المؤلفون: Todd Lingren, Pei Chen, Joseph Bochenek, Finale Doshi-Velez, Patty Manning-Courtney, Julie Bickel, Leah Wildenger Welchons, Judy Reinhold, Nicole Bing, Yizhao Ni, William Barbaresi, Frank Mentch, Melissa Basford, Joshua Denny, Lyam Vazquez, Cassandra Perry, Bahram Namjou, Haijun Qiu, John Connolly, Debra Abrams, Ingrid A Holm, Beth A Cobb, Nataline Lingren, Imre Solti, Hakon Hakonarson, Isaac S Kohane, John Harley, Guergana Savova

المصدر: PLoS ONE, Vol 11, Iss 7, p e0159621 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/53c598ebe2b14c73afbb91101e9cdb16Test

المؤلفون: Debra J. Abrams, Anna Cederquist, Berta Almoguera, Hakon Hakonarson, Emily L. McGinnis, Lyam Vazquez, Patrick M. A. Sleiman, Dennis J. Dlugos

المصدر: Acta Neurologica Scandinavica. 140:169-176

مصطلحات موضوعية: Adult, Male, Drug Resistant Epilepsy, Drug Resistance, Drug resistance, Tropomyosin receptor kinase B, Biology, urologic and male genital diseases, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Drug response, medicine, Humans, Receptor, trkB, 030212 general & internal medicine, Gene, Membrane Glycoproteins, Transporter, General Medicine, medicine.disease, Phenotype, Neurology, Pharmacogenomics, Female, Neurology (clinical), Algorithm, Algorithms, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::198738bc3c512dae40e588abfd7235f3Test
https://doi.org/10.1111/ane.13115Test

المؤلفون: John J. Connolly, eMERGE Outcomes Workgroup, Hakon Hakonarson, Erik B. Hysinger, Lyam Vazquez, Nikita Sood, Patrick M. A. Sleiman, Frank D. Mentch

المصدر: Pharmacogenetics and Genomics. 28:256-259

مصطلحات موضوعية: 0301 basic medicine, Nonsynonymous substitution, medicine.medical_specialty, Lung, Exacerbation, business.industry, Single-nucleotide polymorphism, medicine.disease, Minor allele frequency, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, 030228 respiratory system, Internal medicine, Genotype, Genetics, medicine, Molecular Medicine, General Pharmacology, Toxicology and Pharmaceutics, business, Molecular Biology, Genetics (clinical), Pharmacogenetics, Asthma

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::165d3bb68a9291985c52b9e84808da0dTest
https://doi.org/10.1097/fpc.0000000000000355Test

المؤلفون: Peggy L. Peissig, Esteban G. Burchard, Michael E. March, Maria Pino-Yanes, Lyam Vazquez, James G. Linneman, John J. Connolly, Frank D. Mentch, Berta Almoguera, María del Carmen Plaza-Serón, Patrick M. A. Sleiman, Murray H. Brilliant, Hakon Hakonarson

المصدر: The Journal of allergy and clinical immunology. 143(3)

مصطلحات موضوعية: Genetics, Extramural, business.industry, Immunology, RNA, Signal transducing adaptor protein, Membrane Proteins, Locus (genetics), Atopic dermatitis, medicine.disease, Polymorphism, Single Nucleotide, White People, Dermatitis, Atopic, Black or African American, DNA-Binding Proteins, Genetic Loci, medicine, Immunology and Allergy, Humans, RNA, Long Noncoding, Thiolester Hydrolases, business, Adaptor Proteins, Signal Transducing, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53d6117b7ece9efe39761da2d62964b3Test
https://pubmed.ncbi.nlm.nih.gov/30414857Test

المؤلفون: Jinlong Liang, James Snyder, Cong Yu, Yi Xie, Lyam Vazquez, Nada Abdel-Magid, Ivan Prokudin, Hakon Hakonarson, Robyn V. Jamieson, Brendan J. Keating, Fengxiang Wang, Craig Donaldson, Stephanie Crofts, Jun Wang, Yiran Guo, Maree Flaherty, Lifeng Tian

المصدر: Ophthalmic Genetics. 36:333-338

مصطلحات موضوعية: Proband, DNA Mutational Analysis, Leber Congenital Amaurosis, Molecular Sequence Data, Visual Acuity, Biology, Polymorphism, Single Nucleotide, Consanguinity, symbols.namesake, Retinitis pigmentosa, Electroretinography, medicine, Humans, Exome, Amino Acid Sequence, Child, Eye Proteins, Gene, Genetics (clinical), Exome sequencing, Sanger sequencing, Genetics, Base Sequence, Genetic heterogeneity, High-Throughput Nucleotide Sequencing, medicine.disease, Pedigree, Ophthalmology, Codon, Nonsense, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), symbols, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::978d919ce963255c1f32eccd2d34b89bTest
https://doi.org/10.3109/13816810.2014.886269Test

المؤلفون: Peggy L. Peissig, Catherine A. McCarty, Bahram Namjou-Khales, Eric B. Larson, Todd Lingren, Jennifer A. Pacheco, Patrick M. A. Sleiman, David R. Crosslin, Murray H. Brilliant, Marc S. Williams, John J. Connolly, Iftikhar J. Kullo, Gail P. Jarvik, Agnes S. Sundaresan, Berta Almoguera, Hakon Hakonarson, David Carrell, John B. Harley, James G. Linneman, Lyam Vazquez, Frank D. Mentch, Erik B. Hysinger

المصدر: American journal of respiratory and critical care medicine. 195(4)

مصطلحات موضوعية: 0301 basic medicine, Pulmonary and Respiratory Medicine, Adult, Male, Allergy, Pathology, medicine.medical_specialty, Adolescent, Genome-wide association study, Critical Care and Intensive Care Medicine, White People, 03 medical and health sciences, 0302 clinical medicine, Meta-Analysis as Topic, medicine, Genetic predisposition, Prevalence, Data Mining, Electronic Health Records, Humans, Genetic Predisposition to Disease, Child, Asthma, Prostaglandin-E Synthases, African american, business.industry, Medical record, medicine.disease, Predictive value, Genetic architecture, United States, Black or African American, 030104 developmental biology, Phenotype, 030228 respiratory system, Child, Preschool, Airway Remodeling, Female, business, Algorithms, Demography, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d1d533bd5b94d75c42a427f9880dc7fTest
https://pubmed.ncbi.nlm.nih.gov/28199158Test

المؤلفون: Giulia Giannuzzi, Cuiping Hou, Ferdinando Palmieri, Cecilia E. Kim, Yiran Guo, Emily Place, Xiaowu Gai, Marni J. Falk, Lifeng Tian, Lyam Vazquez, Nada Abdel-Magid, Hui Jiang, Elizabeth M. McCormick, Hakon Hakonarson, Francesco M. Lasorsa, Jinlong Liang, Rosetta M. Chiavacci, Frederick G. Otieno, Frank D. Mentch, Dong Li, Eric D. Marsh, Xuanzhu Liu

المصدر: JIMD Reports ISBN: 9783662437476

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, AGC1 Deficiency, business.industry, Published Erratum, Abnormal myelination, MEDLINE, Infantile epilepsy, Data science, Human genetics, Article, Medicine, business, N-acetylaspartate

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ac55cd052cfc06201b8646fba1a8b57Test
https://europepmc.org/articles/PMC4213340Test/

المؤلفون: Brendan J. Keating, Patrick M. A. Sleiman, John J. Connolly, Jonathan P. Bradfield, Lyam Vazquez, Berta Almoguera, Hakon Hakonarson

المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 5 (2014)

مصطلحات موضوعية: lcsh:QH426-470, Population, DNA biobank, Electronic Medical Records, Single-nucleotide polymorphism, high-risk genotype, Biology, 03 medical and health sciences, Electronic Medical Record, 0302 clinical medicine, TPMT, Genetic variation, Genotype, Genetics, Original Research Article, education, Genotyping, Genetics (clinical), genotype imputation, 030304 developmental biology, pharmacogenetics, 0303 health sciences, education.field_of_study, Thiopurine methyltransferase, 3. Good health, lcsh:Genetics, 030220 oncology & carcinogenesis, biology.protein, Molecular Medicine, Pharmacogenetics, Imputation (genetics)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3d628dc24304b8d4b6b0eee4404d4c9Test

المؤلفون: Cecilia E. Kim, Xiaowu Gai, Ferdinando Palmieri, Cuiping Hou, Lyam Vazquez, Eric D. Marsh, Rosetta M. Chiavacci, Nada Abdel-Magid, Jinlong Liang, Frederick G. Otieno, Marni J. Falk, Giulia Giannuzzi, Xuanzhu Liu, Guo Yiran, Hakon Hakonarson, Elizabeth M. McCormick, Francesco M. Lasorsa, Hui Jiang, Dong Li, Frank D. Mentch, Emily Place, Lifeng Tian

المصدر: JIMD Reports ISBN: 9783662437476

مصطلحات موضوعية: Cerebral atrophy, AGC1 Deficiency, Genetic heterogeneity, medicine.medical_treatment, Mitochondrial disease, Basal ganglia, Abnormal myelination, medicine, Biology, medicine.disease, Bioinformatics, Exome sequencing, Ketogenic diet

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5abe793afbc0bccd186ef020d40587b8Test
https://doi.org/10.1007/8904_2013_287Test

المؤلفون: Yiran Guo, Prokudin, Ivan, Yu, Cong, Jinlong Liang, Xie, Yi, Lifeng Tian, Fengxiang Wang, Keating, Brendan, Hakon Hakonarson, Wang, Jun, Jamieson, Robyn V., Maree Flaherty, Crofts, Stephanie, Snyder, James, Donaldson, Craig, Abdel-Magid, Nada, Lyam Vazquez

مصطلحات موضوعية: eye diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c06428b32d5b0f6dfe9ea37c87c2e1cTest