Tomohiro Kohmoto

发表

Detection of 1p36 deletion by clinical exome-first diagnostic approach

K. Masuda, I. Imoto, S. Kagami, 2016, Human Genome Variation.

A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome

K. Masuda, I. Imoto, S. Kagami, 2016, Human Genome Variation.

The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection

K. Masuda, I. Imoto, I. Yokota, 2017, Human Genome Variation.

A unique TBX5 microdeletion with microinsertion detected in patient with Holt–Oram syndrome

H. Kurahashi, K. Masuda, I. Imoto, 2015, American journal of medical genetics. Part A.

A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome

K. Masuda, I. Imoto, S. Kagami, 2016, Human Genome Variation.

A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome

K. Masuda, I. Imoto, N. Okamoto, 2015, Human Genome Variation.

Deep intronic GPR143 mutation in a Japanese family with ocular albinism

K. Masuda, I. Imoto, N. Okamoto, 2015, Scientific Reports.

Frequent silencing of the candidate tumor suppressor TRIM58 by promoter methylation in early-stage lung adenocarcinoma

Kazuya Kondo, Kiyoshi Masuda, A. Tangoku, 2016, Oncotarget.

Claudin-6 is a single prognostic marker and functions as a tumor-promoting gene in a subgroup of intestinal type gastric cancer

K. Masuda, I. Imoto, D. Ichikawa, 2019, Gastric Cancer.

ADAM17 selectively activates the IL‐6 trans‐signaling/ERK MAPK axis in KRAS‐addicted lung cancer

S. Rose-John, M. Tate, B. Jenkins, 2019, EMBO molecular medicine.

TP63 mutation mapping information in TP63 mutation-associated syndromes

I. Imoto, Y. Harazono, T. Yoda, 2022, Advances in Oral and Maxillofacial Surgery.

Corrected Nordheim's Rule in high concentraition Al-Mg solid solution

M. Ikeda, S. Komatsu, Tomohiro Kohmoto, 1998 .

A 590 kb deletion caused by non‐allelic homologous recombination between two LINE‐1 elements in a patient with mesomelia‐synostosis syndrome

K. Masuda, I. Imoto, T. Naruto, 2017, American journal of medical genetics. Part A.

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements

H. Kurahashi, K. Masuda, I. Imoto, 2017, Molecular Cytogenetics.

Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study

K. Matsuo, Hidemi Ito, I. Imoto, 2022, Cancer science.

Prognostic significance of GAD1 overexpression in patients with resected lung adenocarcinoma

A. Tangoku, K. Masuda, K. Kondo, 2019, Cancer medicine.

Tumor-promoting function and prognostic significance of the RNA-binding protein T-cell intracellular antigen-1 in esophageal squamous cell carcinoma

K. Masuda, I. Imoto, D. Ichikawa, 2016, Oncotarget.

A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation

K. Masuda, I. Imoto, S. Kagami, 2018, American journal of medical genetics. Part A.

Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis

T. Komori, K. Masuda, I. Imoto, 2017, Human Genome Variation.

Construction of a combinatorial pipeline using two somatic variant calling methods for whole exome sequence data of gastric cancer.

K. Masuda, I. Imoto, D. Ichikawa, 2017, The journal of medical investigation : JMI.

Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer

Y. Kamatani, Y. Okada, T. Kawaguchi, 2020, Nature Communications.

Genome-wide association meta-analysis identifies novel GP2 gene risk variants for pancreatic cancer in the Japanese population

Y. Kamatani, Y. Okada, T. Kawaguchi, 2018 .

KH-type splicing regulatory protein is involved in esophageal squamous cell carcinoma progression

A. Tangoku, K. Masuda, I. Imoto, 2017, Oncotarget.

Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection

K. Masuda, I. Imoto, N. Okamoto, 2017, Human Genome Variation.

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements

H. Kurahashi, K. Masuda, I. Imoto, 2017, Molecular Cytogenetics.

Functionally confirmed compound heterozygous ADAM17 missense loss-of-function variants cause neonatal inflammatory skin and bowel disease 1

K. Horiuchi, K. Masuda, I. Imoto, 2021, Scientific Reports.

A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome

T. Morio, K. Masuda, I. Imoto, 2016, Human Genome Variation.

A 16q22.2-q23.1 deletion identified in a male infant with West syndrome

I. Imoto, S. Kagami, K. Mori, 2019, Brain and Development.

Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

K. Masuda, I. Imoto, Y. Makita, 2019, Human Genome Variation.

Primary microcephaly caused by novel compound heterozygous mutations in ASPM

K. Masuda, I. Imoto, N. Okamoto, 2018, Human Genome Variation.

A novel PTCH1 mutation in a patient with Gorlin syndrome

T. Komori, I. Imoto, T. Naruto, 2014, Human Genome Variation.

A FRMD7 variant in a Japanese family causes congenital nystagmus

T. Komori, I. Imoto, T. Naruto, 2015, Human Genome Variation.