| Aicardi-Goutieres syndrome is caused by IFIH1 mutations H Oda, K Nakagawa, J Abe, T Awaya, M Funabiki, A Hijikata, ... The American Journal of Human Genetics 95 (1), 121-125, 2014 | 241 | 2014 |
| Generation of skeletal muscle stem/progenitor cells from murine induced pluripotent stem cells Y Mizuno, H Chang, K Umeda, A Niwa, T Iwasa, T Awaya, S Fukada, ... The FASEB Journal 24 (7), 2245-2253, 2010 | 198 | 2010 |
| Early pathogenesis of Duchenne muscular dystrophy modelled in patient-derived human induced pluripotent stem cells E Shoji, H Sakurai, T Nishino, T Nakahata, T Heike, T Awaya, N Fujii, ... Scientific reports 5 (1), 12831, 2015 | 125 | 2015 |
| Selective development of myogenic mesenchymal cells from human embryonic and induced pluripotent stem cells T Awaya, T Kato, Y Mizuno, H Chang, A Niwa, K Umeda, T Nakahata, ... PloS one 7 (12), e51638, 2012 | 94 | 2012 |
| Prenatal neurogenesis induction therapy normalizes brain structure and function in Down syndrome mice A Nakano-Kobayashi, T Awaya, I Kii, Y Sumida, Y Okuno, S Yoshida, ... Proceedings of the National Academy of Sciences 114 (38), 10268-10273, 2017 | 92 | 2017 |
| Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients F Sekiguchi, Y Tsurusaki, N Okamoto, KW Teik, S Mizuno, H Suzumura, ... Journal of human genetics 64 (12), 1173-1186, 2019 | 73 | 2019 |
| A combination therapy of whole lung lavage and GM‐CSF inhalation in pulmonary alveolar proteinosis H Yamamoto, E Yamaguchi, H Agata, N Kandatsu, T Komatsu, S Kawai, ... Pediatric pulmonology 43 (8), 828-830, 2008 | 59 | 2008 |
| Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome A Knaus, T Awaya, I Helbig, Z Afawi, M Pendziwiat, J Abu‐Rachma, ... Human mutation 37 (8), 737-744, 2016 | 56 | 2016 |
| A skeletal muscle model of infantile-onset Pompe disease with patient-specific iPS cells T Yoshida, T Awaya, T Jonouchi, R Kimura, S Kimura, T Era, T Heike, ... Scientific Reports 7 (1), 13473, 2017 | 48 | 2017 |
| Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi–Goutières syndrome/familial chilblain lupus J Abe, K Izawa, R Nishikomori, T Awaya, T Kawai, T Yasumi, N Hiragi, ... Rheumatology 52 (2), 406-408, 2013 | 46 | 2013 |
| A nationwide survey of Aicardi–Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese … J Abe, K Nakamura, R Nishikomori, M Kato, N Mitsuiki, K Izawa, T Awaya, ... Rheumatology 53 (3), 448-458, 2014 | 44 | 2014 |
| Unusual sensory features are related to resting-state cardiac vagus nerve activity in autism spectrum disorders K Matsushima, J Matsubayashi, M Toichi, Y Funabiki, T Kato, T Awaya, ... Research in Autism Spectrum Disorders 25, 37-46, 2016 | 43 | 2016 |
| Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia M Ajiro, T Awaya, YJ Kim, K Iida, M Denawa, N Tanaka, R Kurosawa, ... Nature communications 12 (1), 4507, 2021 | 38 | 2021 |
| MicroRNA profiling in adults with high-functioning autism spectrum disorder M Nakata, R Kimura, Y Funabiki, T Awaya, T Murai, M Hagiwara Molecular brain 12, 1-4, 2019 | 35 | 2019 |
| An epigenetic biomarker for adult high-functioning autism spectrum disorder R Kimura, M Nakata, Y Funabiki, S Suzuki, T Awaya, T Murai, M Hagiwara Scientific reports 9 (1), 13662, 2019 | 34 | 2019 |
| Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+ C18: 1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity G Tajima, K Hara, M Tsumura, R Kagawa, S Okada, N Sakura, ... Molecular Genetics and Metabolism 122 (3), 67-75, 2017 | 34 | 2017 |
| Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts K Iwama, T Mizuguchi, J Takanashi, H Shibayama, M Shichiji, S Ito, ... Clinical Genetics 92 (2), 180-187, 2017 | 32 | 2017 |
| Ttyh1, a Ca2+‐binding protein localized to the endoplasmic reticulum, is required for early embryonic development T Kumada, Y Yamanaka, A Kitano, M Shibata, T Awaya, T Kato, K Okawa, ... Developmental Dynamics 239 (8), 2233-2245, 2010 | 30 | 2010 |
| Variations in early gross motor milestones and in the age of walking in Japanese children S Kimura‐Ohba, A Sawada, Y Shiotani, S Matsuzawa, T Awaya, H Ikeda, ... Pediatrics International 53 (6), 950-955, 2011 | 28 | 2011 |
| Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy I Munteanu, N Ramachandran, A Ruggieri, T Awaya, I Nishino, ... Neurology 84 (16), 1714-1716, 2015 | 26 | 2015 |
