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1. 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
American journal of human genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1067 - 1076
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | 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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2. Full Text Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (vol 98, pg 1067, 2016)
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, pp. 247 - 247
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology
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3. Full Text Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
by Harel, Tamar and Yoon, Wan Hee and Garone, Caterina and Gu, Shen and Coban-Akdemir, Zeynep and Eldomery, Mohammad K and Posey, Jennifer E and Jhangiani, Shalini N and Rosenfeld, Jill A and Cho, Megan T and Fox, Stephanie and Withers, Marjorie and Brooks, Stephanie M and Chiang, Theodore and Duraine, Lita and Erdin, Serkan and Yuan, Bo and Shao, Yunru and Moussallem, Elie and Lamperti, Costanza and Donati, Maria A and Smith, Joshua D and McLaughlin, Heather M and Eng, Christine M and Walkiewicz, Magdalena and Xia, Fan and Pippucci, Tommaso and Magini, Pamela and Seri, Marco and Zeviani, Massimo and Hirano, Michio and Hunter, Jill V and Srour, Myriam and Zanigni, Stefano and Lewis, Richard Alan and Muzny, Donna M and Lotze, Timothy E and Boerwinkle, Eric and Gibbs, Richard A and Hickey, Scott E and Graham, Brett H and Yang, Yaping and Buhas, Daniela and Martin, Donna M and Potocki, Lorraine and Graziano, Claudio and Bellen, Hugo J and Lupski, James R and Baylor-Hopkins Center for Mendelian Genomics and University of Washington Center for Mendelian Genomics and Univ Washington Ctr Mendelian
American journal of human genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 831 - 845
de novo variant | optic atrophy | neuropathy | CNV | cardiomyopathy | whole-exome sequencing | ATAD3A | dominant negative | mitochondrial dynamics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neurons - pathology | Humans | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Mitochondrial Proteins - genetics | Nervous System Diseases - genetics | Drosophila melanogaster - genetics | Muscles - pathology | Young Adult | Cardiomyopathies - genetics | Fibroblasts | Adult | Female | Nervous System Diseases - metabolism | Child | Infant, Newborn | Nervous System Diseases - pathology | Optic Atrophy - genetics | ATPases Associated with Diverse Cellular Activities | Muscle Hypotonia - genetics | Membrane Proteins - genetics | DNA Copy Number Variations - genetics | Mitochondria - metabolism | Mitochondria - pathology | Syndrome | Homozygote | Phenotype | Animals | Axons - pathology | Alleles | Polymorphism, Single Nucleotide - genetics | Adenosine Triphosphatases - genetics | Mutation | Allelomorphism | Nervous system diseases | Genetic aspects | Genetic variation | Health aspects | Adenosine triphosphatase | Proteins | Genotype & phenotype | Genetics | Mitochondria | Membranes | Neurological disorders | Index Medicus
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4. Full Text A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
by O'Daniel, Julianne M and McLaughlin, Heather M and Amendola, Laura M and Bale, Sherri J and Berg, Jonathan S and Bick, David and Bowling, Kevin M and Chao, Elizabeth C and Chung, Wendy K and Conlin, Laura K and Cooper, Gregory M and Das, Soma and Deignan, Joshua L and Dorschner, Michael O and Evans, James P and Ghazani, Arezou A and Goddard, Katrina A and Gornick, Michele and Farwell Hagman, Kelly D and Hambuch, Tina and Hegde, Madhuri and Hindorff, Lucia A and Holm, Ingrid A and Jarvik, Gail P and Knight Johnson, Amy and Mighion, Lindsey and Morra, Massimo and Plon, Sharon E and Punj, Sumit and Richards, C. Sue and Santani, Avni and Shirts, Brian H and Spinner, Nancy B and Tang, Sha and Weck, Karen E and Wolf, Susan M and Yang, Yaping and Rehm, Heidi L
Genetics in medicine, ISSN 1098-3600, 05/2017, Volume 19, Issue 5, pp. 575 - 582
genome sequencing | exome sequencing | laboratory standards | clinical reporting | genetic testing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Laboratories - standards | Genetic Testing - standards | Humans | Incidental Findings | Sequence Analysis, DNA - standards | Disclosure | Genetic Testing - methods | Information Dissemination | Sample Size | Laboratories - ethics | Research Report | Surveys and Questionnaires | Sequence Analysis, DNA - methods | Practice Guidelines as Topic | Index Medicus
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5. Full Text Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: Expanded panels offer limited additional sensitivity
by Alfares, Ahmed A and Kelly, Melissa A and McDermott, Gregory and Funke, Birgit H and Lebo, Matthew S and Baxter, Samantha B and Shen, Jun and McLaughlin, Heather M and Clark, Eugene H and Babb, Larry J and Cox, Stephanie W and Depalma, Steven R and Ho, Carolyn Y and Seidman, J.G and Seidman, Christine E and Rehm, Heidi L
Genetics in medicine, ISSN 1098-3600, 11/2015, Volume 17, Issue 11, pp. 880 - 888
genetics | Cardiomyopathy | genes | hypertrophy | genetics testing | Humans | Middle Aged | Child, Preschool | Male | Genetic Testing - methods | Genetic Variation | Young Adult | Sensitivity and Specificity | Aged, 80 and over | Adult | Female | Child | Cardiomyopathy, Hypertrophic - genetics | Genetic Predisposition to Disease | Costs and Cost Analysis | Oligonucleotide Array Sequence Analysis - standards | Genetic Testing - standards | Oligonucleotide Array Sequence Analysis - methods | Oligonucleotide Array Sequence Analysis - economics | Cardiomyopathy, Hypertrophic - diagnosis | Adolescent | Aged | High-Throughput Nucleotide Sequencing | Genetic Testing - economics | Cardiomyopathy, Hypertrophic - epidemiology | Index Medicus
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6. Full Text Population genetic inference from personal genome data: Impact of ancestry and admixture on human genomic variation
by Kidd, Jeffrey M and Gravel, Simon and Byrnes, Jake and Moreno-Estrada, Andres and Musharoff, Shaila and Bryc, Katarzyna and Degenhardt, Jeremiah D and Brisbin, Abra and Sheth, Vrunda and Chen, Rong and McLaughlin, Stephen F and Peckham, Heather E and Omberg, Larsson and Bormann Chung, Christina A and Stanley, Sarah and Pearlstein, Kevin and Levandowsky, Elizabeth and Acevedo-Acevedo, Suehelay and Auton, Adam and Keinan, Alon and Acuña-Alonzo, Victor and Barquera-Lozano, Rodrigo and Canizales-Quinteros, Samuel and Eng, Celeste and Burchard, Esteban G and Russell, Archie and Reynolds, Andy and Clark, Andrew G and Reese, Martin G and Lincoln, Stephen E and Butte, Atul J and De La Vega, Francisco M and Bustamante, Carlos D
American journal of human genetics, ISSN 0002-9297, 10/2012, Volume 91, Issue 4, pp. 660 - 671
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Haplotypes - genetics | Genetics, Population - methods | Humans | Heterozygote | Polymorphism, Single Nucleotide | Continental Population Groups - genetics | Genome, Human | Population - genetics | Europeans | Gene flow | Genetic variation | Genetic aspects | Research | Human population genetics | Diseases | African Americans | Genomes | Biological variation | Population genetics | Genes | Index Medicus
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7. Full Text A systematic approach to the reporting of medically relevant findings from whole genome sequencing
by McLaughlin, Heather M and Ceyhan-Birsoy, Ozge and Christensen, Kurt D and Kohane, Isaac S and Krier, Joel and Lane, William J and Lautenbach, Denise and Lebo, Matthew S and Machini, Kalotina and MacRae, Calum A and Azzariti, Danielle R and Murray, Michael F and Seidman, Christine E and Vassy, Jason L and Green, Robert C and Rehm, Heidi L and MedSeq Project and for The MedSeq Project
BMC medical genetics, ISSN 1471-2350, 12/2014, Volume 15, Issue 1, pp. 134 - 134
Clinical genome sequencing | MedSeq Project | Clinical report formatting | Incidental findings | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Pharmacogenetics | Genomics | Humans | Computational Biology | Information Dissemination - methods | Software | Genome, Human | Research Design | Sequence Analysis, DNA - methods | Randomized Controlled Trials as Topic | Hospitals | Womens health | Laboratories | Primary care | Index Medicus
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8. Full Text Rapid antimicrobial susceptibility testing and β-lactam-induced cell morphology changes of Gram-negative biological threat pathogens by optical screening
by McLaughlin, Heather P and Sue, David
BMC microbiology, ISSN 1471-2180, 12/2018, Volume 18, Issue 1, pp. 218 - 218
Antimicrobial susceptibility testing | Cell morphology | Gram-negative biothreat agents | Yersinia pestis - cytology | Burkholderia mallei - drug effects | Burkholderia mallei - physiology | Plague - microbiology | Humans | Ciprofloxacin - pharmacology | Imipenem - pharmacology | Burkholderia pseudomallei - drug effects | Burkholderia pseudomallei - growth & development | beta-Lactams - pharmacology | Yersinia pestis - drug effects | Glanders - microbiology | Yersinia pestis - growth & development | Burkholderia mallei - growth & development | Doxycycline - pharmacology | Time-Lapse Imaging - methods | Anti-Bacterial Agents - pharmacology | Burkholderia mallei - cytology | Burkholderia pseudomallei - physiology | Melioidosis - microbiology | Microbial Sensitivity Tests - methods | Yersinia pestis - physiology | Pandemics | Clavulanic acid | Gentamicin | Prophylaxis | Cytology | Trimethoprim | Amides | Outbreaks | War | Genomes | Antiinfectives and antibacterials | Trimethoprim-sulfamethoxazole | Sulfamethoxazole | Cephalosporins | Filaments | Strains (organisms) | Ceftazidime | Pathogens | Automation | Glanders | Incubation | β-Lactam antibiotics | Research & development--R&D | Mortality | Antimicrobial agents | Exposure | Real time | Spheroplasts | Melioidosis | Screening | Plague | Antibiotics | Morphology | Lysis | Doxycycline | Amoxicillin | Ciprofloxacin | Imipenem
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9. Full Text Mutations in HPV18 E1^E4 Impact Virus Capsid Assembly, Infectivity Competence, and Maturation
by Biryukov, Jennifer and Myers, Jocelyn C and McLaughlin-Drubin, Margaret E and Griffin, Heather M and Milici, Janice and Doorbar, John and Meyers, Craig
Viruses, ISSN 1999-4915, 12/2017, Volume 9, Issue 12, p. 385
Index Medicus | HPV18 | infection | viral titer | E1^E4 | virion maturation | Human Papillomavirus (HPV)
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10. Full Text Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2
by Gonzalez, Michael and McLaughlin, Heather and Houlden, Henry and Guo, Min and Yo-Tsen, Liu and Hadjivassilious, Marios and Speziani, Fiorella and Yang, Xiang-Lei and Antonellis, Anthony and Reilly, Mary M and Züchner, Stephan and Inherited Neuropathy Consortium IN and Inherited Neuropathy Consortium and Inherited Neuropathy Consortium (INC)
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 11/2013, Volume 84, Issue 11, pp. 1247 - 1249
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Chromosomes, Human, X - genetics | Humans | Male | Penetrance | Sequence Analysis, DNA | Charcot-Marie-Tooth Disease - genetics | Exome - genetics | Phenotype | Sex Chromosome Aberrations | DNA Mutational Analysis | Pedigree | Chromosome Aberrations | Aged, 80 and over | Genetic Variation - genetics | Methionine-tRNA Ligase - genetics | Charcot-Marie-Tooth Disease - diagnosis | Studies | Medical research | Biomedical research | Disease | Funding | Genes | Mutation | Age | University colleges | Index Medicus
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11. Full Text Sexual Harassment, Workplace Authority, and the Paradox of Power
by Heather McLaughlin and Christopher Uggen and Amy Blackstone
American sociological review, ISSN 0003-1224, 8/2012, Volume 77, Issue 4, pp. 625 - 647
Masculinity | Gender roles | Sexual harassment | Femininity | Men | Harassment | Behavior modeling | Employment discrimination | Workplaces | Modeling | inequality | power | gender | sexual harassment | Sociology | Social Sciences | Victims | Sex | Disproportionate Representation | Sexual Harassment | Vertical Organization | Feminism | Power Structure | Supervisors | Work Environment | Data Analysis | Predictor Variables | Social Isolation | Qualitative Research | Females | Longitudinal Studies | Sociology of work | Gender | Working population. Employment. Women's work | Sociology of work and sociology of organizations | Analysis | Women | Adolescent development | Working women | Dominance | Conformity | Studies | Williams, Christine | Social isolation | Work environment | Sex discrimination | Interviews | Feminist theory | Power
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