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Deignan, Joshua L
97
results:
Search for persons
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Online (97)
Mediatypes
Articles (Online) (45)
Bookchapter (Online) (2)
OpenAccess-fulltext (50)
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?
1
The challenges and opportunities of offering and integratin..:
Deignan, Joshua L.
;
Aggarwal, Vimla
;
Bale, Allen E.
...
Genetics in Medicine Open. , 2024
Link:
https://doi.org/10.1016/..
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2
P672: Commercial cystic fibrosis carrier screening tests an..:
Tidwell, Timothy
;
Gregg, Anthony
;
Grody, Wayne
...
Genetics in Medicine Open. 2 (2024) - p. 101576 , 2024
Link:
https://doi.org/10.1016/..
?
3
Moving toward more consistency in variant classification an..:
David, Karen L.
;
Deignan, Joshua L.
Genetics in Medicine. 25 (2023) 1 - p. 12-15 , 2023
Link:
https://doi.org/10.1016/..
?
4
Points to consider in the detection of germline structural ..:
Raca, Gordana
;
Astbury, Caroline
;
Behlmann, Andrea
...
Genetics in Medicine. 25 (2023) 2 - p. 100316 , 2023
Link:
https://doi.org/10.1016/..
?
5
Updated recommendations for CFTR carrier screening: A posit..:
Deignan, Joshua L.
;
Gregg, Anthony R.
;
Grody, Wayne W.
...
Genetics in Medicine. 25 (2023) 8 - p. 100867 , 2023
Link:
https://doi.org/10.1016/..
?
6
Points to consider in the practice of postmortem genetic te..:
Deignan, Joshua L.
;
De Castro, Mauricio
;
Horner, Vanessa L.
...
Genetics in Medicine. 25 (2023) 5 - p. 100017 , 2023
Link:
https://doi.org/10.1016/..
?
7
Clinical Exome Reanalysis: Current Practice and Beyond:
Ji, Jianling
;
Leung, Marco L.
;
Baker, Samuel
..
Molecular Diagnosis & Therapy. 25 (2021) 5 - p. 529-536 , 2021
Link:
https://doi.org/10.1007/..
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8
Incidental detection of acquired variants in germline genet..:
Chao, Elizabeth C.
;
Astbury, Caroline
;
Deignan, Joshua L.
...
Genetics in Medicine. 23 (2021) 7 - p. 1179-1184 , 2021
Link:
https://doi.org/10.1038/..
?
9
Addendum: Technical standards and guidelines for spinal mus..:
Deignan, Joshua L.
;
Astbury, Caroline
;
Behlmann, Andrea
...
Genetics in Medicine. 23 (2021) 12 - p. 2462 , 2021
Link:
https://doi.org/10.1038/..
?
10
25. Importance of internal controls to monitor performance ..:
Kopp, Nathan
;
Eno, Celeste
;
Senaratne, Niroshi
..
Cancer Genetics. 244 (2020) - p. 9-10 , 2020
Link:
https://doi.org/10.1016/..
?
11
CFTR variant testing: a technical standard of the American ..:
Deignan, Joshua L.
;
Astbury, Caroline
;
Cutting, Garry R.
...
Genetics in Medicine. 22 (2020) 8 - p. 1288-1295 , 2020
Link:
https://doi.org/10.1038/..
?
12
Points to consider when assessing relationships (or suspect..:
Deignan, Joshua L.
;
Chao, Elizabeth
;
Gannon, Jennifer L.
...
Genetics in Medicine. 22 (2020) 8 - p. 1285-1287 , 2020
Link:
https://doi.org/10.1038/..
?
13
Estimating the relative frequency of leukodystrophies and r..:
Schmidt, Johanna L.
;
Pizzino, Amy
;
Nicholl, Jessica
...
American Journal of Medical Genetics Part A. 182 (2020) 8 - p. 1906-1912 , 2020
Link:
https://doi.org/10.1002/..
?
14
A Diagnostic Ceiling for Exome Sequencing in Cerebellar Ata..:
Ngo, Kathie
;
Rexach, Jessica
;
Lee, Hane
...
Neurology. 94 (2020) 15_supplement - p. , 2020
Link:
https://doi.org/10.1212/..
?
15
Homozygosity for the A431E mutation in PSEN1 presenting wit..:
Parker, John
;
Mozaffar, Tahseen
;
Messmore, Ashlynn
...
Neuroscience Letters. 699 (2019) - p. 195-198 , 2019
Link:
https://doi.org/10.1016/..
1-15