| SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7 S Narumi, N Amano, T Ishii, N Katsumata, K Muroya, M Adachi, ... Nature genetics 48 (7), 792-797, 2016 | 328 | 2016 |
| Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients S Narumi, K Muroya, Y Asakura, M Adachi, T Hasegawa The Journal of Clinical Endocrinology & Metabolism 95 (4), 1981-1985, 2010 | 123 | 2010 |
| TSHR Mutations as a Cause of Congenital Hypothyroidism in Japan: A Population-Based Genetic Epidemiology Study S Narumi, K Muroya, Y Abe, M Yasui, Y Asakura, M Adachi, T Hasegawa The Journal of Clinical Endocrinology & Metabolism 94 (4), 1317-1323, 2009 | 116 | 2009 |
| Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients S Narumi, K Muroya, Y Asakura, M Aachi, T Hasegawa The Journal of Clinical Endocrinology & Metabolism 96 (11), E1838-E1842, 2011 | 102 | 2011 |
| Identification and Functional Characterization of Two Novel NPR2 Mutations in Japanese Patients With Short Stature N Amano, T Mukai, Y Ito, S Narumi, T Tanaka, S Yokoya, T Ogata, ... The Journal of Clinical Endocrinology & Metabolism 99 (4), E713-E718, 2014 | 72 | 2014 |
| Quantitative and Sensitive Detection of GNAS Mutations Causing McCune-Albright Syndrome with Next Generation Sequencing S Narumi, K Matsuo, T Ishii, Y Tanahashi, T Hasegawa PloS one 8 (3), e60525, 2013 | 60 | 2013 |
| Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations H Shima, K Koehler, Y Nomura, K Sugimoto, A Satoh, T Ogata, M Fukami, ... Journal of medical genetics 55 (2), 81-85, 2018 | 59 | 2018 |
| Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes Y Nagata, S Narumi, Y Guan, BP Przychodzen, CM Hirsch, H Makishima, ... Blood, The Journal of the American Society of Hematology 132 (21), 2309-2313, 2018 | 54 | 2018 |
| Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature A Hattori, Y Katoh-Fukui, A Nakamura, K Matsubara, T Kamimaki, ... Endocrine journal 64 (10), 947-954, 2017 | 54 | 2017 |
| Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells R Matsumoto, H Suga, T Aoi, H Bando, H Fukuoka, G Iguchi, S Narumi, ... The Journal of Clinical Investigation 130 (2), 641-654, 2020 | 53 | 2020 |
| A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history L Jeffries, H Shima, W Ji, D Panisello‐Manterola, J McGrath, LM Bird, ... American journal of medical genetics Part A 176 (2), 415-420, 2018 | 45 | 2018 |
| Various types of LRP5 mutations in four patients with osteoporosis‐pseudoglioma syndrome: Identification of a 7.2‐kb microdeletion using oligonucleotide tiling … S Narumi, C Numakura, T Shiihara, C Seiwa, Y Nozaki, T Yamagata, ... American Journal of Medical Genetics Part A 152 (1), 133-140, 2010 | 44 | 2010 |
| Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism S Narumi, S Araki, N Hori, K Muroya, Y Yamamoto, Y Asakura, M Adachi, ... European journal of endocrinology 167 (5), 625-632, 2012 | 41 | 2012 |
| Genetic defects in pediatric-onset adrenal insufficiency in Japan N Amano, S Narumi, M Hayashi, M Takagi, K Imai, T Nakamura, ... European journal of endocrinology 177 (2), 187-194, 2017 | 37 | 2017 |
| Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients T Inoue, A Nakamura, M Iwahashi-Odano, K Tanase-Nakao, K Matsubara, ... Clinical Epigenetics 12, 1-14, 2020 | 36 | 2020 |
| Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype J Sarthy, J Zha, D Babushok, A Shenoy, JM Fan, G Wertheim, ... Blood advances 2 (2), 120-125, 2018 | 36 | 2018 |
| Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism M Takagi, T Ishii, M Inokuchi, N Amano, S Narumi, Y Asakura, K Muroya, ... Public Library of Science 7 (9), e46008, 2012 | 33 | 2012 |
| Comprehensive Next-Generation Sequencing Analyses of Hypoparathyroidism: Identification of Novel GCM2 Mutations T Mitsui, S Narumi, M Inokuchi, K Nagasaki, M Nakazawa, G Sasaki, ... The Journal of Clinical Endocrinology & Metabolism 99 (11), E2421-E2428, 2014 | 31 | 2014 |
| Mutation of a gene for thyroid transcription factor-1 (TITF1) in a patient with clinical features of resistance to thyrotropin K Nagasaki, S Narumi, T Asami, T Kikuchi, T Hasegawa, M Uchiyama Endocrine journal 55 (5), 875-878, 2008 | 31 | 2008 |
| Molecular and clinical analyses of two patients with UPD (16) mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology T Inoue, H Yagasaki, J Nishioka, A Nakamura, K Matsubara, S Narumi, ... Journal of medical genetics 56 (6), 413-418, 2019 | 29 | 2019 |
Tomonobu HasegawaVerified email at keio.jp
