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Nomakuchi, Tomoki T.
17  results:
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1

Utility of genome sequencing in exome‐negative pediatric pa..:

Nomakuchi, Tomoki T. ; Teferedegn, Eden Y. ; Li, Dong...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Expanding the reproductive organ phenotype of CHD7‐spectrum..:

Nomakuchi, Tomoki T. ; Danowitz, Melinda ; Stewart, Blythe...
American Journal of Medical Genetics Part A.  191 (2023)  5 - p. 1418-1424 , 2023
Link: https://doi.org/10.1002/..
 
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3

Hyperinsulinism in an individual with an EP300 variant of R..:

Wild, K. Taylor ; Nomakuchi, Tomoki T. ; Sheppard, Sarah E....
American Journal of Medical Genetics Part A.  185 (2021)  4 - p. 1251-1255 , 2021
Link: https://doi.org/10.1002/..
 
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4

Mechanism of Nonsense-Mediated mRNA Decay Stimulation by Sp..:

Aznarez, Isabel ; Nomakuchi, Tomoki T. ; Tetenbaum-Novatt, Jaclyn...
Cell Reports.  23 (2018)  7 - p. 2186-2198 , 2018
Link: https://doi.org/10.1016/..
 
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5

Antisense oligonucleotide–directed inhibition of nonsense-m..:

Nomakuchi, Tomoki T ; Rigo, Frank ; Aznarez, Isabel.
Nature Biotechnology.  34 (2015)  2 - p. 164-166 , 2015
Link: https://doi.org/10.1038/..
 
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6

A genotype-first approach identifies high incidence of NF1 ..:

Safonov, Anton ; Nomakuchi, Tomoki T ; Chao, Elizabeth...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10441497/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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7

Hyperinsulinism in an individual with an EP300 variant of R..:

Wild, K. Taylor ; Nomakuchi, Tomoki T ; Sheppard, Sarah E...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8621558/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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8

Mechanism of Nonsense-Mediated mRNA Decay Stimulation by Sp..:

Aznarez, Isabel ; Nomakuchi, Tomoki T ; Tetenbaum-Novatt, Jaclyn...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5999336/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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9

Antisense-oligonucleotide-directed inhibition of nonsense-m..:

Nomakuchi, Tomoki T ; Rigo, Frank ; Aznarez, Isabel.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4744113/.  , 2015
Link: http://www.ncbi.nlm.nih...
 
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10

A Case of INPP5E-Related Joubert Syndrome: Connecting Evolv..:

Kumar, Nankee ; Nomakuchi, Tomoki ; Vossough, Arastoo...
Pediatric Neurology.  145 (2023)  - p. 112-114 , 2023
Link: https://doi.org/10.1016/..
 
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11

Neurodevelopmental disorder mutations in the purine biosynt..:

O'Neill, Audrey G. ; Burrell, Anika L. ; Zech, Michael...
Journal of Biological Chemistry.  299 (2023)  8 - p. 105012 , 2023
Link: https://doi.org/10.1016/..
 
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12

Counteracting chromatin effects of a splicing-correcting an..:

Marasco, Luciano E. ; Dujardin, Gwendal ; Sousa-Luís, Rui...
Cell.  185 (2022)  12 - p. 2057-2070.e15 , 2022
Link: https://doi.org/10.1016/..
 
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13

Gene-specific nonsense-mediated mRNA decay targeting for cy..:

Kim, Young Jin ; Nomakuchi, Tomoki ; Papaleonidopoulou, Foteini...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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14

Antisense oligonucleotides correct the familial dysautonomi..:

Sinha, Rahul ; Kim, Young Jin ; Nomakuchi, Tomoki...
Nucleic Acids Research.  46 (2018)  10 - p. 4833-4844 , 2018
Link: https://doi.org/10.1093/..
 
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15

Pathological impact ofSMN2mis‐splicing in adultSMAmice:

Sahashi, Kentaro ; Ling, Karen K. Y. ; Hua, Yimin...
EMBO Molecular Medicine.  5 (2013)  10 - p. 1586-1601 , 2013
Link: https://doi.org/10.1002/..
 
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