E-LIB Suche - Ergebnisse für: Lek, M. (Monkol)

1

The UK10K project identifies rare variants in health and di..:

Walter, K. (Klaudia) ; Min, J.L. (Josine L.) ; Huang, J. (Jie)...
http://repub.eur.nl/pub/81634. , 2015

2

Author Correction: The mutational constraint spectrum quant..:

Karczewski, Konrad J ; Francioli, Laurent C ; Tiao, Grace...
Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, J., Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Watts, Nicholas A., Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O'Donnell-Luria, A.H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David.... , 2021

Link: https://scholarbank.nus...

3

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/..

4

Translating multiscale research in rare disease:

Hooper, Kirsty M. ; Justice, Monica J. ; Lek, Monkol..
Disease Models & Mechanisms. 17 (2024) 6 - p. , 2024

Link: https://doi.org/10.1242/..

5

Glis2 is an early effector of polycystin signaling and a ta..:

Zhang, Chao ; Rehman, Michael ; Tian, Xin...
Nature Communications. 15 (2024) 1 - p. , 2024

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

6

Deleterious heteroplasmic mitochondrial mutations are assoc..:

Hong, Yun Soo ; Battle, Stephanie L. ; Shi, Wen...
Nature Communications. 14 (2023) 1 - p. , 2023

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

7

Noncoding variants alter GATA2 expression in rhombomere 4 m..:

Tenney, Alan P. ; Di Gioia, Silvio Alessandro ; Webb, Bryn D....
Nature Genetics. 55 (2023) 7 - p. 1149-1163 , 2023

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

8

Flavones provide resistance to DUX4-induced toxicity via an..:

Cohen, Justin ; Huang, Shushu ; Koczwara, Katherine E....
Cell Death & Disease. 14 (2023) 11 - p. , 2023

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

9

Single-nucleus cross-tissue molecular reference maps toward..:

Eraslan, Gökcen ; Drokhlyansky, Eugene ; Anand, Shankara...
Science. 376 (2022) 6594 - p. , 2022

Link: https://doi.org/10.1126/..

10

Mitochondrial DNA variation across 56,434 individuals in gn..:

Laricchia, Kristen M. ; Lake, Nicole J. ; Watts, Nicholas A....
Genome Research. 32 (2022) 3 - p. 569-582 , 2022

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

11

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/..

12

Genetic variance in human disease – modelling the future of..:

Lek, Monkol ; Hmeljak, Julija ; Hooper, Kirsty M.
Disease Models & Mechanisms. 15 (2022) 6 - p. , 2022

Link: https://doi.org/10.1242/..

13

Neuromuscular disorders: finding the missing genetic diagno..:

Koczwara, Katherine E. ; Lake, Nicole J. ; DeSimone, Alec M..
Trends in Genetics. 38 (2022) 9 - p. 956-971 , 2022

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

14

Cystin genetic variants cause autosomal recessive polycysti..:

Yang, Chaozhe ; Harafuji, Naoe ; O'Connor, Amber K....
Scientific Reports. 11 (2021) 1 - p. , 2021

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

15

Cellular and animal models for facioscapulohumeral muscular..:

DeSimone, Alec M. ; Cohen, Justin ; Lek, Monkol.
Disease Models & Mechanisms. 13 (2020) 10 - p. , 2020

Link: https://doi.org/10.1242/..