E-LIB Suche - Ergebnisse für: Funke, Birgit

1

P677: Evolving from case counts to case-controls data: Upda..:

Kelly, Melissa ; Zouk, Hana ; Ware, James..
Genetics in Medicine Open. 2 (2024) - p. 101581 , 2024

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

2

Toward Proactive "Sequence-First" Risk Prediction for Inher..:

Jurgens, Sean J. ; Funke, Birgit
JACC: Heart Failure. 12 (2024) 5 - p. 933-935 , 2024

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

3

The challenges and opportunities of offering and integratin..:

Deignan, Joshua L. ; Aggarwal, Vimla ; Bale, Allen E....
Genetics in Medicine Open. , 2024

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

4

Elective genomic testing: Practice resource of the National..:

Blout Zawatsky, Carrie L. ; Bick, David ; Bier, Louise...
Journal of Genetic Counseling. 32 (2023) 2 - p. 281-299 , 2023

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

5

Laboratory perspectives in the development of polygenic ris..:

Reddi, Honey V. ; Wand, Hannah ; Funke, Birgit...
Genetics in Medicine. 25 (2023) 5 - p. 100804 , 2023

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

6

The penetrance of rare variants in cardiomyopathy-associate..:

McGurk, Kathryn A. ; Zhang, Xiaolei ; Theotokis, Pantazis...
The American Journal of Human Genetics. 110 (2023) 9 - p. 1482-1495 , 2023

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

7

Systematic large-scale assessment of the genetic architectu..:

Mazzarotto, Francesco ; Hawley, Megan H. ; Beltrami, Matteo...
Genetics in Medicine. 23 (2021) 5 - p. 856-864 , 2021

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

8

The genetic architecture of Plakophilin 2 cardiomyopathy:

Dries, Annika M. ; Kirillova, Anna ; Reuter, Chloe M....
Genetics in Medicine. 23 (2021) 10 - p. 1961-1968 , 2021

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

9

Correction to: The genetic architecture of Plakophilin 2 ca..:

Dries, Annika M. ; Kirillova, Anna ; Reuter, Chloe M....
Genetics in Medicine. 23 (2021) 10 - p. 2014 , 2021

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

10

Diagnostic gene sequencing panels: from design to report—a ..:

Bean, Lora ; Funke, Birgit ; Carlston, Colleen M....
Genetics in Medicine. 22 (2020) 3 - p. 453-461 , 2020

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

11

Use of "Coldspot" Regions in Variant Classification:

Harrison, Steven M ; Funke, Birgit
Clinical Chemistry. 66 (2020) 10 - p. 1263-1265 , 2020

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

12

Author Correction: Best practices for benchmarking germline..:

the Global Alliance for Genomics and Health Benchmarking Team ; Krusche, Peter ; Trigg, Len...
Nature Biotechnology. 37 (2019) 5 - p. 567-567 , 2019

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

13

Best practices for benchmarking germline small-variant call..:

the Global Alliance for Genomics and Health Benchmarking Team ; Krusche, Peter ; Trigg, Len...
Nature Biotechnology. 37 (2019) 5 - p. 555-560 , 2019

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

14

Considerations for clinical curation, classification, and r..:

Senol-Cosar, Ozlem ; Schmidt, Ryan J. ; Qian, Emily...
Genetics in Medicine. 21 (2019) 12 - p. 2765-2773 , 2019

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

15

Clinical diversity of MYH7‐related cardiomyopathies: Insigh..:

Hershkovitz, Tova ; Kurolap, Alina ; Ruhrman‐Shahar, Noa...
American Journal of Medical Genetics Part A. 179 (2018) 3 - p. 365-372 , 2018

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