E-LIB Suche - Ergebnisse für: Shimelis, Hermela

1

Pathogenic variants in autism geneKATNAL2cause hydrocephalu..:

DeSpenza Jr., Tyrone ; Singh, Amrita ; Allington, Garrett...
Proceedings of the National Academy of Sciences. 121 (2024) 27 - p. , 2024

Link: https://doi.org/10.1073/..

2

P081: Identification of PALB2 variants and associated cance..:

Savatt, Juliann ; Shimelis, Hermela ; Buchanan, Adam..
Genetics in Medicine Open. 1 (2023) 1 - p. 100100 , 2023

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

3

A novel SMARCC1 BAFopathy implicates neural progenitor epig..:

Singh, Amrita K ; Allington, Garrett ; Viviano, Stephen...
Brain. 147 (2023) 4 - p. 1553-1570 , 2023

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

4

Functional and Clinical Characterization of Variants of Unc..:

Hu, Chunling ; Nagaraj, Anil Belur ; Shimelis, Hermela...
Cancer Research. 83 (2023) 15 - p. 2557-2571 , 2023

Link: https://doi.org/10.1158/..

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

CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is..:

Minguillón, Jordi ; Ramírez, María José ; Rovirosa, Llorenç...
Cancers. 14 (2022) 2 - p. 353 , 2022

Link: https://doi.org/10.3390/..

7

Regulation of p27 (Kip1) by Ubiquitin E3 Ligase RNF6:

Deshmukh, Dhanraj ; Xu, Jin ; Yang, Xi...
Pharmaceutics. 14 (2022) 4 - p. 802 , 2022

Link: https://doi.org/10.3390/..

8

Clinical validity assessment of genes frequently tested on ..:

Riggs, Erin Rooney ; Bingaman, Taylor I. ; Barry, Carrie-Ann...
Genetics in Medicine. 24 (2022) 9 - p. 1899-1908 , 2022

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

9

Birt‐Hogg‐Dubé symptoms in Smith‐Magenis syndrome include p..:

Finucane, Brenda ; Savatt, Juliann M. ; Shimelis, Hermela..
American Journal of Medical Genetics Part A. 185 (2021) 6 - p. 1922-1924 , 2021

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

10

Identifying loss of function FLCN variants and Birt-Hogg-Du..:

Savatt, Juliann ; Shimelis, Hermela ; Myers, Scott..
Molecular Genetics and Metabolism. 132 (2021) - p. S36-S37 , 2021

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

11

Racial and Ethnic Differences in Multigene Hereditary Cance..:

Yadav, Siddhartha ; LaDuca, Holly ; Polley, Eric C...
JNCI: Journal of the National Cancer Institute. 113 (2020) 10 - p. 1429-1433 , 2020

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

12

Classification of variants of uncertain significance in BRC..:

Li, Hongyan ; LaDuca, Holly ; Pesaran, Tina...
Genetics in Medicine. 22 (2020) 4 - p. 701-708 , 2020

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

13

The Contribution of Germline Predisposition Gene Mutations ..:

Hu, Chunling ; Polley, Eric C ; Yadav, Siddhartha...
JNCI: Journal of the National Cancer Institute. 112 (2020) 12 - p. 1231-1241 , 2020

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

14

Comprehensive annotation of BRCA1 and BRCA2 missense varian..:

Hart, Steven N. ; Hoskin, Tanya ; Shimelis, Hermela...
Genetics in Medicine. 21 (2019) 1 - p. 71-80 , 2019

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

15

Clinical validity assessment of genes frequently tested on ..:

Lee, Kristy ; Seifert, Bryce A. ; Shimelis, Hermela...
Genetics in Medicine. 21 (2019) 7 - p. 1497-1506 , 2019

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