E-LIB Suche - Ergebnisse für: Deignan, Joshua L

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/..

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 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/..

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 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/..

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/..

8

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/..

9

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/..

10

Clinical Exome Reanalysis: Current Practice and Beyond:

Ji, Jianling ; Leung, Marco L ; Baker, Samuel..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8410709/. , 2021

Link: http://www.ncbi.nlm.nih...

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

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/..

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

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/..

15

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/..