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1. Stars in our eyes
: the star phenomenon in the contemporary era
by Ndalianis, Angela, 1960 and Henry, Charlotte, 1970
2002, ISBN 9780275974800, xvii, 185
Celebrities | Motion picture actors and actresses
Book
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2. Full Text Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
by Amendola, Laura M and Jarvik, Gail P and Leo, Michael C and McLaughlin, Heather M and Akkari, Yassmine and Amaral, Michelle D and Berg, Jonathan S and Biswas, Sawona and Bowling, Kevin M and Conlin, Laura K and Cooper, Greg M and Dorschner, Michael O and Dulik, Matthew C and Ghazani, Arezou A and Ghosh, Rajarshi and Green, Robert C and Hart, Ragan and Horton, Carrie and Johnston, Jennifer J and Lebo, Matthew S and Milosavljevic, Aleksandar and Ou, Jeffrey and Pak, Christine M and Patel, Ronak Y and Punj, Sumit and Richards, Carolyn Sue and Salama, Joseph and Strande, Natasha T and Yang, Yaping and Plon, Sharon E and Biesecker, Leslie G and Rehm, Heidi L
The American Journal of Human Genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1067 - 1076
Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic evidence that laboratories consider. Deciding how to weigh each... 
TESTS | GENE | SPASTIC PARAPLEGIA | RECOMMENDATIONS | MUTATION | GENETICS & HEREDITY | PHENOTYPE | STANDARDS | SPG7 | Laboratories - standards | Data Interpretation, Statistical | Guidelines as Topic | Evidence-Based Practice | Genetic Testing - standards | United States | Humans | Incidental Findings | Sequence Analysis, DNA - standards | Mutation - genetics | Exome - genetics | Biomedical Research | Genetic Variation - genetics | Software | Genome, Human | Genomics - methods | High-Throughput Nucleotide Sequencing - methods | Physiological aspects | Genetic research | Nucleotide sequencing | Methods | Mitogen-activated protein kinases | DNA sequencing | Comparative analysis | Genes | Genomics | Classification | Index Medicus
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3. Full Text Merger-driven fueling of active galactic nuclei: Six dual and of AGNs discovered with Chandra and Hubble Space Telescope observations
by Comerford, Julia M and Pooley, David and Barrows, R. Scott and Greene, Jenny E and Zakamska, Nadia L and Madejski, Greg M and Cooper, Michael C and SLAC National Accelerator Lab., Menlo Park, CA (United States)
The Astrophysical Journal (Online), ISSN 1538-4357, 06/2015, Volume 806, Issue 2
Dual active galactic nuclei (AGNs) and offset AGNs are kpc-scale separation supermassive black holes pairs created during galaxy mergers, where both or one of... 
ASTRO | galaxies: active | galaxies: interactions | ASTRONOMY AND ASTROPHYSICS | astrophysics | GRQC | galaxies: nuclei
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4. Full Text Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
by Tom Walsh and Jon M. McClellan and Shane E. McCarthy and Anjené M. Addington and Sarah B. Pierce and Greg M. Cooper and Alex S. Nord and Mary Kusenda and Dheeraj Malhotra and Abhishek Bhandari and Sunday M. Stray and Caitlin F. Rippey and Patricia Roccanova and Vlad Makarov and B. Lakshmi and Robert L. Findling and Linmarie Sikich and Thomas Stromberg and Barry Merriman and Nitin Gogtay and Philip Butler and Kristen Eckstrand and Laila Noory and Peter Gochman and Robert Long and Zugen Chen and Sean Davis and Carl Baker and Evan E. Eichler and Paul S. Meltzer and Stanley F. Nelson and Andrew B. Singleton and Ming K. Lee and Judith L. Rapoport and Mary-Claire King and Jonathan Sebat
Science, ISSN 0036-8075, 4/2008, Volume 320, Issue 5875, pp. 539 - 543
Schizophrenia is a devastating neurodevelopmental disorder whose genetic influences remain elusive. We hypothesize that individually rare structural variants... 
Autistic disorder | Genes | Genomics | DNA | Medical genetics | Schizophrenia | Amino acids | Reports | Genetic mutation | Chromosomes | Diseases | NEURONAL MIGRATION | NEUREGULIN | NMDA RECEPTOR | GLUTAMATE | NEUROTRANSMITTERS | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY | DIFFERENTIATION | CHILDHOOD-ONSET SCHIZOPHRENIA | EXPRESSION | COMMON DISEASE | Gene Duplication | Receptor, Epidermal Growth Factor - genetics | Oligonucleotide Array Sequence Analysis | Excitatory Amino Acid Transporter 1 - chemistry | Humans | Excitatory Amino Acid Transporter 1 - physiology | Molecular Sequence Data | Male | Neurons - cytology | Brain - growth & development | Excitatory Amino Acid Transporter 1 - genetics | Case-Control Studies | Brain - metabolism | Schizophrenia - genetics | Schizophrenia - physiopathology | Gene Deletion | Neurons - physiology | Adult | Female | Receptor, Epidermal Growth Factor - physiology | Child | Amino Acid Sequence | Brain - cytology | Genetic Predisposition to Disease | Signal Transduction | Receptor, Epidermal Growth Factor - chemistry | Adolescent | Age of Onset | Polymorphism, Single Nucleotide | Mutation | Genome, Human | Receptor, ErbB-4 | Chromosome replication | Gene mutations | Neurobiology | Physiological aspects | Influence | Genetic aspects | Chromosome deletion | Genetics | Psychiatry | Index Medicus
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5. Full Text Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
by Green, Robert C and Green, Robert and Goddard, Katrina and Goddard, Katrina A.B and Jarvik, Gail P and Amendola, Laura M and Amendola, Laura and Appelbaum, Paul S and Berg, Jonathan S and Bernhardt, Barbara A and Biesecker, Barbara B 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 Chung, Wendy and Clayton, Ellen and Clayton, Ellen W and Cooper, Greg M and Cooper, Gregory M and East, Kelly and East, Kelly M and Evans, James P and Evans, Barbara and Fullerton, Stephanie M and Garraway, Levi A and Garrett, Jeremy R and Gray, David E and Gray, Stacy W and Henderson, Gail E and Hindorff, Lucia A and Holm, Ingrid A and Lewis, Michelle and Lewis, Katie and Lewis, Michelle Huckaby and Hutter, Carolyn M and Janne, Pasi A and Joffe, Steve and Joffe, Steven and Kaufman, Dave and Kaufman, David and Knoppers, Bartha and Knoppers, Bartha M and Koenig, Barbara A and Krantz, Ian 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, Will and Parsons, Donald W and Petersen, Gloria and Petersen, Gloria M and Plon, Sharon and Plon, Sharon E and Rehm, Heidi L and Roberts, Scott and Roberts, J. Scott and Robinson, Marguerite E and Robinson, Jill O and Robinson, Dan and Salama, Joseph and Salama, Joseph S and Scollon, Sarah and Sharp, Richard R and Shirts, Brian and Shirts, Brian H and Spinner, Nancy B and Tabor, Holly K and Tarczy-Hornoch, Peter and Veenstra, David L and Wagle, Nikhil and Weck, Karen and Wilfond, Ben and Wilfond, Benjamin S and Wilhelmsen, Kirk C and Wilhelmsen, Kirk and Wolf, Susan M and Wynn, Julia and Yu, Joon-Ho and Amaral, Michelle and Aronson, Samuel J and Arora, Shubhangi and Azzariti, Danielle R and Barsh, Greg S and Bebin, E.M and Brown, Brian L and Burt, Amber A and Byers, Peter H and Calikoglu, Muge G and ... and CSER Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1051 - 1066
Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and... 
RESEARCH PARTICIPANTS | ACMG RECOMMENDATIONS | PERCEIVED UTILITY | BEHAVIORAL ECONOMICS | GENETICS & HEREDITY | WHOLE-EXOME | INCIDENTAL-FINDINGS | MEDSEQ PROJECT | OBTAINING INFORMED-CONSENT | ELECTRONIC HEALTH RECORD | GENETIC RESEARCH FINDINGS | Evidence-Based Practice | United States | Humans | Clinical Trials as Topic | Cardiovascular Diseases - genetics | Exome - genetics | National Human Genome Research Institute (U.S.) | Polymorphism, Single Nucleotide - genetics | Adult | Biomedical Research | Population Groups | Software | Genome, Human | Genomics - methods | High-Throughput Nucleotide Sequencing - methods | Child | Genetic research | Nucleotide sequencing | Methods | DNA sequencing | Medical diagnosis | Electronic health records | Genomics | Genes | Children & youth | Index Medicus
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6. Full Text Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
by Shendure, Jay and Nickerson, Deborah A and McMillin, Margaret J and Ohta, Tohru and Hannibal, Mark C and Beck, Anita E and Bigham, Abigail W and Buckingham, Kati J and Rieder, Mark J and Gildersleeve, Heidi I and Niikawa, Norio and Cooper, Gregory M and Mefford, Heather C and Turner, Emily H and Tabor, Holly K and Smith, Joshua D and Bamshad, Michael J and Matsumoto, Naomichi and Lee, Choli and Yoshiura, Koh-ichiro and Ng, Sarah B
Nature Genetics, ISSN 1061-4036, 09/2010, Volume 42, Issue 9, pp. 790 - 793
We demonstrate the successful application of exome sequencing to discover a gene for an autosomal dominant disorder, Kabuki syndrome (OMIM%147920). We... 
MENTAL-RETARDATION | ABNORMALITIES | GROWTH | GENES | ALR | GENETICS & HEREDITY | CONSTRAINT | CAPTURE | EARS | Mutation - physiology | Genetic Predisposition to Disease | Validation Studies as Topic | Gene Frequency | Humans | Polymorphism, Single Nucleotide | DNA-Binding Proteins - genetics | Neoplasm Proteins - genetics | Sequence Analysis, DNA - methods | Abnormalities, Multiple - genetics | Syndrome | Genetic Linkage | Usage | Methyltransferases | Physiological aspects | Kabuki syndrome | Genetic aspects | Research | Nucleotide sequencing | Risk factors | Index Medicus
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7. Full Text Actionable exomic incidental findings in 6503 participants: Challenges of variant classification
by Amendola, Laura M and Dorschner, Michael O and Robertson, Peggy D and Salama, Joseph S and Hart, Ragan and Shirts, Brian H and Murray, Mitzi L and Tokita, Mari J and Gallego, Carlos J and Kim, Daniel Seung and Bennett, James T and Crosslin, David R and Ranchalis, Jane and Jones, Kelly L and Rosenthal, Elisabeth A and Jarvik, Ella R and Itsara, Andy and Turner, Emily H and Herman, Daniel S and Schleit, Jennifer and Burt, Amber and Jamal, Seema M and Abrudan, Jenica L and Johnson, Andrew D and Conlin, Laura K and Dulik, Matthew C and Santani, Avni and Metterville, Danielle R and Kelly, Melissa and Foreman, Ann Katherine M and Lee, Kristy and Taylor, Kent D and Guo, Xiuqing and Crooks, Kristy and Kiedrowski, Lesli A and Raffel, Leslie J and Gordon, Ora and Machini, Kalotina and Desnick, Robert J and Biesecker, Leslie G and Lubitz, Steven A and Mulchandani, Surabhi and Cooper, Greg M and Joffe, Steven and Richards, C. Sue and Yang, Yaoping and Rotter, Jerome I and Rich, Stephen S and O'Donnell, Christopher J and Berg, Jonathan S and Spinner, Nancy B and Evans, James P and Fullerton, Stephanie M and Leppig, Kathleen A and Bennett, Robin L and Bird, Thomas and Sybert, Virginia P and Grady, William M and Tabor, Holly K and Kim, Jerry H and Bamshad, Michael J and Wilfond, Benjamin and Motulsky, Arno G and Scott, C. Ronald and Pritchard, Colin C and Walsh, Tom D and Burke, Wylie and Raskind, Wendy H and Byers, Peter and Hisama, Fuki M and Rehm, Heidi and Nickerson, Debbie A and Jarvik, Gail P
Genome Research, ISSN 1088-9051, 03/2015, Volume 25, Issue 3, pp. 305 - 315
Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order to investigate the... 
INDIVIDUALS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | MESSENGER-RNA DECAY | MUTATIONS | IDENTIFICATION | INSIGHTS | European Continental Ancestry Group - genetics | Genetic Testing | Genetic Association Studies | Gene Frequency | Humans | Incidental Findings | Male | Exome | Phenotype | Genes, Dominant | Adult | Female | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | African Continental Ancestry Group - genetics | Genome, Human | Genomics - methods | Genetic variation | Population genetics | Research | Index Medicus
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8. Full Text Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
by Amendola, Laura M and Jarvik, Gail P and Leo, Michael C and McLaughlin, Heather M and Akkari, Yassmine and Amaral, Michelle D and Berg, Jonathan S and Biswas, Sawona and Bowling, Kevin M and Conlin, Laura K and Cooper, Greg M and Dorschner, Michael O and Dulik, Matthew C and Ghazani, Arezou A and Ghosh, Rajarshi and Green, Robert C and Hart, Ragan and Horton, Carrie and Johnston, Jennifer J and Lebo, Matthew S and Milosavljevic, Aleksandar and Ou, Jeffrey and Pak, Christine M and Patel, Ronak Y and Punj, Sumit and Richards, Carolyn Sue and Salama, Joseph and Strande, Natasha T and Yang, Yaping and Plon, Sharon E and Biesecker, Leslie G and Rehm, Heidi L
The American Journal of Human Genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, pp. 247 - 247
GENETICS & HEREDITY
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9. Full Text MERGER-DRIVEN FUELING OF ACTIVE GALACTIC NUCLEI: SIX DUAL AND OFFSET AGNs DISCOVERED WITH CHANDRA and HUBBLE SPACE TELESCOPE OBSERVATIONS
by Comerford, Julia M and Pooley, David and Barrows, R. Scott and Greene, Jenny E and Zakamska, Nadia L and Madejski, Greg M and Cooper, Michael C
Astrophysical Journal, ISSN 0004-637X, 06/2015, Volume 806, Issue 2, pp. 1 - 20
Dual active galactic nuclei (AGNs) and offset AGNs are kpc-scale separation supermassive black holes pairs created during galaxy mergers, where both or one of... 
galaxies: nuclei | galaxies: active | galaxies: interactions | MIDINFRARED SELECTION | NARROW-LINE REGION | MAJOR GALAXY MERGERS | ESO 243-49 | PEAKED EMISSION-LINES | SUPERMASSIVE BLACK-HOLE | O III | STAR-FORMATION RATES | ASTRONOMY & ASTROPHYSICS | X-RAY SOURCE | DIGITAL-SKY-SURVEY | Active galactic nuclei | Separation | Galaxies | Hubble Space Telescope | X-rays | Luminosity | Galaxy mergers & collisions | Offsets
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10. Full Text Eliciting preferences on secondary findings: The Preferences Instrument for Genomic Secondary Results
by Brothers, Kyle B and East, Kelly M and Kelley, Whitley V and Wright, M. Frances and Westbrook, Matthew J and Rich, Carla A and Bowling, Kevin M and Lose, Edward J and Bebin, E. Martina and Simmons, Shirley and Myers, John A and Barsh, Greg and Myers, Richard M and Cooper, Greg M and Pulley, Jill M and Rothstein, Mark A and Clayton, Ellen Wright
Genetics in Medicine, ISSN 1098-3600, 03/2017, Volume 19, Issue 3, pp. 337 - 344
Purpose: Eliciting and understanding patient and research participant preferences regarding return of secondary test results are key aspects of genomic... 
Incidental Findings | Genomic Secondary Results | Clinical Tools | Preferences | Whole Genome Sequencing | whole genome sequencing | RETURN | genomic secondary results | preferences | clinical tools | GENETICS & HEREDITY | incidental findings | MODEL | CLINICAL EXOME | Genome - ethics | Choice Behavior | Humans | Middle Aged | Focus Groups | Genome - genetics | Male | Genetic Testing - ethics | Comprehension | Health Knowledge, Attitudes, Practice | Genetic Testing - methods | Sequence Analysis, DNA | Genetic Testing - instrumentation | Genomics - ethics | Intellectual Disability - genetics | Parents - psychology | Adult | Female | Surveys and Questionnaires | Aged | Genomics - methods | Patient Preference - psychology | Index Medicus
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11. Full Text Erratum: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716300593) (10.1016/j.ajhg.2016.03.024))
by Amendola, Laura M and Jarvik, Gail P and Leo, Michael C and McLaughlin, Heather M and Akkari, Yassmine and Amaral, Michelle D and Berg, Jonathan S and Biswas, Sawona and Bowling, Kevin M and Conlin, Laura K and Cooper, Greg M and Dorschner, Michael O and Dulik, Matthew C and Ghazani, Arezou A and Ghosh, Rajarshi and Green, Robert C and Hart, Ragan and Horton, Carrie and Johnston, Jennifer J and Lebo, Matthew S and Milosavljevic, Aleksandar and Ou, Jeffrey and Pak, Christine M and Patel, Ronak Y and Punj, Sumit and Richards, Carolyn Sue and Salama, Joseph and Strande, Natasha T and Yang, Yaping and Plon, Sharon E and Biesecker, Leslie G and Rehm, Heidi L
American Journal of Human Genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, p. 247
(The American Journal of Human Genetics 98, 1067–1076; June 2, 2016) On page 1072 in the originally published version of this article, PS2 was a typo and... 
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12. Full Text Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
by Hart, M. Ragan and Biesecker, Barbara B and Blout, Carrie L and Christensen, Kurt D and Amendola, Laura M and Bergstrom, Katie L and Biswas, Sawona and Bowling, Kevin M and Brothers, Kyle B and Conlin, Laura K and Cooper, Greg M and Dulik, Matthew C and East, Kelly M and Everett, Jessica N and Finnila, Candice R and Ghazani, Arezou A and Gilmore, Marian J and Goddard, Katrina A. B and Jarvik, Gail P and Johnston, Jennifer J and Kauffman, Tia L and Kelley, Whitley V and Krier, Joel B and Lewis, Katie L and McGuire, Amy L and McMullen, Carmit and Ou, Jeffrey and Plon, Sharon E and Rehm, Heidi L and Richards, C. Sue and Romasko, Edward J and Miren Sagardia, Ane and Spinner, Nancy B and Thompson, Michelle L and Turbitt, Erin and Vassy, Jason L and Wilfond, Benjamin S and Veenstra, David L and Berg, Jonathan S and Green, Robert C and Biesecker, Leslie G and Hindorff, Lucia A
Genetics in Medicine, ISSN 1098-3600, 05/2019, Volume 21, Issue 5, pp. 1100 - 1110
Purpose: Clinical sequencing emerging in health care may result in secondary findings (SFs). Methods: Seventy-four of 6240 (1.2%) participants who underwent... 
genomic sequencing | health-care resource utilization | secondary findings | INCIDENTAL FINDINGS | EXOME | DESIGN | VARIANTS | RECOMMENDATIONS | GENETICS & HEREDITY | AMERICAN-COLLEGE | MEDICAL GENETICS | RANDOMIZED CONTROLLED-TRIAL | Consortia
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