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Lek, Monkol
240
results:
Search for persons
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Online (240)
Mediatypes
Articles (Online) (94)
OpenAccess-fulltext (146)
Sorted by: Relevance
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?
1
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/..
?
2
High-throughput assays to assess variant effects on disease:
Ma, Kaiyue
;
Gauthier, Logan O.
;
Cheung, Frances
..
Disease Models & Mechanisms. 17 (2024) 6 - p. , 2024
Link:
https://doi.org/10.1242/..
?
3
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/..
?
4
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/..
?
5
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/..
?
6
Development of Assays to Measure GNE Gene Potency and Gene ..:
Zygmunt, Deborah A.
;
Lam, Patricia
;
Ashbrook, Anna
...
Journal of Neuromuscular Diseases. 10 (2023) 5 - p. 797-812 , 2023
Link:
https://doi.org/10.3233/..
?
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
Profilin1 is required for prevention of mitotic catastrophe..:
Tian, Xuefei
;
Pedigo, Christopher E.
;
Li, Ke
...
Journal of Clinical Investigation. 133 (2023) 24 - p. , 2023
Link:
https://doi.org/10.1172/..
?
10
Multi-omics identifies large mitoribosomal subunit instabil..:
Amarasekera, Sumudu S C
;
Hock, Daniella H
;
Lake, Nicole J
...
Human Molecular Genetics. 32 (2023) 15 - p. 2441-2454 , 2023
Link:
https://doi.org/10.1093/..
?
11
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/..
?
12
Decoding the genetics of rare disease: an interview with Mo..:
Lek, Monkol
Disease Models & Mechanisms. 15 (2022) 6 - p. , 2022
Link:
https://doi.org/10.1242/..
?
13
A new phenotype of syndromic retinitis pigmentosa with myop..:
Liu, Yi‐Dan
;
Huang, Shu‐Shu
;
Li, Mei
...
Clinical Genetics. 101 (2022) 4 - p. 448-453 , 2022
Link:
https://doi.org/10.1111/..
?
14
Case Report: Two Families With HPDL Related Neurodegenerati..:
Micule, Ieva
;
Lace, Baiba
;
Wright, Nathan T.
...
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
15
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/..
1-15