E-LIB Suche - Ergebnisse für: Olson, Rory

1

ACMG/AMP variant classification framework in arginase 1 def..:

Cameron, Jessie M. ; Osundiji, Mayowa Azeez ; Olson, Rory J...
Genetics in Medicine Open. 2 (2024) - p. 101815 , 2024

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

2

Identification of skewed X chromosome inactivation using ex..:

Fadra, Numrah ; Schultz-Rogers, Laura E ; Chanana, Pritha...
BMC Genomics. 25 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

3

P046: ACMG/AMP variant classification framework in arginase..:

Osundiji, Mayowa ; Cameron, Jessie ; Olson, Rory..
Genetics in Medicine Open. 2 (2024) - p. 100923 , 2024

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

4

Semiautomated approach focused on new genomic information r..:

Ferrer, Alejandro ; Duffy, Patrick ; Olson, Rory J....
Human Genetics. 143 (2024) 5 - p. 649-666 , 2024

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

5

P348: Agnostic analysis of transcriptome sequencing of pati..:

Verheijen, Jan ; William, Nancy ; Figueiral, Marta...
Genetics in Medicine Open. 2 (2024) - p. 101242 , 2024

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

6

P106: Population based reporting of ACMG78 secondary findin..:

Arroyo, Jennifer ; Olson, Rory
Genetics in Medicine Open. 1 (2023) 1 - p. 100135 , 2023

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

7

Impact of integrated translational research on clinical exo..:

Klee, Eric W. ; Cousin, Margot A. ; Pinto e Vairo, Filippo...
Genetics in Medicine. 25 (2023) 2 - p. 100359 , 2023

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

8

O50: A RENEW'd strategy to ending the diagnostic odyssey: S..:

Olson, Rory ; Ferrer, Alejandro ; Duffy, Patrick...
Genetics in Medicine Open. 1 (2023) 1 - p. 100703 , 2023

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

9

P459: Exome sequencing analysis reveals enrichment of varia..:

Farrugia, Stefan ; Olson, Rory ; Klee, Eric.
Genetics in Medicine Open. 1 (2023) 1 - p. 100506 , 2023

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

10

Neurodevelopmental and Epilepsy Phenotypes in Individuals W..:

Happ, Hannah C. ; Sadleir, Lynette G. ; Zemel, Matthew...
Neurology. 100 (2023) 6 - p. , 2023

Link: https://doi.org/10.1212/..

11

Identification of AFG3L2 dominant optic atrophy following r..:

Brodsky, Michael C. ; Olson, Rory J. ; Asumda, Faizal Z....
American Journal of Ophthalmology Case Reports. 30 (2023) - p. 101825 , 2023

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

12

eP383: Mayo Clinic GeneGuide: A population-scale genetic in..:

Olson, Rory ; Morales-Rosado, Joel ; Safgren, Stephanie...
Genetics in Medicine. 24 (2022) 3 - p. S241-S242 , 2022

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

13

BOREALIS: an R/Bioconductor package to detect outlier methy..:

Oliver, Gavin R. ; Jenkinson, W. Garrett ; Olson, Rory J...
F1000Research. 11 (2022) - p. 1538 , 2022

Link: https://doi.org/10.12688..

14

eP158: The utility of transcriptomics to increase diagnosti..:

Klee, Eric ; Macke, Erica ; Cousin, Margot...
Genetics in Medicine. 24 (2022) 3 - p. S96-S97 , 2022

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

15

Impact of integrated translational research on clinical exo..:

Klee, Eric W. ; Cousin, Margot A. ; Pinto e Vairo, Filippo...
Genetics in Medicine. 23 (2021) 3 - p. 498-507 , 2021

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