Zobrazeno 1 - 10
of 255
pro vyhledávání: '"Stephen F Kingsmore"'
Autor:
Prashanth Vijayaraghavan, Sergey Batalov, Yan Ding, Erica Sanford, Stephen F Kingsmore, David Dimmock, Charlotte Hobbs, Matthew Bainbridge
Publikováno v:
PLoS ONE, Vol 18, Iss 1, p e0279430 (2023)
Short Tandem Repeats (STRs) have been found to play a role in a myriad of complex traits and genetic diseases. We examined the variability in the lengths of over 850,000 STR loci in 996 children with suspected genetic disorders and 1,178 parents acro
Externí odkaz:
https://doaj.org/article/40f4b5dc4d714604b4455eb64f5ce690
Autor:
Johanna M Huusko, Minna K Karjalainen, Britney E Graham, Ge Zhang, Emily G Farrow, Neil A Miller, Bo Jacobsson, Haley R Eidem, Jeffrey C Murray, Bruce Bedell, Patrick Breheny, Noah W Brown, Frans L Bødker, Nadia K Litterman, Pan-Pan Jiang, Laura Russell, David A Hinds, Youna Hu, andMe Research Team, Antonis Rokas, Kari Teramo, Kaare Christensen, Scott M Williams, Mika Rämet, Stephen F Kingsmore, Kelli K Ryckman, Mikko Hallman, Louis J Muglia
Publikováno v:
PLoS Genetics, Vol 14, Iss 9, p e1007673 (2018)
[This corrects the article DOI: 10.1371/journal.pgen.1007394.].
Externí odkaz:
https://doaj.org/article/68534e5341a74437bcb568d25963de72
Autor:
Johanna M Huusko, Minna K Karjalainen, Britney E Graham, Ge Zhang, Emily G Farrow, Neil A Miller, Bo Jacobsson, Haley R Eidem, Jeffrey C Murray, Bruce Bedell, Patrick Breheny, Noah W Brown, Frans L Bødker, Nadia K Litterman, Pan-Pan Jiang, Laura Russell, David A Hinds, Youna Hu, andMe Research Team, Antonis Rokas, Kari Teramo, Kaare Christensen, Scott M Williams, Mika Rämet, Stephen F Kingsmore, Kelli K Ryckman, Mikko Hallman, Louis J Muglia
Publikováno v:
PLoS Genetics, Vol 14, Iss 7, p e1007394 (2018)
Preterm birth is a leading cause of morbidity and mortality in infants. Genetic and environmental factors play a role in the susceptibility to preterm birth, but despite many investigations, the genetic basis for preterm birth remain largely unknown.
Externí odkaz:
https://doaj.org/article/7bdfe94f52ba4590af932ccfbe8a2c30
Autor:
Jihoon Kim, Chisato Shimizu, Stephen F Kingsmore, Narayanan Veeraraghavan, Eric Levy, Andre M Ribeiro Dos Santos, Hai Yang, Jay Flatley, Long Truong Hoang, Martin L Hibberd, Adriana H Tremoulet, Olivier Harismendy, Lucila Ohno-Machado, Jane C Burns
Publikováno v:
PLoS ONE, Vol 12, Iss 2, p e0170977 (2017)
Kawasaki disease (KD) is the most common acquired pediatric heart disease. We analyzed Whole Genome Sequences (WGS) from a 6-member African American family in which KD affected two of four children. We sought rare, potentially causative genotypes by
Externí odkaz:
https://doaj.org/article/c37075f3de744457843b0ec7f7f0ccf5
Autor:
Christopher W Woods, Micah T McClain, Minhua Chen, Aimee K Zaas, Bradly P Nicholson, Jay Varkey, Timothy Veldman, Stephen F Kingsmore, Yongsheng Huang, Robert Lambkin-Williams, Anthony G Gilbert, Alfred O Hero, Elizabeth Ramsburg, Seth Glickman, Joseph E Lucas, Lawrence Carin, Geoffrey S Ginsburg
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e52198 (2013)
There is great potential for host-based gene expression analysis to impact the early diagnosis of infectious diseases. In particular, the influenza pandemic of 2009 highlighted the challenges and limitations of traditional pathogen-based testing for
Externí odkaz:
https://doaj.org/article/dfa93b3d53ac4136ac04375cfd974d78
Autor:
Sun Hee Ahn, Ephraim L Tsalik, Derek D Cyr, Yurong Zhang, Jennifer C van Velkinburgh, Raymond J Langley, Seth W Glickman, Charles B Cairns, Aimee K Zaas, Emanuel P Rivers, Ronny M Otero, Tim Veldman, Stephen F Kingsmore, Joseph Lucas, Christopher W Woods, Geoffrey S Ginsburg, Vance G Fowler
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e48979 (2013)
Staphylococcus aureus causes a spectrum of human infection. Diagnostic delays and uncertainty lead to treatment delays and inappropriate antibiotic use. A growing literature suggests the host's inflammatory response to the pathogen represents a poten
Externí odkaz:
https://doaj.org/article/8b7bdab08eb242da8f6a8dd9d8b90b8d
Autor:
Joann Mudge, Neil A Miller, Irina Khrebtukova, Ingrid E Lindquist, Gregory D May, Jim J Huntley, Shujun Luo, Lu Zhang, Jennifer C van Velkinburgh, Andrew D Farmer, Sharon Lewis, William D Beavis, Faye D Schilkey, Selene M Virk, C Forrest Black, M Kathy Myers, Lar C Mader, Ray J Langley, John P Utsey, Ryan W Kim, Rosalinda C Roberts, Sat Kirpal Khalsa, Meredith Garcia, Victoria Ambriz-Griffith, Richard Harlan, Wendy Czika, Stanton Martin, Russell D Wolfinger, Nora I Perrone-Bizzozero, Gary P Schroth, Stephen F Kingsmore
Publikováno v:
PLoS ONE, Vol 3, Iss 11, p e3625 (2008)
Schizophrenia (SCZ) is a common, disabling mental illness with high heritability but complex, poorly understood genetic etiology. As the first phase of a genomic convergence analysis of SCZ, we generated 16.7 billion nucleotides of short read, shotgu
Externí odkaz:
https://doaj.org/article/4360517c74a24c5291d58ba756a00d2d
Autor:
Timothy W. Yu, Stephen F. Kingsmore, Robert C. Green, Tippi MacKenzie, Melissa Wasserstein, Michele Caggana, Nina B. Gold, Annie Kennedy, Priya S. Kishnani, Matthew Might, Phillip J. Brooks, Jill A. Morris, Melissa A. Parisi, Tiina K. Urv
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193:7-12
Autor:
Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C. Jones, Austin Larson, Frances Velez Bartolomei, Natalie Dykzeul, Anne Slavotinek, Tiffany Yip, Sara Bandres‐Ciga, Brittany N. Simpson, Kristen Suhrie, Suma Shankar, Regan Veith, Jennifer Bragg, Cynthia Powell, Stephen F. Kingsmore, David Dimmock, Jill Maron, Jonathan Davis, Miguel Del Campo
Publikováno v:
American Journal of Medical Genetics Part A. 191:930-940
Autor:
Stephen F. Kingsmore, Laurie D. Smith, Chris M. Kunard, Matthew Bainbridge, Sergey Batalov, Wendy Benson, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo Del Angel, David P. Dimmock, Yan Ding, Katarzyna Ellsworth, Annette Feigenbaum, Erwin Frise, Robert C. Green, Lucia Guidugli, Kevin P. Hall, Christian Hansen, Charlotte A. Hobbs, Scott D. Kahn, Mark Kiel, Lucita Van Der Kraan, Chad Krilow, Yong H. Kwon, Lakshminarasimha Madhavrao, Jennie Le, Sebastien Lefebvre, Rebecca Mardach, William R. Mowrey, Danny Oh, Mallory J. Owen, George Powley, Gunter Scharer, Seth Shelnutt, Mari Tokita, Shyamal S. Mehtalia, Albert Oriol, Stavros Papadopoulos, James Perry, Edwin Rosales, Erica Sanford, Steve Schwartz, Duke Tran, Martin G. Reese, Meredith Wright, Narayanan Veeraraghavan, Kristen Wigby, Mary J. Willis, Aaron R. Wolen, Thomas Defay.
Publikováno v:
American journal of human genetics, vol 109, iss 9
Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders by treatment before symptom onset. In many genetic diseases, however, outcomes remain poor because NBS has lagged behind drug development. Rapid whole-genome sequenc