Personalized medicine with germline pathogenic variants: Importance of population‐ and region‐wide evidence

por Usui, Yoshiaki, Momozawa, Yukihide
Publicado 2023

Unique roles of rare variants in the genetics of complex diseases in humans

por Momozawa, Yukihide, Mizukami, Keijiro
Publicado 2020

Evidence of genetic contribution to patellar luxation in Toy Poodle puppies

por MAEDA, Kazuhiro, INOUE, Mai, TANAKA, Miho, MOMOZAWA, Yukihide
Publicado 2019

Characterization of Bacteria in Biopsies of Colon and Stools by High Throughput Sequencing of the V2 Region of Bacterial 16S rRNA Gene in Human

por Momozawa, Yukihide, Deffontaine, Valérie, Louis, Edouard, Medrano, Juan F.
Publicado 2011

Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing

por Kosugi, Shunichi, Momozawa, Yukihide, Liu, Xiaoxi, Terao, Chikashi, Kubo, Michiaki, Kamatani, Yoichiro
Publicado 2019

Detection of trait-associated structural variations using short-read sequencing

por Kosugi, Shunichi, Kamatani, Yoichiro, Harada, Katsutoshi, Tomizuka, Kohei, Momozawa, Yukihide, Morisaki, Takayuki, Terao, Chikashi
Publicado 2023

Blood lipid-related low-frequency variants in LDLR and PCSK9 are associated with onset age and risk of myocardial infarction in Japanese

por Tajima, Tomoyuki, Morita, Hiroyuki, Ito, Kaoru, Yamazaki, Tsutomu, Kubo, Michiaki, Komuro, Issei, Momozawa, Yukihide
Publicado 2018

Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort

por Casaletto, James, Parsons, Michael, Markello, Charles, Iwasaki, Yusuke, Momozawa, Yukihide, Spurdle, Amanda B., Cline, Melissa
Publicado 2022

Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data

por Kishikawa, Toshihiro, Momozawa, Yukihide, Ozeki, Takeshi, Mushiroda, Taisei, Inohara, Hidenori, Kamatani, Yoichiro, Kubo, Michiaki, Okada, Yukinori
Publicado 2019

Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population

por Yamamoto, Kenichi, Sakaue, Saori, Matsuda, Koichi, Murakami, Yoshinori, Kamatani, Yoichiro, Ozono, Keiichi, Momozawa, Yukihide, Okada, Yukinori
Publicado 2020

Comprehensive Analysis of Risk Factors for Periodontitis Focusing on the Saliva Microbiome and Polymorphism

por Toyama, Naoki, Ekuni, Daisuke, Matsui, Daisuke, Koyama, Teruhide, Nakatochi, Masahiro, Momozawa, Yukihide, Kubo, Michiaki, Morita, Manabu
Publicado 2021

Substantially Increased Plasma Coproporphyrin‐I Concentrations Associated With OATP1B1*15 Allele in Japanese General Population

por Suzuki, Yosuke, Sasamoto, Yuri, Koyama, Teruhide, Yoshijima, Chisato, Nakatochi, Masahiro, Kubo, Michiaki, Momozawa, Yukihide, Uehara, Ritei, Ohno, Keiko
Publicado 2020

Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes

por Mutai, Hideki, Momozawa, Yukihide, Kamatani, Yoichiro, Nakano, Atsuko, Sakamoto, Hirokazu, Takiguchi, Tetsuya, Nara, Kiyomitsu, Kubo, Michiaki, Matsunaga, Tatsuo
Publicado 2022

Performance comparison of four commercial human whole-exome capture platforms

por Shigemizu, Daichi, Momozawa, Yukihide, Abe, Testuo, Morizono, Takashi, Boroevich, Keith A., Takata, Sadaaki, Ashikawa, Kyota, Kubo, Michiaki, Tsunoda, Tatsuhiko
Publicado 2015

Relationship of hemoglobin level and plasma coproporphyrin‐I concentrations as an endogenous probe for phenotyping OATP1B

por Suzuki, Yosuke, Sasamoto, Yuri, Koyama, Teruhide, Yoshijima, Chisato, Oda, Ayako, Nakatochi, Masahiro, Kubo, Michiaki, Momozawa, Yukihide, Uehara, Ritei, Ohno, Keiko
Publicado 2021

A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation

por Iida, Aritoshi, Takeshita, Eri, Kosugi, Shunichi, Kamatani, Yoichiro, Momozawa, Yukihide, Kubo, Michiaki, Nakagawa, Eiji, Kurosawa, Kenji, Inoue, Ken, Goto, Yu-ichi
Publicado 2018

Susceptibility loci and polygenic architecture highlight population specific and common genetic features in inguinal hernias: genetics in inguinal hernias

por Hikino, Keiko, Koido, Masaru, Tomizuka, Kohei, Liu, Xiaoxi, Momozawa, Yukihide, Morisaki, Takayuki, Murakami, Yoshinori, The Biobank Japan Project, Mushiroda, Taisei, Terao, Chikashi
Publicado 2021

Diabetes and cancer risk: A Mendelian randomization study

por Goto, Atsushi, Yamaji, Taiki, Sawada, Norie, Momozawa, Yukihide, Kamatani, Yoichiro, Kubo, Michiaki, Shimazu, Taichi, Inoue, Manami, Noda, Mitsuhiko, Tsugane, Shoichiro, Iwasaki, Motoki
Publicado 2019

High-throughput functional evaluation of BRCA2 variants of unknown significance

por Ikegami, Masachika, Kohsaka, Shinji, Ueno, Toshihide, Momozawa, Yukihide, Inoue, Satoshi, Tamura, Kenji, Shimomura, Akihiko, Hosoya, Noriko, Kobayashi, Hiroshi, Tanaka, Sakae, Mano, Hiroyuki
Publicado 2020

Genetic variations predicting progression with docetaxel and novel androgen‐receptor pathway inhibitors

por Shiota, Masaki, Akamatsu, Shusuke, Sekine, Yuya, Kimura, Hiroko, Narita, Shintaro, Fujimoto, Naohiro, Terada, Naoki, Blas, Leandro, Habuchi, Tomonori, Kamoto, Toshiyuki, Momozawa, Yukihide, Eto, Masatoshi
Publicado 2023