E-LIB Suche - Ergebnisse für: Bale, Sherri J.

1

Correction: Janus-faced EPHB4-associated disorders: novel p..:

Martin-Almedina, Silvia ; Ogmen, Kazim ; Sackey, Ege...
Genetics in Medicine. 23 (2021) 7 - p. 1376-1377 , 2021

Link: https://doi.org/10.1038/..

2

Recommendations for reporting of secondary findings in clin..:

Miller, David T. ; Lee, Kristy ; Gordon, Adam S....
Genetics in Medicine. 23 (2021) 8 - p. 1391-1398 , 2021

Link: https://doi.org/10.1038/..

3

Correction to: ACMG SF v3.0 list for reporting of secondary..:

Miller, David T. ; Lee, Kristy ; Chung, Wendy K....
Genetics in Medicine. 23 (2021) 8 - p. 1582-1584 , 2021

Link: https://doi.org/10.1038/..

4

Janus-faced EPHB4-associated disorders: novel pathogenic va..:

Martin-Almedina, Silvia ; Ogmen, Kazim ; Sackey, Ege...
Genetics in Medicine. 23 (2021) 7 - p. 1315-1324 , 2021

Link: https://doi.org/10.1038/..

5

ACMG SF v3.0 list for reporting of secondary findings in cl..:

Miller, David T. ; Lee, Kristy ; Chung, Wendy K....
Genetics in Medicine. 23 (2021) 8 - p. 1381-1390 , 2021

Link: https://doi.org/10.1038/..

6

Response to Biesecker and Harrison:

Richards, C Sue ; Aziz, Nazneen ; Bale, Sherri...
Genetics in Medicine. 20 (2018) 12 - p. 1689-1690 , 2018

Link: https://doi.org/10.1038/..

7

Bohring‐Opitz syndrome caused by an ASXL1 mutation inherite..:

Bedoukian, Emma ; Copenheaver, Deborah ; Bale, Sherri.
American Journal of Medical Genetics Part A. 176 (2018) 5 - p. 1249-1252 , 2018

Link: https://doi.org/10.1002/..

8

Clinical laboratories collaborate to resolve differences in..:

Harrison, Steven M. ; Dolinsky, Jill S. ; Knight Johnson, Amy E....
Genetics in Medicine. 19 (2017) 10 - p. 1096-1104 , 2017

Link: https://doi.org/10.1038/..

9

The Case for Laboratory Developed Procedures:

Kaul, Karen L. ; Sabatini, Linda M. ; Tsongalis, Gregory J....
Academic Pathology. 4 (2017) - p. 2374289517708309 , 2017

Link: https://doi.org/10.1177/..

10

A survey of current practices for genomic sequencing test i..:

O'Daniel, Julianne M. ; McLaughlin, Heather M. ; Amendola, Laura M....
Genetics in Medicine. 19 (2017) 5 - p. 575-582 , 2017

Link: https://doi.org/10.1038/..

11

Recommendations for reporting of secondary findings in clin..:

Kalia, Sarah S. ; Adelman, Kathy ; Bale, Sherri J....
Genetics in Medicine. 19 (2017) 2 - p. 249-255 , 2017

Link: https://doi.org/10.1038/..

12

Whole exome sequencing reveals de novo pathogenic variants ..:

Millan, Francisca ; Cho, Megan T. ; Retterer, Kyle...
American Journal of Medical Genetics Part A. 170 (2016) 7 - p. 1791-1798 , 2016

Link: https://doi.org/10.1002/..

13

Pathogenic and likely pathogenic variant prevalence among t..:

Susswein, Lisa R. ; Marshall, Megan L. ; Nusbaum, Rachel...
Genetics in Medicine. 18 (2016) 8 - p. 823-832 , 2016

Link: https://doi.org/10.1038/..

14

Clinical application of whole-exome sequencing across clini..:

Retterer, Kyle ; Juusola, Jane ; Cho, Megan T....
Genetics in Medicine. 18 (2016) 7 - p. 696-704 , 2016

Link: https://doi.org/10.1038/..

15

De novo missense variants in PPP1CB are associated with int..:

Ma, Lijiang ; Bayram, Yavuz ; McLaughlin, Heather M....
Human Genetics. 135 (2016) 12 - p. 1399-1409 , 2016

Link: https://doi.org/10.1007/..