E-LIB Suche - Ergebnisse für: Natasha T. Strande

1

PO-01-060 ARRHYTHMIA BURDEN AND DISTRIBUTION ACROSS THE TTN..:

Kelly, Melissa A. ; Savatt, Juliann M. ; Haggerty, Christopher...
Heart Rhythm. 21 (2024) 5 - p. S194-S195 , 2024

2

Genome-first approach of the prevalence and cancer phenotyp..:

de Andrade, Kelvin C. ; Strande, Natasha T. ; Kim, Jung...
Human Genetics and Genomics Advances. 5 (2024) 1 - p. 100242 , 2024

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

3

Yield of Familial Hypercholesterolemia Genetic and Phenotyp..:

Gidding, Samuel S. ; Kirchner, H. Lester ; Brangan, Andrew...
Journal of the American Heart Association. 12 (2023) 13 - p. , 2023

Link: https://doi.org/10.1161/..

4

The Phenotypic Spectrum of COL4A3 Heterozygotes:

Solanki, Kaushal V. ; Hu, Yirui ; Moore, Bryn S....
Kidney International Reports. 8 (2023) 10 - p. 2088-2099 , 2023

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

5

Frequency of truncating FLCN variants and Birt-Hogg-Dubé–as..:

Savatt, Juliann M. ; Shimelis, Hermela ; Moreno-De-Luca, Andres...
Genetics in Medicine. 24 (2022) 9 - p. 1857-1866 , 2022

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

6

Massively parallel reporter assays discover de novo exonic ..:

Rhine, Christy L. ; Neil, Christopher ; Wang, Jing...
PLOS Genetics. 18 (2022) 1 - p. e1009884 , 2022

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

7

Calibration of computational tools for missense variant pat..:

Pejaver, Vikas ; Byrne, Alicia B. ; Feng, Bing-Jian...
The American Journal of Human Genetics. 109 (2022) 12 - p. 2163-2177 , 2022

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

8

A RE-AIM Framework Analysis of DNA-Based Population Screeni..:

Jones, Laney K. ; Strande, Natasha T. ; Calvo, Evan M....
Frontiers in Genetics. 13 (2022) - p. , 2022

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

9

Leveraging population‐based exome screening to impact clini..:

Kelly, Melissa A ; Leader, Joseph B ; Wain, Karen E...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187 (2021) 1 - p. 83-94 , 2021

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

10

Electronic health record analysis identifies kidney disease..:

Oetjens, Matthew T. ; Luo, Jonathan Z. ; Chang, Alexander...
PLOS ONE. 15 (2020) 11 - p. e0242182 , 2020

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

11

An Age-Based Framework for Evaluating Genome-Scale Sequenci..:

Milko, Laura V. ; O'Daniel, Julianne M. ; DeCristo, Daniela M....
The Journal of Pediatrics. 209 (2019) - p. 68-76 , 2019

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

12

Approaches to carrier testing and results disclosure in tra..:

Porter, Kathryn M. ; Kauffman, Tia L. ; Koenig, Barbara A....
Molecular Genetics & Genomic Medicine. 6 (2018) 6 - p. 898-909 , 2018

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

13

Navigating the nuances of clinical sequence variant interpr..:

Strande, Natasha T. ; Brnich, Sarah E. ; Roman, Tamara S..
Genetics in Medicine. 20 (2018) 9 - p. 918-926 , 2018

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

14

2. Two patients demonstrating the rare phenomenon of rod/ri..:

Strande, Natasha T. ; Hayden, Melissa A. ; Poss, Alexis F....
Cancer Genetics. 224-225 (2018) - p. 51 , 2018

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

15

"Possibly positive or certainly uncertain?": participants' ..:

Skinner, Debra ; Roche, Myra I. ; Weck, Karen E....
Genetics in Medicine. 20 (2018) 3 - p. 313-319 , 2018

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