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Lek, Monkol
240  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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