Tomoki Nomakuchi

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 10 papers. Top paper: “A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations”.

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

Nature Communications(2025)10.1038/s41467-025-57077-1

N/A

0.428DataRank · unranked

14 citations

Tomoki Nomakuchi, Elizabeth Chao, Carolyn Horton, Jill S. Dolinsky, Amal Yussuf +23 more

Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63817

N/A

0.269DataRank · unranked

5 citations

Eden Yitna Teferedegn, Dong Li, Kayla Muirhead, Holly Dubbs, Jacqueline Leonard +12 more

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.03.15.532669

N/A

0.241DataRank · unranked

4 citations

Anika L. Burrell, Michael Zech, Orly Elpeleg, Tamar Harel, Simon Edvardson +6 more

Gene-specific nonsense-mediated mRNA decay targeting for cystic fibrosis therapy

Nature Communications(2022)10.1038/s41467-022-30668-y

N/A

0DataRank · unranked

41 citations

Tomoki Nomakuchi, Foteini Papaleonidopoulou, Lucia Yang, Qian Zhang, Adrian R. Krainer +1 more

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation

Journal of Biological Chemistry(2023)10.1016/j.jbc.2023.105012

N/A

0DataRank · unranked

17 citations

Anika L. Burrell, Michael Zech, Orly Elpeleg, Tamar Harel, Simon Edvardson +6 more

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons

medRxiv(2025)10.64898/2025.12.23.25342932

N/A

0DataRank · unranked

0 citations

Alyssa L. Rippert, Sabrina A. Santos De León, Elizabeth M. Gonzalez, Dong Li, Rajesh Angireddy +22 more

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

medRxiv(2023)10.1101/2023.08.08.23293676

N/A

0DataRank · unranked

4 citations

Tomoki Nomakuchi, Elizabeth Chao, Carolyn Horton, Jill S. Dolinsky, Amal Yussuf +12 more

A Case of INPP5E-Related Joubert Syndrome: Connecting Evolving Phenotype With Novel Genotype

Pediatric Neurology(2023)10.1016/j.pediatrneurol.2023.04.021

N/A

0DataRank · unranked

1 citations

Tomoki Nomakuchi, Arastoo Vossough, Jacqueline M.M. Leonard, Holly Dubbs, Sonika Agarwal +1 more

Gene-Specific Nonsense-Mediated mRNA Decay Targeting for Cystic Fibrosis Therapy

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.07.13.452144

N/A

0DataRank · unranked

5 citations

Tomoki Nomakuchi, Foteini Papaleonidopoulou, Adrian R. Krainer, Young Jin Kim

Towards a combined therapy for spinal muscular atrophy based on opposing effects of an antisense oligonucleotide on chromatin and splicing

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.09.24.461646

N/A

0DataRank · unranked

0 citations

Gwendal Dujardin, Rui Sousa‐Luís, Ying Hsiu Liu, José N. Stigliano, Tomoki Nomakuchi +4 more