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1

Genomic diagnosis of rare pediatric disease in the United K..:

Wright, CF ; Campbell, P ; Eberhardt, RY...
doi:10.1056/nejmoa2209046. , 2023

Link: https://doi.org/10.1056/..

2

Genomic diagnosis of rare pediatric disease in the United K..:

Wright, CF ; Campbell, P ; Eberhardt, RY...
orcid:0000-0003-2958-5076 (Wright, Caroline). , 2023

Link: http://hdl.handle.net/10..

3

Non-coding region variants upstream of MEF2C cause severe d..:

Wright, CF ; Quaife, NM ; Ramos-Hernández, L...
American Journal of Human Genetics. , 2021

Link: http://hdl.handle.net/10..

4

The contribution of X-linked coding variation to severe dev..:

Martin, HC ; Gardner, EJ ; Samocha, KE...
https://discovery.ucl.ac.uk/id/eprint/10121927/1/s41467-020-20852-3.pdf. , 2021

Link: https://discovery.ucl.ac..

5

Author Correction: The mutational constraint spectrum quant..:

Karczewski, KJ ; Francioli, LC ; Tiao, G...
Nature. , 2021

Link: http://hdl.handle.net/10..

6

The mutational constraint spectrum quantified from variatio..:

Gudmundsson, S ; Karczewski, KJ ; Francioli, LC...
Nature. , 2020

Link: http://hdl.handle.net/10..

7

Polygenic transmission disequilibrium confirms that common ..:

Walters, RK ; Kosmicki, JA ; Grove, J...
doi:10.1038/ng.3863. , 2020

Link: https://doi.org/10.1038/..

8

Gene family information facilitates variant interpretation ..:

Lal, D ; May, P ; Perez-Palma, E...
Genome Medicine: medicine in the post-genomic era. , 2020

Link: http://hdl.handle.net/10..

9

Evidence for 28 genetic disorders discovered by combining h..:

Kaplanis, J ; Samocha, KE ; Wiel, L...
https://discovery.ucl.ac.uk/id/eprint/10133185/1/Ryten_797787v3.full.pdf. , 2020

Link: https://discovery.ucl.ac..

10

Evidence for 28 genetic disorders discovered by combining h..:

Kaplanis, J ; Samocha, KE ; Wiel, L...
Kaplanis , J , Samocha , KE , Wiel , L , Zhang , Z , Arvai , KJ , Eberhardt , RY , Gallone , G , Lelieveld , SH , Martin , HC , McRae , JF , Short , PJ , Torene , RI , de , B E & Retterer , K 2020 , ' Evidence for 28 genetic disorders discovered by combining healthcare and research data ' , Nature , vol. 586 , no. 7831 , pp. 757-762 . https://doi.org/10.1038/s41586-020-2832-5. , 2020

Link: https://research.manches..

11

Large-Scale Exome Sequencing Study Implicates Both Developm..:

Satterstrom, F Kyle ; Kosmicki, Jack A ; Wang, Jiebiao...
info:eu-repo/semantics/altIdentifier/pmid/31981491. , 2020

Link: http://hdl.handle.net/23..

12

The mutational constraint spectrum quantified from variatio..:

Karczewski, KJ ; Francioli, LC ; Tiao, G...
Nature. , 2020

Link: http://hdl.handle.net/10..

13

Polygenic transmission disequilibrium confirms that common ..:

Weiner, DJ ; Wigdor, EM ; Ripke, S...
https://discovery.ucl.ac.uk/id/eprint/10047092/1/nihms868387.pdf. , 2017

Link: https://discovery.ucl.ac..

14

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

Lek, M ; Karczewski, KJ ; Minikel, EV...
Nature. , 2016

Link: http://hdl.handle.net/10..

15

Genetic risk for autism spectrum disorders and neuropsychia..:

Sanders, Stephan ; Robinson, EB ; St, B...
qt93q0f583. , 2016

Link: https://escholarship.org..

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