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Abbreviation : ES
Long Form : exome sequencing
No. Year Title Co-occurring Abbreviation
2020 Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes. LVNC, PRDM16, TTN
2020 Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation. CMA, PAGE, USS
2020 Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family. FIAs, IAs
2020 Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach. NMDs
2020 Mobile element insertion detection in 89,874 clinical exomes. MEIs
2020 Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature. ARID
2020 TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. CS
2020 The impact of exome sequencing on diagnostic yield of muscular dystrophies in consanguineous families. DCV, MDs
2020 Using the Delphi method to identify clinicians' perceived importance of pediatric exome sequencing results. ---
10  2019 2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases. ID/MCA
11  2019 A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. AAF, AD, AR, SNVs
12  2019 A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. GS
13  2019 A Genocentric Approach to Discovery of Mendelian Disorders. HARLEE
14  2019 A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis. ---
15  2019 A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder. DHA, PEX26, PTS1
16  2019 A Recurrent Rare SOX9 Variant (M469V) is Associated with Congenital Vertebral Malformations. CVM
17  2019 A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. CUD
18  2019 Accurate detection of clinically relevant uniparental disomy from exome sequencing data. SNP, UPD
19  2019 Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly. ID
20  2019 Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. GS
21  2019 Clinical and genetic spectrum of a large cohort of children with epilepsy in China. ---
22  2019 Clinical genome sequencing in an unbiased pediatric cohort. GS
23  2019 Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. BG, CMA, CNVs, pCNVs, QC, ROH, SNVs, UPD
24  2019 Criteria for reporting incidental findings in clinical exome sequencing - a focus group study on professional practices and perspectives in Belgian genetic centres. CMGs
25  2019 De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. ASDs, CMA, DD, ID, TAND
26  2019 De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. CNS, DEEs, EAP1, EEG, IRF2BPL
27  2019 Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light. LHON, mtDNA
28  2019 Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population. NGS
29  2019 DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. CAKUT, GD, GU
30  2019 Exome sequencing disclosures in pediatric cancer care: Patterns of communication among oncologists, genetic counselors, and parents. ---
31  2019 Exome sequencing for perinatal phenotypes: The significance of deep phenotyping. ---
32  2019 Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study). ---
33  2019 Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease. POI
34  2019 Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data. gDNA, NBDPS, WGA
35  2019 Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries. ---
36  2019 From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care. pES
37  2019 From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. DEB, FA, SCOS
38  2019 Genetic Counseling and Genome Sequencing in Pediatric Rare Disease. GS
39  2019 Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit. GWS, IFs, NICU, WGS
40  2019 Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes. RPL
41  2019 Genetics professionals' attitudes toward prenatal exome sequencing. ACMG, ASHG, NSGC
42  2019 Genome sequencing and implications for rare disorders. CMA, GS
43  2019 Identification of novel FBN1 variations implicated in congenital scoliosis. CS, DISCO, TGF-beta
44  2019 Insights into genetics, human biology and disease gleaned from family based genomic studies. CMGs, NIH
45  2019 Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. AR, CGRs, DMRs, ROH, seDNA, SNP, TRP, UPD
46  2019 Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes. LBR
47  2019 Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing. CHDs
48  2019 Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes. ICER
49  2019 Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. CMA, NDDs
50  2019 Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease. MD, mtDNA
51  2019 Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies. ACMG
52  2019 Novel Compound Heterozygote Mutation in IL10RA in a Patient With Very Early-Onset Inflammatory Bowel Disease. PBMCs, VEO-IBD
53  2019 Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome. CMV, CVID, NK
54  2019 Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS). ---
55  2019 Primary care physicians' understanding and utilization of pediatric exome sequencing results. GHP, PCPs
56  2019 Private payer coverage policies for exome sequencing (ES) in pediatric patients: trends over time and analysis of evidence cited. ---
57  2019 Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges. GCs, rES, TATs
58  2019 RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges. GWS, NICUs
59  2019 Responsibility, culpability, and parental views on genomic testing for seriously ill children. GS
60  2019 RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. NM
61  2019 TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. ---
62  2019 The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. aCGH, AOH, CNVs, ddPCR, IBD
63  2019 The value of diagnostic testing for parents of children with rare genetic diseases. DCE
64  2019 Update on the use of exome sequencing in the diagnosis of fetal abnormalities. ---
65  2018 Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies. DEEs
66  2018 AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss. NSHL
67  2018 Cost-effectiveness of Genome and Exome Sequencing in Children Diagnosed with Autism Spectrum Disorder. ASD, CMA, ICER
68  2018 Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis. GLD, NIHF
69  2018 Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study. ---
70  2018 The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study. CI
71  2018 Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy. CNV, DCM, HPO, SNP
72  2018 Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss. HL
73  2018 Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders. IPD
74  2017 Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound. ---
75  2017 The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. ---
76  2016 Assessing the reproducibility of exome copy number variations predictions. CNVs, CoNIFER, CONTRA, FN, FP, PPV, XHMM
77  2016 Clinical and genetic aspects of KBG syndrome. ---
78  2016 The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing. ---
79  2015 A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. NGS, NMDs
80  2015 FBN1 contributing to familial congenital diaphragmatic hernia. CDH, FBN1
81  2015 Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. ---
82  2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. ---
83  2013 Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. PGM, SNV, WGS
84  2013 Genomic approaches for studying craniofacial disorders. CNV, GS
85  2012 An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. MD, SPG
86  2012 The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. CMGs, WGS
87  2012 VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance. ---
88  2011 Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research. WGS