Tomoki T Nomakuchi
6PUBLICATIONS
16CO-AUTHORS
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Publications (6)
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|Apr 29, 2025
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.Roser Urreizti, Jessica Vissicchio, Mohamed Idries
|Jul 20, 2024
Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.Tomoki T Nomakuchi, Eden Y Teferedegn, Dong Li
|Feb 14, 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.Kelly J Clark, Emily E Lubin, Elizabeth M Gonzalez
|Mar 13, 2023
Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome.Tomoki T Nomakuchi, Cesar Augusto P Alves, Lauren A Beslow
|Feb 16, 2023
Expanding the reproductive organ phenotype of CHD7-spectrum disorder.Tomoki T Nomakuchi, Melinda Danowitz, Blythe Stewart
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Frequent Collaborators
3 joint publications
Elizabeth J Bhoj
2 joint publications
Andrew K Sobering
1 joint publications
Jason Van Batavia
1 joint publications
Kelly J Clark
1 joint publications
Emily E Lubin
1 joint publications
Elizabeth M Gonzalez
1 joint publications
Annabel K Sangree
1 joint publications
Dana E Layo-Carris
1 joint publications
Emily L Durham
1 joint publications
Rebecca C Ahrens-Nicklas
