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Samocha, Kaitlin E.
156
results:
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Online (156)
Mediatypes
Articles (Online) (68)
OpenAccess-fulltext (88)
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1
Genetic constraint at single amino acid resolution in prote..:
Zhang, Xiaolei
;
Theotokis, Pantazis I.
;
Li, Nicholas
...
Genome Medicine. 16 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
2
Investigating the role of common cis-regulatory variants in..:
Wigdor, Emilie M.
;
Samocha, Kaitlin E.
;
Eberhardt, Ruth Y.
...
Scientific Reports. 14 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
3
Reduced reproductive success is associated with selective c..:
Gardner, Eugene J.
;
Neville, Matthew D. C.
;
Samocha, Kaitlin E.
...
Nature. 603 (2022) 7903 - p. 858-863 , 2022
Link:
https://doi.org/10.1038/..
?
4
A cross-disorder dosage sensitivity map of the human genome:
Collins, Ryan L.
;
Glessner, Joseph T.
;
Porcu, Eleonora
...
Cell. 185 (2022) 16 - p. 3041-3055.e25 , 2022
Link:
https://doi.org/10.1016/..
?
5
Genetic risk factors have a substantial impact on healthy l..:
Jukarainen, Sakari
;
Kiiskinen, Tuomo
;
Kuitunen, Sara
...
Nature Medicine. 28 (2022) 9 - p. 1893-1901 , 2022
Link:
https://doi.org/10.1038/..
?
6
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/..
?
7
The contribution of X-linked coding variation to severe dev..:
Martin, Hilary C.
;
Gardner, Eugene J.
;
Samocha, Kaitlin E.
...
Nature Communications. 12 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
8
Non-coding region variants upstream of MEF2C cause severe d..:
Wright, Caroline F.
;
Quaife, Nicholas M.
;
Ramos-Hernández, Laura
...
The American Journal of Human Genetics. 108 (2021) 6 - p. 1083-1094 , 2021
Link:
https://doi.org/10.1016/..
?
9
Addendum: The mutational constraint spectrum quantified fro..:
Gudmundsson, Sanna
;
Karczewski, Konrad J.
;
Francioli, Laurent C.
...
Nature. 597 (2021) 7874 - p. E3-E4 , 2021
Link:
https://doi.org/10.1038/..
?
10
The mutational constraint spectrum quantified from variatio..:
Karczewski, Konrad J.
;
Francioli, Laurent C.
;
Tiao, Grace
...
Nature. 581 (2020) 7809 - p. 434-443 , 2020
Link:
https://doi.org/10.1038/..
?
11
Evidence for 28 genetic disorders discovered by combining h..:
Kaplanis, Joanna
;
Samocha, Kaitlin E.
;
Wiel, Laurens
...
Nature. 586 (2020) 7831 - p. 757-762 , 2020
Link:
https://doi.org/10.1038/..
?
12
Exome sequencing in schizophrenia-affected parent–offspring..:
Howrigan, Daniel P.
;
Rose, Samuel A.
;
Samocha, Kaitlin E.
...
Nature Neuroscience. 23 (2020) 2 - p. 185-193 , 2020
Link:
https://doi.org/10.1038/..
?
13
Gene family information facilitates variant interpretation ..:
EuroEPINOMICS-RES Consortium
;
Lal, Dennis
;
May, Patrick
...
Genome Medicine. 12 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
?
14
Contribution of retrotransposition to developmental disorde..:
Gardner, Eugene J.
;
Prigmore, Elena
;
Gallone, Giuseppe
...
Nature Communications. 10 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1038/..
?
15
Reply to 'Selective effects of heterozygous protein-truncat..:
Cassa, Christopher A.
;
Weghorn, Donate
;
Balick, Daniel J.
...
Nature Genetics. 51 (2018) 1 - p. 3-4 , 2018
Link:
https://doi.org/10.1038/..
1-15