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1. Full Text Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks
by Brnich, Sarah E and Rivera‐Muñoz, Edgar A and Berg, Jonathan S
Human mutation, ISSN 1059-7794, 11/2018, Volume 39, Issue 11, pp. 1531 - 1541
ACMG/AMP guidelines | functional assay | VUS | Bayesian | variant interpretation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genomics | Analysis | Medical genetics | AMP | Therapeutic applications | Bayesian analysis | Benign | ACMG | AMP guidelines
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2. Full Text ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
by Rivera‐Muñoz, Edgar A and Milko, Laura V and Harrison, Steven M and Azzariti, Danielle R and Kurtz, C. Lisa and Lee, Kristy and Mester, Jessica L and Weaver, Meredith A and Currey, Erin and Craigen, William and Eng, Charis and Funke, Birgit and Hegde, Madhuri and Hershberger, Ray E and Mao, Rong and Steiner, Robert D and Vincent, Lisa M and Martin, Christa L and Plon, Sharon E and Ramos, Erin and Rehm, Heidi L and Watson, Michael and Berg, Jonathan S
Human mutation, ISSN 1059-7794, 11/2018, Volume 39, Issue 11, pp. 1614 - 1622
ACMG/AMP guidelines | expert panels | ClinGen | biocuration | ClinVar | sequence variant interpretation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Societies, Medical | United States | Genomics | Humans | Computational Biology | Databases, Genetic | Genetic Variation - genetics | Software | Mutation - genetics | Genome, Human - genetics | Genetic research | Genes | Pathogenicity | Interfaces | Data processing | Genomes | Nucleotide sequence | AMP | Expert Panels | ACMG | AMP guidelines
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3. Full Text Transparent Electrodes: A Review of the Use of Carbon-Based Nanomaterials
by López-Naranjo, Edgar J and González-Ortiz, Luis J and Apátiga, Luis M and Rivera-Muñoz, Eric M and Manzano-Ramírez, Alejandro
Journal of nanomaterials, ISSN 1687-4110, 9/2016, Volume 2016, pp. 1 - 12
Science & Technology - Other Topics | Materials Science | Nanoscience & Nanotechnology | Technology | Materials Science, Multidisciplinary | Science & Technology | Electrodes | Composite materials | Quality | Graphite | Nanomaterials | Carbon | Chemical vapor deposition | Methods | Solar cells | Photovoltaic cells | Production methods | Indium tin oxide | Markets | Optoelectronic devices
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4. Full Text Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future
by Milko, Laura V and Funke, Birgit H and Hershberger, Ray E and Azzariti, Danielle R and Lee, Kristy and Riggs, Erin R and Rivera-Munoz, Edgar A and Weaver, Meredith A and Niehaus, Annie and Currey, Erin L and Craigen, William J and Mao, Rong and Offit, Kenneth and Steiner, Robert D and Martin, Christa L and Rehm, Heidi L and Watson, Michael S and Ramos, Erin M and Plon, Sharon E and Berg, Jonathan S
Genetics in medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 987 - 993
genomic medicine | ClinGen | expert curation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Databases, Genetic | Genetics, Medical - trends | Genetic Variation - genetics | Genomics - trends | Genome, Human - genetics | Information Dissemination | Precision Medicine | Working groups | Genomes | Index Medicus | Expert Curation | Genomic Medicine
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5. Full Text Morphology Effect of Silver Nanostructures on the Performance of a P3HT:Graphene:AgNs-Based Active Layer Obtained via Dip Coating
by Gómez-Acosta, Alí and Barquera-Bibiano, Zaira and López-Naranjo, Edgar J and Reyes-Araiza, José Luis and Torres-Delgado, Gerardo and Barbosa-García, Oracio and Rivera-Muñoz, Eric M and Velázquez-Castillo, Rodrigo and Manzano-Ramírez, Alejandro
Journal of nanomaterials, ISSN 1687-4110, 9/2016, Volume 2016, pp. 1 - 5
Science & Technology - Other Topics | Materials Science | Nanoscience & Nanotechnology | Technology | Materials Science, Multidisciplinary | Science & Technology | Screen printing | Polymer blends | Morphology | Graphite | Trapping | Electrical properties | Efficiency | Graphene | Nanomaterials | Nanostructure | Devices | Immersion coating
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6. Full Text Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
by Kelly, Melissa A and Caleshu, Colleen and Morales, Ana and Buchan, Jillian and Wolf, Zena and Harrison, Steven M and Cook, Stuart and Dillon, Mitchell W and Garcia, John and Haverfield, Eden and Jongbloed, Jan D. H and Macaya, Daniela and Manrai, Arjun and Orland, Kate and Richard, Gabriele and Spoonamore, Katherine and Thomas, Matthew and Thomson, Kate and Vincent, Lisa M and Walsh, Roddy and Watkins, Hugh and Whiffin, Nicola and Ingles, Jodie and van Tintelen, J. Peter and Semsarian, Christopher and Ware, James S and Hershberger, Ray and Funke, Birgit and ClinGen Cardiovasc Clinical Domain and for theClinGen Cardiovascular Clinical Domain Working Group
Genetics in medicine, ISSN 1098-3600, 2018, Volume 20, Issue 3, pp. 351 - 359
Myosin heavy chain 7 | HCM | Cardiomyopathy | ClinGen | Variant interpretation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Laboratories | Genes | Classification | Index Medicus | Special | myosin heavy chain 7 | cardiomyopathy | variant interpretation
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7. Full Text Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients with Cardiovascular Disease
by Haskell, Gloria T and Jensen, Brian C and Samsa, Leigh Ann and Marchuk, Daniel and Huang, Wei and Skrzynia, Cecile and Tilley, Christian and Seifert, Bryce A and Rivera-Muñoz, Edgar A and Koller, Beverly and Wilhelmsen, Kirk C and Liu, Jiandong and Alhosaini, Hassan and Weck, Karen E and Evans, James P and Berg, Jonathan S
Circulation. Cardiovascular genetics, ISSN 1942-325X, 06/2017, Volume 10, Issue 3, pp. e001443 - e001443
genetic variation | Animals | edema | Cardiomyopathy | dilated cardiomyopathy | RNA Splice Sites - genetics | Nuclear Pore Complex Proteins - metabolism | Humans | Embryo, Nonmammalian - metabolism | Databases, Genetic | Nuclear Proteins - metabolism | Zebrafish | Lamin Type A - metabolism | Mutation, Missense | Cardiovascular Diseases - pathology | Cardiovascular Diseases - genetics | Sequence Analysis, DNA | Whole Exome Sequencing | Genetic Variation | Nerve Tissue Proteins - metabolism | Nuclear Pore Complex Proteins - genetics | Morpholinos - metabolism | Phenotype | RNA Interference | Heterozygote | Nuclear Pore Complex Proteins - antagonists & inhibitors | Cardiovascular Diseases - diagnosis | Edema | Lymphoblasts | Dilated cardiomyopathy | Envelope gene | Cardiovascular disease | Genetic diversity | Gene expression | Localization | Embryos | Heart diseases | Coronary artery disease | Index Medicus | atrial fibrillation arrhythmia | cardiomyopathy | gene mutation | nucleoporin
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8. Full Text Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
Genetics in medicine, ISSN 1098-3600, 03/2018, Volume 20, Issue 3, pp. 351 - 359
ClinGen | GUIDELINES | SEQUENCE VARIANTS | DILATED CARDIOMYOPATHY | LEFT-VENTRICULAR NONCOMPACTION | GENETIC-VARIATION | HCM | HYPERTROPHIC CARDIOMYOPATHY | variant interpretation | LABORATORIES | myosin heavy chain 7 | MUTATIONS | cardiomyopathy
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9. Full Text Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
by Green, Robert C and Goddard, Katrina A.B and Jarvik, Gail P and Amendola, Laura M and Appelbaum, Paul S and Berg, Jonathan S and Bernhardt, Barbara A and Biesecker, Leslie G and Biswas, Sawona and Blout, Carrie L and Bowling, Kevin M and Brothers, Kyle B and Burke, Wylie and Caga-anan, Charlisse F and Chinnaiyan, Arul M and Chung, Wendy K and Clayton, Ellen W and Cooper, Gregory M and East, Kelly and Evans, James P and Fullerton, Stephanie M and Garraway, Levi A and Garrett, Jeremy R and Gray, Stacy W and Henderson, Gail E and Hindorff, Lucia A and Holm, Ingrid A and Lewis, Michelle Huckaby and Hutter, Carolyn M and Janne, Pasi A and Joffe, Steven and Kaufman, David and Knoppers, Bartha M and Koenig, Barbara A and Krantz, Ian D and Manolio, Teri A and McCullough, Laurence and McEwen, Jean and McGuire, Amy and Muzny, Donna and Myers, Richard M and Nickerson, Deborah A and Ou, Jeffrey and Parsons, Donald W and Petersen, Gloria M and Plon, Sharon E and Rehm, Heidi L and Roberts, J. Scott and Robinson, Dan and Salama, Joseph S and Scollon, Sarah and Sharp, Richard R and Shirts, Brian and Spinner, Nancy B and Tabor, Holly K and Tarczy-Hornoch, Peter and Veenstra, David L and Wagle, Nikhil and Weck, Karen and Wilfond, Benjamin S and Wilhelmsen, Kirk and Wolf, Susan M and Wynn, Julia and Yu, Joon-Ho and Amaral, Michelle and Amendola, Laura and Aronson, Samuel J and Arora, Shubhangi and Azzariti, Danielle R and Barsh, Greg S and Bebin, E.M and Biesecker, Barbara B and Brown, Brian L and Burt, Amber A and Byers, Peter H and Calikoglu, Muge G and Carlson, Sara J and Chahin, Nizar and Christensen, Kurt D and Chung, Wendy and Cirino, Allison L and Clayton, Ellen and Conlin, Laura K and Cooper, Greg M and Crosslin, David R and Davis, James V and Davis, Kelly and Deardorff, Matthew A and Devkota, Batsal and De Vries, Raymond and Diamond, Pamela and Dorschner, Michael O and Dugan, Noreen P and Dukhovny, Dmitry and Dulik, Matthew C and East, Kelly M and Rivera-Munoz, Edgar A and Evans, Barbara and Everett, Jessica and Exe, Nicole and ... and the CSER Consortium
American journal of human genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, pp. 246 - 246
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10. Full Text Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))
by Green, Robert C and Goddard, Katrina A.B and Jarvik, Gail P and Amendola, Laura M and Appelbaum, Paul S and Berg, Jonathan S and Bernhardt, Barbara A and Biesecker, Leslie G and Biswas, Sawona and Blout, Carrie L and Bowling, Kevin M and Brothers, Kyle B and Burke, Wylie and Caga-anan, Charlisse F and Chinnaiyan, Arul M and Chung, Wendy K and Clayton, Ellen W and Cooper, Gregory M and East, Kelly and Evans, James P and Fullerton, Stephanie M and Garraway, Levi A and Garrett, Jeremy R and Gray, Stacy W and Henderson, Gail E and Hindorff, Lucia A and Holm, Ingrid A and Lewis, Michelle Huckaby and Hutter, Carolyn M and Janne, Pasi A and Joffe, Steven and Kaufman, David and Knoppers, Bartha M and Koenig, Barbara A and Krantz, Ian D and Manolio, Teri A and McCullough, Laurence and McEwen, Jean and McGuire, Amy and Muzny, Donna and Myers, Richard M and Nickerson, Deborah A and Ou, Jeffrey and Parsons, Donald W and Petersen, Gloria M and Plon, Sharon E and Rehm, Heidi L and Roberts, J. Scott and Robinson, Dan and Salama, Joseph S and Scollon, Sarah and Sharp, Richard R and Shirts, Brian and Spinner, Nancy B and Tabor, Holly K and Tarczy-Hornoch, Peter and Veenstra, David L and Wagle, Nikhil and Weck, Karen and Wilfond, Benjamin S and Wilhelmsen, Kirk and Wolf, Susan M and Wynn, Julia and Yu, Joon-Ho and Amaral, Michelle and Amendola, Laura and Appelbaum, Paul S and Aronson, Samuel J and Arora, Shubhangi and Azzariti, Danielle R and Barsh, Greg S and Bebin, E.M and Biesecker, Barbara B and Biesecker, Leslie G and Biswas, Sawona and Blout, Carrie L and Bowling, Kevin M and Brothers, Kyle B and Brown, Brian L and Burt, Amber A and Byers, Peter H and Caga-anan, Charlisse F and Calikoglu, Muge G and Carlson, Sara J and Chahin, Nizar and Chinnaiyan, Arul M and Christensen, Kurt D and Chung, Wendy and Cirino, Allison L and Clayton, Ellen and Conlin, Laura K and Cooper, Greg M and Crosslin, David R and Davis, James V and Davis, Kelly and Deardorff, Matthew A and Devkota, Batsal and De Vries, Raymond and Diamond, Pamela and Dorschner, Michael O and ...
American journal of human genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, p. 246
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11. Full Text Fungal screening on olive oil for extracellular triacylglycerol lipases: Selection of a Trichoderma harzianum strain and genome wide search for the genes
by Canseco-Pérez, Miguel Angel and Castillo-Avila, Genny Margarita and Chi-Manzanero, Bartolomé and Islas-Flores, Ignacio and Apolinar-Hernández, Max M and Rivera-Muñoz, Gerardo and Gamboa-Angulo, Marcela and Sanchez-Teyer, Felipe and Couoh-Uicab, Yeny and Canto-Canché, Blondy
Genes, ISSN 2073-4425, 02/2018, Volume 9, Issue 2, p. 62
Triacylglycerol lipases | Enzymes | Protein bioinformatic analyses | Olive oil induced lipases | True lipases | Lipases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fungi | Polymerase chain reaction | Proteins | Rhodamine | Plantations | Reverse transcription | Homology | Genomes | Olive oil | Lipase | Protein families | Carbon sources | enzymes | true lipases | protein bioinformatic analyses | triacylglycerol lipases | olive oil induced lipases | lipases
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12. Full Text Desempeño académico de los ayudantes/preparadores en carreras de ingeniería
by Rodrigo Herrera, Dr and Felipe Muñoz- La Rivera, Lic
Ágora de Heterodoxias, 05/2018, Volume 3, Issue 1, pp. 118 - 132
ayudantes/preparadores | presentación oral | estudiantes de ingeniería | desempeño académico | pirámide de aprendizaje
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13. Full Text Characterization and setting protocol for a simultaneous X-ray Diffraction - X-ray Fluorescence system (XRD/XRF) for in situ analysis
by Aguilar, Valentina and Ruvalcaba-Sil, José Luis and Bucio, Lauro and Rivera-Muñoz, Eric M
European physical journal plus, ISSN 2190-5444, 6/2019, Volume 134, Issue 6, pp. 1 - 14
Condensed Matter Physics | Atomic, Molecular, Optical and Plasma Physics | Applied and Technical Physics | Theoretical, Mathematical and Computational Physics | Complex Systems | Physics | Physics, Multidisciplinary | Physical Sciences | Science & Technology | Reference materials | Position sensitive | X ray fluorescence analysis | X-ray diffraction | Reliability analysis | Portable equipment | Standards
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14. Full Text Comparison of the thermo‐mechanical properties of chemically synthesized PMMA and PTEGDMA polymer
by Velázquez‐Castillo, R and Galván‐Ruiz, M and Rivera‐Muñoz, E.M
Journal of applied polymer science, ISSN 0021-8995, 07/2010, Volume 117, Issue 2, pp. 1234 - 1243
phase separation | microstructure | thermal properties | polymer blends | mechanical properties | Thermal properties | Mechanical properties | Polymer blends | Microstructure | Phase separation | Polymer Science | Physical Sciences | Science & Technology | Applied sciences | Organic polymers | Copolymerization | Physicochemistry of polymers | Preparation, kinetics, thermodynamics, mechanism and catalysts | Exact sciences and technology | Dimethyl | Differential scanning calorimetry | Synthesis | TEGDMA | Polymerization | Polymethyl methacrylates | Syrup | Dissolution | Reproduction
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