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Minikel, Eric V.
67
results:
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Online (67)
Mediatypes
Articles (Online) (43)
OpenAccess-fulltext (24)
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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...
1-15