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51. Viral genomes reveal patterns of the SARS-CoV-2 outbreak in Washington State

Author

Müller, Nicola F., primary, Wagner, Cassia, additional, Frazar, Chris D., additional, Roychoudhury, Pavitra, additional, Lee, Jover, additional, Moncla, Louise H., additional, Pelle, Benjamin, additional, Richardson, Matthew, additional, Ryke, Erica, additional, Xie, Hong, additional, Shrestha, Lasata, additional, Addetia, Amin, additional, Rachleff, Victoria M., additional, Lieberman, Nicole A. P., additional, Huang, Meei-Li, additional, Gautom, Romesh, additional, Melly, Geoff, additional, Hiatt, Brian, additional, Dykema, Philip, additional, Adler, Amanda, additional, Brandstetter, Elisabeth, additional, Han, Peter D., additional, Fay, Kairsten, additional, Ilcisin, Misja, additional, Lacombe, Kirsten, additional, Sibley, Thomas R., additional, Truong, Melissa, additional, Wolf, Caitlin R., additional, Boeckh, Michael, additional, Englund, Janet A., additional, Famulare, Michael, additional, Lutz, Barry R., additional, Rieder, Mark J., additional, Thompson, Matthew, additional, Duchin, Jeffrey S., additional, Starita, Lea M., additional, Chu, Helen Y., additional, Shendure, Jay, additional, Jerome, Keith R., additional, Lindquist, Scott, additional, Greninger, Alexander L., additional, Nickerson, Deborah A., additional, and Bedford, Trevor, additional

Published
2020
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52. Early Detection of Covid-19 through a Citywide Pandemic Surveillance Platform

Author

Chu, Helen Y., primary, Englund, Janet A., additional, Starita, Lea M., additional, Famulare, Michael, additional, Brandstetter, Elisabeth, additional, Nickerson, Deborah A., additional, Rieder, Mark J., additional, Adler, Amanda, additional, Lacombe, Kirsten, additional, Kim, Ashley E., additional, Graham, Chelsey, additional, Logue, Jennifer, additional, Wolf, Caitlin R., additional, Heimonen, Jessica, additional, McCulloch, Denise J., additional, Han, Peter D., additional, Sibley, Thomas R., additional, Lee, Jover, additional, Ilcisin, Misja, additional, Fay, Kairsten, additional, Burstein, Roy, additional, Martin, Beth, additional, Lockwood, Christina M., additional, Thompson, Matthew, additional, Lutz, Barry, additional, Jackson, Michael, additional, Hughes, James P., additional, Boeckh, Michael, additional, Shendure, Jay, additional, and Bedford, Trevor, additional

Published
2020
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53. Seattle Flu Study - Swab and Send: Study Protocol for At-Home Surveillance Methods to Estimate the Burden of Respiratory Pathogens on a City-Wide Scale

Author

Kim, Ashley E., primary, Brandstetter, Elisabeth, additional, Graham, Chelsey, additional, Heimonen, Jessica, additional, Osterbind, Audrey, additional, McCulloch, Denise J., additional, Han, Peter D., additional, Starita, Lea M., additional, Nickerson, Deborah A., additional, Van de Loo, Margaret M., additional, Mooney, Jennifer, additional, Rieder, Mark J., additional, Ilcisin, Misja, additional, Fay, Kairsten A., additional, Lee, Jover, additional, Sibley, Thomas R., additional, Bedford, Trevor, additional, Englund, Janet A., additional, Boeckh, Michael, additional, and Chu, Helen Y., additional

Published
2020
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54. Effects of weather-related social distancing on city-scale transmission of respiratory viruses

Author

Jackson, Michael L., primary, Hart, Gregory R., additional, McCulloch, Denise J., additional, Adler, Amanda, additional, Brandstetter, Elisabeth, additional, Fay, Kairsten, additional, Han, Peter, additional, Lacombe, Kirsten, additional, Lee, Jover, additional, Sibley, Thomas, additional, Nickerson, Deborah A., additional, Rieder, Mark J., additional, Starita, Lea, additional, Englund, Janet A., additional, Bedford, Trevor, additional, Chu, Helen, additional, and Famulare, Michael, additional

Published
2020
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57. Common Missense Variant in the Glucokinase Regulatory Protein Gene Is Associated With Increased Plasma Triglyceride and C-Reactive Protein but Lower Fasting Glucose Concentrations

Author

Orho-Melander, Marju, Melander, Olle, Guiducci, Candace, Perez-Martinez, Pablo, Corella, Dolores, Roos, Charlotta, Tewhey, Ryan, Rieder, Mark J., Hall, Jennifer, Abecasis, Goncalo, Tai, E. Shyong, Welch, Cullan, Arnett, Donna K., Lyssenko, Valeriya, Lindholm, Eero, Saxena, Richa, de Bakker, Paul I.W., Burtt, Noel, Voight, Benjamin F., Hirschhorn, Joel N., Tucker, Katherine L., Hedner, Thomas, Tuomi, Tiinamaija, Isomaa, Bo, Eriksson, Karl-Fredrik, Taskinen, Marja-Riitta, Wahlstrand, Björn, Hughes, Thomas E., Parnell, Laurence D., Lai, Chao-Qiang, Berglund, Göran, Peltonen, Leena, Vartiainen, Erkki, Jousilahti, Pekka, Havulinna, Aki S., Salomaa, Veikko, Nilsson, Peter, Groop, Leif, Altshuler, David, Ordovas, Jose M., and Kathiresan, Sekar

Published
2008

68. Genomic regions exhibiting positive selection identified from dense genotype data

Author

Carlson, Christopher S., Thomas Daryl J., Eberle, Michael A., Swanson, Johanna E., Livingston, Robert J., Rieder Mark J., and Nickerson Deborah A.

Subjects
Genetic polymorphisms -- Research, Genotype -- Research, Human genome -- Research, Health
Abstract

A significant correlation, was found, between the Tajima's D test statistic in full resequencing data and Tajima's D in a dense, genome-wide data set of genotyped polymorphisms for a set of 179 genes. Identification of the functional polymorphism (and/or halpotype) responsible for the selective sweeps within each CRTR may provide interesting insights into the strongest selective pressures experienced by the human genome.

Published
2005

69. Integrating host genomics with surveillance for invasive bacterial diseases

Author

Crawford, Dana C., Zimmer, Shanta M., Morin, Craig A., Messonnier, Nancy E., Lynfield, Ruth, Yi, Qian, Shephard, Cynthia, Wong, Michelle, Rieder, Mark J., Livingston, Robert J., Nickerson, Deborah A., Whitney, Cynthia G., and Lingappa, Jairam

Subjects
Security systems industry -- Genetic aspects, Genomics -- Genetic aspects, Bacterial infections -- Genetic aspects, Medical research -- Genetic aspects, Medicine, Experimental -- Genetic aspects
Abstract

We tested the feasibility of linking Active Bacterial Core surveillance, a prospective, population-based surveillance system for invasive bacterial disease, to a newborn dried blood spot (nDBS) repository. Using nDBS specimens, [...]

Published
2008

70. Effects of weather-related social distancing on city-scale transmission of respiratory viruses: a retrospective cohort study.

Author

Jackson, Michael L., Hart, Gregory R., McCulloch, Denise J., Adler, Amanda, Brandstetter, Elisabeth, Fay, Kairsten, Han, Peter, Lacombe, Kirsten, Lee, Jover, Sibley, Thomas R., Nickerson, Deborah A., Rieder, Mark J., Starita, Lea, Englund, Janet A., Bedford, Trevor, Chu, Helen, Famulare, Michael, on behalf of the Seattle Flu Study Investigators, Chu, Helen Y., and Boeckh, Michael

Subjects
SOCIAL distancing, DISEASE incidence, VIRUSES, COHORT analysis, TRAFFIC flow
Abstract

Background: Unusually high snowfall in western Washington State in February 2019 led to widespread school and workplace closures. We assessed the impact of social distancing caused by this extreme weather event on the transmission of respiratory viruses.Methods: Residual specimens from patients evaluated for acute respiratory illness at hospitals in the Seattle metropolitan area were screened for a panel of respiratory viruses. Transmission models were fit to each virus to estimate the magnitude reduction in transmission due to weather-related disruptions. Changes in contact rates and care-seeking were informed by data on local traffic volumes and hospital visits.Results: Disruption in contact patterns reduced effective contact rates during the intervention period by 16 to 95%, and cumulative disease incidence through the remainder of the season by 3 to 9%. Incidence reductions were greatest for viruses that were peaking when the disruption occurred and least for viruses in an early epidemic phase.Conclusion: High-intensity, short-duration social distancing measures may substantially reduce total incidence in a respiratory virus epidemic if implemented near the epidemic peak. For SARS-CoV-2, this suggests that, even when SARS-CoV-2 spread is out of control, implementing short-term disruptions can prevent COVID-19 deaths. [ABSTRACT FROM AUTHOR]

Published
2021
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72. TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome

Author

Boileau, Catherine, Guo, Dong-Chuan, Hanna, Nadine, Regalado, Ellen S., Detaint, Delphine, Gong, Limin, Varret, Mathilde, Prakash, Siddharth, Li, Alexander H., d’Indy, Hyacintha, Braverman, Alan C., Grandchamp, Bernard, Kwartler, Callie S., Gouya, Laurent, Santos-Cortez, Regie Lyn P., Abifadel, Marianne, Leal, Suzanne M., Muti, Christine, Shendure, Jay, Gross, Marie-Sylvie, Rieder, Mark J., Vahanian, Alec, Nickerson, Deborah A., Michel, Jean Baptiste, Jondeau, Guillaume, and Milewicz, Dianna M.

Subjects
cardiovascular system, Article
Abstract

A predisposition for thoracic aortic aneurysms leading to acute aortic dissections can be inherited in families in an autosomal dominant manner. Genome-wide linkage analysis of two large unrelated families with thoracic aortic disease, followed by whole exome sequencing of affected relatives, identified causative mutations in TGFB2. These mutations, a frameshift mutation in exon 6 and a nonsense mutation in exon 4, segregated with disease with a combined LOD score of 7.7. Sanger sequencing of 276 probands from families with inherited thoracic aortic disease identified two additional TGFB2 mutations. TGFB2 encodes the transforming growth factor beta-2 (TGF-β2) and the mutations are predicted to cause haploinsufficiency for TGFB2, but aortic tissue from cases paradoxically shows increased TGF-β2 expression and immunostaining. Thus, haploinsufficiency of TGFB2 predisposes to thoracic aortic disease, suggesting the initial pathway driving disease is decreased cellular TGF-β2 levels leading to a secondary increase in TGF-β2 production in the diseased aorta.

Published
2012

73. Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

Author

GO, Lung, Barnes, Kathleen C., Knowles, Michael R., Gibson, Ronald L., Nickerson, Debbie A., Bamshad, Michael J., Tabor, Holly K., Rieder, Mark J., Louie, Tin, Chong, Jessica X., Mathias, Rasika A., Emond, Mary J., and Emerson, Julia

Abstract

Discovery of rare or low frequency variants in exome or genome data that are associated with complex traits often will require use of very large sample sizes to achieve adequate statistical power. For a fixed sample size, sequencing of individuals sampled from the tails of a phenotype distribution (i.e., extreme phenotypes design) maximizes power and this approach was recently validated empirically with the discovery of variants in DCTN4 that influence the natural history of P. aeruginosa airway infection in persons with cystic fibrosis (CF; MIM219700). The increasing availability of large exome/genome sequence datasets that serve as proxies for population-based controls affords the opportunity to test an alternative, potentially more powerful and generalizable strategy, in which the frequency of rare variants in a single extreme phenotypic group is compared to a control group (i.e., extreme phenotype vs. control population design). As proof-of-principle, we applied this approach to search for variants associated with risk for age-of-onset of chronic P. aeruginosa airway infection among individuals with CF and identified variants in CAV2 and TMC6 that were significantly associated with group status. These results were validated using a large, prospective, longitudinal CF cohort and confirmed a significant association of a variant in CAV2 with increased age-of-onset of P. aeruginosa airway infection (hazard ratio = 0.48, 95% CI=[0.32, 0.88]) and variants in TMC6 with diminished age-of-onset of P. aeruginosa airway infection (HR = 5.4, 95% CI=[2.2, 13.5]) A strong interaction between CAV2 and TMC6 variants was observed (HR=12.1, 95% CI=[3.8, 39]) for children with the deleterious TMC6 variant and without the CAV2 protective variant. Neither gene showed a significant association using an extreme phenotypes design, and conditions for which the power of an extreme phenotype vs. control population design was greater than that for the extreme phenotypes design were explored.

Published
2015
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74. Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

Author

Guo, Dong-chuan, Regalado, Ellen, Casteel, Darren E., Santos-Cortez, Regie L., Gong, Limin, Kim, Jeong Joo, Dyack, Sarah, Horne, S. Gabrielle, Chang, Guijuan, Jondeau, Guillaume, Boileau, Catherine, Coselli, Joseph S., Li, Zhenyu, Leal, Suzanne M., Shendure, Jay, Rieder, Mark J., Bamshad, Michael J., Nickerson, Deborah A., Kim, Choel, and Milewicz, Dianna M.

Published
2013
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76. Pattern of sequence variation across 213 environmental response genes

Author

Livingston, Robert J., Niederhausern, Andrew von, Jegga, Anil G., Crawford, Dana C., Carlson, Christopher S., Rieder, Mark J., Gowrisankar, Sivakumar, Aronow, Bruce J., Weiss, Robert B., and Nickerson, Deborah A.

Subjects
Human genetics -- Research, Nucleotide sequence -- Research, Single nucleotide polymorphisms -- Research, Health
Abstract

The study of one of the most comprehensive sets of gene based SNPs (single nucleotide polymorphisms) assembled is presented. The study provides an important view of the structure of sequence diversity across the human genome and improves understanding of human genetic susceptibility to environmental exposure.

Published
2004

77. A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome

Author

Rieder, Mark J., Green, Glenn E., Park, Sarah S., Stamper, Brendan D., Gordon, Christopher T., Johnson, Jason M., Cunniff, Christopher M., Smith, Joshua D., Emery, Sarah B., Lyonnet, Stanislas, Amiel, Jeanne, Holder, Muriel, Heggie, Andrew A., Bamshad, Michael J., Nickerson, Deborah A., Cox, Timothy C., Hing, Anne V., Horst, Jeremy A., and Cunningham, Michael L.

Published
2012
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79. High-throughput pairing of T cell receptor α and β sequences

Author

Howie, Bryan, primary, Sherwood, Anna M., additional, Berkebile, Ashley D., additional, Berka, Jan, additional, Emerson, Ryan O., additional, Williamson, David W., additional, Kirsch, Ilan, additional, Vignali, Marissa, additional, Rieder, Mark J., additional, Carlson, Christopher S., additional, and Robins, Harlan S., additional

Published
2015
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80. Genetic loci associated with plasma concentration of LDL-C, HDL-C, triglycerides, ApoA1, and ApoB among 6382 Caucasian women in genome-wide analysis with replication

Author

Chasman, Daniel I., Paré, Guillaume, Zee, Robert Y. L., Parker, Alex N., Cook, Nancy R., Buring, Julie E., Kwiatkowski, David J., Rose, Lynda M., Smith, Joshua D., Williams, Paul T., Rieder, Mark J., Rotter, Jerome I., Nickerson, Deborah A., Krauss, Ronald M., Miletich, Joseph P., and Ridker, Paul M

Subjects
Apolipoprotein A-I, Genome, Human, Cholesterol, HDL, Reproducibility of Results, Cholesterol, LDL, Middle Aged, Lipid Metabolism, Lipids, Polymorphism, Single Nucleotide, Article, White People, Genetic Loci, Humans, Female, Genetic Predisposition to Disease, Triglycerides, Aged, Apolipoproteins B, Genome-Wide Association Study
Abstract

Genome-wide genetic association analysis represents an opportunity for a comprehensive survey of the genes governing lipid metabolism, potentially revealing new insights or even therapeutic strategies for cardiovascular disease and related metabolic disorders.We have performed large-scale, genome-wide genetic analysis among 6382 white women with replication in 2 cohorts of 970 additional white men and women for associations between common single-nucleotide polymorphisms and low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein(Apo) A1, and ApoB. Genome-wide associations (P5 x 10(-8)) were found at the PCSK9 gene, the APOB gene, theLPL gene, the APOA1-APOA5 locus, the LIPC gene, the CETP gene, the LDLR gene, and the APOE locus. In addition,genome-wide associations with triglycerides at the GCKR gene confirm and extend emerging links between glucose and lipid metabolism. Still other genome-wide associations at the 1p13.3 locus are consistent with emerging biological properties for a region of the genome, possibly related to the SORT1 gene. Below genome-wide significance, our study provides confirmatory evidence for associations at 5 novel loci with low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, or triglycerides reported recently in separate genome-wide association studies. The total proportion of variance explained by common variation at the genome-wide candidate loci ranges from 4.3% for triglycerides to 12.6% for ApoB.Genome-wide associations at the GCKR gene and near the SORT1 gene, as well as confirmatory associations at 5 additional novel loci, suggest emerging biological pathways for lipid metabolism among white women.

Published
2008

83. Rare Variation Facilitates Inferences of Fine-Scale Population Structure in Humans

Author

O’Connor, Timothy D., primary, Fu, Wenqing, additional, Mychaleckyj, Josyf C., additional, Logsdon, Benjamin, additional, Auer, Paul, additional, Carlson, Christopher S., additional, Leal, Suzanne M., additional, Smith, Joshua D., additional, Rieder, Mark J., additional, Bamshad, Michael J., additional, Nickerson, Deborah A., additional, and Akey, Joshua M., additional

Published
2014
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85. Genetic variants associated with warfarin dose in African-American individuals : a genome-wide association study

Author

Perera, Minoli A., Cavallari, Larisa H., Limdi, Nita A., Gamazon, Eric R., Konkashbaev, Anuar, Daneshjou, Roxana, Pluzhnikov, Anna, Crawford, Dana C., Wang, Jelai, Liu, Nianjun, Tatonetti, Nicholas, Bourgeois, Stephane, Takahashi, Harumi, Bradford, Yukiko, Burkley, Benjamin M., Desnick, Robert J., Halperin, Jonathan L., Khalifa, Sherief I., Langaee, Taimour Y., Lubitz, Steven A., Nutescu, Edith A., Oetjens, Matthew, Shahin, Mohamed H., Patel, Shitalben R., Sagreiya, Hersh, Tector, Matthew, Weck, Karen E., Rieder, Mark J., Scott, Stuart A., Wu, Alan H. B., Burmester, James K., Wadelius, Mia, Deloukas, Panos, Wagner, Michael J., Mushiroda, Taisei, Kubo, Michiaki, Roden, Dan M., Cox, Nancy J., Altman, Russ B., Klein, Teri E., Nakamura, Yusuke, Johnson, Julie A., Perera, Minoli A., Cavallari, Larisa H., Limdi, Nita A., Gamazon, Eric R., Konkashbaev, Anuar, Daneshjou, Roxana, Pluzhnikov, Anna, Crawford, Dana C., Wang, Jelai, Liu, Nianjun, Tatonetti, Nicholas, Bourgeois, Stephane, Takahashi, Harumi, Bradford, Yukiko, Burkley, Benjamin M., Desnick, Robert J., Halperin, Jonathan L., Khalifa, Sherief I., Langaee, Taimour Y., Lubitz, Steven A., Nutescu, Edith A., Oetjens, Matthew, Shahin, Mohamed H., Patel, Shitalben R., Sagreiya, Hersh, Tector, Matthew, Weck, Karen E., Rieder, Mark J., Scott, Stuart A., Wu, Alan H. B., Burmester, James K., Wadelius, Mia, Deloukas, Panos, Wagner, Michael J., Mushiroda, Taisei, Kubo, Michiaki, Roden, Dan M., Cox, Nancy J., Altman, Russ B., Klein, Teri E., Nakamura, Yusuke, and Johnson, Julie A.

Abstract

Background VKORC1 and CYP2C9 are important contributors to warfarin dose variability, but explain less variability for individuals of African descent than for those of European or Asian descent. We aimed to identify additional variants contributing to warfarin dose requirements in African Americans. Methods We did a genome-wide association study of discovery and replication cohorts. Samples from African-American adults (aged >= 18 years) who were taking a stable maintenance dose of warfarin were obtained at International Warfarin Pharmacogenetics Consortium (IWPC) sites and the University of Alabama at Birmingham (Birmingham, AL, USA). Patients enrolled at IWPC sites but who were not used for discovery made up the independent replication cohort. All participants were genotyped. We did a stepwise conditional analysis, conditioning first for VKORC1 -1639G -> A, followed by the composite genotype of CYP2C9*2 and CYP2C9*3. We prespecified a genome-wide significance threshold of p<5x10(-8) in the discovery cohort and p<0.0038 in the replication cohort. Findings The discovery cohort contained 533 participants and the replication cohort 432 participants. After the prespecified conditioning in the discovery cohort, we identified an association between a novel single nucleotide polymorphism in the CYP2C cluster on chromosome 10 (rs12777823) and warfarin dose requirement that reached genome-wide significance (p=1.51x10(-8)). This association was confirmed in the replication cohort (p=5.04x10(-5)); analysis of the two cohorts together produced a p value of 4.5x10(-12). Individuals heterozygous for the rs12777823 A allele need a dose reduction of 6.92 mg/week and those homozygous 9.34 mg/week. Regression analysis showed that the inclusion of rs12777823 significantly improves warfarin dose variability explained by the IWPC dosing algorithm (21% relative improvement). Interpretation A novel CYP2C single nucleotide polymorphism exerts a clinically relevant effect on wa

Published
2013
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89. Exome Sequencing Reveals Novel Rare Variants in the Ryanodine Receptor and Calcium Channel Genes in Malignant Hyperthermia Families

Author

Kim, Jerry H., primary, Jarvik, Gail P., additional, Browning, Brian L., additional, Rajagopalan, Ramakrishnan, additional, Gordon, Adam S., additional, Rieder, Mark J., additional, Robertson, Peggy D., additional, Nickerson, Deborah A., additional, Fisher, Nickla A., additional, and Hopkins, Philip M., additional

Published
2013
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90. Using synthetic templates to design an unbiased multiplex PCR assay

Author

Carlson, Christopher S., primary, Emerson, Ryan O., additional, Sherwood, Anna M., additional, Desmarais, Cindy, additional, Chung, Moon-Wook, additional, Parsons, Joseph M., additional, Steen, Michelle S., additional, LaMadrid-Herrmannsfeldt, Marissa A., additional, Williamson, David W., additional, Livingston, Robert J., additional, Wu, David, additional, Wood, Brent L., additional, Rieder, Mark J., additional, and Robins, Harlan, additional

Published
2013
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91. Pharmacogenetics in American Indian populations

Author

Fohner, Alison, primary, Muzquiz, LeeAnna I., additional, Austin, Melissa A., additional, Gaedigk, Andrea, additional, Gordon, Adam, additional, Thornton, Timothy, additional, Rieder, Mark J., additional, Pershouse, Mark A., additional, Putnam, Elizabeth A., additional, Howlett, Kevin, additional, Beatty, Patrick, additional, Thummel, Kenneth E., additional, and Woodahl, Erica L., additional

Published
2013
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92. Erratum: Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

Author

Fu, Wenqing, primary, O’Connor, Timothy D., additional, Jun, Goo, additional, Kang, Hyun Min, additional, Abecasis, Goncalo, additional, Leal, Suzanne M., additional, Gabriel, Stacey, additional, Rieder, Mark J., additional, Altshuler, David, additional, Shendure, Jay, additional, Nickerson, Deborah A., additional, Bamshad, Michael J., additional, Project, NHLBI Exome Sequencing, additional, and Akey, Joshua M., additional

Published
2013
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95. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Author

O’Roak, Brian J., primary, Vives, Laura, additional, Girirajan, Santhosh, additional, Karakoc, Emre, additional, Krumm, Niklas, additional, Coe, Bradley P., additional, Levy, Roie, additional, Ko, Arthur, additional, Lee, Choli, additional, Smith, Joshua D., additional, Turner, Emily H., additional, Stanaway, Ian B., additional, Vernot, Benjamin, additional, Malig, Maika, additional, Baker, Carl, additional, Reilly, Beau, additional, Akey, Joshua M., additional, Borenstein, Elhanan, additional, Rieder, Mark J., additional, Nickerson, Deborah A., additional, Bernier, Raphael, additional, Shendure, Jay, additional, and Eichler, Evan E., additional

Published
2012
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97. Erratum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Author

O'Roak, Brian J, primary, Deriziotis, Pelagia, additional, Lee, Choli, additional, Vives, Laura, additional, Schwartz, Jerrod J, additional, Girirajan, Santhosh, additional, Karakoc, Emre, additional, MacKenzie, Alexandra P, additional, Ng, Sarah B, additional, Baker, Carl, additional, Rieder, Mark J, additional, Nickerson, Deborah A, additional, Bernier, Raphael, additional, Fisher, Simon E, additional, Shendure, Jay, additional, and Eichler, Evan E, additional

Published
2012
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99. Evidence for involvement ofGNB1Lin autism

Author

Chen, Ying‐Zhang, primary, Matsushita, Mark, additional, Girirajan, Santhosh, additional, Lisowski, Mark, additional, Sun, Elizabeth, additional, Sul, Youngmee, additional, Bernier, Raphael, additional, Estes, Annette, additional, Dawson, Geraldine, additional, Minshew, Nancy, additional, Shellenberg, Gerard D., additional, Eichler, Evan E., additional, Rieder, Mark J., additional, Nickerson, Deborah A., additional, Tsuang, Debby W., additional, Tsuang, Ming T., additional, Wijsman, Ellen M., additional, Raskind, Wendy H., additional, and Brkanac, Zoran, additional

Published
2011
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100. Identification, Replication, and Functional Fine-Mapping of Expression Quantitative Trait Loci in Primary Human Liver Tissue

Author

Innocenti, Federico, primary, Cooper, Gregory M., additional, Stanaway, Ian B., additional, Gamazon, Eric R., additional, Smith, Joshua D., additional, Mirkov, Snezana, additional, Ramirez, Jacqueline, additional, Liu, Wanqing, additional, Lin, Yvonne S., additional, Moloney, Cliona, additional, Aldred, Shelly Force, additional, Trinklein, Nathan D., additional, Schuetz, Erin, additional, Nickerson, Deborah A., additional, Thummel, Ken E., additional, Rieder, Mark J., additional, Rettie, Allan E., additional, Ratain, Mark J., additional, Cox, Nancy J., additional, and Brown, Christopher D., additional

Published
2011
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