Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Sergey, Batalov"'
Autor:
Yan Ding, Mallory Owen, Jennie Le, Sergey Batalov, Kevin Chau, Yong Hyun Kwon, Lucita Van Der Kraan, Zaira Bezares-Orin, Zhanyang Zhu, Narayanan Veeraraghavan, Shareef Nahas, Matthew Bainbridge, Joe Gleeson, Rebecca J. Baer, Gretchen Bandoli, Christina Chambers, Stephen F. Kingsmore
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-9 (2023)
Abstract Universal newborn screening (NBS) is a highly successful public health intervention. Archived dried bloodspots (DBS) collected for NBS represent a rich resource for population genomic studies. To fully harness this resource in such studies,
Externí odkaz:
https://doaj.org/article/d52683be3c8840f3a3efba386f5f9b2e
Autor:
Mallory J. Owen, Sebastien Lefebvre, Christian Hansen, Chris M. Kunard, David P. Dimmock, Laurie D. Smith, Gunter Scharer, Rebecca Mardach, Mary J. Willis, Annette Feigenbaum, Anna-Kaisa Niemi, Yan Ding, Luca Van Der Kraan, Katarzyna Ellsworth, Lucia Guidugli, Bryan R. Lajoie, Timothy K. McPhail, Shyamal S. Mehtalia, Kevin K. Chau, Yong H. Kwon, Zhanyang Zhu, Sergey Batalov, Shimul Chowdhury, Seema Rego, James Perry, Mark Speziale, Mark Nespeca, Meredith S. Wright, Martin G. Reese, Francisco M. De La Vega, Joe Azure, Erwin Frise, Charlene Son Rigby, Sandy White, Charlotte A. Hobbs, Sheldon Gilmer, Gail Knight, Albert Oriol, Jerica Lenberg, Shareef A. Nahas, Kate Perofsky, Kyu Kim, Jeanne Carroll, Nicole G. Coufal, Erica Sanford, Kristen Wigby, Jacqueline Weir, Vicki S. Thomson, Louise Fraser, Seka S. Lazare, Yoon H. Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew Gross, Patrick Daigle, Anne Case, Marisa Lue, James A. Richardson, John Reynders, Thomas Defay, Kevin P. Hall, Narayanan Veeraraghavan, Stephen F. Kingsmore
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
Rapid diagnosis and implementation of treatments is crucial in many genetic conditions. Here the authors describe Genome-to-Treatment, a virtual disease management system that can achieve a rapid diagnosis by expedited whole genome sequencing in 13.5
Externí odkaz:
https://doaj.org/article/c8a8f4d045b24f4586c6fb67d44e877e
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:
Nathaly M. Sweeney, Shareef A. Nahas, Sh. Chowdhury, Sergey Batalov, Michelle Clark, Sara Caylor, Julie Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte Hobbs, David Dimmock, Stephen F. Kingsmore
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract Congenital heart disease (CHD) is the most common congenital anomaly and a major cause of infant morbidity and mortality. While morbidity and mortality are highest in infants with underlying genetic conditions, molecular diagnoses are ascert
Externí odkaz:
https://doaj.org/article/9e711bd54acf4e9aa9ebc1d277aeea67
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9e5398764608d2c19993194c7d957e0
https://doi.org/10.1016/j.ajhg.2022.08.003
https://doi.org/10.1016/j.ajhg.2022.08.003
Autor:
Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury, Sergey Batalov, Michelle Clark, Sara Caylor, Julie Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte Hobbs, David Dimmock, Stephen F. Kingsmore
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/609e8d7e94744aeeb47768b2e021dd86
Autor:
Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury, Sergey Batalov, Michelle Clark, Sara Caylor, Julie Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte Hobbs, David Dimmock, Stephen F. Kingsmore
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/5c84196fbd2942d9ad984aa6da8cb7f5
Autor:
Mallory J. Owen, Sergey Batalov, Katarzyna A. Ellsworth, Meredith Wright, Sylvia Breeding, Kwon Hugh, Stephen F. Kingsmore, Yan Ding
Publikováno v:
Methods in Molecular Biology ISBN: 9781071629499
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a4a65379c6c2ab5ce707005dbb6fc6b6
https://doi.org/10.1007/978-1-0716-2950-5_12
https://doi.org/10.1007/978-1-0716-2950-5_12
Autor:
Mallory J. Owen, Meredith S. Wright, Sergey Batalov, Yonghyun Kwon, Yan Ding, Kevin K. Chau, Shimul Chowdhury, Nathaly M. Sweeney, Elizabeth Kiernan, Andrew Richardson, Emily Batton, Rebecca J. Baer, Gretchen Bandoli, Joseph G. Gleeson, Matthew Bainbridge, Christina D. Chambers, Stephen F. Kingsmore
Publikováno v:
JAMA Network Open. 6:e2254069
ImportanceUnderstanding the causes of infant mortality shapes public health, surveillance, and research investments. However, the association of single-locus (mendelian) genetic diseases with infant mortality is poorly understood.ObjectiveTo determin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a50d08015ae75eac5591d9ba46caf39
https://doi.org/10.1001/jamanetworkopen.2022.54069
https://doi.org/10.1001/jamanetworkopen.2022.54069
Autor:
Anna-Kaisa Niemi, Kevin Hall, Meredith S. Wright, Mark Speziale, Louise Fraser, Jerica Lenberg, Shimul Chowdhury, Tim K McPhail, Sergey Batalov, Luca Van Der Kraan, Kevin K Chau, David Dimmock, Vicki S Thomson, Christian Hansen, Yan Ding, Mark Nespeca, Shyamal S Mehtalia, Sheldon Gilmer, Stephen F. Kingsmore, Mallory J Owen, Zhanyang Zhu, Gail Knight, Chris M Kunard, Charlotte A. Hobbs, Jacqueline Weir, John Reynders, Narayanan Veeraraghavan, Bryan R. Lajoie, Sebastien Lefebvre, Shareef Nahas, Thomas Defay
Publikováno v:
N Engl J Med
Speedy Genetic Diagnosis Infantile encephalopathy is associated with approximately 1500 genetic diseases. Without prompt treatment, permanent neurologic injury or death may occur. Here, the genome ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90fdf8243084399b2bccf87ef969c176
https://europepmc.org/articles/PMC9844116/
https://europepmc.org/articles/PMC9844116/