E-LIB Suche - Ergebnisse für: Bonner, Devon

1

O42: Development of an anti-sense oligonucleotide therapeut..:

Wheeler, Matthew ; Bonner, Devon ; Alvarez, Raquel...
Genetics in Medicine Open. 2 (2024) - p. 101025 , 2024

Link: https://doi.org/10.1016/..

2

P639: Large-scale genome reanalysis of 159 individuals affe..:

Mendez, Hector ; Bonner, Devon ; Reuter, Chloe...
Genetics in Medicine Open. 2 (2024) - p. 101545 , 2024

Link: https://doi.org/10.1016/..

3

Loss of function of FAM177A1, a Golgi complex localized pro..:

Kohler, Jennefer N. ; Legro, Nicole R. ; Baldridge, Dustin...
Genetics in Medicine. 26 (2024) 9 - p. 101166 , 2024

Link: https://doi.org/10.1016/..

4

A concurrent dual analysis of genomic data augments diagnos..:

Spillmann, Rebecca C. ; Tan, Queenie K.-G. ; Reuter, Chloe...
Genetics in Medicine. 25 (2023) 4 - p. 100353 , 2023

Link: https://doi.org/10.1016/..

5

P643: Transcriptome sequencing increases yield of Mendelian..:

Bonner, Devon ; Ungar, Rachel ; Goddard, Page...
Genetics in Medicine Open. 1 (2023) 1 - p. 100708 , 2023

Link: https://doi.org/10.1016/..

6

Clinical sites of the Undiagnosed Diseases Network: unique ..:

Schoch, Kelly ; Esteves, Cecilia ; Bican, Anna...
Genetics in Medicine. 23 (2021) 2 - p. 259-271 , 2021

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

7

Biallelic UBE4A loss-of-function variants cause intellectua..:

Melo, Uirá Souto ; Bonner, Devon ; Kent Lloyd, Kevin C....
Genetics in Medicine. 23 (2021) 4 - p. 661-668 , 2021

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

8

Characterization of HNRNPA1 mutations defines diversity in ..:

Beijer, Danique ; Kim, Hong Joo ; Guo, Lin...
JCI Insight. 6 (2021) 14 - p. , 2021

Link: https://doi.org/10.1172/..

9

A comprehensive iterative approach is highly effective in d..:

Shashi, Vandana ; Schoch, Kelly ; Spillmann, Rebecca...
Genetics in Medicine. 21 (2019) 1 - p. 161-172 , 2019

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

10

A toolkit for genetics providers in follow‐up of patients w..:

Zastrow, Diane B. ; Kohler, Jennefer N. ; Bonner, Devon...
Journal of Genetic Counseling. 28 (2019) 2 - p. 213-228 , 2019

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

11

Yield of whole exome sequencing in undiagnosed patients fac..:

Reuter, Chloe M. ; Kohler, Jennefer N. ; Bonner, Devon...
Journal of Genetic Counseling. 28 (2019) 6 - p. 1107-1118 , 2019

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

12

Developing a genomics rotation: Practical training around v..:

Grove, Megan E. ; White, Shana ; Fisk, Dianna G....
Journal of Genetic Counseling. 28 (2019) 2 - p. 466-476 , 2019

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

13

Racial disparities in BRCA testing and cancer risk manageme..:

Cragun, Deborah ; Weidner, Anne ; Lewis, Courtney...
Cancer. 123 (2017) 13 - p. 2497-2505 , 2017

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

14

A high frequency of BRCA mutations in young black women wit..:

Pal, Tuya ; Bonner, Devon ; Cragun, Deborah...
Cancer. 121 (2015) 23 - p. 4173-4180 , 2015

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

15

BRCA sequencing and large rearrangement testing in young Bl..:

Pal, Tuya ; Bonner, Devon ; Cragun, Deborah...
Journal of Community Genetics. 5 (2013) 2 - p. 157-165 , 2013

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