Targeted capture and massively parallel sequencing of 12 human exomes

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Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis

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Rapid Multiplexed Genotyping of Simple Tandem Repeats using Capture and High-Throughput Sequencing

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Genomic approaches to diagnose rare bone disorders

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Gene-based comparative analysis of tools for estimating copy number alterations using whole-exome sequencing data

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Genome-wide association analysis identifies a meningioma risk locus at 11p15.5

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A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders

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Practical, ethical and regulatory considerations for the evolving medical and research genomics landscape

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A genome-wide case-only test for the detection of digenic inheritance in human exomes

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Designing, Performing, and Interpreting a Microarray-Based Gene Expression Study

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Screening of genes involved in chromosome segregation during meiosis I: toward the identification of genes responsible for infertility in humans

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Next-Generation Diagnostics for Inherited Skin Disorders

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New technologies in the genetic approach to sudden cardiac death in the young

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Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis

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Multi-omic measurement of mutually exclusive loss-of-function enriches for candidate synthetic lethal gene pairs

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Rare Variants of ATG5 Are Likely to Be Associated With Chinese Patients With Systemic Lupus Erythematosus

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Capturing Darwin's dream

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Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level

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Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing

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High frequency of autosomal‐recessive DFNB59 hearing loss in an isolated Arab population in Israel

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Pathway‐Based Approaches for Sequencing‐Based Genome‐Wide Association Studies

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Chiari malformation type I: what information from the genetics?

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Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

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The role of chromosomal microarray and exome sequencing in prenatal diagnosis

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von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene

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Advances in sarcoma molecular diagnostics

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Use of Linkage Analysis, Genome-Wide Association Studies, and Next-Generation Sequencing in the Identification of Disease-Causing Mutations

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Next-generation sequencing approaches for genetic mapping of complex diseases

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Consanguinity Mapping of Congenital Heart Disease in a South Indian Population

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Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders

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Mutations in the ABCA3 Gene Are Associated With Cataract-Microcornea Syndrome

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Whole exome sequencing implicates PTCH1 and COL17A1 genes in ossification of the posterior longitudinal ligament of the cervical spine in Chinese patients

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The genetics of common kidney disease: a pathway toward clinical relevance

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Analysis of Human Triallelic SNPs by Next‐Generation Sequencing

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Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease

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Signatures of positive selection apparent in a small sample of human exomesPreprint

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Rapid identification of heterozygous mutations in Drosophila melanogaster using genomic capture sequencingPreprint

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AMELIE accelerates Mendelian patient diagnosis directly from the primary literaturePreprint

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Jumping on the Train of Personalized Medicine: A Primer for Non- Geneticist Clinicians: Part 3. Clinical Applications in the Personalized Medicine Area

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A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine

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Genetics of Complex Airway Disease

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Context-dependent robustness to 5′ splice site polymorphisms in human populations

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Newborn screening and the era of medical genomics

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Exome sequencing a review of new strategies for rare genomic disease research

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Genetic testing for inherited ocular disease: delivering on the promise at last?

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Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1

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Integrating Massively Parallel Sequencing into Diagnostic Workflows and Managing the Annotation and Clinical Interpretation Challenge

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Genome-wide sequencing to identify the cause of hereditary cancer syndromes: With examples from familial pancreatic cancer

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The promise and limitations of population exomics for human evolution studies

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Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery

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A probabilistic method for the detection and genotyping of small indels from population-scale sequence data

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Genetic predisposing factors to bronchopulmonary dysplasia: preliminary data from a multicentre study

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Speech-language pathology insights into genetics and neuroscience: Beyond surface behaviour

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dbWGFP: a database and web server of human whole-genome single nucleotide variants and their functional predictions

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Human genetic variation in GLS2 is associated with development of complicated Staphylococcus aureus bacteremia

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Genetic testing strategies in the newborn

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Biomedical Impact of Splicing Mutations Revealed through Exome Sequencing

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First somatic mutation of E2F1 in a critical DNA binding residue discovered in well-differentiated papillary mesothelioma of the peritoneum

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Genomic contributions to Mendelian diseasePreprint

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Recent Advances in Micro- and Nano-Enhanced Intravascular Biosensors for Real-Time Monitoring, Early Disease Diagnosis, and Drug Therapy Monitoring

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Design Considerations for Massively Parallel Sequencing Studies of Complex Human Disease

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A higher burden of multiple sclerosis genetic risk confers an earlier onset

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Whole human exome capture for high-throughput sequencing

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Enriching pathogen transcripts from infected samples: A capture-based approach to enhanced host–pathogen RNA sequencing

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Quantitative group testing-based overlapping pool sequencing to identify rare variant carriers

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Pharmacogenetics of asthma

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Linkage and association of phospholipid transfer protein activity to LASS4

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An NGS Workflow Blueprint for DNA Sequencing Data and Its Application in Individualized Molecular Oncology

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Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing

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Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families

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Chiral DNA sequences as commutable controls for clinical genomics

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Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders

Mahmud, S., Biswas, S., Afrose, S., Mita, M. A., Hasan, M. K., Shimu, M. S. S., Paul, G. K., Chung, S., Saleh, M. A., Alshehri, S., et al. (2022) · Current Issues in Molecular Biology · doi:10.3390/cimb44030074 · Cited by 23

A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect

Liu, J., Fan, L., Chen, J., Tan, Z., & Yang, Y. (2014) · Journal of Zhejiang University SCIENCE B · doi:10.1631/jzus.b1400062 · Cited by 20

Targeted sequencing with microfluidics

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A Framework for Prioritizing Research Investments in Precision Medicine

Basu, A., Carlson, J. J., & Veenstra, D. L. (2015) · Medical Decision Making · doi:10.1177/0272989x15610780 · Cited by 22

A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement

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Targeted sequencing for high-resolution evolutionary analyses following genome duplication in salmonid fish: Proof of concept for key components of the insulin-like growth factor axis

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Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples

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A functional genomics approach to dissect spotted alfalfa aphid resistance in Medicago truncatula

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Development of a target capture sequencing SNP genotyping platform for genetic analysis and genomic breeding in rapeseed

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Partial short-read sequencing of a highly inbred Iberian pig and genomics inference thereof

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The Neurogenomics View of Neurological Diseases

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Evaluation of Allele Frequency Estimation Using Pooled Sequencing Data Simulation

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

Das, A. S., Agamanolis, D. P., & Cohen, B. H. (2014) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2014.07.032 · Cited by 19

Development of a robust DNA quality and quantity assessment qPCR assay for targeted next-generation sequencing library preparation

Dang, J., Méndez, P., Lee, S. C. L., Kim, J. W., Yoon, J., Kim, T. W., Sailey, C., Jablons, D. M., & Kim, I.-J. (2016) · International Journal of Oncology · doi:10.3892/ijo.2016.3654 · Cited by 19

Genomic characteristics of pancreatic squamous cell carcinoma, an investigation by using high throughput sequencing after in-solution hybrid capture

Xu, M., Liu, S., Yi-zhong, F., Liu, Q., Shen, M., Zhi, Q., Liu, Z., Gu, D., Yu, J., Shou, L., et al. (2017) · Oncotarget · doi:10.18632/oncotarget.14678 · Cited by 19

Exome Sequencing Analysis: A Guide to Disease Variant Detection

Isakov, O., Perrone, M. E., & Shomron, N. (2013) · Methods in molecular biology · doi:10.1007/978-1-62703-514-9_8 · Cited by 19

Target enrichment sequencing in cultivated peanut (Arachis hypogaea L.) using probes designed from transcript sequences

Peng, Z., Fan, W., Wang, L., Paudel, D., Leventini, D., Tillman, B. L., & Wang, J. (2017) · Molecular Genetics and Genomics · doi:10.1007/s00438-017-1327-z · Cited by 21

Whole exome sequencing: Uncovering causal genetic variants for ocular diseases

Gupta, S., Chatterjee, S., Mukherjee, A., & Mutsuddi, M. (2017) · Experimental Eye Research · doi:10.1016/j.exer.2017.08.013 · Cited by 19

Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism

Kajii, T. S., Oka, A., Saito, F., Mitsui, J., & Iida, J. (2019) · Bone · doi:10.1016/j.bone.2019.03.004 · Cited by 19

Targeted sequencing of candidate genes of dyslipidemia in Punjabi Sikhs: Population-specific rare variants in GCKR promote ectopic fat deposition

Sanghera, D. K., Hopkins, R., Malone-Perez, M. W., Bejar, C., Tan, C., Mussa, H. J., Whitby, P. W., Fowler, B., Rao, C. V., Fung, K.-M. A., et al. (2019) · PLoS ONE · doi:10.1371/journal.pone.0211661 · Cited by 19

Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia

Zhan, Z.-X., Liao, X., Du, J., Luo, Y., Hu, Z., Wang, J.-L., Yan, X., Zhang, J., Dai, M., Zhang, P., et al. (2013) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2013.04.008 · Cited by 19

The Rise and Rise of Exome Sequencing

Ku, C., Cooper, D. N., & Patrinos, G. P. (2016) · Public Health Genomics · doi:10.1159/000450991 · Cited by 21

Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis

Ku, C., Wu, M., Cooper, D. N., Naidoo, N., Yudi Pawitan, Y., Pang, B., Iacopetta, B. J., & Soong, R. (2012) · Expert Review of Molecular Diagnostics · doi:10.1586/erm.11.95 · Cited by 18

Whole-exome sequencing: a powerful technique for identifying novel genes of complex disorders

Sanders, S. (2010) · Clinical Genetics · doi:10.1111/j.1399-0004.2010.01585.x · Cited by 18

Analysis of SSR and SNP markers

Mishra, A., Singh, P. K., Bhandawat, A., Sharma, V. K., Sharma, V., Singh, P. P., Roy, J. K., & Sharma, H. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-89775-4.00017-1 · Cited by 18

Clinical metabolomics for inborn errors of metabolism

Ford, L. A., Mitchell, M. W., Wulff, J. E., Evans, A. M., Kennedy, A. D., Elsea, S. H., Wittmann, B. M., & Toal, D. R. (2022) · Advances in clinical chemistry · doi:10.1016/bs.acc.2021.09.001 · Cited by 18

Next generation sequencing and rare genetic variants: From human population studies to medical genetics

Matullo, G., Gaetano, C. D., & Guarrera, S. (2013) · Environmental and Molecular Mutagenesis · doi:10.1002/em.21799 · Cited by 21

What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseases

Liu, Y., Lee, Y., & Soong, B. (2015) · Journal of Neurogenetics · doi:10.3109/01677063.2015.1060972 · Cited by 18

Targeted Capture and Massively Parallel Sequencing of Twelve

Exomes, H., Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Abigail, W., Lee, C., Shaffer, T. S., Wong, M., Bhattacharjee, A., et al. (2016)

Exome Sequencing: Current and Future Perspectives

Warr, A., Robert, C., Hume, D. A., Archibald, A. L., Deeb, N., & Watson, M. (2015) · G3 Genes Genomes Genetics · doi:10.1534/g3.115.018564 · Cited by 226

Whole exome capture in solution with 3 Gbp of data

Bainbridge, M., Wang, M., Burgess, D. L., Kovar, C., Rodesch, M., D'Ascenzo, M. D., Kitzman, J., Wu, Y.-Q., Newsham, I., Richmond, T., et al. (2010) · Genome Biology · doi:10.1186/gb-2010-11-6-r62 · Cited by 30

Massively parallel sequencing of genome protein-coding regions (exomes)

(2009) · Science-Business eXchange · doi:10.1038/scibx.2009.1290

Genomic sequencing of rare diseases

Gonzaga-Jauregui, C. G., & Zepeda‐Mendoza, C. J. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-820140-4.00001-6 · Cited by 11