Zobrazeno 1 - 8
of 8
pro vyhledávání: '"April, Parker"'
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:
Subhadra Siegel, Vincent R. Bonagura, Heather K. Lehman, Geoffrey A. Weinberg, Mark Ballow, Charlotte Cunningham-Rundles, Carlos A. Saavedra-Matiz, Chin-To Fong, Arye Rubinstein, Leonard B. Weiner, Lisa DiAntonio, Michele Caggana, Jocelyn Celestin, Denise M. Kay, April Parker, Allison J. Young, Jason T. Isabelle, Beth Vogel
Publikováno v:
Journal of Clinical Immunology. 34:289-303
To describe the process and assess outcomes for the first 2 years of newborn screening for severe combined immunodeficiency (SCID NBS) in New York State (NYS).The NYS algorithm utilizes a first-tier molecular screen for TRECs (T-cell receptor excisio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ae64dc874acad39b67b98a0f42546ab
https://doi.org/10.1007/s10875-014-0006-7
https://doi.org/10.1007/s10875-014-0006-7
Autor:
April Parker, Christopher A. Rodger
Publikováno v:
Graphs and Combinatorics. 24:367-371
Recently, Lindner showed that every partial 4-cycle system of order n and index 1 could be embedded in a 4-cycle system of order ν and index 1 with v ≤ 2n + 15. While the technique he used does not immediately extend to any higher index, here we d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::acde37c86ec10a2228af650dd71f08bf
https://doi.org/10.1007/s00373-008-0791-y
https://doi.org/10.1007/s00373-008-0791-y
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
Autor:
Michele Caggana, Jason T. Isabelle, April Parker, Melissa L. Sweeney, Matthew Nichols, Salvatore J. Duva, Chad K. Biski, Lea M. Krein, Allison J. Young, Carlos A. Saavedra-Matiz, Lisa DiAntonio
Publikováno v:
Clinical chemistry. 59(7)
BACKGROUNDDried blood spot (DBS) samples have been widely used in newborn screening (NBS) for the early identification of disease to facilitate the presymptomatic treatment of congenital diseases in newborns. As molecular genetics knowledge and techn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6881d2ba9e4c5f82b389cee63e62246d
https://pubmed.ncbi.nlm.nih.gov/23529705
https://pubmed.ncbi.nlm.nih.gov/23529705
Autor:
Jennifer Kinne, April Parker, Jill K. Fisher, Sarah Grant, Linda D. Siracusa, Rebecca A Liddell, Bruce J. Herron
Publikováno v:
Nature genetics. 37(11)
Stratifin (Sfn, also called 14-3-3sigma) is highly expressed in differentiating epidermis and mediates cell cycle arrest. Sfn is repressed in cancer, but its function during development is uncharacterized. We identified an insertion mutation in the g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ce9b369729bf0bec2fbcff79de1b1bf
https://pubmed.ncbi.nlm.nih.gov/16200063
https://pubmed.ncbi.nlm.nih.gov/16200063
Autor:
April Parker, Valerie S. Ratts, Andrew J. White, Randall R. Odem, Anthony R. French, Amber R. Cooper, Geralyn Lambert-Messerlian
Publikováno v:
Journal of Pediatric and Adolescent Gynecology. 24:e51
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c65ddbea0f481f7f6927259262efb6a2
https://doi.org/10.1016/j.jpag.2011.01.019
https://doi.org/10.1016/j.jpag.2011.01.019