E-LIB Suche - Ergebnisse für: Singer-Berk, Moriel

1

P575: The Rare Genomes Project: Improving access to genomic..:

Austin-Tse, Christina ; DiTroia, Stephanie ; O'Leary, Melanie...
Genetics in Medicine Open. 2 (2024) - p. 101481 , 2024

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

2

P138: Evaluating the impact of gnomAD v4 on genetic prevale..:

Baxter, Samantha ; Singer-Berk, Moriel ; Russell, Kathryn...
Genetics in Medicine Open. 2 (2024) - p. 101035 , 2024

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

3

Critical assessment of variant prioritization methods for r..:

Stenton, Sarah L. ; O'Leary, Melanie C. ; Lemire, Gabrielle...
Human Genomics. 18 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

4

Exome copy number variant detection, analysis, and classifi..:

Lemire, Gabrielle ; Sanchis-Juan, Alba ; Russell, Kathryn...
The American Journal of Human Genetics. 111 (2024) 5 - p. 863-876 , 2024

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

5

P170: An estimation of global genetic prevalence of PLA2G6-..:

Kiel, Mark ; Kozaric, Amina ; Singer-Berk, Moriel...
Genetics in Medicine Open. 2 (2024) - p. 101067 , 2024

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

6

P474: Applying the 2022 guidelines for non-coding variant c..:

Groopman, Emily ; Singer-Berk, Moriel ; Whiffin, Nicola...
Genetics in Medicine Open. 1 (2023) 1 - p. 100521 , 2023

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

7

P114: Use of population data to empower patient organizatio..:

Baxter, Samantha ; Singer-Berk, Moriel ; Russell, Kathryn...
Genetics in Medicine Open. 1 (2023) 1 - p. 100143 , 2023

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

8

Natural history of TANGO2 deficiency disorder: Baseline ass..:

Miyake, Christina Y. ; Lay, Erica J. ; Soler-Alfonso, Claudia...
Genetics in Medicine. 25 (2023) 4 - p. 100352 , 2023

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

9

P559: Improved classification framework demonstrates many p..:

Singer-Berk, Moriel ; Gudmundsson, Sanna ; Baxter, Samantha...
Genetics in Medicine Open. 1 (2023) 1 - p. 100606 , 2023

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

10

The landscape of tolerated genetic variation in humans and ..:

Gao, Hong ; Hamp, Tobias ; Ede, Jeffrey...
Science. 380 (2023) 6648 - p. , 2023

Link: https://doi.org/10.1126/..

11

Advanced variant classification framework reduces the false..:

Singer-Berk, Moriel ; Gudmundsson, Sanna ; Baxter, Samantha...
The American Journal of Human Genetics. 110 (2023) 9 - p. 1496-1508 , 2023

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

12

Phenotype and genetic analysis of data collected within the..:

Kipkemoi, Patricia ; Kim, Heesu Ally ; Christ, Bjorn...
Neuron. 111 (2023) 18 - p. 2800-2810.e5 , 2023

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

13

Inferring compound heterozygosity from large-scale exome se..:

Guo, Michael H. ; Francioli, Laurent C. ; Stenton, Sarah L....
Nature Genetics. 56 (2023) 1 - p. 152-161 , 2023

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

14

Recommendations for clinical interpretation of variants fou..:

Ellingford, Jamie M. ; Ahn, Joo Wook ; Bagnall, Richard D....
Genome Medicine. 14 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

15

Author Correction: The mutational constraint spectrum quant..:

Genome Aggregation Database Consortium ; Karczewski, Konrad J. ; Francioli, Laurent C....
Nature. 590 (2021) 7846 - p. E53-E53 , 2021

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