E-LIB Suche - Ergebnisse für: Radtke, Kelly

1

P570: Generating a framework for curating mechanism of dise..:

DiStefano, Marina ; Alkuraya, Fowzan ; Amberger, Joanna...
Genetics in Medicine Open. 2 (2024) - p. 101476 , 2024

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

2

Biallelic variants in GTF3C5, a regulator of RNA polymerase..:

Iwata-Otsubo, Aiko ; Skraban, Cara M. ; Yoshimura, Atsunori...
Human Genetics. 143 (2024) 3 - p. 437-453 , 2024

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

3

P451: The Gene Curation Coalition works to resolve discrepa..:

DiStefano, Marina ; Amberger, Joanna ; Austin-Tse, Christina...
Genetics in Medicine Open. 1 (2023) 1 - p. 100498 , 2023

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

4

Diagnostic testing laboratories are valuable partners for d..:

Towne, Meghan C. ; Rossi, Mari ; Wayburn, Bess...
Human Mutation. , 2022

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

5

Launch of the gene curation coalition database:

DiStefano, Marina ; Goehringer, Scott ; Amberger, Joanna...
Molecular Genetics and Metabolism. 132 (2021) - p. S224-S225 , 2021

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

6

Broad implications of sustained, proactive clinical validit..:

Shinde, Deepali ; Wayburn, Bess ; Keller, Haley...
Molecular Genetics and Metabolism. 132 (2021) - p. S262-S263 , 2021

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

7

A retrospective review of multiple findings in diagnostic e..:

Smith, Erica D. ; Blanco, Kirsten ; Sajan, Samin A....
Genetics in Medicine. 21 (2019) 10 - p. 2199-2207 , 2019

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

8

Clinical diagnostic exome sequencing in dystonia: Genetic t..:

Powis, Zöe ; Towne, Meghan C. ; Hagman, Kelly D.F....
Clinical Genetics. 97 (2019) 2 - p. 305-311 , 2019

Link: https://doi.org/10.1111/..

9

Functional variants in TBX2 are associated with a syndromic..:

Liu, Ning ; Schoch, Kelly ; Luo, Xi...
Human Molecular Genetics. 27 (2018) 14 - p. 2454-2465 , 2018

Link: https://doi.org/10.1093/..

10

De Novo and Inherited Loss-of-Function Variants in TLK2: Cl..:

Reijnders, Margot R.F. ; Miller, Kerry A. ; Alvi, Mohsan...
The American Journal of Human Genetics. 102 (2018) 6 - p. 1195-1203 , 2018

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

11

Correction: Candidate-gene criteria for clinical reporting:..:

Farwell Hagman, Kelly D. ; Shinde, Deepali N. ; Mroske, Cameron...
Genetics in Medicine. 20 (2018) 9 - p. 1099-1102 , 2018

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

12

Classification of Genes: Standardized Clinical Validity Ass..:

Smith, Erica D. ; Radtke, Kelly ; Rossi, Mari...
Human Mutation. 38 (2017) 5 - p. 600-608 , 2017

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

13

Candidate-gene criteria for clinical reporting: diagnostic ..:

Farwell Hagman, Kelly D. ; Shinde, Deepali N. ; Mroske, Cameron...
Genetics in Medicine. 19 (2017) 2 - p. 224-235 , 2017

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

14

Noise drives sharpening of gene expression boundaries in th..:

Zhang, Lei ; Radtke, Kelly ; Zheng, Likun...
Molecular Systems Biology. 8 (2012) 1 - p. , 2012

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

15

Combinatorial roles for zebrafish retinoic acid receptors i..:

Linville, Angela ; Radtke, Kelly ; Waxman, Joshua S...
Developmental Biology. 325 (2009) 1 - p. 60-70 , 2009

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