Tomoko Uehara

30PUBLICATIONS
16CO-AUTHORS
Nanoscale characterisationCardiology (incl. cardiovascular diseases)Gene expression (incl. microarray and other genome-wide approaches)Major global burdens of diseaseNanoelectronics
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Publications (30)

|Jan 12, 2022
The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant.

Yurie Ogura, Tomoko Uehara, Kota Ujibe

|Oct 15, 2021
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome.

Eriko Nishi, Toshiki Takenouchi, Fuyuki Miya

|Oct 08, 2021
A patient with compound heterozygosity of SMPD4: Another example of utility of exome-based copy number analysis in autosomal recessive disorders.

Mamiko Yamada, Hisato Suzuki, Taiki Shima

|May 29, 2021
Clinical spectrum of individuals with de novo EBF3 variants or deletions.

Eriko Nishi, Tomoko Uehara, Kumiko Yanagi

|May 11, 2021
Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.

Tomoko Uehara, Rikako Sanuki, Yurie Ogura

|Mar 02, 2021
Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.

Mamiko Yamada, Masae Ono, Tomohiro Ishii

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Frequent Collaborators

22 joint publications

Toshiki Takenouchi

14 joint publications

Mamiko Yamada

13 joint publications

Hisato Suzuki

9 joint publications

Kenjiro Kosaki