E-LIB Suche - Ergebnisse für: Nykamp, Keith

1

Using genomic databases to determine the frequency and popu..:

Hannah, William B. ; Drumm, Mitchell L. ; Nykamp, Keith...
Genetics in Medicine Open. , 2024

2

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N.W. ; Shimamura, Akiko...
Human Genetics and Genomics Advances. 5 (2024) 2 - p. 100273 , 2024

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

3

P073: Novel high-throughput functional models for MLH1, MSH..:

Stafford, David ; Reuter, Jason ; Padigepati, Samskruthi...
Genetics in Medicine Open. 2 (2024) - p. 100955 , 2024

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

4

P164: Scalable Bayesian variant interpretation of Lynch syn..:

Manders, Toby ; Kobayashi, Yuya ; Wahl, Alex...
Genetics in Medicine Open. 2 (2024) - p. 101061 , 2024

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

5

Expanding CXCR4 variant landscape in WHIM syndrome: integra..:

Zmajkovicova, Katarina ; Nykamp, Keith ; Blair, Grace..
Frontiers in Immunology. 15 (2024) - p. , 2024

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

6

Scalable approaches for generating, validating and incorpor..:

Padigepati, Samskruthi Reddy ; Stafford, David A. ; Tan, Christopher A....
Human Genetics. , 2024

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

7

P685: Assessing the variant landscape in patients: An emerg..:

Tan, Christopher ; Ouyang, Karen ; O'Neill, Audrey..
Genetics in Medicine Open. 2 (2024) - p. 101589 , 2024

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

8

P071: Utility of RNA analysis in genetic testing for heredi..:

Hamilton, Sarah ; Fosler, Lindsay ; Pineda-Alvarez, Daniel..
Genetics in Medicine Open. 2 (2024) - p. 100953 , 2024

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

9

P244: Developing Bayesian graphical models to provide conti..:

Manders, Toby ; Kobayashi, Yuya ; Nicoludis, John...
Genetics in Medicine Open. 1 (2023) 1 - p. 100272 , 2023

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

10

A Systematic Method for Detecting Abnormal mRNA Splicing an..:

Kamps-Hughes, Nick ; Carlton, Victoria E.H. ; Fresard, Laure...
The Journal of Molecular Diagnostics. 25 (2023) 3 - p. 156-167 , 2023

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

11

Cover Image, Volume 193, Number 3, September 2023:

Aradhya, Swaroop ; Facio, Flavia M. ; Metz, Hillery...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193 (2023) 3 - p. , 2023

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

12

Applications of artificial intelligence in clinical laborat..:

Aradhya, Swaroop ; Facio, Flavia M. ; Metz, Hillery...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193 (2023) 3 - p. , 2023

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

13

Fumarate Hydratase Variants and Their Association With Para..:

Zavoshi, Shirin ; Lu, Eric ; Boutros, Paul C....
Urology. 176 (2023) - p. 106-114 , 2023

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

14

Deletions in DNAL1 Cause Primary Ciliary Dyskinesia Across ..:

Poplawska, Karolina ; Griffiths, Anne ; Temme, Renee...
The Journal of Pediatrics. 261 (2023) - p. 113362 , 2023

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

15

THE IMPACT OF MACHINE LEARNING MODELS IN REDUCING VARIANTS ..:

Johnson, Britt ; Facio, Flavia ; Morales, Ana...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107433 , 2023

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