Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Crescenda L, Uhles"'
Publikováno v:
American Journal of Medical Genetics Part A. 185:3821-3824
We present an 18-month-old male with Tetralogy of Fallot, retrognathia, short stature, global developmental delay, and dysmorphic features who was found to have dual diagnoses of both Williams syndrome and 22q11.2 deletion syndrome (22q11.2DS). To ou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5d7f0909c01298c901d19261b0653c11
https://doi.org/10.1002/ajmg.a.62419
https://doi.org/10.1002/ajmg.a.62419
Autor:
Haley Streff, Crescenda L. Uhles, Heather Fisher, Rachel Franciskovich, Rebecca O. Littlejohn, Amanda Gerard, Julianna Hudnall, Hadley Stevens Smith
Publikováno v:
Genetics in Medicine. 25:100350
Little is known about how Medicaid coverage policies affect access to genetic tests for pediatric patients. Building upon and extending a previous analysis of prior authorization requests (PARs), we describe expected coverage of genetic tests submitt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c8a019ea7654338e40949aba5a62bc4
https://doi.org/10.1016/j.gim.2022.11.018
https://doi.org/10.1016/j.gim.2022.11.018
Autor:
Shino, Shimada, Bobby G, Ng, Amy L, White, Kim K, Nickander, Coleman, Turgeon, Kristen L, Liedtke, Christina T, Lam, Esperanza, Font-Montgomery, Charles M, Lourenco, Miao, He, Dawn S, Peck, Luis A, Umana, Crescenda L, Uhles, Devon, Haynes, Patricia G, Wheeler, Michael J, Bamshad, Deborah A, Nickerson, Tom, Cushing, Ryan, Gates, Natalia, Gomez-Ospina, Heather M, Byers, Fernanda B, Scalco, Noelia N, Martinez, Rani, Sachdev, Lacey, Smith, Annapurna, Poduri, Stephen, Malone, Rebekah V, Harris, Ingrid E, Scheffer, Sergio D, Rosenzweig, David R, Adams, William A, Gahl, May Christine V, Malicdan, Kimiyo M, Raymond, Hudson H, Freeze, Xiaohong, Zhang
Publikováno v:
Journal of medical genetics.
PurposeTo summarise the clinical, molecular and biochemical phenotype of mannosyl-oligosaccharide glucosidase-related congenital disorders of glycosylation (MOGS-CDG), which presents with variable clinical manifestations, and to analyse which clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67d43987ae7f70e65c7c9e2d98568529
https://pubmed.ncbi.nlm.nih.gov/35790351
https://pubmed.ncbi.nlm.nih.gov/35790351
Autor:
Chao Xing, Luis A. Umaña, Donnice Michel, Crescenda L. Uhles, Jason Y. Park, Julia Kozlitina, Judy Fan, Angela E. Scheuerle, Jenny Thies, Christine Quinn, Callie Hornbuckle, Garrett Gotway, Eric Crossley
Publikováno v:
Clinical Chemistry. 66:199-206
BACKGROUND Exome sequencing has become a commonly used clinical diagnostic test. Multiple studies have examined the diagnostic utility and individual laboratory performance of exome testing; however, no previous study has surveyed and compared the da
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e6e81982231a345db0d44f0b5274617
https://doi.org/10.1093/clinchem.2019.306795
https://doi.org/10.1093/clinchem.2019.306795
Autor:
V. Reid Sutton, Fan Xia, Jonathan A. Bernstein, Jill A. Rosenfeld, Donna M. Muzny, Christian P. Schaaf, Francesco Vetrini, Pedro Mancias, Luis F. Escobar, Chad A. Shaw, Marvin R. Natowicz, Deanna J. Erwin, Richard A. Gibbs, Linyan Meng, Alicia Braxton, Karen W. Gripp, Seema R. Lalani, James R. Lupski, Patricia A. Ward, Jennifer E. Posey, Haley Streff, Charul Gijavanekar, Yasemen Eroglu, Andrea M. Lewis, Jie Dong, Arthur L. Beaudet, Hilary J. Vernon, Christine M. Eng, Hongzheng Dai, Pilar L. Magoulas, Weimin Bi, La Keesha Minor, Fernando Scaglia, Andrew R. Ghazi, Yaping Yang, Elizabeth A. Normand, Nan Wu, Theodore Chiang, Xiaofei Song, Mary Kay Koenig, Soledad Kleppe, Weimin He, Hanyin Cheng, Crescenda L. Uhles, Paul J. Benke, Rui Xiao, Elaine H. Zackai, James B. Gibson, Tanya N. Eble, Bo Yuan, Pengfei Liu, Xia Wang
Publikováno v:
N Engl J Med
Reanalysis of Clinical Exome Data and Diagnostic Yield As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. Thi...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::586883b712c52e3cdc325fee41782666
https://doi.org/10.1056/nejmc1812033
https://doi.org/10.1056/nejmc1812033