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Singer‐Berk, Moriel
62
results:
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Online (62)
Mediatypes
Articles (Online) (24)
OpenAccess-fulltext (38)
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1
Variant interpretation using population databases: Lessons ..:
Gudmundsson, Sanna
;
Singer‐Berk, Moriel
;
Watts, Nicholas A.
...
Human Mutation. 43 (2021) 8 - p. 1012-1030 , 2021
Link:
https://doi.org/10.1002/..
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2
A missense mutation in damage‐specific DNA binding protein ..:
Bellone, Rebecca R.
;
Liu, Jiayin
;
Petersen, Jessica L.
...
International Journal of Cancer. 141 (2017) 2 - p. 342-353 , 2017
Link:
https://doi.org/10.1002/..
?
3
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/..
?
4
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/..
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5
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/..
?
6
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/..
?
7
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/..
?
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
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/..
?
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/..
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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
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/..
?
15
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/..
1-15