Tomoki T. Nomakuchi

Pediatrics

3401 Civic Ctr Blvd
Philadelphia, PA 19104

Last Updated: 09/26/2026

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Found 17 publications

Loss-of-function variants in EPHX3 cause nonsyndromic epidermal differentiation disorders.

Loss-of-function variants in EPHX3 cause nonsyndromic epidermal differentiation disorders.

Journal: The British journal of dermatology

Published: March 02, 2026

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

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

Journal: medRxiv : the preprint server for health sciences

Published: January 02, 2026

Clinical and Neurodevelopmental Course in a Case of EFNB1-Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis.

Clinical and Neurodevelopmental Course in a Case of EFNB1-Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis.

Journal: Molecular genetics & genomic medicine

Published: July 10, 2025

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.

Journal: American journal of medical genetics. Part A

Published: March 13, 2025

Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies.

Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies.

Journal: HGG advances

Published: February 26, 2025

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 05, 2024

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

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

Journal: American journal of medical genetics. Part A

Published: June 25, 2024

NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disorders.

NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disorders.

Journal: bioRxiv : the preprint server for biology

Published: February 14, 2024

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.

Journal: Nature communications

Published: August 30, 2023

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.

Journal: medRxiv : the preprint server for health sciences

Published: August 23, 2023

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

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

Journal: The Journal of biological chemistry

Published: May 09, 2023

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

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

Journal: bioRxiv : the preprint server for biology

Published: March 30, 2023

Showing 1-12 of 17

Last Updated: 09/26/2026