Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Nathaly M. Sweeney"'
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:
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:
Caiyun G. Li, Cathal Mahon, Nathaly M. Sweeney, Erik Verschueren, Vivek Kantamani, Dan Li, Jan K. Hennigs, David P. Marciano, Isabel Diebold, Ossama Abu-Halawa, Matthew Elliott, Silin Sa, Feng Guo, Lingli Wang, Aiqin Cao, Christophe Guignabert, Julie Sollier, Nils P. Nickel, Mark Kaschwich, Karlene A. Cimprich, Marlene Rabinovitch
Publikováno v:
Cell Reports, Vol 26, Iss 5, Pp 1333-1343.e7 (2019)
Summary: Using proteomic approaches, we uncovered a DNA damage response (DDR) function for peroxisome proliferator activated receptor γ (PPARγ) through its interaction with the DNA damage sensor MRE11-RAD50-NBS1 (MRN) and the E3 ubiquitin ligase UB
Externí odkaz:
https://doaj.org/article/4b2b333c73b8412195c17cfba09e970c
Autor:
Kathy Zhang‐Rutledge, Mallory Owen, Nathaly M. Sweeney, David Dimmock, Stephen F. Kingsmore, Louise C. Laurent
Publikováno v:
Prenat Diagn
Prenatal diagnosis, vol 42, iss 6
Prenatal diagnosis, vol 42, iss 6
OBJECTIVE: To determine which types of fetal anomalies are associated with postnatal diagnoses of genetic diseases by genomic sequencing and to assess how genomic sequencing may affect clinical management if performed prenatally. METHOD: This was a s
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
Autor:
Lauge Farnaes, Kelly Watkins, David Dimmock, Jeffrey J. Gold, James C. Perry, Matthew N. Bainbridge, Nicole G. Coufal, Benjamin Briggs, Ami Doshi, Matthew R. Williams, Michele Feddock, Michelle M. Clark, Shareef Nahas, Elizabeth Ingulli, Stephen F. Kingsmore, Erica Sanford, Nathaly M. Sweeney, Shimul Chowdhury
Publikováno v:
Pediatric Critical Care Medicine. 20:1007-1020
Objectives:Genetic disorders are a leading contributor to mortality in the neonatal ICU and PICU in the United States. Although individually rare, there are over 6,200 single-gene diseases, which may preclude a genetic diagnosis prior to ICU admissio
Autor:
Narayanan Veeraraghavan, Michelle M. Clark, John J. Nigro, Charlotte A. Hobbs, Sara A. Caylor, David Dimmock, Nathaly M. Sweeney, Shareef Nahas, Yan Ding, Julie A. Cakici, Sergey Batalov, Stephen F. Kingsmore, Shimul Chowdhury
Publikováno v:
NPJ Genomic Medicine
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
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 ascertained in
Autor:
David Dimmock, Cinnamon S. Bloss, Yan Ding, Kiely N. James, Katarzyna A. Ellsworth, Narayanan Veeraraghavan, Matthew N. Bainbridge, Amy S. Kimball, Jaime Barea, Christina Clarke, Jerica Lenberg, Shareef Nahas, Shimul Chowdhury, Erica Sanford, Patrick Mulrooney, Nathaly M. Sweeney, Sergey Batalov, Lauge Farnaes, Jennie Le, Cynthia Cheung, Mary Gaughran, Leila Schwanemann, Daniken Orendain, Maria Ortiz-Arechiga, Charlotte A. Hobbs, Marva Evans, Kelly Watkins, Marilyn C. Jones, Joshua J.A. Braun, Meredith S. Wright, Terence C. Wong, Carlos Diaz, Mari Tokita, Miguel Del Campo, Brian Lane, Stephen F. Kingsmore, Christian Hansen, Lisa Salz, Michelle M. Clark, Nicole G. Coufal, Casey Cohenmeyer, Joe Gleeson, Seema Rego, Kristen Wigby, Jennifer Friedman, Zaira Bezares, Mark Speziale, Sara A. Caylor, Lance Prince, Richard S. Song, Jose Honold, Albert Oriol, Catherine Yamada, Annette Feigenbaum, Lucitia Van Der Kraan, Sandra Leibel, Denise Suttner, Dana Mashburn, Laurel Moyer, Julie A. Cakici, Lynne M. Bird, Charles Sauer, Daeheon Oh, Iris Reyes, Gail Knight, Michele Feddock, Jeanne Carroll
Publikováno v:
Am J Hum Genet
The second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study was a randomized, controlled trial of rapid whole-genome sequencing (rWGS) or rapid whole-exome sequencing (rWES) in infants with diseases of unknown etiology in inte
Autor:
Sara A. Caylor, Shareef Nahas, David Dimmock, John J. Nigro, Shimul Chowdhury, Stephen F. Kingsmore, Michelle M. Clark, Narayanan Veeraraghavan, Julie A. Cakici, Yan Ding, Nathaly M. Sweeney, Sergey Batalov, Charlotte A. Hobbs
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
NPJ Genomic Medicine
NPJ Genomic Medicine