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1. Full Text A stable isotope dilution tandem mass spectrometry method of major kavalactones and its applications
by Wang, Yi and Eans, Shainnel O and Stacy, Heather M and Narayanapillai, Sreekanth C and Sharma, Abhisheak and Fujioka, Naomi and Haddad, Linda and McLaughlin, Jay and Avery, Bonnie A and Xing, Chengguo
PLoS ONE, ISSN 1932-6203, 05/2018, Volume 13, Issue 5, p. e0197940
Kava is regaining its popularity with detailed characterizations warranted. We developed an ultraperformance liquid chromatography high-resolution tandem mass... 
DRY EXTRACTS | 4-(METHYLNITROSAMINO)-1-(3-PYRIDYL)-1-BUTANONE-INDUCED LUNG TUMORIGENESIS | LABORATORY-ANIMALS | MULTIDISCIPLINARY SCIENCES | HERBAL DRUG | QUALITY-CONTROL | A/J MICE | CHROMATOGRAPHY | DIHYDROMETHYSTICIN | IONIZATION | KAVA PIPER-METHYSTICUM | Urinalysis | Radioisotope Dilution Technique | Humans | Mice, Inbred C57BL | Kava - chemistry | Male | Lactones - analysis | Pyrones - administration & dosage | Tissue Distribution | Animals | Lactones - pharmacokinetics | Lactones - administration & dosage | Pyrones - analysis | Mice | Pyrones - pharmacokinetics | Tandem Mass Spectrometry - methods | Usage | Spectrum analysis | Liquid chromatography | Spectroscopy | Nuclear magnetic resonance--NMR | Mass spectroscopy | Pharmacology | Chromatography | Studies | Body fluids | Chemistry | Dilution | Stable isotopes | Scientific imaging | Plasmas | Laboratory animals | Pharmacokinetics | Mass spectrometry | Drug dosages | Pharmaceutical sciences | Methods | Cancer | NMR | Nuclear magnetic resonance
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2. 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
The most highly expressed protein during the productive phase of the human papillomavirus (HPV) life cycle is E1^E4. Its full role during infection remains to... 
HPV18 | infection | viral titer | E1^E4 | virion maturation | Human Papillomavirus (HPV)
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3. Full Text Erratum: A one-page summary report of genome sequencing for the healthy adult (Public Health Genomics (2015) 18 (123-129) DOI: 10.1159/000370102)
by McLaughlin, Heather M
Public Health Genomics, ISSN 1662-4246, 04/2015, Volume 18, Issue 3, p. 191
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4. 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
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5. Full Text A prospective study of statin use and mortality among 67,385 blacks and whites in the southeastern United States
by Lipworth, Loren and Fazio, Sergio and Kabagambe, Edmond K and Munro, Heather M and Nwazue, Victor C and Tarone, Robert E and McLaughlin, Joseph K and Blot, William J and Sampson, Uchechukwu K. A
Clinical Epidemiology, ISSN 1179-1349, 12/2013, Volume 6, Issue 1, pp. 15 - 25
Purpose: The primary objective of this study is to examine the race-specific associations between statin use and overall mortality, as well as cardiovascular... 
Disparities | Hypercholesteromia | Underdiagnosis | Undertreatment | Mortality | Statins | disparities | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | statins | hypercholesteromia | undertreatment | mortality | underdiagnosis | Hypercholesterolemia | United States | Research | Blacks | Drug therapy | Health aspects
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6. 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
Purpose: Hypertrophic cardiomyopathy (HCM) is caused primarily by pathogenic variants in genes encoding sarcomere proteins. We report genetic testing results... 
genetics | Cardiomyopathy | genes | hypertrophy | genetics testing | POPULATION | VARIANTS | COST-EFFECTIVENESS MODEL | PHENOTYPE | ADULTS | FABRY-DISEASE | PREVALENCE | HEART | GENETICS & HEREDITY | MUTATIONS | cardiomyopathy | 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
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7. 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 Univ Washington Ctr Mendelian and Baylor-Hopkins Center for Mendelian Genomics and University of Washington Center for Mendelian Genomics
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 831 - 845
ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid... 
de novo variant | optic atrophy | neuropathy | CNV | cardiomyopathy | whole-exome sequencing | ATAD3A | dominant negative | mitochondrial dynamics | LOSS-OF-FUNCTION | DROSOPHILA-MELANOGASTER | GENOMIC DISORDERS | DOMAIN-CONTAINING 3A | GENETICS & HEREDITY | DEVELOPMENTAL DELAY | TRANSMISSION GENETICS | MOLECULAR FINDINGS | OPTIC ATROPHY | CPG DINUCLEOTIDES | COPY-NUMBER VARIATION | 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
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8. Full Text Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
by Otto, E.A and Hurd, T.W and Airik, R and Chaki, M and Zhou, W and Stoetzel, C and Patil, S.B and Levy, S and Ghosh, A.K and Murga-Zamalloa, C.A and Reeuwijk, J. van and Letteboer, S.J.F and Sang, L and Giles, R.H and Liu, Q and Coene, K.L.M and Estrada-Cuzcano, A and Collin, R.W.J and McLaughlin, H.M and Held, S and Kasanuki, J.M and Ramaswami, G and Conte, J and Lopez, I and Washburn, J and Macdonald, J and Hu, J and Yamashita, Y and Maher, E.R and Guay-Woodford, L.M and Neumann, H.P and Obermuller, N and Koenekoop, R.K and Bergmann, C and Bei, X and Lewis, R.A and Katsanis, N and Lopes, V and Williams, D.S and Lyons, R.H and Dang, C.V and Brito, D.A and Dias, M.B and Zhang, X and Cavalcoli, J.D and Nurnberg, G and Nurnberg, P and Pierce, E.A and Jackson, P.K and Antignac, C and Saunier, S and Roepman, R and Dollfus, H and Khanna, H and Hildebrandt, F
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 10, pp. 840 - 850
Nephronophthisis-related ciliopathies (NPHP-RC) are recessive disorders that feature dysplasia or degeneration occurring preferentially in the kidney, retina... 
JOUBERT-SYNDROME | CILIARY | GENE | CYSTIC-DISEASE | INTERACTS | GENETICS & HEREDITY | NEPHRONOPHTHISIS | LINKAGE ANALYSIS | CENTROSOMAL PROTEIN | DOMAIN PROTEIN | DEGENERATION | Retinal Diseases - genetics | Humans | Molecular Sequence Data | Neoplasm Proteins - antagonists & inhibitors | Autoantigens - genetics | Case-Control Studies | Kidney Diseases - genetics | Gene Expression Regulation, Developmental | Retinal Diseases - pathology | Neoplasm Proteins - genetics | Cyclic AMP - metabolism | Fluorescent Antibody Technique, Indirect | Photoreceptor Cells, Vertebrate - ultrastructure | Genetic Association Studies | Kidney Diseases - pathology | RNA, Messenger - genetics | RNA, Small Interfering - pharmacology | Rats | Exons - genetics | Mutation - genetics | Reverse Transcriptase Polymerase Chain Reaction | Zebrafish - growth & development | Blotting, Western | Zebrafish - genetics | Centrosome - metabolism | Proteins - genetics | Homozygote | Two-Hybrid System Techniques | Animals | Proteins - metabolism | Family | Mice | Photoreceptor Cells, Vertebrate - metabolism | Subcellular Fractions | Gene mutations | Genetic aspects | Research | Kidney diseases | Health aspects | Retinal diseases | Risk factors | Studies | Genetics | Mutation | Genes | Cell cycle
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9. 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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10. Full Text COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
by Heeringa, Saskia F and Chernin, Gil and Chaki, Moumita and Zhou, Weibin and Sloan, Alexis J and Ji, Ziming and Xie, Letian X and Salviati, Leonardo and Hurd, Toby W and Vega-Warner, Virginia and Killen, Paul D and Raphael, Yehoash and Ashraf, Shazia and Ovunc, Bugsu and Schoeb, Dominik S and McLaughlin, Heather M and Airik, Rannar and Vlangos, Christopher N and Gbadegesin, Rasheed and Hinkes, Bernward and Saisawat, Pawaree and Trevisson, Eva and Doimo, Mara and Casarin, Alberto and Pertegato, Vanessa and Giorgi, Gianpietro and Prokisch, Holger and Rötig, Agnès and Nürnberg, Gudrun and Becker, Christian and Wang, Su and Ozaltin, Fatih and Topaloglu, Rezan and Bakkaloglu, Aysin and Bakkaloglu, Sevcan A and Müller, Dominik and Beissert, Antje and Mir, Sevgi and Berdeli, Afig and Özen, Seza and Zenker, Martin and Matejas, Verena and Santos-Ocaña, Carlos and Navas, Placido and Kusakabe, Takehiro and Kispert, Andreas and Akman, Sema and Soliman, Neveen A and Krick, Stefanie and Mundel, Peter and Reiser, Jochen and Nürnberg, Peter and Clarke, Catherine F and Wiggins, Roger C and Faul, Christian and Hildebrandt, Friedhelm
Journal of Clinical Investigation, ISSN 0021-9738, 05/2011, Volume 121, Issue 5, pp. 2013 - 2024
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some... 
MEDICINE, RESEARCH & EXPERIMENTAL | OXIDATIVE STRESS | GENE | COENZYME-Q BIOSYNTHESIS | DIPHOSPHATE SYNTHASE SUBUNIT-2 | NPHS2 | GLOMERULAR PROTEIN | UBIQUINONE BIOSYNTHESIS | COQ DEFICIENCY | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | SACCHAROMYCES-CEREVISIAE | Deafness | Gene mutations | Genetic aspects | Nephrotic syndrome | Research | Health aspects | Risk factors
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11. 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
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