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Minikel, Eric V.
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1

Fluid Biomarkers in Individuals at Risk for Genetic Prion D..:

Vallabh, Sonia M. ; Mortberg, Meredith A. ; Allen, Shona W....
Neurology.  103 (2024)  2 - p. , 2024
Link: https://doi.org/10.1212/..
 
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2

91 Investigation of Cognitive Differences in Pre-Symptomati..:

Ford, Abaigeal M ; Sather, Lauren E ; Schwab, Nadine A...
Journal of the International Neuropsychological Society.  29 (2023)  s1 - p. 82-83 , 2023
Link: https://doi.org/10.1017/..
 
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3

Author Correction: Landscape of multi-nucleotide variants i..:

Wang, Qingbo ; Pierce-Hoffman, Emma ; Cummings, Beryl B....
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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4

Author Correction: The effect of LRRK2 loss-of-function var..:

Genome Aggregation Database Production Team ; Whiffin, Nicola ; Armean, Irina M....
Nature Medicine.  27 (2021)  2 - p. 355-355 , 2021
Link: https://doi.org/10.1038/..
 
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5

The effect of LRRK2 loss-of-function variants in humans:

Whiffin, Nicola ; Armean, Irina M. ; Kleinman, Aaron...
Nature Medicine.  26 (2020)  6 - p. 869-877 , 2020
Link: https://doi.org/10.1038/..
 
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6

Landscape of multi-nucleotide variants in 125,748 human exo..:

Wang, Qingbo ; Pierce-Hoffman, Emma ; Cummings, Beryl B....
Nature Communications.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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7

Correction: Insights into the genetic epidemiology of Crohn..:

Rivas, Manuel A. ; Avila, Brandon E. ; Koskela, Jukka...
PLOS Genetics.  15 (2019)  5 - p. e1008190 , 2019
Link: https://doi.org/10.1371/..
 
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8

Insights into the genetic epidemiology of Crohn's and rare ..:

Rivas, Manuel A. ; Avila, Brandon E. ; Koskela, Jukka...
PLOS Genetics.  14 (2018)  5 - p. e1007329 , 2018
Link: https://doi.org/10.1371/..
 
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9

Reassessment of Mendelian gene pathogenicity using 7,855 ca..:

Walsh, Roddy ; Thomson, Kate L. ; Ware, James S....
Genetics in Medicine.  19 (2017)  2 - p. 192-203 , 2017
Link: https://doi.org/10.1038/..
 
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10

ClinVar data parsing:

Zhang, Xiaolei ; Minikel, Eric V. ; O'Donnell-Luria, Anne H....
Wellcome Open Research.  2 (2017)  - p. 33 , 2017
Link: https://doi.org/10.12688..
 
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11

Analysis of protein-coding genetic variation in 60,706 huma..:

Exome Aggregation Consortium ; Lek, Monkol ; Karczewski, Konrad J....
Nature.  536 (2016)  7616 - p. 285-291 , 2016
Link: https://doi.org/10.1038/..
 
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12

Effect of predicted protein-truncating genetic variants on ..:

Rivas, Manuel A. ; Pirinen, Matti ; Conrad, Donald F....
Science.  348 (2015)  6235 - p. 666-669 , 2015
Link: https://doi.org/10.1126/..
 
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13

Effect of predicted protein-truncating genetic variants on ..:

Rivas, Manuel A. ; Pirinen, Matti ; Conrad, Donald F....
Science.  348 (2015)  6235 - p. 666-669 , 2015
Link: http://www.jstor.org/sta..
 
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14

Author Correction: Transcript expression-aware annotation i..:

Cummings, Beryl B ; Karczewski, Konrad J ; Kosmicki, Jack A...
https://eprints.soton.ac.uk/468337/1/s41586_020_03175_7.pdf.  , 2021
Link: https://eprints.soton.ac..
 
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15

Author Correction: The effect of LRRK2 loss-of-function var..:

Whiffin, Nicola ; Armean, Irina M ; Kleinman, Aaron...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8095267/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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