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1. Full Text Whole-exome sequencing in undiagnosed genetic diseases: Interpreting 119 trios
by Zhu, Xiaolin and Petrovski, Slavé and Xie, Pingxing and Ruzzo, Elizabeth K and Lu, Yi-Fan and McSweeney, K. Melodi and Ben-Zeev, Bruria and Nissenkorn, Andreea and Anikster, Yair and Oz-Levi, Danit and Dhindsa, Ryan S and Hitomi, Yuki and Schoch, Kelly and Spillmann, Rebecca C and Heimer, Gali and Marek-Yagel, Dina and Tzadok, Michal and Han, Yujun and Worley, Gordon and Goldstein, Jennifer and Jiang, Yong-Hui and Lancet, Doron and Pras, Elon and Shashi, Vandana and Mchale, Duncan and Need, Anna C and Goldstein, David B
Genetics in Medicine, ISSN 1098-3600, 10/2015, Volume 17, Issue 10, pp. 774 - 781
Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for comprehensive genomic interpretation remain immature. Diagnoses are... 
genic intolerance | diagnosis | HNRNPU | rare disease | whole-exome sequencing | PROTEIN | DE-NOVO MUTATIONS | GENETICS & HEREDITY | FRAMEWORK | GENOME | CHILDREN | Computational Biology - methods | Genetic Association Studies | Humans | Genetic Diseases, Inborn - genetics | Genotype | Male | Exome | Phenotype | Female | High-Throughput Nucleotide Sequencing | Mutation | Genomics - methods | Genetic Diseases, Inborn - diagnosis | Original
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2. Full Text The promise of whole-exome sequencing in medical genetics
by Rabbani, Bahareh and Tekin, Mustafa and Mahdieh, Nejat
Journal of Human Genetics, ISSN 1434-5161, 01/2014, Volume 59, Issue 1, pp. 5 - 15
Massively parallel DNA-sequencing systems provide sequence of huge numbers of different DNA strands at once. These technologies are revolutionizing our... 
medical genomics | common disease | Mendelian disorder | whole-exome sequencing | Cancer | NONSYNDROMIC HEARING-LOSS | MENTAL-RETARDATION | INTELLECTUAL-DISABILITY SYNDROME | RECURRENT SOMATIC MUTATIONS | POLYMERASE-CHAIN-REACTION | DE-NOVO MUTATIONS | COFFIN-SIRIS SYNDROME | IDENTIFIES FREQUENT MUTATION | CAUSE GENITOPATELLAR SYNDROME | HUMAN GENOME SEQUENCE | GENETICS & HEREDITY | cancer | Exome | Genetic Predisposition to Disease | Genetics, Medical - methods | Humans | Genetics, Medical - trends | High-Throughput Nucleotide Sequencing | Genetic Testing - trends | Research | Genomics - methods | Genetic Testing - methods | Genomics - trends
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3. Full Text Molecular diagnostic experience of whole-exome sequencing in adult patients
by Posey, Jennifer E and Rosenfeld, Jill A and James, Regis A and Bainbridge, Matthew and Niu, Zhiyv and Wang, Xia and Dhar, Shweta and Wiszniewski, Wojciech and Akdemir, Zeynep H. C and Gambin, Tomasz and Xia, Fan and Person, Richard E and Walkiewicz, Magdalena and Shaw, Chad A and Sutton, V. Reid and Beaudet, Arthur L and Muzny, Donna and Eng, Christine M and Yang, Yaping and Gibbs, Richard A and Lupski, James R and Boerwinkle, Eric and Plon, Sharon E
Genetics in Medicine, ISSN 1098-3600, 07/2016, Volume 18, Issue 7, pp. 678 - 685
Purpose: Whole-exome sequencing (WES) is increasingly used as a diagnostic tool in medicine, but prior reports focus on predominantly pediatric cohorts with... 
whole-exome sequencing | adult patients | ACMG RECOMMENDATIONS | MENDELIAN DISORDERS | PHENOTYPE | STANDARDS | INTELLECTUAL DISABILITY | INCIDENTAL FINDINGS | GENOMICS | DISEASE | GENETICS & HEREDITY | MUTATIONS | CLINICAL EXOME | Exome - genetics | Genetic Predisposition to Disease | Genetic Testing | Humans | Pathology, Molecular - methods | Adult | Female | Male | Genetic Diseases, Inborn - epidemiology | Genome, Human | High-Throughput Nucleotide Sequencing - methods | Genetic Diseases, Inborn - diagnosis | whole exome sequencing
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4. Full Text The usefulness of whole-exome sequencing in routine clinical practice
by Iglesias, Alejandro and Anyane-Yeboa, Kwame and Wynn, Julia and Wilson, Ashley and Truitt Cho, Megan and Guzman, Edwin and Sisson, Rebecca and Egan, Claire and Chung, Wendy K
Genetics in Medicine, ISSN 1098-3600, 12/2014, Volume 16, Issue 12, pp. 922 - 931
Purpose: Reports of the use of whole-exome sequencing in clinical practice are limited. We report our experience with whole-exome sequencing in 115 patients in... 
undiagnosed genetic disorders | clinical evaluation | whole-exome sequencing | genetic testing | MUTATIONS | GENETICS & HEREDITY | Reproducibility of Results | Genetic Testing | Humans | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | DNA Mutational Analysis - methods | Exome | Pregnancy | Young Adult | Phenotype | Pedigree | Karyotyping | Adolescent | Adult | Female | Consanguinity | High-Throughput Nucleotide Sequencing | Retrospective Studies | Mutation | Child | Developmental Disabilities - diagnosis | Infant, Newborn
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5. Full Text Exome sequencing in undiagnosed inherited and sporadic ataxias
by Pyle, Angela and Smertenko, Tania and Bargiela, David and Griffin, Helen and Duff, Jennifer and Appleton, Marie and Douroudis, Konstantinos and Pfeffer, Gerald and Santibanez-Koref, Mauro and Eglon, Gail and Yu-Wai-Man, Patrick and Ramesh, Venkateswaran and Horvath, Rita and Chinnery, Patrick F
Brain, ISSN 0006-8950, 02/2015, Volume 138, Issue 2, pp. 276 - 283
Inherited ataxias are clinically and genetically heterogeneous, and a molecular diagnosis is not possible in most patients. Having excluded common sporadic,... 
Whole exome sequencing | Ataxia | DIAGNOSIS | HEREDITARY SPASTIC PARAPLEGIA | ATROPHY | DISORDERS | NEUROSCIENCES | whole exome sequencing | CLINICAL NEUROLOGY | IMPAIRMENT | ataxia | GENE | CEREBELLAR-ATAXIA | DISEASE | SPG15 | MUTATIONS | Reports
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6. Full Text Whole exome sequencing in patients with white matter abnormalities
by Vanderver, Adeline and Simons, Cas and Helman, Guy and Crawford, Joanna and Wolf, Nicole I and Bernard, Geneviève and Pizzino, Amy and Schmidt, Johanna L and Takanohashi, Asako and Miller, David and Khouzam, Amirah and Rajan, Vani and Ramos, Erica and Chowdhury, Shimul and Hambuch, Tina and Ru, Kelin and Baillie, Gregory J and Grimmond, Sean M and Caldovic, Ljubica and Devaney, Joseph and Bloom, Miriam and Evans, Sarah H and Murphy, Jennifer L. P and McNeill, Nathan and Fogel, Brent L and Schiffmann, Raphael and van der Knaap, Marjo S and Taft, Ryan J and Gropman, Andrea L and Rosser, Tena and Pearl, Phillip L and Fung, Eva and Parikh, Sumit and Cohen, Bruce H and Reggin, James D and Yalcinkaya, Cengiz and Shafrir, Yuval and MarcDiFazio and Freilich, Emily and Lourenco, Charles M and Tesi‐Rocha, Carolina and Desai, Jay and Amartino, Hernan and Weaver, K. Nicole and Long, Valynne and Gambello, Michael J and Cirillo, Melissa L and Kahn, Ilana and Gill, Deepak and Gieron, Maria and de Los Reyes, Emily and Lavenstein, Bennett and Lanpher, Brendan C and Kurleman, Gerhard and Leukodystrophy Study Grp and Leukodystrophy Study Group
Annals of Neurology, ISSN 0364-5134, 06/2016, Volume 79, Issue 6, pp. 1031 - 1037
Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities with a suspected diagnosis of... 
INTELLECTUAL DISABILITY | DIAGNOSIS | LEUKOENCEPHALOPATHY | HYPOMYELINATION | DE-NOVO MUTATION | GENE | LEUKODYSTROPHIES | DISEASE | DISORDERS | NEUROSCIENCES | GENOME | CLINICAL NEUROLOGY | Leukoencephalopathies - pathology | Leukoencephalopathies - genetics | Humans | Child, Preschool | Male | White Matter - pathology | Young Adult | Exome - genetics | DNA Mutational Analysis | Leukoencephalopathies - diagnosis | Adolescent | Adult | Female | Mutation | Child | Attention deficit disorder | Leukodystrophy | Abnormalities | Diagnostic systems | Substantia alba | Leukoencephalopathy | Patients | Incidental Findings | MRI Pattern Recognition | Whole Exome Sequencing
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7. Full Text Whole exome sequencing in the rat
by Foley, Julie F and Phadke, Dhiral P and Hardy, Owen and Hardy, Sara and Miller, Victor and Madan, Anup and Howard, Kellie and Kruse, Kimberly and Lord, Cara and Ramaiahgari, Sreenivasa and Solomon, Gregory G and Shah, Ruchir R and Pandiri, Arun R and Herbert, Ronald A and Sills, Robert C and Alex Merrick, B
BMC Genomics, ISSN 1471-2164, 06/2018, Volume 19, Issue 1, pp. 487 - 14
Background: The rat genome was sequenced in 2004 with the aim to improve human health altered by disease and environmental influences through gene discovery... 
COSMIC | Whole exome sequencing | Sanger | NBTII | DSL-6A/C1 | Next generation sequencing | FAT7 | CELL-LINES | TUMORS | GENOME | C6 | GENE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | Exome - genetics | Animals | Humans | Cyclin-Dependent Kinase Inhibitor p16 - genetics | Rats | Mice | Tissue Fixation | High-Throughput Nucleotide Sequencing - methods | Sequence Analysis, DNA - methods | Whole Exome Sequencing - methods | Animal experimentation | Usage | Exon (Molecular genetics) | Exome sequencing | Rattus | Genetic aspects | Research | Biotechnology | Exons | Liver | Genomics | Genes | Genomes | Paraffin | Data bases | Gene sequencing | Design | Toxicology | Databases | Annotations | Next-generation sequencing | Etiology | Rodents | Animal tissues | Performance measurement | Probes | Informatics | Deoxyribonucleic acid--DNA | Paraffins | DNA probes | Nucleotide sequence | Uniqueness | Tumor cell lines | Organic chemistry | Genetic testing | Mutation | Laboratory animals | Cancer | Tumors | DNA sequencing
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8. Full Text Exome sequencing: Current and future perspectives
by Warr, Amanda and Robert, Christelle and Hume, David and Archibald, Alan and Deeb, Nader and Watson, Mick
G3: Genes, Genomes, Genetics, ISSN 2160-1836, 2015, Volume 5, Issue 8, pp. 1543 - 1550
IMPUTATION | WHOLE-GENOME | GENE | VARIANTS | IDENTIFIES SOMATIC MUTATIONS | DISEASE | GENETICS & HEREDITY | BLACK COTTONWOOD | SAMPLES | CAPTURE | DISCOVERY | DNA - chemistry | Exome - genetics | Animals | Plants - genetics | Genetic Markers - genetics | Humans | High-Throughput Nucleotide Sequencing | DNA - metabolism | Genome | Sequence Analysis, DNA
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9. Full Text Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
by Meng, Linyan and Pammi, Mohan and Saronwala, Anirudh and Magoulas, Pilar and Ghazi, Andrew Ray and Vetrini, Francesco and Zhang, Jing and He, Weimin and Dharmadhikari, Avinash V and Qu, Chunjing and Ward, Patricia and Braxton, Alicia and Narayanan, Swetha and Ge, Xiaoyan and Tokita, Mari J and Santiago-Sim, Teresa and Dai, Hongzheng and Chiang, Theodore and Smith, Hadley and Azamian, Mahshid S and Robak, Laurie and Bostwick, Bret L and Schaaf, Christian P and Potocki, Lorraine and Scaglia, Fernando and Bacino, Carlos A and Hanchard, Neil A and Wangler, Michael F and Scott, Daryl and Brown, Chester and Hu, Jianhong and Belmont, John W and Burrage, Lindsay C and Graham, Brett H and Sutton, Vernon Reid and Craigen, William J and Plon, Sharon E and Lupski, James R and Beaudet, Arthur L and Gibbs, Richard A and Muzny, Donna M and Miller, Marcus J and Wang, Xia and Leduc, Magalie S and Xiao, Rui and Liu, Pengfei and Shaw, Chad and Walkiewicz, Magdalena and Bi, Weimin and Xia, Fan and Lee, Brendan and Eng, Christine M and Yang, Yaping and Lalani, Seema R
JAMA Pediatrics, ISSN 2168-6203, 12/2017, Volume 171, Issue 12, pp. e173438 - e173438
IMPORTANCE: While congenital malformations and genetic diseases are a leading cause of early infant death, to our knowledge, the contribution of single-gene... 
STATEMENT | MORTALITY | DIAGNOSIS | RECOMMENDATIONS | PEDIATRICS | WHOLE | CLINICAL EXOME | Critical Care - methods | Infant Care - methods | Humans | Genetic Diseases, Inborn - genetics | Genetic Counseling - methods | Infant | Intensive Care Units, Pediatric | Genetic Diseases, Inborn - therapy | Whole Exome Sequencing - methods | Exome | Texas | Adult | Disease Management | Retrospective Studies | Genetic Diseases, Inborn - diagnosis | Infant, Newborn | Length of Stay - statistics & numerical data
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10. Full Text Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency
by Maffucci, P and Filion, CA and Boisson, B and Itan, Y and Shang, L and Casanova, JL and Cunningham-Rundles, C
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 06/2016, Volume 7, p. 220
Whole exome sequencing (WES) has proven an effective tool for the discovery of genetic defects in patients with primary immunodeficiencies (PIDs). However,... 
VARIANTS | next-generation sequencing | LRBA | IKAROS | STXBP2 | genetic diagnosis | common variable immunodeficiency | IMMUNOLOGY | whole exome sequencing | DEFICIENCY | GENOME | IMMUNE DYSREGULATION | primary immunodeficiencies | FRAMEWORK | UPDATE | MUTATIONS | Genetic research | Immunological deficiency syndromes | B cells
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11. Full Text Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
by Helbig, Katherine L and Farwell Hagman, Kelly D and Shinde, Deepali N and Mroske, Cameron and Powis, Zöe and Li, Shuwei and Tang, Sha and Helbig, Ingo
Genetics in Medicine, ISSN 1098-3600, 09/2016, Volume 18, Issue 9, pp. 898 - 905
Purpose: To assess the yield of diagnostic exome sequencing (DES) and to characterize the molecular findings in characterized and novel disease genes in... 
epilepsy | seizure | whole-exome sequencing | diagnostic yield | epileptic encephalopathy | ENCEPHALOPATHIES | DISORDERS | GENOME | INTELLECTUAL DISABILITY | DE-NOVO MUTATIONS | GENETICS | GENES | GENETICS & HEREDITY | SPECTRUM | DELAY | REVEALS | Genetic Predisposition to Disease | Microtubule-Associated Proteins - genetics | Humans | Child, Preschool | Infant | Male | Mitochondrial Proteins - genetics | Epilepsy - physiopathology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Whole Exome Sequencing - methods | Epilepsy - diagnosis | GTP Phosphohydrolases - genetics | Adolescent | Adult | Epilepsy - genetics | Female | Child | Pathology, Molecular | Infant, Newborn | Index Medicus
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12. Full Text Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors
by Adalsteinsson, Viktor A and Ha, Gavin and Freeman, Samuel S and Choudhury, Atish D and Stover, Daniel G and Parsons, Heather A and Gydush, Gregory and Reed, Sarah C and Rotem, Denisse and Rhoades, Justin and Loginov, Denis and Livitz, Dimitri and Rosebrock, Daniel and Leshchiner, Ignaty and Kim, Jaegil and Stewart, Chip and Rosenberg, Mara and Francis, Joshua M and Zhang, Cheng-Zhong and Cohen, Ofir and Oh, Coyin and Ding, Huiming and Polak, Paz and Lloyd, Max and Mahmud, Sairah and Helvie, Karla and Merrill, Margaret S and Santiago, Rebecca A and O'Connor, Edward P and Jeong, Seong H and Leeson, Rachel and Barry, Rachel M and Kramkowski, Joseph F and Zhang, Zhenwei and Polacek, Laura and Lohr, Jens G and Schleicher, Molly and Lipscomb, Emily and Saltzman, Andrea and Oliver, Nelly M and Marini, Lori and Waks, Adrienne G and Harshman, Lauren C and Tolaney, Sara M and Van Allen, Eliezer M and Winer, Eric P and Lin, Nancy U and Nakabayashi, Mari and Taplin, Mary-Ellen and Johannessen, Cory M and Garraway, Levi A and Golub, Todd R and Boehm, Jesse S and Wagle, Nikhil and Getz, Gad and Love, J. Christopher and Meyerson, Matthew
Nature Communications, ISSN 2041-1723, 12/2017, Volume 8, Issue 1, pp. 1324 - 13
Whole-exome sequencing of cell-free DNA (cfDNA) could enable comprehensive profiling of tumors from blood but the genome-wide concordance between cfDNA and... 
COMPREHENSIVE MOLECULAR PORTRAITS | BREAST-CANCER | LUNG-CANCER | EVOLUTION | SIGNATURES | MULTIDISCIPLINARY SCIENCES | PROSTATE-CANCER | PLASMA DNA | MUTATIONAL LANDSCAPE | CHRONIC LYMPHOCYTIC-LEUKEMIA | CIRCULAR BINARY SEGMENTATION | Antigens, Neoplasm - genetics | Breast Neoplasms - secondary | Prospective Studies | Humans | Male | Gene Dosage | Cell-Free Nucleic Acids - genetics | Breast Neoplasms - drug therapy | Whole Exome Sequencing - methods | Neoplasm Metastasis - genetics | Prostatic Neoplasms - secondary | Breast Neoplasms - genetics | Prostatic Neoplasms - genetics | DNA, Neoplasm - blood | Neoplasm Metastasis - drug therapy | DNA Mutational Analysis | Cell-Free Nucleic Acids - blood | Female | Software | DNA, Neoplasm - genetics | Prostatic Neoplasms - drug therapy | Whole Exome Sequencing - statistics & numerical data | Profiling | Identification methods | Copy number | Genomes | Metastasis | Patients | Blood | Gene sequencing | Metastases | Mutation | Prostate | Deoxyribonucleic acid--DNA | Tumors | DNA sequencing
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