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3. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Author

Splinter, Kimberly, Adams, David R, Bacino, Carlos A, Bellen, Hugo J, Bernstein, Jonathan A, Cheatle-Jarvela, Alys M, Eng, Christine M, Esteves, Cecilia, Gahl, William A, Hamid, Rizwan, Jacob, Howard J, Kikani, Bijal, Koeller, David M, Kohane, Isaac S, Lee, Brendan H, Loscalzo, Joseph, Luo, Xi, McCray, Alexa T, Metz, Thomas O, Mulvihill, John J, Nelson, Stanley F, Palmer, Christina GS, Phillips, John A, Pick, Leslie, Postlethwait, John H, Reuter, Chloe, Shashi, Vandana, Sweetser, David A, Tifft, Cynthia J, Walley, Nicole M, Wangler, Michael F, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Worthey, Elizabeth A, Yamamoto, Shinya, and Ashley, Euan A

Subjects
Genetics, Clinical Research, Digestive Diseases, Health Services, Human Genome, Rare Diseases, Good Health and Well Being, Adult, Animals, Child, Diagnosis, Differential, Drosophila, Exome, Female, Genetic Testing, Health Care Costs, Humans, Male, Models, Animal, National Institutes of Health (U.S.), Sequence Analysis, DNA, Syndrome, United States, Undiagnosed Diseases Network, Medical and Health Sciences, General & Internal Medicine
Abstract

BackgroundMany patients remain without a diagnosis despite extensive medical evaluation. The Undiagnosed Diseases Network (UDN) was established to apply a multidisciplinary model in the evaluation of the most challenging cases and to identify the biologic characteristics of newly discovered diseases. The UDN, which is funded by the National Institutes of Health, was formed in 2014 as a network of seven clinical sites, two sequencing cores, and a coordinating center. Later, a central biorepository, a metabolomics core, and a model organisms screening center were added.MethodsWe evaluated patients who were referred to the UDN over a period of 20 months. The patients were required to have an undiagnosed condition despite thorough evaluation by a health care provider. We determined the rate of diagnosis among patients who subsequently had a complete evaluation, and we observed the effect of diagnosis on medical care.ResultsA total of 1519 patients (53% female) were referred to the UDN, of whom 601 (40%) were accepted for evaluation. Of the accepted patients, 192 (32%) had previously undergone exome sequencing. Symptoms were neurologic in 40% of the applicants, musculoskeletal in 10%, immunologic in 7%, gastrointestinal in 7%, and rheumatologic in 6%. Of the 382 patients who had a complete evaluation, 132 received a diagnosis, yielding a rate of diagnosis of 35%. A total of 15 diagnoses (11%) were made by clinical review alone, and 98 (74%) were made by exome or genome sequencing. Of the diagnoses, 21% led to recommendations regarding changes in therapy, 37% led to changes in diagnostic testing, and 36% led to variant-specific genetic counseling. We defined 31 new syndromes.ConclusionsThe UDN established a diagnosis in 132 of the 382 patients who had a complete evaluation, yielding a rate of diagnosis of 35%. (Funded by the National Institutes of Health Common Fund.).

Published
2018

5. Toward clinical genomics in everyday medicine: perspectives and recommendations

Author

Delaney, Susan K, Hultner, Michael L, Jacob, Howard J, Ledbetter, David H, McCarthy, Jeanette J, Ball, Michael, Beckman, Kenneth B, Belmont, John W, Bloss, Cinnamon S, Christman, Michael F, Cosgrove, Andy, Damiani, Stephen A, Danis, Timothy, Delledonne, Massimo, Dougherty, Michael J, Dudley, Joel T, Faucett, W Andrew, Friedman, Jennifer R, Haase, David H, Hays, Tom S, Heilsberg, Stu, Huber, Jeff, Kaminsky, Leah, Ledbetter, Nikki, Lee, Warren H, Levin, Elissa, Libiger, Ondrej, Linderman, Michael, Love, Richard L, Magnus, David C, Martland, AnneMarie, McClure, Susan L, Megill, Scott E, Messier, Helen, Nussbaum, Robert L, Palaniappan, Latha, Patay, Bradley A, Popovich, Bradley W, Quackenbush, John, Savant, Mark J, Su, Michael M, Terry, Sharon F, Tucker, Steven, Wong, William T, and Green, Robert C

Subjects
Genetics, Biotechnology, Clinical Research, Cancer, Human Genome, Generic health relevance, Good Health and Well Being, Delivery of Health Care, Genetic Testing, Genome, Human, Genomics, High-Throughput Nucleotide Sequencing, Humans, Precision Medicine, Reagent Kits, Diagnostic, Personalized medicine, precision medicine, clinical genomics, practice standards, genomic data, exome, genome, sequencing, genetic testing, Clinical Sciences
Abstract

Precision or personalized medicine through clinical genome and exome sequencing has been described by some as a revolution that could transform healthcare delivery, yet it is currently used in only a small fraction of patients, principally for the diagnosis of suspected Mendelian conditions and for targeting cancer treatments. Given the burden of illness in our society, it is of interest to ask how clinical genome and exome sequencing can be constructively integrated more broadly into the routine practice of medicine for the betterment of public health. In November 2014, 46 experts from academia, industry, policy and patient advocacy gathered in a conference sponsored by Illumina, Inc. to discuss this question, share viewpoints and propose recommendations. This perspective summarizes that work and identifies some of the obstacles and opportunities that must be considered in translating advances in genomics more widely into the practice of medicine.

Published
2016

7. Functional Annotation of Mouse Genome Sequences

Author

Nadeau, Joseph H., Balling, Rudi, Barsh, Greg, Beier, David, Brown, S. D. M., Bucan, Maja, Camper, Sally, Carlson, George, Copeland, Neal, Eppig, Janan, Fletcher, Colin, Frankel, Wayne N., Ganten, Detlev, Goldowitz, Dan, Goodnow, Chris, Guenet, Jean-Louis, Hicks, Geoff, de Angelis, Martin Hrabe, Jackson, Ian, Jacob, Howard J., Jenkins, Nancy, Johnson, Dabney, Justice, Monica, Kay, Steve, Kingsley, David, Lehrach, Hans, Magnuson, Terry, Meisler, Miriam, Poustka, AnneMarie, Rinchik, Eugene M., Rossant, Janet, Russell, Lee B., Schimenti, John, Shiroishi, Toshihiko, Skarnes, William C., Soriano, Phil, Stanford, William, Takahashi, Joseph S., Wurst, Wolfgang, and Zimmer, Andreas

Published
2001

11. p66Shc regulates renal vascular tone in hypertension-induced nephropathy

Author

Miller, Bradley, Palygin, Oleg, Rufanova, Victoriya A., Chong, Andrew, Lazar, Jozef, Jacob, Howard J., Mattson, David, Roman, Richard J., Williams, Jan M., Cowley, Jr., Allen W., Geurts, Aron M., Staruschenko, Alexander, Imig, John D., and Sorokin, Andrey

Subjects
Genetic regulation -- Research, Kidney diseases -- Genetic aspects -- Care and treatment -- Research, Hypertension -- Care and treatment -- Research -- Genetic aspects, Health care industry
Abstract

Renal preglomerular arterioles regulate vascular tone to ensure a large pressure gradient over short distances, a function that is extremely important for maintaining renal microcirculation. Regulation of renal microvascular tone is impaired in salt-sensitive (SS) hypertension-induced nephropathy, but the molecular mechanisms contributing to this impairment remain elusive. Here, we assessed the contribution of the SH2 adaptor protein p66Shc (encoded by Shc1) in regulating renal vascular tone and the development of renal vascular dysfunction associated with hypertension-induced nephropathy. We generated a panel of mutant rat strains in which specific modifications of Shc1 were introduced into the Dahl SS rats. In SS rats, overexpression of p66Shc was linked to increased renal damage. Conversely, deletion of p66Shc from these rats restored the myogenic responsiveness of renal preglomerular arterioles ex vivo and promoted cellular contraction in primary vascular smooth muscle cells (SMCs) that were isolated from renal vessels. In primary SMCs, p66Shc restricted the activation of transient receptor potential cation channels to attenuate cytosolic [Ca.sup.2+] influx, implicating a mechanism by which overexpression of p66Shc impairs renal vascular reactivity. These results establish the adaptor protein p66Shc as a regulator of renal vascular tone and a driver of impaired renal vascular function in hypertension-induced nephropathy., Introduction One of the major complications of hypertension is nephropathy, which is associated with impaired renal vascular responsiveness and structural changes (1). The microvascular injuries are detected in the majority [...]

Published
2016
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12. Additional file 2 of The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases

Author

Alsheikh, Ammar J., Wollenhaupt, Sabrina, King, Emily A., Reeb, Jonas, Ghosh, Sujana, Stolzenburg, Lindsay R., Tamim, Saleh, Lazar, Jozef, Davis, J. Wade, and Jacob, Howard J.

Abstract

Additional file 2 contains exact terms and phrases used to setup the seven filters that were used to narrow down the broad search results.

Published
2022
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13. Knockout Rats via Embryo Microinjection of Zinc-Finger Nucleases

Author

Geurts, Aron M., Cost, Gregory J., Freyvert, Yevgeniy, Zeitler, Bryan, Miller, Jeffrey C., Choi, Vivian M., Jenkins, Shirin S., Wood, Adam, Cui, Xiaoxia, Meng, Xiangdong, Vincent, Anna, Lam, Stephen, Michalkiewicz, Mieczyslaw, Schilling, Rebecca, Foeckler, Jamie, Kalloway, Shawn, Weiler, Hartmut, Ménoret, Séverine, Anegon, Ignacio, Davis, Gregory D., Zhang, Lei, Rebar, Edward J., Gregory, Philip D., Urnov, Fyodor D., Jacob, Howard J., and Buelow, Roland

Published
2009
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15. Phosducin influences sympathetic activity and prevents stress-induced hypertension in humans and mice

Author

Beetz, Nadine, Harrison, Michael D., Brede, Marc, Zong, Xiangang, Urbanski, Michal J., Sietmann, Anika, Kaufling, Jennifer, Barrot, Michel, Seeliger, Mathias W., Vieira-Coelho, Maria Augusta, Harriet, Pavel, Gaudet, Daniel, Seda, Ondrej, Tremblay, Johanne, Kotchen, Theodore A., Kaldunski, Mary, Nusing, Rolf, Szabo, Bela, Jacob, Howard J., Cowley, Jr., Allen W., Biel, Martin, Stoll, Monika, Lohse, Martin J., Broeckel, Ulrich, and Hein, Lutz

Subjects
Neurons, G proteins, Mice, Hypertension -- Prevention, Health care industry
Abstract

Hypertension and its complications represent leading causes of morbidity and mortality. Although the cause of hypertension is unknown in most patients, genetic factors are recognized as contributing significantly to an individual's lifetime risk of developing the condition. Here, we investigated the role of the G protein regulator phosducin (Pdc) in hypertension. Mice with a targeted deletion of the gene encoding Pdc ([Pdc.sup.[-/-]] mice) had increased blood pressure despite normal cardiac function and vascular reactivity, and displayed elevated catecholamine turnover in the peripheral sympathetic system. Isolated postganglionic sympathetic neurons from [Pdc.sup.[-/-]] mice showed prolonged action potential firing after stimulation with acetylcholine and increased firing frequencies during membrane depolarization. Furthermore, [Pdc.sup.[-/-]] mice displayed exaggerated increases in blood pressure in response to post-operative stress. Candidate gene-based association studies in 2 different human populations revealed several SNPs in the PDC gene to be associated with stress-dependent blood pressure phenotypes. Individuals homozygous for the G allele of an intronic PDC SNP (rs12402521) had 12-15 mmHg higher blood pressure than those carrying the A allele. These findings demonstrate that PDC is an important modulator of sympathetic activity and blood pressure and may thus represent a promising target for treatment of stress-dependent hypertension., Introduction Hypertension and its cardiovascular consequences contribute to the leading causes of morbidity and mortality worldwide (1). In over 90% of hypertensive patients, the causes of increased blood pressure are [...]

Published
2009
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17. Correction: A balance score between immune stimulatory and suppressive microenvironments identifies mediators of tumour immunity and predicts pan-cancer survival

Author

Turan, Tolga, primary, Kongpachith, Sarah, additional, Halliwill, Kyle, additional, Roelands, Jessica, additional, Hendrickx, Wouter, additional, Marincola, Francesco M., additional, Hudson, Thomas J., additional, Jacob, Howard J., additional, Bedognetti, Davide, additional, Samayoa, Josue, additional, and Ceccarelli, Michele, additional

Published
2020
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19. The Rat Genome Database 2013—data, tools and users

Author

Laulederkind, Stanley J. F., Hayman, G. Thomas, Wang, Shur-Jen, Smith, Jennifer R., Lowry, Timothy F., Nigam, Rajni, Petri, Victoria, de Pons, Jeff, Dwinell, Melinda R., Shimoyama, Mary, Munzenmaier, Diane H., Worthey, Elizabeth A., and Jacob, Howard J.

Published
2013
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21. A balance score between immune stimulatory and suppressive microenvironments identifies mediators of tumour immunity and predicts pan-cancer survival

Author

Turan, Tolga, primary, Kongpachith, Sarah, additional, Halliwill, Kyle, additional, Roelands, Jessica, additional, Hendrickx, Wouter, additional, Marincola, Francesco M., additional, Hudson, Thomas J., additional, Jacob, Howard J., additional, Bedognetti, Davide, additional, Samayoa, Josue, additional, and Ceccarelli, Michele, additional

Published
2020
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22. A Mutation in γ-Adducin Impairs Autoregulation of Renal Blood Flow and Promotes the Development of Kidney Disease

Author

Fan, Fan, primary, Geurts, Aron M., additional, Pabbidi, Mallikarjuna R., additional, Ge, Ying, additional, Zhang, Chao, additional, Wang, Shaoxun, additional, Liu, Yedan, additional, Gao, Wenjun, additional, Guo, Ya, additional, Li, Longyang, additional, He, Xiaochen, additional, Lv, Wenshan, additional, Muroya, Yoshikazu, additional, Hirata, Takashi, additional, Prokop, Jeremy, additional, Booz, George W., additional, Jacob, Howard J., additional, and Roman, Richard J., additional

Published
2020
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23. The Rat Genome Database 2009: variation, ontologies and pathways

Author

Dwinell, Melinda R., Worthey, Elizabeth A., Shimoyama, Mary, Bakir-Gungor, Burcu, DePons, Jeffrey, Laulederkind, Stanley, Lowry, Timothy, Nigram, Rajni, Petri, Victoria, Smith, Jennifer, Stoddard, Alexander, Twigger, Simon N., and Jacob, Howard J.

Published
2009

25. Acceleration of Diabetic Nephropathy in the T2DN Rat: 2186-PO

Author

WITTENBURG, APRIL L., OʼCONNOR, JESSICA A., EVANS, DARIN L., EVRARD, YVETTE A., LAPCZYNSKI, LAURA H., KORB, SALLY K., VERNON, HEATHER J., NYE, STEVEN H., COZZI, NICHOLAS V., DAHLY-VERNON, ANNETTE J., JACOB, HOWARD J., and ROMAN, RICHARD J.

Published
2006

27. Diabetes Induced Nephropathy in the T2DN Rat: 773-P

Author

OʼCONNOR, JESSICA A., WITTENBURG, APRIL L., PERRINE, MICHAEL F., LAPCZYNSKI, LAURA H., EVANS, DARIN L., EVRARD, YVETTE A., KORB, SALLY K., DAHLY-VERNON, ANNETTE J., VERNON, HEATHER J., NYE, STEVEN H., COZZI, NICHOLAS V., JACOB, HOWARD J., and ROMAN, RICHARD J.

Published
2006

30. Impact of genomics on research in the rat

Author

Lazar, Jozef, Moreno, Carol, Jacob, Howard J., and Kwitek, Anne E.

Subjects
Genomics -- Research, Nucleotide sequencing -- Observations, Rats -- Genetic aspects, Rattus -- Genetic aspects, Health
Abstract

The rat is being used as an invaluable model for genomic research to study the function of genes. It is concluded that the explosion of research using the rat, is a result of the genome sequencing of the rat.

Published
2005

37. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Author

Machol, Keren, primary, Rousseau, Justine, additional, Ehresmann, Sophie, additional, Garcia, Thomas, additional, Nguyen, Thi Tuyet Mai, additional, Spillmann, Rebecca C., additional, Sullivan, Jennifer A., additional, Shashi, Vandana, additional, Jiang, Yong-hui, additional, Stong, Nicholas, additional, Fiala, Elise, additional, Willing, Marcia, additional, Pfundt, Rolph, additional, Kleefstra, Tjitske, additional, Cho, Megan T., additional, McLaughlin, Heather, additional, Rosello Piera, Monica, additional, Orellana, Carmen, additional, Martínez, Francisco, additional, Caro-Llopis, Alfonso, additional, Monfort, Sandra, additional, Roscioli, Tony, additional, Nixon, Cheng Yee, additional, Buckley, Michael F., additional, Turner, Anne, additional, Jones, Wendy D., additional, van Hasselt, Peter M., additional, Hofstede, Floris C., additional, van Gassen, Koen L.I., additional, Brooks, Alice S., additional, van Slegtenhorst, Marjon A., additional, Lachlan, Katherine, additional, Sebastian, Jessica, additional, Madan-Khetarpal, Suneeta, additional, Sonal, Desai, additional, Sakkubai, Naidu, additional, Thevenon, Julien, additional, Faivre, Laurence, additional, Maurel, Alice, additional, Petrovski, Slavé, additional, Krantz, Ian D., additional, Tarpinian, Jennifer M., additional, Rosenfeld, Jill A., additional, Lee, Brendan H., additional, Campeau, Philippe M., additional, Adams, David R., additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Barseghyan, Hayk, additional, Batzli, Gabriel F., additional, Beggs, Alan H., additional, Behnam, Babak, additional, Bican, Anna, additional, Bick, David P., additional, Birch, Camille L., additional, Bonner, Devon, additional, Boone, Braden E., additional, Bostwick, Bret L., additional, Briere, Lauren C., additional, Brown, Donna M., additional, Brush, Matthew, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Chen, Shan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cogan, Joy D., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Craigen, William J., additional, D’Souza, Precilla, additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Dell’Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dillon, Ani, additional, Dipple, Katrina M., additional, Donnell-Fink, Laurel A., additional, Dorrani, Naghmeh, additional, Dorset, Daniel C., additional, Douine, Emilie D., additional, Draper, David D., additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Eskin, Ascia, additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Ferreira, Carlos, additional, Fogel, Brent L., additional, Friedman, Noah D., additional, Gahl, William A., additional, Glanton, Emily, additional, Godfrey, Rena A., additional, Goldstein, David B., additional, Gould, Sarah E., additional, Gourdine, Jean-Philippe F., additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Haendel, Melissa, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Handley, Lori H., additional, Herzog, Matthew R., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Howerton, Ellen M., additional, Huang, Yong, additional, Jacob, Howard J., additional, Jain, Mahim, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Kohane, Isaac S., additional, Krasnewich, Donna M., additional, Krieg, Elizabeth L., additional, Krier, Joel B., additional, Lalani, Seema R., additional, Lau, C. Christopher, additional, Lazar, Jozef, additional, Lee, Hane, additional, Levy, Shawn E., additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Lipson, Allen, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Markello, Thomas C., additional, Marom, Ronit, additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, May, Thomas, additional, McConkie-Rosell, Allyn, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Might, Matthew, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murphy, Jennifer L., additional, Muzny, Donna M., additional, Nehrebecky, Michele E., additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Orange, Jordan S., additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Pena, Loren D.M., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Reuter, Chloe M., additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Schoch, Kelly, additional, Schroeder, Molly C., additional, Scott, Daryl A., additional, Sharma, Prashant, additional, Signer, Rebecca, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Smith, Kevin S., additional, Splinter, Kimberly, additional, Stoler, Joan M., additional, Sweetser, David A., additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Urv, Tiina K., additional, Valivullah, Zaheer M., additional, Vilain, Eric, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Westerfield, Monte, additional, Wise, Anastasia L., additional, Wolfe, Lynne A., additional, Worthey, Elizabeth A., additional, Yamamoto, Shinya, additional, Yang, Yaping, additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, and Zheng, Allison, additional

Published
2019
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38. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

Author

Shashi, Vandana, primary, Schoch, Kelly, additional, Spillmann, Rebecca, additional, Cope, Heidi, additional, Tan, Queenie K.-G., additional, Walley, Nicole, additional, Pena, Loren, additional, McConkie-Rosell, Allyn, additional, Jiang, Yong-Hui, additional, Stong, Nicholas, additional, Need, Anna C., additional, Goldstein, David B., additional, Adams, David R., additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Ashley, Euan A., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Barseghyan, Hayk, additional, Batzli, Gabriel F., additional, Beggs, Alan H., additional, Behnam, Babak, additional, Bellen, Hugo J., additional, Bernstein, Jonathan A., additional, Bican, Anna, additional, Bick, David P., additional, Birch, Camille L., additional, Bonner, Devon, additional, Boone, Braden E., additional, Bostwick, Bret L., additional, Briere, Lauren C., additional, Brown, Donna M., additional, Brush, Matthew, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Chen, Shan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cogan, Joy D., additional, Cooper, Cynthia M., additional, Craigen, William J., additional, D’Souza, Precilla, additional, Davids, Mariska, additional, Davidson, Jean M., additional, Dayal, Jyoti G., additional, Dell’Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dipple, Katrina M., additional, Donnell-Fink, Laurel A., additional, Dorrani, Naghmeh, additional, Dorset, Daniel C., additional, Douine, Emilie D., additional, Draper, David D., additional, Dries, Annika M., additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Enns, Gregory M., additional, Eskin, Ascia, additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Fernandez, Liliana, additional, Ferreira, Carlos, additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Friedman, Noah D., additional, Gahl, William A., additional, Glanton, Emily, additional, Godfrey, Rena A., additional, Gould, Sarah E., additional, Gourdine, Jean-Philippe F., additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Haendel, Melissa, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Handley, Lori H., additional, Herzog, Matthew R., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Howerton, Ellen M., additional, Huang, Yong, additional, Jacob, Howard J., additional, Jain, Mahim, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Koeller, David M., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krasnewich, Donna M., additional, Krieg, Elizabeth L., additional, Krier, Joel B., additional, Kyle, Jennifer E., additional, Lalani, Seema R., additional, Lau, C. Christopher, additional, Lazar, Jozef, additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Lee, Hane, additional, Levy, Shawn E., additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Markello, Thomas C., additional, Marom, Ronit, additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, May, Thomas, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Merker, Jason D., additional, Metz, Thomas O., additional, Might, Matthew, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murphy, Jennifer L., additional, Muzny, Donna M., additional, Nehrebecky, Michele E., additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Orange, Jordan S., additional, Pallais, J. Carl, additional, Palmer, Christina GS., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Pena, Loren DM., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Reuter, Chloe M., additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Schroeder, Molly C., additional, Scott, Daryl A., additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Smith, Kevin S., additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Sullivan, Jennifer A., additional, Sweetser, David A., additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Urv, Tiina K., additional, Valivullah, Zaheer M., additional, Vilain, Eric, additional, Vogel, Tiphanie P., additional, Waggott, Daryl M., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Wan, Jijun, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Wise, Anastasia L., additional, Wolfe, Lynne A., additional, Worthey, Elizabeth A., additional, Yamamoto, Shinya, additional, Yang, Yaping, additional, Yoon, Amanda J., additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, and Zheng, Allison, additional

Published
2019
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40. Comprehensive quality control utilizing the prehybridization third-dye image leads to accurate gene expression measurements by cDNA microarrays

Author

Jiang Nan, Chen Li-Yen, Xiang Bixia, Meyer Lisa, Jia Shuang, Wang Xujing, Moreno Carol, Jacob Howard J, Ghosh Soumitra, and Hessner Martin J

Subjects
Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5
Abstract

Abstract Background Gene expression profiling using microarrays has become an important genetic tool. Spotted arrays prepared in academic labs have the advantage of low cost and high design and content flexibility, but are often limited by their susceptibility to quality control (QC) issues. Previously, we have reported a novel 3-color microarray technology that enabled array fabrication QC. In this report we further investigated its advantage in spot-level data QC. Results We found that inadequate amount of bound probes available for hybridization led to significant, gene-specific compression in ratio measurements, increased data variability, and printing pin dependent heterogeneities. The impact of such problems can be captured through the definition of quality scores, and efficiently controlled through quality-dependent filtering and normalization. We compared gene expression measurements derived using our data processing pipeline with the known input ratios of spiked in control clones, and with the measurements by quantitative real time RT-PCR. In each case, highly linear relationships (R2>0.94) were observed, with modest compression in the microarray measurements (correction factor Conclusion Our microarray analytical and technical advancements enabled a better dissection of the sources of data variability and hence a more efficient QC. With that highly accurate gene expression measurements can be achieved using the cDNA microarray technology.

Published
2006
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41. IRF2BPL Is Associated with Neurological Phenotypes

Author

Marcogliese, Paul C., primary, Shashi, Vandana, additional, Spillmann, Rebecca C., additional, Stong, Nicholas, additional, Rosenfeld, Jill A., additional, Koenig, Mary Kay, additional, Martínez-Agosto, Julián A., additional, Herzog, Matthew, additional, Chen, Agnes H., additional, Dickson, Patricia I., additional, Lin, Henry J., additional, Vera, Moin U., additional, Salamon, Noriko, additional, Graham, John M., additional, Ortiz, Damara, additional, Infante, Elena, additional, Steyaert, Wouter, additional, Dermaut, Bart, additional, Poppe, Bruce, additional, Chung, Hyung-Lok, additional, Zuo, Zhongyuan, additional, Lee, Pei-Tseng, additional, Kanca, Oguz, additional, Xia, Fan, additional, Yang, Yaping, additional, Smith, Edward C., additional, Jasien, Joan, additional, Kansagra, Sujay, additional, Spiridigliozzi, Gail, additional, El-Dairi, Mays, additional, Lark, Robert, additional, Riley, Kacie, additional, Koeberl, Dwight D., additional, Golden-Grant, Katie, additional, Yamamoto, Shinya, additional, Wangler, Michael F., additional, Mirzaa, Ghayda, additional, Hemelsoet, Dimitri, additional, Lee, Brendan, additional, Nelson, Stanley F., additional, Goldstein, David B., additional, Bellen, Hugo J., additional, Pena, Loren D.M., additional, Callens, Steven, additional, Coucke, Paul, additional, Terryn, Wim, additional, Van Coster, Rudy, additional, Adams, David R., additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Barseghyan, Hayk, additional, Batzli, Gabriel F., additional, Beggs, Alan H., additional, Behnam, Babak, additional, Bican, Anna, additional, Bick, David P., additional, Birch, Camille L., additional, Bonner, Devon, additional, Boone, Braden E., additional, Bostwick, Bret L., additional, Briere, Lauren C., additional, Brown, Donna M., additional, Brush, Matthew, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Chen, Shan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cogan, Joy D., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Craigen, William J., additional, D’Souza, Precilla, additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Dell’Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dillon, Ani, additional, Dipple, Katrina M., additional, Donnell-Fink, Laurel A., additional, Dorrani, Naghmeh, additional, Dorset, Daniel C., additional, Douine, Emilie D., additional, Draper, David D., additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Eskin, Ascia, additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Ferreira, Carlos, additional, Fogel, Brent L., additional, Friedman, Noah D., additional, Gahl, William A., additional, Glanton, Emily, additional, Godfrey, Rena A., additional, Gould, Sarah E., additional, Gourdine, Jean-Philippe F., additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Haendel, Melissa, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Handley, Lori H., additional, Herzog, Matthew R., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Howerton, Ellen M., additional, Huang, Yong, additional, Jacob, Howard J., additional, Jain, Mahim, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Kohane, Isaac S., additional, Krasnewich, Donna M., additional, Krieg, Elizabeth L., additional, Krier, Joel B., additional, Lalani, Seema R., additional, Lau, C. Christopher, additional, Lazar, Jozef, additional, Lee, Brendan H., additional, Lee, Hane, additional, Levy, Shawn E., additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Lipson, Allen, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Markello, Thomas C., additional, Marom, Ronit, additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, May, Thomas, additional, McConkie-Rosell, Allyn, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Might, Matthew, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murphy, Jennifer L., additional, Muzny, Donna M., additional, Nehrebecky, Michele E., additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Orange, Jordan S., additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Reuter, Chloe M., additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Schoch, Kelly, additional, Schroeder, Molly C., additional, Scott, Daryl A., additional, Sharma, Prashant, additional, Signer, Rebecca, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Smith, Kevin S., additional, Splinter, Kimberly, additional, Stoler, Joan M., additional, Sullivan, Jennifer A., additional, Sweetser, David A., additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Urv, Tiina K., additional, Valivullah, Zaheer M., additional, Vilain, Eric, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Westerfield, Monte, additional, Wise, Anastasia L., additional, Wolfe, Lynne A., additional, Worthey, Elizabeth A., additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, and Zheng, Allison, additional

Published
2018
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42. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Author

Pena, Loren D.M., primary, Jiang, Yong-Hui, additional, Schoch, Kelly, additional, Spillmann, Rebecca C., additional, Walley, Nicole, additional, Stong, Nicholas, additional, Rapisardo Horn, Sarah, additional, Sullivan, Jennifer A., additional, McConkie-Rosell, Allyn, additional, Kansagra, Sujay, additional, Smith, Edward C., additional, El-Dairi, Mays, additional, Bellet, Jane, additional, Keels, Martha Ann, additional, Jasien, Joan, additional, Kranz, Peter G., additional, Noel, Richard, additional, Nagaraj, Shashi K., additional, Lark, Robert K., additional, Wechsler, Daniel S.G., additional, del Gaudio, Daniela, additional, Leung, Marco L., additional, Hendon, Laura G., additional, Parker, Collette C., additional, Jones, Kelly L., additional, Goldstein, David B., additional, Shashi, Vandana, additional, Alejandro, Mercedes E., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Bostwick, Bret L., additional, Burrage, Lindsay C., additional, Chen, Shan, additional, Clark, Gary D., additional, Craigen, William J., additional, Dhar, Shweta U., additional, Emrick, Lisa T., additional, Graham, Brett H., additional, Hanchard, Neil A., additional, Jain, Mahim, additional, Lalani, Seema R., additional, Lee, Brendan H., additional, Lewis, Richard A., additional, Azamian, Mashid S., additional, Moretti, Paolo M., additional, Nicholas, Sarah K., additional, Orange, Jordan S., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Rosenfeld, Jill A., additional, Samson, Susan L., additional, Scott, Daryl A., additional, Tran, Alyssa A., additional, Vogel, Tiphanie P., additional, Zhang, Jing, additional, Bellen, Hugo J., additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Eng, Christine M., additional, Muzny, Donna M., additional, Ward, Patricia A., additional, Yang, Yaping, additional, Jiang, Yong-hui, additional, Pena, Loren D.M., additional, Walley, Nicole M., additional, Beggs, Alan H., additional, Briere, Lauren C., additional, Cooper, Cynthia M., additional, Donnell-Fink, Laurel A., additional, Krieg, Elizabeth L., additional, Krier, Joel B., additional, Lincoln, Sharyn A., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, MacRae, Calum A., additional, Pallais, J. Carl, additional, Rodan, Lance H., additional, Silverman, Edwin K., additional, Stoler, Joan M., additional, Sweetser, David A., additional, Walsh, Chris A., additional, Esteves, Cecilia, additional, Holm, Ingrid A., additional, Kohane, Isaac S., additional, Mazur, Paul, additional, McCray, Alexa T., additional, Might, Matthew, additional, Ramoni, Rachel B., additional, Splinter, Kimberly, additional, Bick, David P., additional, Birch, Camille L., additional, Boone, Braden E., additional, Brown, Donna M., additional, Dorset, Daniel C., additional, Handley, Lori H., additional, Jacob, Howard J., additional, Jones, Angela L., additional, Lazar, Jozef, additional, Levy, Shawn E., additional, Newberry, J. Scott, additional, Schroeder, Molly C., additional, Strong, Kimberly A., additional, Worthey, Elizabeth A., additional, Dayal, Jyoti G., additional, Eckstein, David J., additional, Gould, Sarah E., additional, Howerton, Ellen M., additional, Krasnewich, Donna M., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mulvihill, John J., additional, Urv, Tiina K., additional, Wise, Anastasia L., additional, Soldatos, Ariane G., additional, Brush, Matthew, additional, Gourdine, Jean-Philippe F., additional, Haendel, Melissa, additional, Koeller, David M., additional, Kyle, Jennifer E., additional, Metz, Thomas O., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Ashley, Euan A., additional, Bernstein, Jonathan A., additional, Dries, Annika M., additional, Fisher, Paul G., additional, Kohler, Jennefer N., additional, Waggott, Daryl M., additional, Wheeler, Matthew T., additional, Zornio, Patricia A., additional, Allard, Patrick, additional, Barseghyan, Hayk, additional, Dell'Angelica, Esteban C., additional, Dillon, Ani, additional, Dipple, Katrina M., additional, Dorrani, Naghmeh, additional, Douine, Emilie D., additional, Eskin, Ascia, additional, Fogel, Brent L., additional, Herzog, Matthew R., additional, Lee, Hane, additional, Lipson, Allen, additional, Loo, Sandra K., additional, Martínez-Agosto, Julian A., additional, Nelson, Stan F., additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Sinsheimer, Janet S., additional, Vilain, Eric, additional, Zheng, Allison, additional, Adams, Christopher J., additional, Burke, Elizabeth A., additional, Chao, Katherine R., additional, Davids, Mariska, additional, Draper, David D., additional, Estwick, Tyra, additional, Frisby, Trevor S., additional, Frost, Kate, additional, Gartner, Valerie, additional, Godfrey, Rena A., additional, Goheen, Mitchell, additional, Golas, Gretchen A., additional, Gordon, Mary G., additional, Groden, Catherine A., additional, Hackbarth, Mary E., additional, Hardee, Isabel, additional, Johnston, Jean M., additional, Koehler, Alanna E., additional, Latham, Lea, additional, Latour, Yvonne L., additional, Lau, C. Christopher, additional, Levy, Denise J., additional, Liebendorfer, Adam P., additional, Macnamara, Ellen F., additional, Maduro, Valerie V., additional, Markello, Thomas C., additional, McCarty, Alexandra J., additional, Murphy, Jennifer L., additional, Nehrebecky, Michele E., additional, Novacic, Donna, additional, Pusey, Barbara N., additional, Sadozai, Sarah, additional, Schaffer, Katherine E., additional, Sharma, Prashant, additional, Thomas, Sara P., additional, Tolman, Nathanial J., additional, Toro, Camilo, additional, Valivullah, Zaheer M., additional, Wahl, Colleen E., additional, Warburton, Mike, additional, Weech, Alec A., additional, Yu, Guoyun, additional, Gropman, Andrea L., additional, Adams, David R., additional, Gahl, William A., additional, Malicdan, May Christine V., additional, Tifft, Cynthia J., additional, Wolfe, Lynne A., additional, Lee, Paul R., additional, Postlethwait, John H., additional, Westerfield, Monte, additional, Bican, Anna, additional, Cogan, Joy D., additional, Hamid, Rizwan, additional, Newman, John H., additional, Phillips, John A., additional, and Robertson, Amy K., additional

Published
2018
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43. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Author

Oláhová, Monika, primary, Yoon, Wan Hee, additional, Thompson, Kyle, additional, Jangam, Sharayu, additional, Fernandez, Liliana, additional, Davidson, Jean M., additional, Kyle, Jennifer E., additional, Grove, Megan E., additional, Fisk, Dianna G., additional, Kohler, Jennefer N., additional, Holmes, Matthew, additional, Dries, Annika M., additional, Huang, Yong, additional, Zhao, Chunli, additional, Contrepois, Kévin, additional, Zappala, Zachary, additional, Frésard, Laure, additional, Waggott, Daryl, additional, Zink, Erika M., additional, Kim, Young-Mo, additional, Heyman, Heino M., additional, Stratton, Kelly G., additional, Webb-Robertson, Bobbie-Jo M., additional, Snyder, Michael, additional, Merker, Jason D., additional, Montgomery, Stephen B., additional, Fisher, Paul G., additional, Feichtinger, René G., additional, Mayr, Johannes A., additional, Hall, Julie, additional, Barbosa, Ines A., additional, Simpson, Michael A., additional, Deshpande, Charu, additional, Waters, Katrina M., additional, Koeller, David M., additional, Metz, Thomas O., additional, Morris, Andrew A., additional, Schelley, Susan, additional, Cowan, Tina, additional, Friederich, Marisa W., additional, McFarland, Robert, additional, Van Hove, Johan L.K., additional, Enns, Gregory M., additional, Yamamoto, Shinya, additional, Ashley, Euan A., additional, Wangler, Michael F., additional, Taylor, Robert W., additional, Bellen, Hugo J., additional, Bernstein, Jonathan A., additional, Wheeler, Matthew T., additional, Adams, David R., additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Barseghyan, Hayk, additional, Batzli, Gabriel F., additional, Beggs, Alan H., additional, Behnam, Babak, additional, Bican, Anna, additional, Bick, David P., additional, Birch, Camille L., additional, Bonner, Devon, additional, Boone, Braden E., additional, Bostwick, Bret L., additional, Briere, Lauren C., additional, Brown, Donna M., additional, Brush, Matthew, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Chen, Shan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cogan, Joy D., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Craigen, William J., additional, D’Souza, Precilla, additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Dell’Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dillon, Ani, additional, Dipple, Katrina M., additional, Donnell-Fink, Laurel A., additional, Dorrani, Naghmeh, additional, Dorset, Daniel C., additional, Douine, Emilie D., additional, Draper, David D., additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Eskin, Ascia, additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Ferreira, Carlos, additional, Fogel, Brent L., additional, Friedman, Noah D., additional, Gahl, William A., additional, Glanton, Emily, additional, Godfrey, Rena A., additional, Goldstein, David B., additional, Gould, Sarah E., additional, Gourdine, Jean-Philippe F., additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Haendel, Melissa, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Handley, Lori H., additional, Herzog, Matthew R., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Howerton, Ellen M., additional, Jacob, Howard J., additional, Jain, Mahim, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Kohane, Isaac S., additional, Krasnewich, Donna M., additional, Krieg, Elizabeth L., additional, Krier, Joel B., additional, Lalani, Seema R., additional, Lau, C. Christopher, additional, Lazar, Jozef, additional, Lee, Brendan H., additional, Lee, Hane, additional, Levy, Shawn E., additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Lipson, Allen, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Markello, Thomas C., additional, Marom, Ronit, additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, May, Thomas, additional, McConkie-Rosell, Allyn, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Might, Matthew, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murphy, Jennifer L., additional, Muzny, Donna M., additional, Nehrebecky, Michele E., additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Orange, Jordan S., additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Pena, Loren D.M., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Reuter, Chloe M., additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Schoch, Kelly, additional, Schroeder, Molly C., additional, Scott, Daryl A., additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Smith, Kevin S., additional, Spillmann, Rebecca C., additional, Splinter, Kimberly, additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Sweetser, David A., additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Urv, Tiina K., additional, Valivullah, Zaheer M., additional, Vilain, Eric, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Ward, Patricia A., additional, Westerfield, Monte, additional, Wise, Anastasia L., additional, Wolfe, Lynne A., additional, Worthey, Elizabeth A., additional, Yang, Yaping, additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, and Zheng, Allison, additional

Published
2018
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44. Characterization of Coding/Noncoding Variants for SHROOM3 in Patients with CKD

Author

Prokop, Jeremy W., primary, Yeo, Nan Cher, additional, Ottmann, Christian, additional, Chhetri, Surya B., additional, Florus, Kacie L., additional, Ross, Emily J., additional, Sosonkina, Nadiya, additional, Link, Brian A., additional, Freedman, Barry I., additional, Coppola, Candice J., additional, McDermott-Roe, Chris, additional, Leysen, Seppe, additional, Milroy, Lech-Gustav, additional, Meijer, Femke A., additional, Geurts, Aron M., additional, Rauscher, Frank J., additional, Ramaker, Ryne, additional, Flister, Michael J., additional, Jacob, Howard J., additional, Mendenhall, Eric M., additional, and Lazar, Jozef, additional

Published
2018
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46. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Author

Wang, Julia, primary, Al-Ouran, Rami, additional, Hu, Yanhui, additional, Kim, Seon-Young, additional, Wan, Ying-Wooi, additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Chao, Hsiao-Tuan, additional, Comjean, Aram, additional, Mohr, Stephanie E., additional, Perrimon, Norbert, additional, Liu, Zhandong, additional, Bellen, Hugo J., additional, Adams, Christopher J., additional, Adams, David R., additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Ashley, Euan A., additional, Azamian, Mashid S., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Barseghyan, Hayk, additional, Beggs, Alan H., additional, Bernstein, Jonathan A., additional, Bican, Anna, additional, Bick, David P., additional, Birch, Camille L., additional, Boone, Braden E., additional, Briere, Lauren C., additional, Brown, Donna M., additional, Brush, Matthew, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Chao, Katherine R., additional, Clark, Gary D., additional, Cogan, Joy D., additional, Cooper, Cynthia M., additional, Craigen, William J., additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Dell’Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dipple, Katrina M., additional, Donnell-Fink, Laurel A., additional, Dorrani, Naghmeh, additional, Dorset, Daniel C., additional, Draper, David D., additional, Dries, Annika M., additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Fisher, Paul G., additional, Frisby, Trevor S., additional, Frost, Kate, additional, Gahl, William A., additional, Gartner, Valerie, additional, Godfrey, Rena A., additional, Goheen, Mitchell, additional, Golas, Gretchen A., additional, Goldstein, David B., additional, Gordon, Mary G., additional, Gould, Sarah E., additional, Gourdine, Jean-Philippe F., additional, Graham, Brett H., additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Hackbarth, Mary E., additional, Haendel, Melissa, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Handley, Lori H., additional, Hardee, Isabel, additional, Herzog, Matthew R., additional, Holm, Ingrid A., additional, Howerton, Ellen M., additional, Jacob, Howard J., additional, Jain, Mahim, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Koehler, Alanna E., additional, Koeller, David M., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krasnewich, Donna M., additional, Krieg, Elizabeth L., additional, Krier, Joel B., additional, Kyle, Jennifer E., additional, Lalani, Seema R., additional, Latham, Lea, additional, Latour, Yvonne L., additional, Lau, C. Christopher, additional, Lazar, Jozef, additional, Lee, Brendan H., additional, Lee, Hane, additional, Lee, Paul R., additional, Levy, Shawn E., additional, Levy, Denise J., additional, Lewis, Richard A., additional, Liebendorfer, Adam P., additional, Lincoln, Sharyn A., additional, Loomis, Carson R., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Markello, Thomas C., additional, Mazur, Paul, additional, McCarty, Alexandra J., additional, McConkie-Rosell, Allyn, additional, McCray, Alexa T., additional, Metz, Thomas O., additional, Might, Matthew, additional, Moretti, Paolo M., additional, Mulvihill, John J., additional, Murphy, Jennifer L., additional, Muzny, Donna M., additional, Nehrebecky, Michele E., additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Orange, Jordan S., additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Pena, Loren D.M., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Ramoni, Rachel B., additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Sadozai, Sarah, additional, Schaffer, Katherine E., additional, Schoch, Kelly, additional, Schroeder, Molly C., additional, Scott, Daryl A., additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Soldatos, Ariane G., additional, Spillmann, Rebecca C., additional, Splinter, Kimberly, additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Strong, Kimberly A., additional, Sullivan, Jennifer A., additional, Sweetser, David A., additional, Thomas, Sara P., additional, Tifft, Cynthia J., additional, Tolman, Nathanial J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Valivullah, Zaheer M., additional, Vilain, Eric, additional, Waggott, Daryl M., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Warburton, Mike, additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Weech, Alec A., additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Wise, Anastasia L., additional, Wolfe, Lynne A., additional, Worthey, Elizabeth A., additional, Yang, Yaping, additional, Yu, Guoyun, additional, and Zornio, Patricia A., additional

Published
2017
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47. Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

Author

Manolio, Teri A., primary, Fowler, Douglas M., additional, Starita, Lea M., additional, Haendel, Melissa A., additional, MacArthur, Daniel G., additional, Biesecker, Leslie G., additional, Worthey, Elizabeth, additional, Chisholm, Rex L., additional, Green, Eric D., additional, Jacob, Howard J., additional, McLeod, Howard L., additional, Roden, Dan, additional, Rodriguez, Laura Lyman, additional, Williams, Marc S., additional, Cooper, Gregory M., additional, Cox, Nancy J., additional, Herman, Gail E., additional, Kingsmore, Stephen, additional, Lo, Cecilia, additional, Lutz, Cathleen, additional, MacRae, Calum A., additional, Nussbaum, Robert L., additional, Ordovas, Jose M., additional, Ramos, Erin M., additional, Robinson, Peter N., additional, Rubinstein, Wendy S., additional, Seidman, Christine, additional, Stranger, Barbara E., additional, Wang, Haoyi, additional, Westerfield, Monte, additional, and Bult, Carol, additional

Published
2017
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49. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Author

Schoch, Kelly, primary, Meng, Linyan, additional, Szelinger, Szabolcs, additional, Bearden, David R., additional, Stray-Pedersen, Asbjorg, additional, Busk, Oyvind L., additional, Stong, Nicholas, additional, Liston, Eriskay, additional, Cohn, Ronald D., additional, Scaglia, Fernando, additional, Rosenfeld, Jill A., additional, Tarpinian, Jennifer, additional, Skraban, Cara M., additional, Deardorff, Matthew A., additional, Friedman, Jeremy N., additional, Akdemir, Zeynep Coban, additional, Walley, Nicole, additional, Mikati, Mohamad A., additional, Kranz, Peter G., additional, Jasien, Joan, additional, McConkie-Rosell, Allyn, additional, McDonald, Marie, additional, Wechsler, Stephanie Burns, additional, Freemark, Michael, additional, Kansagra, Sujay, additional, Freedman, Sharon, additional, Bali, Deeksha, additional, Millan, Francisca, additional, Bale, Sherri, additional, Nelson, Stanley F., additional, Lee, Hane, additional, Dorrani, Naghmeh, additional, Goldstein, David B., additional, Xiao, Rui, additional, Yang, Yaping, additional, Posey, Jennifer E., additional, Martinez-Agosto, Julian A., additional, Lupski, James R., additional, Wangler, Michael F., additional, Shashi, Vandana, additional, Grody, Wayne W., additional, Strom, Samuel P., additional, Vilain, Eric, additional, Deignan, Joshua, additional, Quintero-Rivera, Fabiola, additional, Kantarci, Sibel, additional, Mullegama, Sureni, additional, Kang, Sung-Hae, additional, Alejandro, Mercedes E., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Burrage, Lindsay C., additional, Clark, Gary D., additional, Craigen, William J., additional, Dhar, Shweta U., additional, Emrick, Lisa T., additional, Graham, Brett H., additional, Hanchard, Neil A., additional, Jain, Mahim, additional, Lalani, Seema R., additional, Lee, Brendan H., additional, Lewis, Richard A., additional, Mashid, Azamian S., additional, Moretti, Paolo M., additional, Nicholas, Sarah K., additional, Orange, Jordan S., additional, Potocki, Lorraine, additional, Scott, Daryl A., additional, Tran, Alyssa A., additional, Bellen, Hugo J., additional, Yamamoto, Shinya, additional, Eng, Christine M., additional, Muzny, Donna M., additional, Ward, Patricia A., additional, Gropman, Andrea L., additional, Jiang, Yong-hui, additional, Pena, Loren D.M., additional, Schoch, Kelly, additional, Spillmann, Rebecca C., additional, Sullivan, Jennifer A., additional, Walley, Nicole M., additional, Beggs, Alan H., additional, Briere, Lauren C., additional, Cooper, Cynthia M., additional, Donnell-Fink, Laurel A., additional, Krieg, Elizabeth L., additional, Krier, Joel B., additional, Lincoln, Sharyn A., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, MacRae, Calum A., additional, Pallais, J. Carl, additional, Rodan, Lance H., additional, Silverman, Edwin K., additional, Stoler, Joan M., additional, Sweetser, David A., additional, Walsh, Chris A., additional, Esteves, Cecilia, additional, Holm, Ingrid A., additional, Kohane, Isaac S., additional, Mazur, Paul, additional, McCray, Alexa T., additional, Might, Matthew, additional, Ramoni, Rachel B., additional, Splinter, Kimberly, additional, Bick, David P., additional, Birch, Camille L., additional, Boone, Braden E., additional, Brown, Donna M., additional, Dorset, Dan C., additional, Handley, Lori H., additional, Jacob, Howard J., additional, Jones, Angela L., additional, Lazar, Jozef, additional, Levy, Shawn E., additional, Newberry, J. Scott, additional, Schroeder, Molly C., additional, Strong, Kimberly A., additional, Worthey, Elizabeth A., additional, Dayal, Jyoti G., additional, Eckstein, David J., additional, Gould, Sarah E., additional, Howerton, Ellen M., additional, Krasnewich, Donna M., additional, Loomis, Carson R., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mulvihill, John J., additional, Wise, Anastasia L., additional, Soldatos, Ariane G., additional, Brush, Matthew, additional, Gourdine, Jean-Philippe F., additional, Haendel, Melissa, additional, Koeller, David M., additional, Kyle, Jennifer E., additional, Metz, Thomas O., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Ashley, Euan A., additional, Bernstein, Jonathan A., additional, Dries, Annika M., additional, Fisher, Paul G., additional, Kohler, Jennefer N., additional, Waggott, Daryl M., additional, Wheeler, Matt T., additional, Zornio, Patricia A., additional, Allard, Patrick, additional, Barseghyan, Hayk, additional, Dell’Angelica, Esteban C., additional, Dipple, Katrina M., additional, Herzog, Matthew R., additional, Nelson, Stan F., additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Sinsheimer, Janet S., additional, Adams, Christopher J., additional, Burke, Elizabeth A., additional, Chao, Katherine R., additional, Davids, Mariska, additional, Draper, David D., additional, Estwick, Tyra, additional, Frisby, Trevor S., additional, Frost, Kate, additional, Gartner, Valerie, additional, Godfrey, Rena A., additional, Goheen, Mitchell, additional, Golas, Gretchen A., additional, Gordon, Mary “Gracie” G., additional, Groden, Catherine A., additional, Hackbarth, Mary E., additional, Hardee, Isabel, additional, Johnston, Jean M., additional, Koehler, Alanna E., additional, Latham, Lea, additional, Latour, Yvonne L., additional, Lau, C. Christopher, additional, Levy, Denise J., additional, Liebendorder, Adam P., additional, Macnamara, Ellen F., additional, Maduro, Valerie V., additional, Markello, Thomas C., additional, McCarty, Alexandra J., additional, Murphy, Jennifer L., additional, Nehrebecky, Michele E., additional, Novacic, Donna, additional, Pusey, Barbara N., additional, Sadozai, Sarah, additional, Schaffer, Katherine E., additional, Sharma, Prashant, additional, Thomas, Sara P., additional, Tolman, Nathanial J., additional, Toro, Camilo, additional, Valivullah, Zaheer M., additional, Wahl, Colleen E., additional, Warburton, Mike, additional, Weech, Alec A., additional, Yu, Guoyun, additional, Adams, David R., additional, Gahl, William A., additional, Malicdan, May Christine V., additional, Tifft, Cynthia J., additional, Wolfe, Lynne A., additional, Lee, Paul R., additional, Postlethwait, John H., additional, Westerfield, Monte, additional, Bican, Anna, additional, Hamid, Rizwan, additional, Newman, John H., additional, Phillips, John A., additional, Robertson, Amy K., additional, and Cogan, Joy D., additional

Published
2017
Full Text
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50. The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Author

Ramoni, Rachel B., primary, Mulvihill, John J., additional, Adams, David R., additional, Allard, Patrick, additional, Ashley, Euan A., additional, Bernstein, Jonathan A., additional, Gahl, William A., additional, Hamid, Rizwan, additional, Loscalzo, Joseph, additional, McCray, Alexa T., additional, Shashi, Vandana, additional, Tifft, Cynthia J., additional, Wise, Anastasia L., additional, Adams, Christopher J., additional, Alejandro, Mercedes E., additional, Azamian, Mashid S., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Barseghyan, Hayk, additional, Beggs, Alan H., additional, Bellen, Hugo J., additional, Bernick, David, additional, Bican, Anna, additional, Bick, David P., additional, Birch, Camille L., additional, Boone, Braden E., additional, Briere, Lauren C., additional, Brown, Donna M., additional, Brownstein, Catherine A., additional, Brush, Matthew, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Chao, Katherine R., additional, Clark, Gary D., additional, Cogan, Joy D., additional, Cooper, Cynthia M., additional, Craigen, William J., additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Dell’Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dipple, Katrina M., additional, Donnell-Fink, Laurel A., additional, Dorrani, Naghmeh, additional, Dorset, Daniel C., additional, Draper, David D., additional, Dries, Annika M., additional, Eastwood, Rachel, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Fisher, Paul G., additional, Frisby, Trevor S., additional, Frost, Kate, additional, Gartner, Valerie, additional, Godfrey, Rena A., additional, Goheen, Mitchell, additional, Golas, Gretchen A., additional, Goldstein, David B., additional, Gordon, Mary “Gracie” G., additional, Gould, Sarah E., additional, Gourdine, Jean-Philippe F., additional, Graham, Brett H., additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Hackbarth, Mary E., additional, Haendel, Melissa, additional, Hanchard, Neil A., additional, Handley, Lori H., additional, Hardee, Isabel, additional, Herzog, Matthew R., additional, Holm, Ingrid A., additional, Howerton, Ellen M., additional, Iglesias, Brenda, additional, Jacob, Howard J., additional, Jain, Mahim, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Koehler, Alanna E., additional, Koeller, David M., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krasnewich, Donna M., additional, Krieg, Elizabeth L., additional, Krier, Joel B., additional, Kyle, Jennifer E., additional, Lalani, Seema R., additional, Latham, Lea, additional, Latour, Yvonne L., additional, Lau, C. Christopher, additional, Lazar, Jozef, additional, Lee, Brendan H., additional, Lee, Hane, additional, Lee, Paul R., additional, Levy, Shawn E., additional, Levy, Denise J., additional, Lewis, Richard A., additional, Liebendorder, Adam P., additional, Lincoln, Sharyn A., additional, Loomis, Carson R., additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Markello, Thomas C., additional, Martin, Casey, additional, Mazur, Paul, additional, McCarty, Alexandra J., additional, McConkie-Rosell, Allyn, additional, Metz, Thomas O., additional, Might, Matthew, additional, Moretti, Paolo M., additional, Murphy, Jennifer L., additional, Muzny, Donna M., additional, Nehrebecky, Michele E., additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Orange, Jordan S., additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Pena, Loren D.M., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Ramoni, Rachel B., additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Sadozai, Sarah, additional, Schaffer, Katherine E., additional, Schoch, Kelly, additional, Schroeder, Molly C., additional, Scott, Daryl A., additional, Sharma, Prashant, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Soldatos, Ariane G., additional, Spillmann, Rebecca C., additional, Splinter, Kimberly, additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Strong, Kimberly A., additional, Sullivan, Jennifer A., additional, Sweetser, David A., additional, Thomas, Sara P., additional, Tolman, Nathanial J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Valivullah, Zaheer M., additional, Vilain, Eric, additional, Waggott, Daryl M., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Wangler, Michael F., additional, Warburton, Mike, additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Weech, Alec A., additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Wolfe, Lynne A., additional, Worthey, Elizabeth A., additional, Yamamoto, Shinya, additional, Yang, Yaping, additional, Yu, Guoyun, additional, and Zornio, Patricia A., additional

Published
2017
Full Text
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