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Lake, Nicole J.
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1

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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2

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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3

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/..
 
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4

Mainstreaming proteomics into rare disease diagnostics:

Hock, Daniella H. ; Compton, Alison G. ; Amarasekera, Sumudu S.C....
Pathology.  54 (2022)  - p. S17 , 2022
Link: https://doi.org/10.1016/..
 
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5

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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6

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/..
 
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7

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Rec..:

Frazier, Ann E. ; Compton, Alison G. ; Kishita, Yoshihito...
Med.  2 (2021)  1 - p. 49-73.e10 , 2021
Link: https://doi.org/10.1016/..
 
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8

A patient with homozygous nonsense variants in two Leigh sy..:

Lake, Nicole J. ; Formosa, Luke E. ; Stroud, David A....
Human Mutation.  40 (2019)  7 - p. 893-898 , 2019
Link: https://doi.org/10.1002/..
 
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9

Estimating prevalence for limb-girdle muscular dystrophy ba..:

Liu, Wei ; Pajusalu, Sander ; Lake, Nicole J....
Genetics in Medicine.  21 (2019)  11 - p. 2512-2520 , 2019
Link: https://doi.org/10.1038/..
 
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10

Leigh syndrome caused by mutations in MTFMT is associated w..:

Hayhurst, Hannah ; de Coo, Irenaeus F. M. ; Piekutowska‐Abramczuk, Dorota...
Annals of Clinical and Translational Neurology.  6 (2019)  3 - p. 515-524 , 2019
Link: https://doi.org/10.1002/..
 
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11

ATAD3 gene cluster deletions cause cerebellar dysfunction a..:

Desai, Radha ; Frazier, Ann E. ; Durigon, Romina...
Brain.  140 (2017)  6 - p. 1595-1610 , 2017
Link: https://doi.org/10.1093/..
 
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12

TRAK2, a novel regulator of ABCA1 expression, cholesterol e..:

Lake, Nicole J ; Taylor, Rachael L ; Trahair, Hugh...
European Heart Journal.  38 (2017)  48 - p. 3579-3587 , 2017
Link: https://doi.org/10.1093/..
 
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13

Leigh Syndrome: Neuropathology and Pathogenesis:

Lake, Nicole J. ; Bird, Matthew J. ; Isohanni, Pirjo.
Journal of Neuropathology & Experimental Neurology.  74 (2015)  6 - p. 482-492 , 2015
Link: https://doi.org/10.1097/..
 
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14

Leigh syndrome: One disorder, more than 75 monogenic causes:

Lake, Nicole J. ; Compton, Alison G. ; Rahman, Shamima.
Annals of Neurology.  79 (2015)  2 - p. 190-203 , 2015
Link: https://doi.org/10.1002/..
 
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15

Deep Mutational Scanning in Disease-related Genes with Satu..:

Ma, Kaiyue ; Ng, Kenneth K ; Huang, Shushu...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10592615/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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