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Deignan, Joshua L
45  Ergebnisse:
Artikel (Online) X
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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