E-LIB Suche - Ergebnisse für: Marwaha, Shruti

1

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

Kohler, Jennefer N. ; Legro, Nicole R. ; Baldridge, Dustin...
Genetics in Medicine. , 2024

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

2

The mitochondrial multi-omic response to exercise training ..:

Amar, David ; Gay, Nicole R. ; Jimenez-Morales, David...
Cell Metabolism. 36 (2024) 6 - p. 1411-1429.e10 , 2024

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

3

RExPRT: a machine learning tool to predict pathogenicity of..:

Fazal, Sarah ; Danzi, Matt C. ; Xu, Isaac...
Genome Biology. 25 (2024) 1 - p. , 2024

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

4

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/..

5

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/..

6

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/..

7

Beyond the exome: What's next in diagnostic testing for Men..:

Wojcik, Monica H. ; Reuter, Chloe M. ; Marwaha, Shruti...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1229-1248 , 2023

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

8

A guide for the diagnosis of rare and undiagnosed disease: ..:

Marwaha, Shruti ; Knowles, Joshua W. ; Ashley, Euan A.
Genome Medicine. 14 (2022) 1 - p. , 2022

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

9

Genetic counselor roles in the undiagnosed diseases network..:

Kohler, Jennefer N. ; Kelley, Emily G. ; Boyd, Brenna M....
Journal of Genetic Counseling. 31 (2021) 2 - p. 326-337 , 2021

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

10

Functional and structural analysis of cytokine-selective IL..:

Chen, Yin-Huai ; Zastrow, Diane B. ; Metcalfe, Riley D....
Journal of Allergy and Clinical Immunology. 148 (2021) 2 - p. 585-598 , 2021

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

11

Commonalities across computational workflows for uncovering..:

Kobren, Shilpa Nadimpalli ; Baldridge, Dustin ; Velinder, Matt...
Genetics in Medicine. 23 (2021) 6 - p. 1075-1085 , 2021

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

12

User Preference and Comparative Workflow Evaluation of a Ne..:

, In: Advances in Intelligent Systems and Computing; Advances in Human Factors and Ergonomics in Healthcare and Medical Devices,

Marwaha, Shruti ; Long, Christopher ; John, Thomas T.. - p. 224-230 , 2020

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

13

Impact of Single Sign-on Adoption in an Assessment Triage U..:

James, Neely ; Marwaha, Shruti ; Brough, Stacie.
JONA: The Journal of Nursing Administration. 50 (2020) 3 - p. 159-164 , 2020

Link: https://doi.org/10.1097/..

14

A Patient with Sjogren's Syndrome and Subsequent Diagnosis ..:

Undiagnosed Diseases Network ; Hom, Jason ; Marwaha, Shruti...
Journal of General Internal Medicine. 34 (2019) 6 - p. 1058-1062 , 2019

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

15

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/..