E-LIB Suche - Ergebnisse für: Ellsworth, Katarzyna A.

1

Advancing access to genome sequencing for rare genetic diso..:

Jobanputra, Vaidehi ; Schroeder, Brock ; Rehm, Heidi L....
npj Genomic Medicine. 9 (2024) 1 - p. , 2024

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

2

Genome sequencing detects a wide range of clinically releva..:

James, Kiely N. ; Chowdhury, Shimul ; Ding, Yan...
Genetics in Medicine. 26 (2024) 1 - p. 101006 , 2024

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

3

Response to Grosse et al:

Kingsmore, Stephen F. ; Smith, Laurie D. ; Kunard, Chris M....
The American Journal of Human Genetics. 110 (2023) 6 - p. 1017 , 2023

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

4

A genome sequencing system for universal newborn screening,..:

Kingsmore, Stephen F. ; Smith, Laurie D. ; Kunard, Chris M....
The American Journal of Human Genetics. 109 (2022) 9 - p. 1605-1619 , 2022

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

5

Expanding the phenotypic and molecular spectrum ofNFS1‐rela..:

Yang, Jennifer H. ; Friederich, Marisa W. ; Ellsworth, Katarzyna A....
Human Mutation. 43 (2022) 3 - p. 305-315 , 2022

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

6

Best practices for the interpretation and reporting of clin..:

Austin-Tse, Christina A. ; Jobanputra, Vaidehi ; Perry, Denise L....
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

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

7

An automated 13.5 hour system for scalable diagnosis and ac..:

Owen, Mallory J. ; Lefebvre, Sebastien ; Hansen, Christian...
Nature Communications. 13 (2022) 1 - p. , 2022

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

8

Hemimegalencephaly and intractable seizures associated with..:

Chandrasekar, Indira ; Tourney, Anne ; Loo, Kamela...
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2126-2130 , 2021

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

9

ECHS1 disease in two unrelated families of Samoan descent: ..:

Simon, Mariella T. ; Eftekharian, Shaya S. ; Ferdinandusse, Sacha...
American Journal of Medical Genetics Part A. 185 (2020) 1 - p. 157-167 , 2020

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

10

Urine keratan sulfate (uKS) elevation in lysosomal disorder..:

Auray-Blais, Christiane ; Millington, David ; Wijburg, Frits...
Molecular Genetics and Metabolism. 114 (2015) 2 - p. S16 , 2015

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

11

Urine karatan sulfate (uKS) in Morquio syndrome type A pati..:

Pasquali, Marzia ; Auray-Blais, Christiane ; Ellsworth, Katarzyna...
Molecular Genetics and Metabolism. 114 (2015) 2 - p. S91 , 2015

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

12

Contribution of FKBP5 Genetic Variation to Gemcitabine Trea..:

Ellsworth, Katarzyna A. ; Eckloff, Bruce W. ; Li, Liang...
PLoS ONE. 8 (2013) 8 - p. e70216 , 2013

Link: https://doi.org/10.1371/..

13

FKBP5 genetic variation: association with selective seroton..:

Ellsworth, Katarzyna A. ; Moon, Irene ; Eckloff, Bruce W....
Pharmacogenetics and Genomics. 23 (2013) 3 - p. 156-166 , 2013

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

14

Localization of Association Signal from Risk and Protective..:

Brisbin, Abra ; Jenkins, Gregory D. ; Ellsworth, Katarzyna A...
Frontiers in Genetics. 3 (2012) - p. , 2012

Link: https://doi.org/10.3389/..

15

P146: BeginNGS, an artificial intelligence-enabled genome s..:

Schleit, Jennifer ; Wright, Meredith ; Olsen, Lauren...
Genetics in Medicine Open. 2 (2024) - p. 101043 , 2024

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