome

(2017) Rachel R. Coe et al.   European Journal of Medical Genetics

Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration

(2017) Nathalie Villeneuve et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature

(2017) Abdelali Zrhidri et al.   GENE

A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder

(2017) Kate Tsiplova 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

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

(2017) Anath C Lionel et al.   GENETICS IN MEDICINE

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

Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions

(2017) G. H. Renkema et al.   HUMAN GENETICS

Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis

(2017) Ron Bochner et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Congenital Sucrase-isomaltase Deficiency

(2017) Yael Haberman et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Whole Wiskott-Aldrich syndrome protein gene deletion identified by high throughput sequencing

(2017) Xiangling He et al.   Molecular Medicine Reports

Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy

(2017) R. Tsabari et al.   NEUROMUSCULAR DISORDERS

Neonatal-Onset Recurrent Guillain–Barré Syndrome-Like Disease: Clues for Inherited CD59 Deficiency

(2017) Didem Ardicli et al.   NEUROPEDIATRICS

Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene

(2017) Jason H. Peragallo et al.   OPHTHALMIC GENETICS

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2

(2017) Colin Wilbur et al.   PEDIATRIC NEUROLOGY

Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement

(2017) Alaa Eskandrani et al.   PEDIATRIC NEUROLOGY

H syndrome: 5 new cases from the United States with novel features and responses to therapy

(2017) Jessica L. Bloom et al.   Pediatric Rheumatology

Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins

(2017) Jessika Johannsen et al.   Pediatrics and Neonatology

Diagnosis of cobalamin C deficiency with renal abnormality from onset in a Chinese child by next generation sequencing: A case report

(2017) Qiuxia Chen et al.   Experimental and Therapeutic Medicine

Novel Pathogenic Variant (c.580C>T) in theCPS1Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing

(2017) Rihwa Choi et al.   Annals of Laboratory Medicine

Genomic diagnosis for children with intellectual disability and/or developmental delay

(2017) Kevin M. Bowling et al.   Genome Medicine

Use of Exome Sequencing for Infants in Intensive Care Units

(2017) Linyan Meng et al.   JAMA Pediatrics

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

(2017) Tiong Yang Tan et al.   JAMA Pediatrics

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

(2017) Michael Nafisinia et al.   PLoS One

Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing

(2016) María Brión et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

CLTC as a clinically novel gene associated with multiple malformations and developmental delay

(2016) Joseph DeMari et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation

(2016) Alexandra Topa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microcephaly-capillary malformation syndrome: Brothers with a homozygousSTAMBPmutation, uncovered by exome sequencing

(2016) Muhammad Imran Naseer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

(2016) Alexandra Gauthier-Vasserot et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

GM3 synthase deficiency due toST3GAL5variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype

(2016) Jin Sook Lee et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report

(2016) Mohammed Zain Seidahmed et al.   BMC Neurology

Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review

(2016) Matthias Kettwig et al.   BMC Neurology

Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations

(2016) Takehiko Inui et al.   BRAIN & DEVELOPMENT

Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 ( MED17 )

(2016) Shinichi Hirabayashi et al.   BRAIN & DEVELOPMENT

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation

(2016) Anna Maria Pinto et al.   BRAIN & DEVELOPMENT

Ketogenic diet – A novel treatment for early epileptic encephalopathy due to PIGA deficiency

(2016) Charuta Joshi et al.   BRAIN & DEVELOPMENT

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

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

Autosomal recessive truncatingMAB21L1mutation associated with a syndromic scrotal agenesis

(2016) A.-L. Bruel et al.   CLINICAL GENETICS

The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis

(2016) O. Shamriz et al.   CLINICAL GENETICS

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test

(2016) J. Thevenon et al.   CLINICAL GENETICS

Ade novoframeshift inHNRNPKcausing a Kabuki-like syndrome with nodular heterotopia

(2016) L. Lange et al.   CLINICAL GENETICS

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

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

Before and after – Nutritional transformation of dysmorphism in a case of Costello syndrome

(2016) Annie T.G. Chiu et al.   European Journal of Medical Genetics

Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion

(2016) Hemant Varma et al.   European Journal of Medical Genetics

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1

(2016) Bernt Popp et al.   European Journal of Medical Genetics

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

(2016) Aleksandra Jezela-Stanek et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

(2016) Dorota Piekutowska-Abramczuk et al.   FOLIA NEUROPATHOLOGICA

Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo­epiphyseal dysplasia congenita

(2016) A. Sangsin et al.   GENETICS AND MOLECULAR RESEARCH

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

(2016) Glen R. Monroe et al.   GENETICS IN MEDICINE

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

(2016) Katherine L. Helbig et al.   GENETICS IN MEDICINE

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

(2016) Zornitza Stark et al.   GENETICS IN MEDICINE

Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child

(2016) Veedamali S. Subramanian et al.   HUMAN GENETICS

Diagnostic challenge of Diamond–Blackfan anemia in mothers and children by whole-exome sequencing

(2016) Takuya Ichimura et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Convergence of Implementation Science, Precision Medicine, and the Learning Health Care System

(2016) David A. Chambers et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Whole Exome Sequencing in Pediatric Neurology Patients

(2016) Danielle Nolan et al.   JOURNAL OF CHILD NEUROLOGY

A Case of HDR Syndrome and Ichthyosis: Dual Diagnosis by Whole-Genome Sequencing of Novel Mutations inGATA3andSTSGenes

(2016) Gregory Goodwin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism

(2016) Daisuke Miyamichi et al.   JOURNAL OF HUMAN GENETICS

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP

(2016) Ahmet O Çağlayan et al.   JOURNAL OF HUMAN GENETICS

TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy

(2016) Toshio Ikeda et al.   JOURNAL OF HUMAN GENETICS

Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency

(2016) Carlo Dionisi-Vici et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy

(2016) Simon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

AMMECR1 : a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

(2016) Gaia Andreoletti et al.   JOURNAL OF MEDICAL GENETICS

Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B

(2016) Saeed Mohammad et al.   JOURNAL OF PEDIATRICS

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic

(2016) Konstantinos N. Lazaridis et al.   MAYO CLINIC PROCEEDINGS

Approaching the facts between genetic mutation and clinical practice of hypertrophic cardiomyopathy

(2016) Xiaoqin Wang et al.   MEDICINE

Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1

(2016) Shwetha Chiplunkar et al.   METABOLIC BRAIN DISEASE

Neonatal encephalocardiomyopathy caused by mutations in VARS2

(2016) Fabian Baertling et al.   METABOLIC BRAIN DISEASE

Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis

(2016) Saikat Santra et al.   MOLECULAR GENETICS AND METABOLISM

Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency

(2016) NIU LI et al.   Molecular Medicine Reports

Exome Sequencing and the Management of Neurometabolic Disorders

(2016) Maja Tarailo-Graovac et al.   NEW ENGLAND JOURNAL OF MEDICINE

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies

(2016) Charuta Joshi et al.   Biomed Research International

Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency

(2016) Kesava A. Ramakrishnan et al.   Journal of Allergy and Clinical Immunology-In Practice

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

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

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

(2015) Valerie A. Arboleda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Atypical presentation of moyamoya disease in an infant with a de novoRNF213variant

(2015) Tamar Harel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

(2015) Isabelle Thiffault et al.   BMC Medical Genetics

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

(2015) Cameron Mroske et al.   BMC Medical Genetics

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

(2015) Eliska Holzerova et al.   BRAIN

Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: A congenital disorder of glycosylation mimicking glycogen storage disease

(2015) Rihwa Choi et al.   CLINICA CHIMICA ACTA

Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy

(2015) Chun-Yiu Law et al.   CLINICA CHIMICA ACTA

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy

(2015) M. Kvarnung et al.   CLINICAL GENETICS

Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders

(2015) J. Zhang et al.   CLINICAL GENETICS

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

Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency

(2015) Shinobu Tamura et al.   CLINICAL IMMUNOLOGY

The use of whole-exome sequencing to disentangle complex phenotypes

(2015) Hywel J Williams et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

(2015) Jason R Vanstone et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel SMC1A frameshift mutations in children with developmental delay and epilepsy

(2015) Jessica H.R. Goldstein et al.   European Journal of Medical Genetics

Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation

(2015) Jin Sook Lee et al.   GENE

An infant withMLH3variants,FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study

(2015) Rina Kansal et al.   GENES CHROMOSOMES & CANCER

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

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

(2015) Tarunashree Yavarna et al.   HUMAN GENETICS

A New HomozygousIGF1RVariant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome

(2015) Paolo Prontera et al.   HUMAN MUTATION

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

(2015) Kristiina Tammimies et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Somatic Mosaicism for a NRAS Mutation Associates with Disparate Clinical Features in RAS-associated Leukoproliferative Disease: a Report of Two Cases

(2015) Mitsutaka Shiota et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation

(2015) Divya Punwani et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing

(2015) Kensaku Kohrogi et al.   JOURNAL OF HUMAN GENETICS

Whole exome sequencing of suspected mitochondrial patients in clinical practice

(2015) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation

(2015) Nisha Garg et al.   JOURNAL OF PEDIATRICS

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

(2015) Ashlee R. Stiles et al.   MOLECULAR GENETICS AND METABOLISM

Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy

(2015) Huseyin Per et al.   NEUROPEDIATRICS

Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a knownINSgene mutation

(2015) Halley Wasserman et al.   PEDIATRIC DIABETES

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

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience

(2015) C. Alexander Valencia et al.   Frontiers in Pediatrics

De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

(2014) Fan Xia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders

(2014) Miriam S. Reuter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations inKAT6B

(2014) Hung-Chun Yu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical whole exome sequencing in child neurology practice

(2014) Siddharth Srivastava et al.   ANNALS OF NEUROLOGY

Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations inIL7Rdetected by tandem whole exome sequencing and chromosomal microarray

(2014) D. K. Bayer et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Clinical utility of genetic testing in pediatric drug-resistant epilepsy: A pilot study

(2014) Margie A. Ream et al.   EPILEPSY & BEHAVIOR

Hoyeraal–Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing

(2014) Byung Chan Lim et al.   GENE

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

(2014) Yuan Xue et al.   GENETICS IN MEDICINE

The usefulness of whole-exome sequencing in routine clinical practice

(2014) Alejandro Iglesias 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

Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing

(2014) James R. Priest et al.   HEART RHYTHM

A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly

(2014) Periklis Makrythanasis et al.   HUMAN MUTATION

Genome-Scale Sequencing in Clinical Care

(2014) Jonathan S. Berg   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

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

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

(2014) Robert W. Taylor 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

A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease

(2014) Emilia Balboa-Beltran et al.   JOURNAL OF MEDICAL GENETICS

TUBB4A de novo mutations cause isolated hypomyelination

(2014) A. Pizzino et al.   NEUROLOGY

Use of Next-Generation Sequencing as a Diagnostic Tool for Congenital Myasthenic Syndrome

(2014) Alvin S. Das et al.   PEDIATRIC NEUROLOGY

Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child With Static Hypomyelinating Leukodystrophy

(2014) Shawn M. Purnell et al.   PEDIATRIC 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

Identification of A Novel SBF2 Frameshift Mutation in Charcot–Marie–Tooth Disease Type 4B2 Using Whole-exome Sequencing

(2014) Meiyan Chen et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy

(2013) D.A. Dyment et al.   CLINICAL GENETICS

Right Test, Right Time, Right Patient*

(2013) Karl W. Thomas   CRITICAL CARE MEDICINE

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic

(2013) Takuya Takeichi et al.   EXPERIMENTAL DERMATOLOGY

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

The economic value of personalized medicine tests: what we know and what we need to know

(2013) Kathryn A Phillips et al.   GENETICS IN MEDICINE

Implementing genomic medicine in the clinic: the future is here

(2013) Teri A. Manolio et al.   GENETICS IN MEDICINE

Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing

(2013) Darrell L. Dinwiddie et al.   GENOMICS

Isolated Central Hypothyroidism in Young Siblings as a Manifestation of PROP1 Deficiency: Clinical Impact of Whole Exome Sequencing

(2013) Ari J. Wassner et al.   Hormone Research in Paediatrics

Exome Sequencing Finds a Novel PCSK1 Mutation in a Child With Generalized Malabsorptive Diarrhea and Diabetes Insipidus

(2013) Michael Yourshaw et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Novel de novo SCN2A Mutation in a Child With Migrating Focal Seizures of Infancy

(2013) Radhika Dhamija et al.   PEDIATRIC NEUROLOGY

Identification of a Novel de Novo p.Phe932Ile KCNT1 Mutation in a Patient With Leukoencephalopathy and Severe Epilepsy

(2013) Adeline Vanderver et al.   PEDIATRIC NEUROLOGY

Severe Combined Immunodeficiency Resulting From Mutations in MTHFD1

(2013) M. D. Keller et al.   PEDIATRICS

Issues surrounding the health economic evaluation of genomic technologies

(2013) James Buchanan et al.   PHARMACOGENOMICS

Consolidated Health Economic Evaluation Reporting Standards (CHEERS)—Explanation and Elaboration: A Report of the ISPOR Health Economic Evaluation Publication Guidelines Good Reporting Practices Task Force

(2013) Don Husereau et al.   VALUE IN HEALTH

WDR35mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype

(2012) Carlos A. Bacino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical application of exome sequencing in undiagnosed genetic conditions

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

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

(2011) Tyler Mark Pierson et al.   PLoS Genetics

Outcomes of interest in evidence-based evaluations of genetic tests

(2010) Jeffrey R Botkin et al.   GENETICS IN MEDICINE

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

(2010) J. Rios et al.   HUMAN MOLECULAR GENETICS

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement

(2009) David Moher et al.   PLOS MEDICINE