Search

Your search keyword '"Buchanan, Janet A."' showing total 42 results
Start Over Author "Buchanan, Janet A."
42 results on '"Buchanan, Janet A."'

1. A framework for an evidence-based gene list relevant to autism spectrum disorder

Author

Schaaf, Christian P., Betancur, Catalina, Yuen, Ryan K. C., Parr, Jeremy R., Skuse, David H., Gallagher, Louise, Bernier, Raphael A., Buchanan, Janet A., Buxbaum, Joseph D., Chen, Chun-An, Dies, Kira A., Elsabbagh, Mayada, Firth, Helen V., Frazier, Thomas, Hoang, Ny, Howe, Jennifer, Marshall, Christian R., Michaud, Jacques L., Rennie, Olivia, Szatmari, Peter, Chung, Wendy K., Bolton, Patrick F., Cook, Edwin H., Scherer, Stephen W., and Vorstman, Jacob A. S.

Published
2020
Full Text
View/download PDF

2. A large data resource of genomic copy number variation across neurodevelopmental disorders

Author

Zarrei, Mehdi, Burton, Christie L., Engchuan, Worrawat, Young, Edwin J., Higginbotham, Edward J., MacDonald, Jeffrey R., Trost, Brett, Chan, Ada J. S., Walker, Susan, Lamoureux, Sylvia, Heung, Tracy, Mojarad, Bahareh A., Kellam, Barbara, Paton, Tara, Faheem, Muhammad, Miron, Karin, Lu, Chao, Wang, Ting, Samler, Kozue, Wang, Xiaolin, Costain, Gregory, Hoang, Ny, Pellecchia, Giovanna, Wei, John, Patel, Rohan V., Thiruvahindrapuram, Bhooma, Roifman, Maian, Merico, Daniele, Goodale, Tara, Drmic, Irene, Speevak, Marsha, Howe, Jennifer L., Yuen, Ryan K. C., Buchanan, Janet A., Vorstman, Jacob A. S., Marshall, Christian R., Wintle, Richard F., Rosenberg, David R., Hanna, Gregory L., Woodbury-Smith, Marc, Cytrynbaum, Cheryl, Zwaigenbaum, Lonnie, Elsabbagh, Mayada, Flanagan, Janine, Fernandez, Bridget A., Carter, Melissa T., Szatmari, Peter, Roberts, Wendy, Lerch, Jason, Liu, Xudong, Nicolson, Rob, Georgiades, Stelios, Weksberg, Rosanna, Arnold, Paul D., Bassett, Anne S., Crosbie, Jennifer, Schachar, Russell, Stavropoulos, Dimitri J., Anagnostou, Evdokia, and Scherer, Stephen W.

Published
2019
Full Text
View/download PDF

4. The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

Author

Reuter, Miriam S., Walker, Susan, Thiruvahindrapuram, Bhooma, Whitney, Joe, Cohn, Iris, Sondheimer, Neal, Yuen, Ryan K.C., Trost, Brett, Paton, Tara A., Pereira, Sergio L., Herbrick, Jo-Anne, Wintle, Richard F., Merico, Daniele, Howe, Jennifer, MacDonald, Jeffrey R., Lu, Chao, Nalpathamkalam, Thomas, Sung, Wilson W.L., Wang, Zhuozhi, Patel, Rohan V., Pellecchia, Giovanna, Wei, John, Strug, Lisa J., Bell, Sherilyn, Kellam, Barbara, Mahtani, Melanie M., Bassett, Anne S., Bombard, Yvonne, Weksberg, Rosanna, Shuman, Cheryl, Cohn, Ronald D., Stavropoulos, Dimitri J., Bowdin, Sarah, Hildebrandt, Matthew R., Wei, Wei, Romm, Asli, Pasceri, Peter, Ellis, James, Ray, Peter, Meyn, M. Stephen, Monfared, Nasim, Hosseini, S. Mohsen, Joseph-George, Ann M., Keeley, Fred W., Cook, Ryan A., Fiume, Marc, Lee, Hin C., Marshall, Christian R., Davies, Jill, Hazell, Allison, Buchanan, Janet A., Szego, Michael J., and Scherer, Stephen W.

Subjects
Analysis, Health policy -- Analysis, DNA sequencing -- Analysis, Pharmacogenomics -- Analysis
Abstract

Rapid technological advances are enabling a view of human genetic variation in ever-increasing detail and at plummeting costs. (1) Until recently, analysis has been targeted largely to defined genes, but [...], BACKGROUND: The Personal Genome Project Canada is a comprehensive public data resource that integrates whole genome sequencing data and health information. We describe genomic variation identified in the initial recruitment cohort of 56 volunteers. METHODS: Volunteers were screened for eligibility and provided informed consent for open data sharing. Using blood DNA, we performed whole genome sequencing and identified all possible classes of DNA variants. A genetic counsellor explained the implication of the results to each participant. RESULTS: Whole genome sequencing of the first 56 participants identified 207662 805 sequence variants and 27494 copy number variations. We analyzed a prioritized disease-associated data set (n = 1606 variants) according to standardized guidelines, and interpreted 19 variants in 14 participants (25%) as having obvious health implications. Six of these variants (e.g., in BRCA1 or mosaic loss of an X chromosome) were pathogenic or likely pathogenic. Seven were risk factors for cancer, cardiovascular or neurobehavioural conditions. Four other variants--associated with cancer, cardiac or neurodegenerative phenotypes--remained of uncertain significance because of discrepancies among databases. We also identified a large structural chromosome aberration and a likely pathogenic mitochondrial variant. There were 172 recessive disease alleles (e.g., 5 individuals carried mutations for cystic fibrosis). Pharmacogenomics analyses revealed another 3.9 potentially relevant genotypes per individual. INTERPRETATION: Our analyses identified a spectrum of genetic variants with potential health impact in 25% of participants. When also considering recessive alleles and variants with potential pharmacologic relevance, all 56 participants had medically relevant findings. Although access is mostly limited to research, whole genome sequencing can provide specific and novel information with the potential of major impact for health care.

Published
2018
Full Text
View/download PDF

6. Case Study Contributors

Author

Applegate, Carolyn Dinsmore, Biesecker, Leslie G., Buchanan, Janet A., Carcao, Manuel, Christodoulou, John, Cohn, Iris, Cohn, Ronald Doron, Fahrner, Jill A., Finch, Amy, George-Hyslop, Peter St, Gulati, Ashima, Guthrie, Kelsey, Hamilton, Robert, Hamosh, Ada, Hegele, Robert A., Hitzler, Johann, Hoover-Fong, Julie, Kim, Alexander Y., Kruszka, Paul, Lillicrap, David, Lupski, James R., Mahmud, Farid, Malkin, David, Mallipatna, Ashwin, Martin, Donna, Miller, Kristen, Mu, Weiyi, Narod, Steven, Odame, Isaac, Ours, Christopher A., Pearson, Christopher, Peng, Xiao P., Raraigh, Karen, Rehm, Heidi L., Reuter, Miriam, Roifman, Maian, Roifman, Chaim M., Schatz, Krista, Shoubridge, Eric, Singh, Mandeep, Skuse, David, Thompson, Marisa Gilstrop, Tifft, Cynthia J., Toomey, Christopher B., Vorstman, Jacob A.S., Watnick, Terry J., Weksberg, Rosanna, Wolstencroft, Jeanne, Xiao, Changrui, and Ziegler, Shira G.

Published
2024
Full Text
View/download PDF

9. Autism spectrum disorder: advances in evidence-based practice

Author

Anagnostou, Evdokia, Zwaigenbaum, Lonnie, Szatmari, Peter, Fombonne, Eric, Fernandez, Bridget A., Woodbury-Smith, Marc, Brian, Jessica, Bryson, Susan, Smith, Isabel M., Drmic, Irene, Buchanan, Janet A., Roberts, Wendy, and Scherer, Stephen W.

Subjects
Diagnosis, Care and treatment, Development and progression, Evidence-based medicine, Pervasive developmental disorders -- Diagnosis -- Care and treatment -- Development and progression
Abstract

Autism spectrum disorder (ASD) encompasses wide variation in symptom severity and functional impact. The core features of ASD include impairments in social communication, repetitive behaviours and restricted interests. Not all [...]

Published
2014
Full Text
View/download PDF

13. Transporters in Drug Development: 2018 ITC Recommendations for Transporters of Emerging Clinical Importance

Author

Zamek-Gliszczynski, Maciej J., Taub, Mitchell E., Chothe, Paresh P., Chu, Xiaoyan, Giacomini, Kathleen M., Kim, Richard B., Ray, Adrian S., Stocker, Sophie L., Bingham, Jashvant D., Wang, Zhuozhi, Pellecchia, Giovanna, Buchanan, Janet A., Walker, Susan, Marshall, Christian R., Uddin, Mohammed, Zarrei, Mehdi, Deneault, Eric, D'Abate, Lia, Chan, Ada J.S., Koyanagi, Stephanie, Paton, Tara, Pereira, Sergio L., Hoang, Ny, Engchuan, Worrawat, Higginbotham, Edward J., and Ho, Karen

Subjects
0301 basic medicine, Organ function, Pharmacology, 030226 pharmacology & pharmacy, Models, Biological, Risk Assessment, Prospective evaluation, Article, 03 medical and health sciences, 0302 clinical medicine, Vitamin deficiency, Drug Development, Membrane Transport Modulators, medicine, Animals, Humans, Pharmacology (medical), Drug Interactions, Pharmacokinetics, Organic cation transport proteins, biology, business.industry, Membrane Transport Proteins, Transporter, medicine.disease, Organic anion-transporting polypeptide, 030104 developmental biology, Drug development, Pharmaceutical Preparations, biology.protein, business
Abstract

This white paper provides updated International Transporter Consortium (ITC) recommendations on transporters that are important in drug development following the 3rd ITC workshop. New additions include prospective evaluation of organic cation transporter 1 (OCT1) and retrospective evaluation of organic anion transporting polypeptide (OATP)2B1 because of their important roles in drug absorption, disposition, and effects. For the first time, the ITC underscores the importance of transporters involved in drug-induced vitamin deficiency (THTR2) and those involved in the disposition of biomarkers of organ function (OAT2 and bile acid transporters).

Published
2018

14. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Author

Yuen, Ryan K C, Merico, Daniele, Bookman, Matt, Howe, Jennifer L., Thiruvahindrapuram, Bhooma, Patel, Rohan V., Whitney, Joe, Deflaux, Nicole, Bingham, Jonathan, Wang, Zhuozhi, Pellecchia, Giovanna, Buchanan, Janet A., Walker, Susan, Marshall, Christian R., Uddin, Mohammed, Zarrei, Mehdi, Deneault, Eric, D'Abate, Lia, Chan, Ada J S, Koyanagi, Stephanie, Paton, Tara, Pereira, Sergio L., Hoang, Ny, Engchuan, Worrawat, Higginbotham, Edward J., Ho, Karen, Lamoureux, Sylvia, Li, Weili, MacDonald, Jeffrey R., Nalpathamkalam, Thomas, Sung, Wilson W L, Tsoi, Fiona J., Wei, John, Xu, Lizhen, Tasse, Anne Marie, Kirby, Emily, Van Etten, William, Twigger, Simon, Roberts, Wendy, Drmic, Irene, Jilderda, Sanne, Modi, Bonnie Mackinnon, Kellam, Barbara, Szego, Michael, Cytrynbaum, Cheryl, Weksberg, Rosanna, Zwaigenbaum, Lonnie, Woodbury-Smith, Marc, Brian, Jessica, Senman, Lili, Iaboni, Alana, Doyle-Thomas, Krissy, Thompson, Ann, Chrysler, Christina, Leef, Jonathan, Savion-Lemieux, Tal, Smith, Isabel M., Liu, Xudong, Nicolson, Rob, Seifer, Vicki, Fedele, Angie, Cook, Edwin H., Dager, Stephen, Estes, Annette, Gallagher, Louise, Malow, Beth A., Parr, Jeremy R., Spence, Sarah J., Vorstman, Jacob, Frey, Brendan J., Robinson, James T., Strug, Lisa J., Fernandez, Bridget A., Elsabbagh, Mayada, Carter, Melissa T., Hallmayer, Joachim, Knoppers, Bartha M., Anagnostou, Evdokia, Szatmari, Peter, Ring, Robert H., Glazer, David, Pletcher, Mathew T., and Scherer, Stephen W.

Subjects
Neuroscience(all), Next-generation sequencing, Journal Article, Autism spectrum disorders
Abstract

We are performing whole-genome sequencing of families with autism spectrum disorder (ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic factors involved. Here we report sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal. We found an average of 73.8 de novo single nucleotide variants and 12.6 de novo insertions and deletions or copy number variations per ASD subject. We identified 18 new candidate ASD-risk genes and found that participants bearing mutations in susceptibility genes had significantly lower adaptive ability (P = 6 × 10-4). In 294 of 2,620 (11.2%) of ASD cases, a molecular basis could be determined and 7.2% of these carried copy number variations and/or chromosomal abnormalities, emphasizing the importance of detecting all forms of genetic variation as diagnostic and therapeutic targets in ASD.

Published
2017

15. Additional file 1: of Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation

Author

Gazzellone, Matthew, Zarrei, Mehdi, Burton, Christie, Walker, Susan, Uddin, Mohammed, S. Shaheen, Coste, Julie, Rageen Rajendram, Schachter, Reva, Colasanto, Marlena, Hanna, Gregory, Rosenberg, David, Soreni, Noam, Fitzgerald, Kate, Marshall, Christian, Buchanan, Janet, Merico, Daniele, Arnold, Paul, and Scherer, Stephen

Abstract

Supplementary Information. (DOCX 292Â kb)

Published
2016
Full Text
View/download PDF

16. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Author

C Yuen, Ryan K, primary, Merico, Daniele, additional, Bookman, Matt, additional, L Howe, Jennifer, additional, Thiruvahindrapuram, Bhooma, additional, Patel, Rohan V, additional, Whitney, Joe, additional, Deflaux, Nicole, additional, Bingham, Jonathan, additional, Wang, Zhuozhi, additional, Pellecchia, Giovanna, additional, Buchanan, Janet A, additional, Walker, Susan, additional, Marshall, Christian R, additional, Uddin, Mohammed, additional, Zarrei, Mehdi, additional, Deneault, Eric, additional, D'Abate, Lia, additional, Chan, Ada J S, additional, Koyanagi, Stephanie, additional, Paton, Tara, additional, Pereira, Sergio L, additional, Hoang, Ny, additional, Engchuan, Worrawat, additional, Higginbotham, Edward J, additional, Ho, Karen, additional, Lamoureux, Sylvia, additional, Li, Weili, additional, MacDonald, Jeffrey R, additional, Nalpathamkalam, Thomas, additional, Sung, Wilson W L, additional, Tsoi, Fiona J, additional, Wei, John, additional, Xu, Lizhen, additional, Tasse, Anne-Marie, additional, Kirby, Emily, additional, Van Etten, William, additional, Twigger, Simon, additional, Roberts, Wendy, additional, Drmic, Irene, additional, Jilderda, Sanne, additional, Modi, Bonnie MacKinnon, additional, Kellam, Barbara, additional, Szego, Michael, additional, Cytrynbaum, Cheryl, additional, Weksberg, Rosanna, additional, Zwaigenbaum, Lonnie, additional, Woodbury-Smith, Marc, additional, Brian, Jessica, additional, Senman, Lili, additional, Iaboni, Alana, additional, Doyle-Thomas, Krissy, additional, Thompson, Ann, additional, Chrysler, Christina, additional, Leef, Jonathan, additional, Savion-Lemieux, Tal, additional, Smith, Isabel M, additional, Liu, Xudong, additional, Nicolson, Rob, additional, Seifer, Vicki, additional, Fedele, Angie, additional, Cook, Edwin H, additional, Dager, Stephen, additional, Estes, Annette, additional, Gallagher, Louise, additional, Malow, Beth A, additional, Parr, Jeremy R, additional, Spence, Sarah J, additional, Vorstman, Jacob, additional, Frey, Brendan J, additional, Robinson, James T, additional, Strug, Lisa J, additional, Fernandez, Bridget A, additional, Elsabbagh, Mayada, additional, Carter, Melissa T, additional, Hallmayer, Joachim, additional, Knoppers, Bartha M, additional, Anagnostou, Evdokia, additional, Szatmari, Peter, additional, Ring, Robert H, additional, Glazer, David, additional, Pletcher, Mathew T, additional, and Scherer, Stephen W, additional

Published
2017
Full Text
View/download PDF

17. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Author

Onderzoek, Brain, Yuen, Ryan K C, Merico, Daniele, Bookman, Matt, Howe, Jennifer L., Thiruvahindrapuram, Bhooma, Patel, Rohan V., Whitney, Joe, Deflaux, Nicole, Bingham, Jonathan, Wang, Zhuozhi, Pellecchia, Giovanna, Buchanan, Janet A., Walker, Susan, Marshall, Christian R., Uddin, Mohammed, Zarrei, Mehdi, Deneault, Eric, D'Abate, Lia, Chan, Ada J S, Koyanagi, Stephanie, Paton, Tara, Pereira, Sergio L., Hoang, Ny, Engchuan, Worrawat, Higginbotham, Edward J., Ho, Karen, Lamoureux, Sylvia, Li, Weili, MacDonald, Jeffrey R., Nalpathamkalam, Thomas, Sung, Wilson W L, Tsoi, Fiona J., Wei, John, Xu, Lizhen, Tasse, Anne Marie, Kirby, Emily, Van Etten, William, Twigger, Simon, Roberts, Wendy, Drmic, Irene, Jilderda, Sanne, Modi, Bonnie Mackinnon, Kellam, Barbara, Szego, Michael, Cytrynbaum, Cheryl, Weksberg, Rosanna, Zwaigenbaum, Lonnie, Woodbury-Smith, Marc, Brian, Jessica, Senman, Lili, Iaboni, Alana, Doyle-Thomas, Krissy, Thompson, Ann, Chrysler, Christina, Leef, Jonathan, Savion-Lemieux, Tal, Smith, Isabel M., Liu, Xudong, Nicolson, Rob, Seifer, Vicki, Fedele, Angie, Cook, Edwin H., Dager, Stephen, Estes, Annette, Gallagher, Louise, Malow, Beth A., Parr, Jeremy R., Spence, Sarah J., Vorstman, Jacob, Frey, Brendan J., Robinson, James T., Strug, Lisa J., Fernandez, Bridget A., Elsabbagh, Mayada, Carter, Melissa T., Hallmayer, Joachim, Knoppers, Bartha M., Anagnostou, Evdokia, Szatmari, Peter, Ring, Robert H., Glazer, David, Pletcher, Mathew T., Scherer, Stephen W., Onderzoek, Brain, Yuen, Ryan K C, Merico, Daniele, Bookman, Matt, Howe, Jennifer L., Thiruvahindrapuram, Bhooma, Patel, Rohan V., Whitney, Joe, Deflaux, Nicole, Bingham, Jonathan, Wang, Zhuozhi, Pellecchia, Giovanna, Buchanan, Janet A., Walker, Susan, Marshall, Christian R., Uddin, Mohammed, Zarrei, Mehdi, Deneault, Eric, D'Abate, Lia, Chan, Ada J S, Koyanagi, Stephanie, Paton, Tara, Pereira, Sergio L., Hoang, Ny, Engchuan, Worrawat, Higginbotham, Edward J., Ho, Karen, Lamoureux, Sylvia, Li, Weili, MacDonald, Jeffrey R., Nalpathamkalam, Thomas, Sung, Wilson W L, Tsoi, Fiona J., Wei, John, Xu, Lizhen, Tasse, Anne Marie, Kirby, Emily, Van Etten, William, Twigger, Simon, Roberts, Wendy, Drmic, Irene, Jilderda, Sanne, Modi, Bonnie Mackinnon, Kellam, Barbara, Szego, Michael, Cytrynbaum, Cheryl, Weksberg, Rosanna, Zwaigenbaum, Lonnie, Woodbury-Smith, Marc, Brian, Jessica, Senman, Lili, Iaboni, Alana, Doyle-Thomas, Krissy, Thompson, Ann, Chrysler, Christina, Leef, Jonathan, Savion-Lemieux, Tal, Smith, Isabel M., Liu, Xudong, Nicolson, Rob, Seifer, Vicki, Fedele, Angie, Cook, Edwin H., Dager, Stephen, Estes, Annette, Gallagher, Louise, Malow, Beth A., Parr, Jeremy R., Spence, Sarah J., Vorstman, Jacob, Frey, Brendan J., Robinson, James T., Strug, Lisa J., Fernandez, Bridget A., Elsabbagh, Mayada, Carter, Melissa T., Hallmayer, Joachim, Knoppers, Bartha M., Anagnostou, Evdokia, Szatmari, Peter, Ring, Robert H., Glazer, David, Pletcher, Mathew T., and Scherer, Stephen W.

Published
2017

18. De NovoGenome and Transcriptome Assembly of the Canadian Beaver (Castor canadensis)

Author

Lok, Si, primary, Paton, Tara A, additional, Wang, Zhuozhi, additional, Kaur, Gaganjot, additional, Walker, Susan, additional, Yuen, Ryan K C, additional, Sung, Wilson W L, additional, Whitney, Joseph, additional, Buchanan, Janet A, additional, Trost, Brett, additional, Singh, Naina, additional, Apresto, Beverly, additional, Chen, Nan, additional, Coole, Matthew, additional, Dawson, Travis J, additional, Ho, Karen, additional, Hu, Zhizhou, additional, Pullenayegum, Sanjeev, additional, Samler, Kozue, additional, Shipstone, Arun, additional, Tsoi, Fiona, additional, Wang, Ting, additional, Pereira, Sergio L, additional, Rostami, Pirooz, additional, Ryan, Carol Ann, additional, Tong, Amy Hin Yan, additional, Ng, Karen, additional, Sundaravadanam, Yogi, additional, Simpson, Jared T, additional, Lim, Burton K, additional, Engstrom, Mark D, additional, Dutton, Christopher J, additional, Kerr, Kevin C R, additional, Franke, Maria, additional, Rapley, William, additional, Wintle, Richard F, additional, and Scherer, Stephen W, additional

Published
2017
Full Text
View/download PDF

19. Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation

Author

Gazzellone, Matthew J., primary, Zarrei, Mehdi, additional, Burton, Christie L., additional, Walker, Susan, additional, Uddin, Mohammed, additional, Shaheen, S. M., additional, Coste, Julie, additional, Rajendram, Rageen, additional, Schachter, Reva J., additional, Colasanto, Marlena, additional, Hanna, Gregory L., additional, Rosenberg, David R., additional, Soreni, Noam, additional, Fitzgerald, Kate D., additional, Marshall, Christian R., additional, Buchanan, Janet A., additional, Merico, Daniele, additional, Arnold, Paul D., additional, and Scherer, Stephen W., additional

Published
2016
Full Text
View/download PDF

20. Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

Author

Uddin, Mohammed, primary, Pellecchia, Giovanna, additional, Thiruvahindrapuram, Bhooma, additional, D’Abate, Lia, additional, Merico, Daniele, additional, Chan, Ada, additional, Zarrei, Mehdi, additional, Tammimies, Kristiina, additional, Walker, Susan, additional, Gazzellone, Matthew J., additional, Nalpathamkalam, Thomas, additional, Yuen, Ryan K. C., additional, Devriendt, Koenraad, additional, Mathonnet, Géraldine, additional, Lemyre, Emmanuelle, additional, Nizard, Sonia, additional, Shago, Mary, additional, Joseph-George, Ann M., additional, Noor, Abdul, additional, Carter, Melissa T., additional, Yoon, Grace, additional, Kannu, Peter, additional, Tihy, Frédérique, additional, Thorland, Erik C., additional, Marshall, Christian R., additional, Buchanan, Janet A., additional, Speevak, Marsha, additional, Stavropoulos, Dimitri J., additional, and Scherer, Stephen W., additional

Published
2016
Full Text
View/download PDF

23. Research Ethics Recommendations for Whole Genome Research: Consensus Statement

Author

Caulfield, Timothy, McGuire, Amy L., Cho, Mildred, Buchanan, Janet A., Burgess, Michael M., Danilczyk, Ursula, Diaz, Christina M., Fryer-Edwards, Kelly, Green, Shane K., Hodosh, Marc A., Juengst, Eric T., Kaye, Jane, Kedes, Laurence, Knoppers, Bartha M., Lemmens, Trudo, Meslin, Eric M., Murphy, Juli, Nussbaum, Robert L., Otlowski, Margaret, Pullman, Daryl, Ray, Peter N., Sugarman, Jeremy, and Timmons, Michael

Published
2008
Full Text
View/download PDF

25. The cycle of genome-directed medicine

Author

Buchanan, Janet A, primary, Carson, Andrew R, additional, Chitayat, David, additional, Malkin, David, additional, Meyn, M Stephen, additional, Ray, Peter N, additional, Shuman, Cheryl, additional, Weksberg, Rosanna, additional, and Scherer, Stephen W, additional

Published
2009
Full Text
View/download PDF

26. Research Ethics Recommendations for Whole-Genome Research: Consensus Statement

Author

Caulfield, Timothy, primary, McGuire, Amy L, additional, Cho, Mildred, additional, Buchanan, Janet A, additional, Burgess, Michael M, additional, Danilczyk, Ursula, additional, Diaz, Christina M, additional, Fryer-Edwards, Kelly, additional, Green, Shane K, additional, Hodosh, Marc A, additional, Juengst, Eric T, additional, Kaye, Jane, additional, Kedes, Laurence, additional, Knoppers, Bartha Maria, additional, Lemmens, Trudo, additional, Meslin, Eric M, additional, Murphy, Juli, additional, Nussbaum, Robert L, additional, Otlowski, Margaret, additional, Pullman, Daryl, additional, Ray, Peter N, additional, Sugarman, Jeremy, additional, and Timmons, Michael, additional

Published
2008
Full Text
View/download PDF

29. Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population

Author

Goldberg, Y.Paul, primary, McMurray, Cynthia T., additional, Zeisier, Jutta, additional, Almqvist, Elisabeth, additional, Sillence, David, additional, Richards, Flona, additional, Gacy, A.Marquis, additional, Buchanan, Janet, additional, Telenius, Hâkan, additional, and Hayden, Michael, additional

Published
1995
Full Text
View/download PDF

31. LETTERS.

Author

Buchanan, Janet, Nieland-Fisher, Nancy S., Moscicki, Anna-Barbara, Hills, Nancy K., Darragh, Terry, Shiboski, Steve, Macy, Eric, Whitmore, S. Elizabeth, Salkind, Alan R., Cuddy, Paul G., Foxworth, John W., Cunningham, Janet, Doerr, Thomas D., Walter, Louise C., Covinsky, Kenneth E., Hlaing, WayWay M., Mitchell, Kimberly J., Finkelhor, David, Wolak, Janis, and Tsubono, Yoshitaka

Subjects
*MEDICINE, *PAPILLOMAVIRUSES, *HEALTH of older people, *CHILD sexual abuse
Abstract

Presents letters to the editor. Role of immune function in human papillomavirus infection (HPV); Response to an article regarding approaches to discussing cancer screening with elderly patients; Mention of a study of sexual solicitation of youth on the Internet; Others.

Published
2001

32. Studying Your Breed Through Art.

Author

Buchanan, Janet Leslie

Subjects
DOGS in art, DOG breeds, SALUKI, PAINTING
Abstract

The article provides information on several artworks that feature different dog breeds. One of the best images of the Saluki is a painting by James Ward titled "Saluki or Persian Greyhound. The painting "Queen Victoria's Pets," by Sir Edwin Landseer includes the Scottish Deerhound Luath, the Greyhound Eos and the King Charles Spaniel Dash.

Published
2007

33. Transformed sweat gland and nasal epithelial cell lines from control and cystic fibrosis individuals

Author

Buchanan, Janet A., Yeger, Herman, Tabcharani, Joseph A., Jensen, Timothy J., Auerbach, Wojtek, Hanrahan, John W., Riodan, John R., and Buchwald, Manuel

Abstract

We undertook to extend the in vitro lifespan of epithelial cell cultures useful for the study of the cellular defect underlying cystic fibrosis (CF). Primary cultures from sweat glands of four CF and four non-CF and from nasal polyps of one non-CF and two CF individuals were transformed using a chimaeric virus, Ad5/SV40 1613 ori−. The extended lifespans ranged from 20 to more than 250 population doublings beyond that of the primary cultures. Despite some degree of aneuploidy (as assayed by total cellular DNA content) all samples tested retained at least one copy of the region of chromosome 7 containing the CF gene (as assayed by probing with flanking DNA markers). Epithelial characteristics, including an epithelioid morphology, tight junctions and desmosomes, apical microvilli, keratin networks, and dome formation were positive in the majority of cells examined, although variably expressed. All cells tested demonstrated outwardly rectifying chloride channels by patch clamp, with some from non-CF cells responsive to the catalytic subunit of cyclic AMPdependent protein kinase. The cells were used for DNA transfection assays with selectable marker genes in appropriate vectors, in order to develop methodology for assaying the function of the CF gene product and the effects of mutations.

Published
1990
Full Text
View/download PDF

34. Huntington’s chorea and schizophrenia : amino acids in thalamus

Author

Buchanan, Janet Ann

Subjects
nervous system
Abstract

Amino acids and other ninhydrin-positive compounds were measured in post-mortem thalamus from 25 Huntington's choreics, 10 schizophrenics, 5 schizophrenic-like psychotics, and 23 controls dying without neurological disease. Gamma-aminobutyric acid (GABA) was significantly reduced in choreic thalami, in accord with deficiencies found in other brain regions choreics (Perry et al., 1973a,b). GABA was also significantly reduced in schizophrenic thalami, suggesting a biochemical link between these two diseases, and supporting the hypothesis of a defect in the GABA system in schizophrenia (Roberts, 1972). Homocarnosine, a GABA-containing dipeptide, was also low in choreic and 9 out of 10 schizophrenic thalami. One schizophrenic had extremely high homocarnosine. Glycerophosphoethanolamine was significantly elevated in Huntington's choreics, but not in schizophrenics. A number of other variables were considered for their potential influence on amino acid concentrations in thalamus. The majority of amino acids were found to rise in a significantly linear fashion in the interval 3 to 49 hours post-mortem, although other models might have described the change better. GABA, ornithine, histidine and tyrosine were found to decrease significantly with increasing age between 21 and 80 years, in controls. The effects of pre-mortem hypoxia, regional variation within the thalamus, and neuroleptic drug treatment could not be rigorously tested with these data. Neuroleptics were unlikely to have been the cause of group differences in GABA concentration, since they failed to deplete GABA in brain of chronically treated rats. On the other hand, bronchopneumonia and other causes of pre-mortem hypoxia could not be ruled out as potential contributers to reduced GABA in thalamus.

Published
1978
Full Text
View/download PDF

40. COMMENTS AND OPINIONSDocumented Responses From Patients Regarding Warts and Current Therapy.

Author

Buchanan, Janet and Nieland-Fisher, Nancy S.

Subjects
WARTS, SKIN infections, CANDIDA, MUMPS, INJECTIONS, THERAPEUTICS
Abstract

Comments on Ciconte and colleagues' documentation of the morbidity related to warts, both from the effect of having the warts alone and the effect of treatment of patients who had sought in the past. Description of the morbidity observed in the study; Emphasis on the need for further investigations regarding intralesional injections of Candida and mumps into warts and common duct tape with and without topical agents.

Published
2004
Full Text
View/download PDF

41. De Novo Genome and Transcriptome Assembly of the Canadian Beaver (Castor canadensis).

Author

Si Lok, Paton, Tara A., Zhuozhi Wang, Kaur, Gaganjot, Walker, Susan, Yuen, Ryan K. C., Sung, Wilson W. L., Whitney, Joseph, Buchanan, Janet A., Trost, Brett, Singh, Naina, Apresto, Beverly, Nan Chen, Coole, Matthew, Dawson, Travis J., Ho, Karen, Zhizhou Hu, Pullenayegum, Sanjeev, Samler, Kozue, and Shipstone, Arun

Subjects
*AMERICAN beaver, *LEUCOCYTES, *GENOMES
Abstract

The Canadian beaver (Castor canadensis) is the largest indigenous rodent in North America. We report a draft annotated assembly of the beaver genome, the first for a large rodent and the first mammalian genome assembled directly from uncorrected and moderate coverage (<30 x) long reads generated by single-molecule sequencing. The genome size is 2.7 Gb estimated by k-mer analysis. We assembled the beaver genome using the new Canu assembler optimized for noisy reads. The resulting assembly was refined using Pilon supported by short reads (80 x) and checked for accuracy by congruency against an independent short read assembly. We scaffolded the assembly using the exon-gene models derived from 9805 full-length open reading frames (FL-ORFs) constructed from the beaver leukocyte and muscle transcriptomes. The final assembly comprised 22,515 contigs with an N50 of 278,680 bp and an N50-scaffold of 317,558 bp. Maximum contig and scaffold lengths were 3.3 and 4.2 Mb, respectively, with a combined scaffold length representing 92% of the estimated genome size. The completeness and accuracy of the scaffold assembly was demonstrated by the precise exon placement for 91.1% of the 9805 assembled FL-ORFs and 83.1% of the BUSCO (Benchmarking Universal Single-Copy Orthologs) gene set used to assess the quality of genome assemblies. Well-represented were genes involved in dentition and enamel deposition, defining characteristics of rodents with which the beaver is well-endowed. The study provides insights for genome assembly and an important genomics resource for Castoridae and rodent evolutionary biology. [ABSTRACT FROM AUTHOR]

Published
2017
Full Text
View/download PDF

42. Building trust in 21st century genomics.

Author

Szego MJ, Buchanan JA, and Scherer SW

Subjects
Databases, Genetic ethics, Genomics history, Genomics trends, HeLa Cells, History, 21st Century, Humans, Databases, Genetic legislation & jurisprudence, Genomics legislation & jurisprudence
Published
2013
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results