Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Colleen F, Stevens"'
Autor:
Robert J. Sicko, Colleen F. Stevens, Erin E. Hughes, Melissa Leisner, Helen Ling, Carlos A. Saavedra-Matiz, Michele Caggana, Denise M. Kay
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 4, p 73 (2021)
Newborn screening (NBS) for Cystic Fibrosis (CF) is associated with improved outcomes. All US states screen for CF; however, CF NBS algorithms have high false positive (FP) rates. In New York State (NYS), the positive predictive value of CF NBS impro
Externí odkaz:
https://doaj.org/article/6481f5b849294e69b1df70935f9b46cb
Autor:
Bo Hoon Lee, Stella Deng, Claudia A. Chiriboga, Denise M. Kay, Obehioya Irumudomon, Emma Laureta, Leslie Delfiner, Simona O. Treidler, Yaacov Anziska, Ai Sakonju, Chelsea Kois, Osman Farooq, Kristin Engelstad, Alexandra Laurenzano, Katherine Hogan, Michele Caggana, Carlos A. Saavedra-Matiz, Colleen F. Stevens, Emma Ciafaloni
Publikováno v:
Neurology
Background and ObjectivesSpinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel in July 2018 largely on the basis of the availability and efficacy of newly approved disease-modifying therapies. New York State (NYS) started
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee873a2680827d73e98bae9d821331c5
https://pubmed.ncbi.nlm.nih.gov/35835557
https://pubmed.ncbi.nlm.nih.gov/35835557
Autor:
Melissa Leisner, Michele Caggana, Carlos A. Saavedra-Matiz, Colleen F. Stevens, Erin E. Hughes, Robert J. Sicko, Helen Ling, Denise M. Kay
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 73, p 73 (2021)
International Journal of Neonatal Screening
Volume 7
Issue 4
International Journal of Neonatal Screening
Volume 7
Issue 4
Newborn screening (NBS) for Cystic Fibrosis (CF) is associated with improved outcomes. All US states screen for CF
however, CF NBS algorithms have high false positive (FP) rates. In New York State (NYS), the positive predictive value of CF NBS i
however, CF NBS algorithms have high false positive (FP) rates. In New York State (NYS), the positive predictive value of CF NBS i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::667ce9fd81c8ddaa3d7945f7a569cf28
https://www.mdpi.com/2409-515X/7/4/73
https://www.mdpi.com/2409-515X/7/4/73
Autor:
Kristin Engelstad, Colleen F. Stevens, Emma Laureta, Claudia A. Chiriboga, April Parker, Simona Treidler, Emma Ciafaloni, Leslie Delfiner, Michele Caggana, Denise M. Kay, Yaacov Anziska, Carlos A. Saavedra-Matiz, Osman Farooq, Ai Sakonju, Bo Hoon Lee, Sohail Malek, Virginia Sack, Wendy K. Chung
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(8)
Spinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel (RUSP) in July 2018, following FDA approval of the first effective SMA treatment, and demonstration of feasibility of high-throughput newborn screening using a primary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07cf1357c43ea64109310216c9601a58
https://pubmed.ncbi.nlm.nih.gov/32601389
https://pubmed.ncbi.nlm.nih.gov/32601389
Autor:
Patrick Van Roey, Ran D. Anbar, Karen Z. Voter, Catherine Kier, Zhen Zhang, Andrew Ting, Denise M. Kay, Allen J. Dozor, Norma P. Tavakoli, Maria Berdella, Danielle Goetz, Lea M. Krein, Colleen F. Stevens, Louis Guida, Michele Caggana, Breanne Maloney, Erin E. Hughes, Beth Vogel, Meyer Kattan, Paul G. Comber, Joan DeCelie-Germana, April Parker, Carlos A. Saavedra-Matiz
Publikováno v:
Human Mutation. 37:201-208
Infants are screened for cystic fibrosis (CF) in New York State (NYS) using an IRT-DNA algorithm. The purpose of this study was to validate and assess clinical validity of the US FDA-cleared Illumina MiSeqDx CF 139-Variant Assay (139-VA) in the diver
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::190840d4d08a36ca68b1d2461e0003f9
https://doi.org/10.1002/humu.22927
https://doi.org/10.1002/humu.22927
Autor:
Ritu Jain, Jennifer N Kraszewski, Bianca Haser, Michele Caggana, Carrie Koval, Nicole M. LaMarca, Sally Dunaway Young, Wendy K. Chung, Anthony Albertorio, Colleen F. Stevens, Sarah P Andrew, Darryl C. De Vivo, Denise M. Kay, Lilian L. Cohen, Veronica Ortiz
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(6)
PurposeTo determine feasibility and utility of newborn screening for spinal muscular atrophy (SMA) in New York State.MethodsWe validated a multiplex TaqMan real-time quantitative polymerase chain reaction assay using dried blood spots for SMA. From J
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ce9c92a0be21e51d408bb4d1797851b
https://pubmed.ncbi.nlm.nih.gov/29758563
https://pubmed.ncbi.nlm.nih.gov/29758563
Autor:
Lisa DiAntonio, Melissa P. Wasserstein, Xinying Hong, Sara Violante, Farideh Ghomashchi, Erin E. Hughes, Michele Caggana, Michael H. Gelb, Na Lin, Chunli Yu, Ruth Kornreich, Hui Zhou, Hsuan-Chieh Liao, Joseph J. Orsini, Arun Kumar, Jingyu Huang, Colleen F. Stevens
Publikováno v:
Clinical chemistry. 63(4)
BACKGROUND Pompe disease (PD) is the first lysosomal storage disorder to be added to the Recommended Uniform Screening Panel for newborn screening. This condition has a broad phenotypic spectrum, ranging from an infantile form (IOPD), with severe mor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::443835dfd19104c18b3281f080808ba9
https://pubmed.ncbi.nlm.nih.gov/28196920
https://pubmed.ncbi.nlm.nih.gov/28196920
Autor:
Colleen F. Stevens, Michele Caggana, Joseph J. Orsini, Beth Vogel, Lissette Estrella, Amy Yang, Natasha Zeid, Na Lin, Melissa P. Wasserstein, Chunli Yu, Sarah Bradley
Publikováno v:
Molecular Genetics and Metabolism. 120:S142-S143
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3dd99e035365b5d721b52e597a934969
https://doi.org/10.1016/j.ymgme.2016.11.379
https://doi.org/10.1016/j.ymgme.2016.11.379
Autor:
Erin E, Hughes, Colleen F, Stevens, Carlos A, Saavedra-Matiz, Norma P, Tavakoli, Lea M, Krein, April, Parker, Zhen, Zhang, Breanne, Maloney, Beth, Vogel, Joan, DeCelie-Germana, Catherine, Kier, Ran D, Anbar, Maria N, Berdella, Paul G, Comber, Allen J, Dozor, Danielle M, Goetz, Louis, Guida, Meyer, Kattan, Andrew, Ting, Karen Z, Voter, Patrick, van Roey, Michele, Caggana, Denise M, Kay
Publikováno v:
Human mutation. 37(2)
Infants are screened for cystic fibrosis (CF) in New York State (NYS) using an IRT-DNA algorithm. The purpose of this study was to validate and assess clinical validity of the US FDA-cleared Illumina MiSeqDx CF 139-Variant Assay (139-VA) in the diver
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::317e2b8bdd675fa79bf0c31423e33617
https://pubmed.ncbi.nlm.nih.gov/26538069
https://pubmed.ncbi.nlm.nih.gov/26538069