Publications by authors named "Tomoki Nomakuchi"

Claim this Profile
T
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tomoki T Nomakuchi

Am J Med Genet A· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies.
Emily E Lubin, Elizabeth M Gonzalez, Annabel K Sangree, Emily L Durham, Hannah Klinkhammer, Tomoki T Nomakuchi

HGG Adv· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Anton Safonov, Tomoki T Nomakuchi, Elizabeth Chao, Carrie Horton, Jill S Dolinsky

Nat Commun· April 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Nour Elkhateeb, Renarta Crookes, Michael Spiller, Lisa Pavinato, Flavia Palermo, Tomoki Nomakuchi

Genet Med· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
U
Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.
Tomoki T Nomakuchi, Eden Y Teferedegn, Dong Li, Kayla J Muirhead, Holly Dubbs

Am J Med Genet A· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome.
Tomoki T Nomakuchi, Cesar Augusto P Alves, Lauren A Beslow, Deborah Zarnow, Neera Goyal

Neuropediatrics· February 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disorders.
Kelly J Clark, Emily E Lubin, Elizabeth M Gonzalez, Annabel K Sangree, Dana E Layo-Carris, Tomoki T Nomakuchi

bioRxiv· February 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Case of INPP5E-Related Joubert Syndrome: Connecting Evolving Phenotype With Novel Genotype.
Nankee Kumar, Tomoki Nomakuchi, Arastoo Vossough, Jacqueline M M Leonard, Holly Dubbs

Pediatr Neurol· August 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.
Audrey G O'Neill, Anika L Burrell, Michael Zech, Orly Elpeleg, Tamar Harel, Tomoki Nomakuchi

J Biol Chem· August 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A genotype-first approach identifies high incidence of pathogenic variants with distinct disease associations.
Anton Safonov, Tomoki T Nomakuchi, Elizabeth Chao, Carrie Horton, Jill S Dolinsky

medRxiv· August 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanding the reproductive organ phenotype of CHD7-spectrum disorder.
Tomoki T Nomakuchi, Melinda Danowitz, Blythe Stewart, Jacqueline Leonard, Kosuke Izumi

Am J Med Genet A· May 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure.
Audrey G O'Neill, Anika L Burrell, Michael Zech, Orly Elpeleg, Tamar Harel, Tomoki Nomakuchi

bioRxiv· March 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy.
Luciano E Marasco, Gwendal Dujardin, Rui Sousa-Luís, Ying Hsiu Liu, Jose N Stigliano, Tomoki Nomakuchi

Cell· June 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Gene-specific nonsense-mediated mRNA decay targeting for cystic fibrosis therapy.
Young Jin Kim, Tomoki Nomakuchi, Foteini Papaleonidopoulou, Lucia Yang, Qian Zhang

Nat Commun· May 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.
K Taylor Wild, Tomoki T Nomakuchi, Sarah E Sheppard, Karla F Leavens, Diva D De León

Am J Med Genet A· April 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice.
Rahul Sinha, Young Jin Kim, Tomoki Nomakuchi, Kentaro Sahashi, Yimin Hua

Nucleic Acids Res· June 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mechanism of Nonsense-Mediated mRNA Decay Stimulation by Splicing Factor SRSF1.
Isabel Aznarez, Tomoki T Nomakuchi, Jaclyn Tetenbaum-Novatt, Mohammad Alinoor Rahman, Oliver Fregoso

Cell Rep· May 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Antisense oligonucleotide-directed inhibition of nonsense-mediated mRNA decay.
Tomoki T Nomakuchi, Frank Rigo, Isabel Aznarez, Adrian R Krainer

Nat Biotechnol· February 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pathological impact of SMN2 mis-splicing in adult SMA mice.
Kentaro Sahashi, Karen K Y Ling, Yimin Hua, John Erby Wilkinson, Tomoki Nomakuchi

EMBO Mol Med· October 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis