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Singer‐Berk, Moriel
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1

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

Gao, Hong ; Hamp, Tobias ; Ede, Jeffrey...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10713091/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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2

Advanced variant classification framework reduces the false..:

Singer-Berk, Moriel ; Gudmundsson, Sanna ; Baxter, Samantha...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10029069/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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3

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

Guo, Michael H ; Francioli, Laurent C ; Stenton, Sarah L...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10055215/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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4

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

Lemire, Gabrielle ; Sanchis-Juan, Alba ; Russell, Kathryn...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593084/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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5

Critical assessment of variant prioritization methods for r..:

Stenton, Sarah L ; O'Leary, Melanie ; Lemire, Gabrielle...
http://medrxiv.org/lookup/doi/10.1101/2023.08.02.23293212.  , 2023
Link: http://hdl.handle.net/10..
 
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6

P559: Improved classification framework demonstrates many p..:

Moriel Singer-Berk ; Sanna Gudmundsson ; Samantha Baxter...
http://www.sciencedirect.com/science/article/pii/S2949774423006064.  , 2023
Link: https://doi.org/10.1016/..
 
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7

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

Gao, Hong ; Hamp, Tobias ; Ede, Jeffrey...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187174/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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8

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

Samantha Baxter ; Moriel Singer-Berk ; Kathryn Russell...
http://www.sciencedirect.com/science/article/pii/S2949774423001437.  , 2023
Link: https://doi.org/10.1016/..
 
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9

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

Emily Groopman ; Moriel Singer-Berk ; Nicola Whiffin...
http://www.sciencedirect.com/science/article/pii/S2949774423005216.  , 2023
Link: https://doi.org/10.1016/..
 
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10

Variant interpretation using population databases: lessons ..:

Gudmundsson, Sanna ; Singer-Berk, Moriel ; Watts, Nicholas A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9160216/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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11

Recommendations for clinical interpretation of variants fou..:

Ellingford, Jamie M ; Ahn, Joo Wook ; Bagnall, Richard D...
doi:10.17863/CAM.87697.  , 2022
Link: https://doi.org/10.17863..
 
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12

Recommendations for clinical interpretation of variants fou..:

Ellingford, Jamie M ; Ahn, Joo Wook ; Bagnall, Richard D...
https://eprints.soton.ac.uk/467630/1/2021.12.28.21267792v1.full.pdf.  , 2022
Link: https://eprints.soton.ac..
 
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13

Recommendations for clinical interpretation of variants fou..:

Jamie M. Ellingford ; Joo Wook Ahn ; Richard D. Bagnall...
https://doi.org/10.1186/s13073-022-01073-3.  , 2022
Link: https://doi.org/10.1186/..
 
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14

Recommendations for clinical interpretation of variants fou..:

Ellingford, Jamie M ; Ahn, Joo Wook ; Bagnall, Richard D...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295495/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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15

Determinants of penetrance and variable expressivity in mon..:

Goodrich, Julia K ; Singer-Berk, Moriel ; Son, Rachel...
qt0dd6m6fw.  , 2021
Link: https://escholarship.org..
 
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