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1. 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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2. 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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3. 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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4. Full Text Whole-exome sequencing identifies multiple loss-of-function mutations of NF-κB pathway regulators in nasopharyngeal carcinoma
by Hong Zheng and Wei Dai and Arthur Kwok Leung Cheung and Josephine Mun Yee Ko and Rebecca Kan and Bonnie Wing Yan Wong and Merrin Man Long Leong and Mingdan Deng and Tommy Chin Tung Kwok and Jimmy Yu-Wai Chan and Dora Lai-Wan Kwong and Anne Wing-Mui Lee and Wai Tong Ng and Roger Kai Cheong Ngan and Chun Chung Yau and Stewart Tung and Victor Ho-fun Lee and Ka-On Lam and Chung Kong Kwan and Wing Sum Li and Stephen Yau and Kwok-Wah Chan and Maria Li Lung
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2016, Volume 113, Issue 40, pp. 11283 - 11288
Nasopharyngeal carcinoma (NPC) is an epithelial malignancy with a unique geographical distribution. The genomic abnormalities leading to NPC pathogenesis... 
Nasopharyngeal carcinoma | NF-κB signaling | APOBEC-mediated signature | Somatic mutation landscape | Whole-exome sequencing | PLINK | nasopharyngeal carcinoma | MULTIDISCIPLINARY SCIENCES | SIGNALS | PATTERNS | CANCER | DISCOVERY | somatic mutation landscape | IMPACT | FRAMEWORK | SUSCEPTIBILITY GENE | NF-kappa B signaling | whole-exome sequencing | Nasopharyngeal Neoplasms - genetics | Nasopharyngeal Carcinoma | Humans | NF-KappaB Inhibitor alpha - metabolism | Cell Line, Tumor | Carcinoma - genetics | Mutation Rate | NF-kappa B - metabolism | Signal Transduction - genetics | Whole Exome Sequencing - methods | Gene Knockdown Techniques | Loss of Function Mutation - genetics | Index Medicus | Biological Sciences
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5. Full Text Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
by Monroe, Glen R and Frederix, Gerardus W and Savelberg, Sanne M C and De Vries, Tamar I and Duran, Karen J and Van Der Smagt, Jasper J and Terhal, Paulien A and Van Hasselt, Peter M and Kroes, Hester Y and Verhoeven-Duif, Nanda M and Nijman, Isaäc J and Carbo, Ellen C and Van Gassen, Koen L and Knoers, Nine V and Hövels, Anke M and Van Haelst, Mieke M and Visser, Gepke and Van Haaften, Gijs
Genetics in Medicine, ISSN 1098-3600, 09/2016, Volume 18, Issue 9, pp. 949 - 956
PURPOSE: This study investigated whole-exome sequencing (WES) yield in a subset of intellectually disabled patients referred to our clinical diagnostic center... 
clinical management | cost analysis | whole-exome sequencing | intellectual disability | MENTAL-RETARDATION | VARIANTS | DECIPHER DATABASE | PHENOTYPE | DISORDERS | UNDIAGNOSED GENETIC CONDITIONS | NEUROLOGY | DISEASE | GENETICS & HEREDITY | MUTATIONS | BURDEN | Whole Exome Sequencing - economics | Costs and Cost Analysis | Humans | Male | Sequence Analysis, DNA | Whole Exome Sequencing - methods | Intellectual Disability - genetics | Exome | Intellectual Disability - diagnosis | Intellectual Disability - economics | Female | High-Throughput Nucleotide Sequencing | Genetic Testing - economics
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6. Full Text Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability
by Riazuddin, S and Hussain, M and Razzaq, A and Iqbal, Z and Shahzad, M and Polla, D.L and Song, Y and Van Beusekom, E and Khan, A.A and Tomas-Roca, L and Rashid, M and Zahoor, M.Y and Wissink-Lindhout, W.M and Basra, M.A.R and Ansar, M and Agha, Z and Van Heeswijk, K and Rasheed, F and Van De Vorst, M and Veltman, J.A and Gilissen, C and Akram, J and Kleefstra, T and Assir, M.Z and Grozeva, D and Carss, K and Raymond, F.L and O'Connor, T.D and Riazuddin, S.A and Khan, S.N and Ahmed, Z.M and De Brouwer, A.P.M and Van Bokhoven, H and UK10K
Molecular Psychiatry, ISSN 1359-4184, 11/2017, Volume 22, Issue 11, pp. 1604 - 1614
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1-3% of the general population. Although research into the... 
MORTALITY | METABOLIC CRISES | AUTISM | PSYCHIATRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | MARRIAGE | SCHIZOPHRENIA | NETWORKS | NONSYNDROMIC MENTAL-RETARDATION | NEUROSCIENCES | DE-NOVO MUTATIONS | COGNITIVE DISORDERS | DEAFNESS | Exome - genetics | Gene Frequency - genetics | Pakistan | Pedigree | Humans | Alleles | Genetic Association Studies - methods | Family | Consanguinity | Mutation | Whole Exome Sequencing - methods | Intellectual Disability - genetics | Care and treatment | Usage | Gene mutations | Exome sequencing | Diagnosis | Research | Mental retardation | Causes and theories of causation | Diseases | Brain | Pathogens | Transcription | Intellectual disabilities | Genes | Fetuses | Cognitive ability | Gene expression | Tissues | Neurogenesis | Gene sequencing | Pathogenicity | Proteins | Molecular modelling | Cortex (parietal) | Cortex (frontal) | Aridity | Id protein | Bioinformatics | Cortex (temporal) | Deoxyribonucleic acid--DNA | Original
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7. Full Text Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing
by Balci, T.B and Hartley, T and Xi, Y and Dyment, D.A and Beaulieu, C.L and Bernier, F.P and Dupuis, L and Horvath, G.A and Mendoza‐Londono, R and Prasad, C and Richer, J and Yang, X.‐R and Armour, C.M and Bareke, E and Fernandez, B.A and McMillan, H.J and Lamont, R.E and Majewski, J and Parboosingh, J.S and Prasad, A.N and Rupar, C.A and Schwartzentruber, J and Smith, A.C and Tétreault, M and Innes, A.M and Boycott, K.M and Care4Rare Canada Consortium and FORGE Canada Consortium
Clinical Genetics, ISSN 0009-9163, 09/2017, Volume 92, Issue 3, pp. 281 - 289
BackgroundRecent clinical whole exome sequencing (WES) cohorts have identified unanticipated multiple genetic diagnoses in single patients. However, the... 
rare diseases | exome sequencing | dual diagnosis | blended phenotypes | multiple genetic diseases | ICHTHYOSIS | GENETICS & HEREDITY | PHENOTYPES | MUTATIONS | INHERITANCE | GENOME | DISCOVERY | Genetic Predisposition to Disease | Genetic Testing | Genetic Association Studies | Humans | Genetic Diseases, Inborn - genetics | Child, Preschool | Genotype | Male | Genetic Diseases, Inborn - epidemiology | Whole Exome Sequencing - methods | Phenotype | Canada - epidemiology | Pedigree | Family | Female | Consanguinity | Retrospective Studies | Mutation | Genetic Diseases, Inborn - diagnosis | Siblings | Genetic research | Research institutes | Genomics | Medical genetics | Genetic counseling | Genetic disorders | Research programs | Phenotyping
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8. Full Text Whole-exome sequencing of cell-free DNA and circulating tumor cells in multiple myeloma
by Manier, S and Park, J and Capelletti, M and Bustoros, M and Freeman, S.S and Ha, G and Rhoades, J and Liu, C.J and Huynh, D and Reed, S.C and Gydush, G and Salem, K.Z and Rotem, D and Freymond, C and Yosef, A and Perilla-Glen, A and Garderet, L and Van Allen, E.M and Kumar, S and Love, J.C and Getz, G and Adalsteinsson, V.A and Ghobrial, I.M
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1691 - 11
Liquid biopsies including circulating tumor cells (CTCs) and cell-free DNA (cfDNA) have enabled minimally invasive characterization of many cancers, but are... 
WORKING GROUP | EVOLUTION | MULTIDISCIPLINARY SCIENCES | BIOPSY | ACQUIRED-RESISTANCE | FRAMEWORK | CHRONIC LYMPHOCYTIC-LEUKEMIA | MUTATIONS | SAMPLES | HUMAN CANCER | Circulating Tumor DNA - genetics | Liquid Biopsy - methods | Humans | Middle Aged | Male | DNA Copy Number Variations - genetics | Mutation - genetics | Whole Exome Sequencing - methods | Disease Progression | Multiple Myeloma - pathology | Bone Marrow - pathology | Neoplastic Cells, Circulating | Aged, 80 and over | Adult | Female | Aged | Biomarkers, Tumor - genetics | Multiple Myeloma - genetics | Precision Medicine - methods | Tumor cells | Copy number | Invasiveness | Multiple myeloma | Low pass | Genomes | Patients | Blood | Gene sequencing | Biopsy | Mutation | Deoxyribonucleic acid--DNA | DNA sequencing | Tumors | Cancer
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9. Full Text Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families
by Harripaul, R and Vasli, N and Mikhailov, A and Rafiq, M.A and Mittal, K and Windpassinger, C and Sheikh, T.I and Noor, A and Mahmood, H and Downey, S and Johnson, M and Vleuten, K and Bell, L and Ilyas, M and Khan, F.S and Khan, V and Moradi, M and Ayaz, M and Naeem, F and Heidari, A and Ahmed, I and Ghadami, S and Agha, Z and Zeinali, S and Qamar, R and Mozhdehipanah, H and John, P and Mir, A and Ansar, M and French, L and Ayub, M and Vincent, J.B
Molecular Psychiatry, ISSN 1359-4184, 04/2017, Volume 23, Issue 4, pp. 973 - 984
Approximately 1% of the global population is affected by intellectual disability (ID), and the majority receive no molecular diagnosis. Previous studies have... 
METHYLTRANSFERASE | MENTAL-RETARDATION | PSYCHIATRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | TRANSCRIPTION | SCHIZOPHRENIA | DISORDERS | TRAPPC9 | NEUROSCIENCES | DE-NOVO MUTATIONS | PROTEOME-SCALE MAP | BINDING | DELETIONS | Microarray Analysis - methods | Loss of Function Mutation | Humans | Middle Aged | Male | Genes, Recessive | Whole Exome Sequencing - methods | Genetic Heterogeneity | DNA Copy Number Variations | Intellectual Disability - genetics | Intellectual Disability - metabolism | Homozygote | Pakistan | Iran | Pedigree | Chromosome Mapping - methods | Adult | Family | Female | Consanguinity | Mutation | Usage | Gene mutations | Copy number variations | Exome sequencing | Genetic aspects | Research | Mental retardation | Brain | Populations | Transcription | Mental disorders | Intellectual disabilities | Copy number | Genes | Disorders | Genomes | Mapping | Homozygosity | Gene expression | Gene sequencing | Missense mutation | Brain-derived neurotrophic factor | DNA microarrays | Genotyping | Aridity | Gene mapping
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10. Full Text Elucidating the genomic architecture of Asian EGFR-mutant lung adenocarcinoma through multi-region exome sequencing
by Nahar, Rahul and Zhai, Weiwei and Zhang, Tong and Takano, Angela and Khng, Alexis J and Lee, Yin Yeng and Liu, Xingliang and Lim, Chong Hee and Koh, Tina P. T and Aung, Zaw Win and Lim, Tony Kiat Hon and Veeravalli, Lavanya and Yuan, Ju and Teo, Audrey S. M and Chan, Cheryl X and Poh, Huay Mei and Chua, Ivan M. L and Liew, Audrey Ann and Lau, Dawn Ping Xi and Kwang, Xue Lin and Toh, Chee Keong and Lim, Wan-Teck and Lim, Bing and Tam, Wai Leong and Tan, Eng-Huat and Hillmer, Axel M and Tan, Daniel S. W
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 216 - 11
EGFR-mutant lung adenocarcinomas (LUAD) display diverse clinical trajectories and are characterized by rapid but short-lived responses to EGFR tyrosine kinase... 
MUTATIONAL PROCESSES | EVOLUTION | AMPLIFICATION | INSTABILITY | LANDSCAPE | MULTIDISCIPLINARY SCIENCES | GROWTH | CANCER GENOME | COPY-NUMBER ALTERATION | TUMOR HETEROGENEITY | DISCOVERY | Lung Neoplasms - genetics | Lung Neoplasms - ethnology | Genetic Predisposition to Disease - genetics | Adenocarcinoma - pathology | Humans | Asian Continental Ancestry Group - genetics | ErbB Receptors - genetics | Lung Neoplasms - pathology | Whole Exome Sequencing - methods | Drug Resistance, Neoplasm - genetics | Cell Line, Tumor | Genetic Predisposition to Disease - ethnology | Adenocarcinoma - genetics | Protein Kinase Inhibitors - pharmacology | Adenocarcinoma - ethnology | Mutation | Genomics - methods | Drug Resistance, Neoplasm - drug effects | Tyrosine | Adenocarcinoma | Stability | Epidermal growth factor receptors | Architecture | p53 Protein | Aneuploidy | Genomes | Mutation rates | Drug resistance | Genomic instability | Lungs | Cell cycle | Protein-tyrosine kinase | Tumors | Smoking
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11. Full Text Participant use and communication of findings from exome sequencing: A mixed-methods study
by Lewis, Katie L and Hooker, Gillian W and Connors, Philip D and Hyams, Travis C and Wright, Martha F and Caldwell, Samantha and Biesecker, Leslie G and Biesecker, Barbara B
Genetics in Medicine, ISSN 1098-3600, 06/2016, Volume 18, Issue 6, pp. 577 - 583
Purpose: This study investigated how genome sequencing results affect health behaviors, affect, and communication. Methods: We report on 29 participants who... 
genome | utility | outcomes | experiences | sequencing | VARIANTS | FUTURE | CANCER | INCIDENTAL FINDINGS | RETURN | PREFERENCES | DISEASE | GENETICS & HEREDITY | Humans | Middle Aged | Health Personnel - psychology | Male | Disclosure | Sequence Analysis, DNA | Genome, Human - genetics | Whole Exome Sequencing | Healthy Volunteers - psychology | Adult | Family | Female | Communication
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12. Full Text Identification of a rare COCH mutation by whole-exome sequencing
: Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss
by Parzefall, Thomas and Frohne, Alexandra and Koenighofer, Martin and Kirchnawy, Andreas and Streubel, Berthold and Schoefer, Christian and Gstoettner, Wolfgang and Frei, Klemens and Lucas, Trevor
Wiener klinische Wochenschrift, ISSN 0043-5325, 5/2018, Volume 130, Issue 9, pp. 299 - 306
Non-syndromic autosomal dominant hearing impairment is characteristically postlingual in onset. Genetic diagnostics are essential for genetic counselling,... 
Pneumology/Respiratory System | Medicine & Public Health | Non-syndromic hereditary hearing loss | Whole-exome sequencing | Gastroenterology | Cochlear implant | Internal Medicine | Autosomal-dominant hearing loss | Medicine/Public Health, general | Endocrinology | Cochlin | LOCALIZATION | ELECTRIC-ACOUSTIC STIMULATION | INNER-EAR | PROTEIN | DFNA9 DEAFNESS | SENSORINEURAL DEAFNESS | MEDICINE, GENERAL & INTERNAL | GENE | VESTIBULAR DISORDER | IMPLANTATION | GOOD CANDIDATES | Exome | Austria | Hearing Loss, Sensorineural - rehabilitation | Extracellular Matrix Proteins | Pedigree | Europe | Humans | Female | Male | Hearing Loss, Sensorineural - genetics | Mutation | Whole Exome Sequencing - methods | Implants, Artificial | Prosthesis | Genomics | Medical genetics | Genetic aspects | Nucleotide sequencing | Health aspects | Population genetics | Hearing loss | DNA sequencing | Original
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