E-LIB Suche - Ergebnisse für: MacArthur, Daniel G

1

Exploring the benefits, harms and costs of genomic newborn ..:

Baple, Emma L. ; Scott, Richard H. ; Banka, Siddharth...
Nature Medicine. , 2024

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

2

Integrating population genetics, stem cell biology and cell..:

Farbehi, Nona ; Neavin, Drew R. ; Cuomo, Anna S. E....
Nature Genetics. 56 (2024) 5 - p. 758-766 , 2024

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

3

Differences in 5'untranslated regions highlight the importa..:

Wieder, Nechama ; D'Souza, Elston N. ; Martin-Geary, Alexandra C....
Genome Biology. 25 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

4

Sequencing and characterizing short tandem repeats in the h..:

Tanudisastro, Hope A. ; Deveson, Ira W. ; Dashnow, Harriet.
Nature Reviews Genetics. 25 (2024) 7 - p. 460-475 , 2024

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

5

Genome and RNA sequencing boost neuromuscular diagnoses to ..:

Marchant, Rhett G. ; Bryen, Samantha J. ; Bahlo, Melanie...
Annals of Clinical and Translational Neurology. 11 (2024) 5 - p. 1250-1266 , 2024

Link: https://doi.org/10.1002/..

6

Discordant calls across genotype discovery approaches eluci..:

Atkinson, Elizabeth G. ; Artomov, Mykyta ; Loboda, Alexander A....
Genome Research. 33 (2023) 6 - p. 999-1005 , 2023

Link: https://doi.org/10.1101/..

7

The moral and practical urgency of increasing diversity in ..:

Ingles, Jodie ; MacArthur, Daniel G
European Heart Journal. 44 (2023) 48 - p. 5157-5159 , 2023

Link: https://doi.org/10.1093/..

8

The penetrance of rare variants in cardiomyopathy-associate..:

McGurk, Kathryn A. ; Zhang, Xiaolei ; Theotokis, Pantazis...
The American Journal of Human Genetics. 110 (2023) 9 - p. 1482-1495 , 2023

Link: https://doi.org/10.1016/..

9

Advanced variant classification framework reduces the false..:

Singer-Berk, Moriel ; Gudmundsson, Sanna ; Baxter, Samantha...
The American Journal of Human Genetics. 110 (2023) 9 - p. 1496-1508 , 2023

Link: https://doi.org/10.1016/..

10

Phenotype and genetic analysis of data collected within the..:

Kipkemoi, Patricia ; Kim, Heesu Ally ; Christ, Bjorn...
Neuron. 111 (2023) 18 - p. 2800-2810.e5 , 2023

Link: https://doi.org/10.1016/..

11

Single-cell genomics meets human genetics:

Cuomo, Anna S. E. ; Nathan, Aparna ; Raychaudhuri, Soumya..
Nature Reviews Genetics. 24 (2023) 8 - p. 535-549 , 2023

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

12

Whole-genome analysis of human embryonic stem cells enables..:

Merkle, Florian T. ; Ghosh, Sulagna ; Genovese, Giulio...
Cell Stem Cell. 29 (2022) 3 - p. 472-486.e7 , 2022

Link: https://doi.org/10.1016/..

13

Transcriptome variation in human tissues revealed by long-r..:

Glinos, Dafni A. ; Garborcauskas, Garrett ; Hoffman, Paul...
Nature. 608 (2022) 7922 - p. 353-359 , 2022

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

14

seqr: A web‐based analysis and collaboration tool for rare ..:

Pais, Lynn S. ; Snow, Hana ; Weisburd, Ben...
Human Mutation. , 2022

Link: https://doi.org/10.1002/..

15

Centers for Mendelian Genomics: A decade of facilitating ge..:

Baxter, Samantha M. ; Posey, Jennifer E. ; Lake, Nicole J....
Genetics in Medicine. 24 (2022) 4 - p. 784-797 , 2022

Link: https://doi.org/10.1016/..