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  • 2018
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Author

  • Shoichi Ohga
2018

A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia

Akamine, S., Ishizaki, Y., Sakai, Y., Torisu, H., Fukai, R., Miyake, N., Ohkubo, K., Koga, H., Sanefuji, M., Sakata, A., Kimura, M., Yamaguchi, S., Sakamoto, O., Hara, T., Saitsu, H., Matsumoto, N. & Ohga, S., Aug 2018, In : European Journal of Medical Genetics. 61, 8, p. 451-454 4 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

A rightward saccade to an unexpected stimulus as a marker for lateralised visuospatial attention /631/378/2649/1310 /631/378/2617/1795 /631/477/2811 article

Sanefuji, M., Yamashita, H., Torio, M., Katsuki, D., Akamine, S., Ishizaki, Y., Kishimoto, J., Sakai, Y., Takada, H., Yoshida, K. & Ohga, S., Dec 1 2018, In : Scientific reports. 8, 1, 7562.

Research output: Contribution to journalArticle

Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia

Sonoda, M., Ishimura, M., Ichimiya, Y., Terashi, E., Eguchi, K., Sakai, Y., Takada, H., Hama, A., Kanno, H., Toki, T., Ito, E. & Ohga, S., Aug 1 2018, In : International journal of hematology. 108, 2, p. 228-231 4 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Burden of Human Metapneumovirus and Respiratory Syncytial Virus Infections in Asthmatic Children

Furuta, T., Hasegawa, S., Mizutani, M., Iwai, T., Ohbuchi, N., Kawano, S., Tashiro, N., Uchida, M., Hasegawa, M., Motoyama, M., Sekino, T., Nakatsuka, K., Ichihara, K., Shirabe, K. & Ohga, S., Nov 1 2018, In : Pediatric Infectious Disease Journal. 37, 11, p. 1107-1111 5 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Cancer management in kabuki syndrome: The first case of wilms tumor and a literature review

Teranishi, H., Koga, Y., Nakashima, K., Morihana, E., Ishii, K., Sakai, Y., Taguchi, T., Oda, Y., Miyake, N., Matsumoto, N. & Ohga, S., Jul 1 2018, In : Journal of Pediatric Hematology/Oncology. 40, 5, p. 391-394 4 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Complement activation associated with ADAMTS13 deficiency may contribute to the characteristic glomerular manifestations in Upshaw-Schulman syndrome

Itami, H., Hara, S., Matsumoto, M., Imamura, S., Kanai, R., Nishiyama, K., Ishimura, M., Ohga, S., Yoshida, M., Tanaka, R., Ogawa, Y., Asada, Y., Sekita-Hatakeyama, Y., Hatakeyama, K. & Ohbayashi, C., Oct 2018, In : Thrombosis Research. 170, p. 148-155 8 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome

Toki, T., Yoshida, K., Wang, R. N., Nakamura, S., Maekawa, T., Goi, K., Katoh, M. C., Mizuno, S., Sugiyama, F., Kanezaki, R., Uechi, T., Nakajima, Y., Sato, Y., Okuno, Y., Sato-Otsubo, A., Shiozawa, Y., Kataoka, K., Shiraishi, Y., Sanada, M., Chiba, K. & 19 others, Tanaka, H., Terui, K., Sato, T., Kamio, T., Sakaguchi, H., Ohga, S., Kuramitsu, M., Hamaguchi, I., Ohara, A., Kanno, H., Miyano, S., Kojima, S., Ishiguro, A., Sugita, K., Kenmochi, N., Takahashi, S., Eto, K., Ogawa, S. & Ito, E., Sep 6 2018, In : American journal of human genetics. 103, 3, p. 440-447 8 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Diagnostic potential of stored dried blood spots for inborn errors of metabolism: A metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency

Kaku, N., Ihara, K., Hirata, Y., Yamada, K., Lee, S., Kanemasa, H., Motomura, Y., Baba, H., Tanaka, T., Sakai, Y., Maehara, Y. & Ohga, S., Oct 1 2018, In : Journal of Clinical Pathology. 71, 10, p. 885-889 5 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2

Akamine, S., Sagata, N., Sakai, Y., Kato, T. A., Nakahara, T., Matsushita, Y., Togao, O., Hiwatashi, A., Sanefuji, M., Ishizaki, Y., Torisu, H., Saitsu, H., Matsumoto, N., Hara, T., Sawa, A., Kano, S., Furue, M., Kanba, S., Shaw, C. A. & Ohga, S., 2018, In : Epilepsia Open. 3, 1, p. 81-85 5 p.

Research output: Contribution to journalArticle

Open Access
1 Citation (Scopus)

Effective infliximab therapy for the early regression of coronary artery aneurysm in Kawasaki disease

Nagatomo, Y., Muneuchi, J., Nakashima, Y., Nanishi, E., Shirozu, H., Watanabe, M., Uike, K., Nagata, H., Hirata, Y., Yamamura, K., Takahashi, Y., Okada, S., Suzuki, Y., Hasegawa, S. & Ohga, S., Nov 15 2018, In : International Journal of Cardiology. 271, p. 317-321 5 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Effective shunt closure for pulmonary hypertension and liver dysfunction in congenital portosystemic venous shunt

Uike, K., Nagata, H., Hirata, Y., Yamamura, K., Terashi, E., Matsuura, T., Morihana, E., Ohkubo, K., Ishii, K., Sakai, Y., Taguchi, T. & Ohga, S., Apr 2018, In : Pediatric Pulmonology. 53, 4, p. 505-511 7 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Fever and skin involvement at diagnosis predicting the intractable langerhans cell histiocytosis: 40 case-series in a single center

Kobayashi, T., Koga, Y., Ishimura, M., Nakashima, K., Kato, W., Ono, H., Sonoda, M., Eguchi, K., Fukano, R., Honjo, S., Oda, Y. & Ohga, S., Jan 1 2018, In : Journal of Pediatric Hematology/Oncology. 40, 3, p. e148-e153

Research output: Contribution to journalArticle

High incidence of progressive stenosis in aberrant left subclavian artery with right aortic arch

Muraoka, M., Nagata, H., Hirata, Y., Uike, K., Terashi, E., Morihana, E., Ochiai, M., Fujita, Y., Kato, K., Yamamura, K. & Ohga, S., Mar 1 2018, In : Heart and Vessels. 33, 3, p. 309-315 7 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
5 Citations (Scopus)

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

Takata, A., Miyake, N., Tsurusaki, Y., Fukai, R., Miyatake, S., Koshimizu, E., Kushima, I., Okada, T., Morikawa, M., Uno, Y., Ishizuka, K., Nakamura, K., Tsujii, M., Yoshikawa, T., Toyota, T., Okamoto, N., Hiraki, Y., Hashimoto, R., Yasuda, Y., Saitoh, S. & 26 others, Ohashi, K., Sakai, Y., Ohga, S., Hara, T., Kato, M., Nakamura, K., Ito, A., Seiwa, C., Shirahata, E., Osaka, H., Matsumoto, A., Takeshita, S., Tohyama, J., Saikusa, T., Matsuishi, T., Nakamura, T., Tsuboi, T., Kato, T., Suzuki, T., Saitsu, H., Nakashima, M., Mizuguchi, T., Tanaka, F., Mori, N., Ozaki, N. & Matsumoto, N., Jan 16 2018, In : Cell Reports. 22, 3, p. 734-747 14 p.

Research output: Contribution to journalArticle

33 Citations (Scopus)

Leucine-rich alpha-2 glycoprotein in the cerebrospinal fluid is a potential inflammatory biomarker for meningitis

Chong, P. F., Sakai, Y., Torisu, H., Tanaka, T., Furuno, K., Mizuno, Y., Ohga, S., Hara, T. & Kira, R., Sep 15 2018, In : Journal of the Neurological Sciences. 392, p. 51-55 5 p.

Research output: Contribution to journalArticle

Lipoteichoic acid anchor triggers Mincle to drive protective immunity against invasive group A Streptococcus infection

Imai, T., Matsumura, T., Mayer-Lambertz, S., Wells, C. A., Ishikawa, E., Butcher, S. K., Barnett, T. C., Walker, M. J., Imamura, A., Ishida, H., Ikebe, T., Miyamoto, T., Ato, M., Ohga, S., Lepenies, B., Van Sorge, N. M. & Yamasaki, S., Nov 6 2018, In : Proceedings of the National Academy of Sciences of the United States of America. 115, 45, p. E10662-E10671

Research output: Contribution to journalArticle

11 Citations (Scopus)

Lysosomal membrane permeabilization causes secretion of IL-1β in human vascular smooth muscle cells

Ono, H., Ohta, R., Kawasaki, Y., Niwa, A., Takada, H., Nakahata, T., Ohga, S. & Saito, M. K., Oct 1 2018, In : Inflammation Research. 67, 10, p. 879-889 11 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Metabolic and immunological assessment of small-for-gestational-age children during one-year treatment with growth hormone: The clinical impact of apolipoproteins

Kojima-Ishii, K., Toda, N., Okubo, K., Tocan, V., Ohyama, N., Makimura, M., Matsuo, T., Ochiai, M., Ohga, S. & Ihara, K., 2018, In : Endocrine Journal. 65, 4, p. 449-459 11 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
6 Citations (Scopus)

Neurodevelopmental outcomes in infants with birth weight ≤500 g at 3 years of age

Inoue, H., Ochiai, M., Sakai, Y., Yasuoka, K., Tanaka, K., Ichiyama, M., Kurata, H., Fujiyoshi, J., Matsushita, Y., Honjo, S., Nonaka, K., Taguchi, T., Kato, K. & Ohga, S., Dec 2018, In : Pediatrics. 142, 6, e20174286.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Non-reassuring foetal status and neonatal irritability in the Japan Environment and Children’s Study: A cohort study

Morokuma, S., Michikawa, T., Kato, K., Sanefuji, M., Shibata, E., Tsuji, M., Senju, A., Kawamoto, T., Ohga, S. & Kusuhara, K., Dec 1 2018, In : Scientific reports. 8, 1, 15853.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Nontuberculous mycobacteria-associated hemophagocytic lymphohistiocytosis in MonoMAC syndrome

Eguchi, K., Ishimura, M., Sonoda, M., Ono, H., Shiraishi, A., Kanno, S., Koga, Y., Takada, H. & Ohga, S., Jul 2018, In : Pediatric Blood and Cancer. 65, 7, e27017.

Research output: Contribution to journalLetter

2 Citations (Scopus)

Ocular findings in a case of Pierson syndrome with a novel mutation in laminin ß2 gene

Arima, M., Tsukamoto, S., Akiyama, R., Nishiyama, K., Kohno, R. I., Tachibana, T., Hayashida, A., Murayama, M., Hisatomi, T., Nozu, K., Iijima, K., Ohga, S. & Sonoda, K., Oct 1 2018, In : Journal of AAPOS. 22, 5, p. 401-403.e1

Research output: Contribution to journalArticle

Optimal protein intake during pregnancy for reducing the risk of fetal growth restriction: The Japan Environment and Children's Study

Morisaki, N., Nagata, C., Yasuo, S., Morokuma, S., Kato, K., Sanefuji, M., Shibata, E., Tsuji, M., Senju, A., Kawamoto, T., Ohga, S. & Kusuhara, K., Dec 28 2018, In : British Journal of Nutrition. 120, 12, p. 1432-1440 9 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Pediatric ganglioglioma with an H3 K27M mutation arising from the cervical spinal cord

Okuda, T., Hata, N., Suzuki, S. O., Yoshimoto, K., Arimura, K., Amemiya, T., Akagi, Y., Kuga, D., Oba, U., Koga, Y., Ohga, S., Iwaki, T. & Iihara, K., Aug 2018, In : Neuropathology. 38, 4, p. 422-427 6 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Predictive indicators for the development of epilepsy after acute encephalopathy with biphasic seizures and late reduced diffusion

Ichimiya, Y., Kaku, N., Sanefuji, M., Torio, M., Mizuguchi, S., Motomura, Y., Muraoka, M., Lee, S., Baba, H., Sonoda, Y., Ishizaki, Y., Sasazuki, M., Sakai, Y., Maehara, Y. & Ohga, S., Jul 2018, In : Epilepsy Research. 143, p. 70-74 5 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Prolonged PR Interval at Birth Predicting the High Occurrence of Fatal Atrioventricular Block in Hypoplastic Left Heart Syndrome

Morihana, E., Yamamura, K., Sugitani, Y., Kado, H., Takahata, Y., Nakano, T., Nakashima, Y., Fusazaki, N. & Ohga, S., Apr 1 2018, In : Pediatric Cardiology. 39, 4, p. 749-756 8 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Radiotherapy for Langerhans cell histiocytosis with paraplegia: A rare oncologic emergency case report in infancy and literature review

Nakashima, K., Koga, Y., Sakai, Y., Takada, H., Harimaya, K., Ohga, S., Taguchi, T., Oda, Y., Honda, H. & Ohga, S., Nov 2018, In : Brain and Development. 40, 10, p. 952-955 4 p.

Research output: Contribution to journalArticle

Reappraising newborn screening for cobalamin C disorder

Tocan, V., Ohkubo, K., Higashi, K., Toda, N., Kojima-Ishii, K., Nishiyama, K., Ishimura, M., Takada, H., Sakamoto, O., Sasaki, F., Yoshimura, K., Hirose, S. & Ohga, S., Aug 2018, In : Pediatrics and Neonatology. 59, 4, p. 415-417 3 p.

Research output: Contribution to journalArticle

Streptococcus pyogenes-purpura fulminans as an invasive form of group A streptococcal infection

Okuzono, S., Ishimura, M., Kanno, S., Sonoda, M., Kaku, N., Motomura, Y., Nishio, H., Oba, U., Hanada, M., Fukushi, J. I., Urata, M., Kang, D., Takada, H. & Ohga, S., Jul 9 2018, In : Annals of Clinical Microbiology and Antimicrobials. 17, 1, 31.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Survey of anticancer drug exposure to attendant families in pediatric medical centers

Noda, Y., Koga, Y., Ohta, M., Miyazono, M., Wakasugi, Y., Funakoshi, Y., Urabe, Y., Kifune, M., Ueda, T., Oba, U., Nakashima, K., Souzaki, R., Kinoshita, Y., Taguchi, T. & Ohga, S., Jun 2018, In : Japanese Journal of Cancer and Chemotherapy. 45, 6, p. 945-948 4 p.

Research output: Contribution to journalArticle

The Japanese Immune Tolerance Induction (J-ITI) study in haemophilia patients with inhibitor: Outcomes and successful predictors of ITI treatment

Nogami, K., Taki, M., Matsushita, T., Ohga, S., Oka, T., Horikoshi, Y., Amano, K. & Shima, M., Sep 2018, In : Haemophilia. 24, 5, p. e328-e337

Research output: Contribution to journalArticle

1 Citation (Scopus)

Thrombotic microangiopathy in a very young infant with mitral valvuloplasty

Matsunaga, Y., Ishimura, M., Nagata, H., Uike, K., Kinjo, T., Ochiai, M., Yamamura, K., Takada, H., Tanoue, Y., Hayakawa, M., Matsumoto, M., Hara, T. & Ohga, S., Dec 2018, In : Pediatrics and Neonatology. 59, 6, p. 595-599 5 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Vascular pathomechanism in acute encephalopathy with biphasic seizures and late reduced diffusion

Sanefuji, M., Ichimiya, Y., Kaku, N., Sasazuki, M., Yonemoto, K., Torio, M., Mizuguchi, S., Motomura, Y., Muraoka, M., Lee, S., Baba, H., Ohkubo, K., Sonoda, Y., Ishizaki, Y., Sakai, Y. & Ohga, S., Dec 15 2018, In : Journal of the Neurological Sciences. 395, p. 141-146 6 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)
2017

Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations

Hoshino, A., Okada, S., Yoshida, K., Nishida, N., Okuno, Y., Ueno, H., Yamashita, M., Okano, T., Tsumura, M., Nishimura, S., Sakata, S., Kobayashi, M., Nakamura, H., Kamizono, J., Mitsui-Sekinaka, K., Ichimura, T., Ohga, S., Nakazawa, Y., Takagi, M., Imai, K. & 9 others, Shiraishi, Y., Chiba, K., Tanaka, H., Miyano, S., Ogawa, S., Kojima, S., Nonoyama, S., Morio, T. & Kanegane, H., Jul 2017, In : Journal of Allergy and Clinical Immunology. 140, 1, p. 223-231 9 p.

Research output: Contribution to journalArticle

29 Citations (Scopus)

A childhood-onset intestinal toxemia botulism during chemotherapy for relapsed acute leukemia

Ohyama, N., Torio, M., Nakashima, K., Koga, Y., Kanno, S., Nishio, H., Nishiyama, K., Sasazuki, M., Kato, H., Asakura, H., Akamine, S., Sanefuji, M., Ishizaki, Y., Sakai, Y. & Ohga, S., Sep 18 2017, In : Annals of Clinical Microbiology and Antimicrobials. 16, 1, 61.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Calcineurin inhibitors exacerbate coronary arteritis via the MyD88 signalling pathway in a murine model of Kawasaki disease

Murata, K., Motomura, Y., Tanaka, T., Kanno, S., Yano, T., Onimaru, M., Shimoyama, A., Nishio, H., Sakai, Y., Oh-Hora, M., Hara, H., Fukase, K., Takada, H., Masuda, S., Ohga, S., Yamasaki, S. & Hara, T., Oct 2017, In : Clinical and Experimental Immunology. 190, 1, p. 54-67 14 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Clarithromycin plus intravenous immunoglobulin therapy can reduce the relapse rate of Kawasaki disease: A phase 2, open-label, randomized control study

Nanishi, E., Nishio, H., Takada, H., Yamamura, K., Fukazawa, M., Furuno, K., Mizuno, Y., Saigo, K., Kadoya, R., Ohbuchi, N., Onoe, Y., Yamashita, H., Nakayama, H., Hara, T., Ohno, T., Takahashi, Y., Hatae, K., Harada, T., Shimose, T., Kishimoto, J. & 2 others, Ohga, S. & Hara, T., Jul 1 2017, In : Journal of the American Heart Association. 6, 7, e005370.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes

Muramatsu, H., Okuno, Y., Yoshida, K., Shiraishi, Y., Doisaki, S., Narita, A., Sakaguchi, H., Kawashima, N., Wang, X., Xu, Y., Chiba, K., Tanaka, H., Hama, A., Sanada, M., Takahashi, Y., Kanno, H., Yamaguchi, H., Ohga, S., Manabe, A., Harigae, H. & 11 others, Kunishima, S., Ishii, E., Kobayashi, M., Koike, K., Watanabe, K., Ito, E., Takata, M., Yabe, M., Ogawa, S., Miyano, S. & Kojima, S., Jul 1 2017, In : Genetics in Medicine. 19, 7, p. 796-802 7 p.

Research output: Contribution to journalArticle

28 Citations (Scopus)

Diagnostic challenge of Diamond–Blackfan anemia in mothers and children by whole-exome sequencing

Ichimura, T., Yoshida, K., Okuno, Y., Yujiri, T., Nagai, K., Nishi, M., Shiraishi, Y., Ueno, H., Toki, T., Chiba, K., Tanaka, H., Muramatsu, H., Hara, T., Kanno, H., Kojima, S., Miyano, S., Ito, E., Ogawa, S. & Ohga, S., Apr 1 2017, In : International journal of hematology. 105, 4, p. 515-520 6 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)

Distinct Distribution of Immunocytes in a Retropharyngeal Lymphadenopathy Associated with Kawasaki Disease: A Case Study Compared with Tonsillitis

Okada, S., Kobayashi-Fujiwara, Y., Oga, A., Furuta, T., Ikemoto, K., Fujii, H., Sakata, Y., Suzuki, Y., Hasegawa, S., Kusuda, T., Itoh, H., Yamashita, H. & Ohga, S., Jul 1 2017, In : Cardiology (Switzerland). 137, 4, p. 237-243 7 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Distinctive inflammatory profile between acute focal bacterial nephritis and acute pyelonephritis in children

Mizutani, M., Hasegawa, S., Matsushige, T., Ohta, N., Kittaka, S., Hoshide, M., Kusuda, T., Takahashi, K., Ichihara, K. & Ohga, S., Nov 2017, In : Cytokine. 99, p. 24-29 6 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)

Dysregulated gene expressions of MEX3D, FOS and BCL2 in human induced-neuronal (iN) cells from NF1 patients: A pilot study

Sagata, N., Kato, T. A., Kano, S. I., Ohgidani, M., Shimokawa, N., Sato-Kasai, M., Hayakawa, K., Kuwano, N., Wilson, A. M., Ishizuka, K., Kato, S., Nakahara, T., Nakahara-Kido, M., Setoyama, D., Sakai, Y., Ohga, S., Furue, M., Sawa, A. & Kanba, S., Dec 1 2017, In : Scientific reports. 7, 1, 13905.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Early Mortality and Morbidity in Infants with Birth Weight of 500 Grams or Less in Japan

on behalf of the, Neonatal Research Network of Japan (NRNJ) Sapporo City General Hospital, Asahikawa Kosei General Hospital, Engaru-Kosei General Hospital, Kushiro Red Cross Hospital, Obihiro-Kosei General Hospital, Tenshi Hospital, NTT Higashinihon Sapporo Hospital, Nikko Memorial Hospital, Nayoro City General Hospital, Sapporo Medical University, Asahikawa Medical University, Aomori Prefectural Central Hospital, Iwate Medical University, Iwate Prefectural Ofunato Hospital, Iwate Prefectural Kuji Hospital, Iwate Prefectural Ninohe Hospital, Sendai Red Cross Hospital, Akita Red Cross Hospital, Tsuruoka Municipal Shonai Hospital & 184 others, Yamagata University, Yamagata Prefectural Central Hospital, Fukushima Medical University, Takeda General Hospital, Fukushima National Hospital, Tsukuba University, Tsuchiura Kyodo Hospital, Ibaraki Children's Hospital, Dokkyo Medical University, Jichi Medical University, Ashikaga Red Cross Hospital, Gunma Children's Medical Center, Kiryu Kosei General Hospital, Fuji Heavy Industries Health Insurance Society Ota Memorial Hospital, Gunma University, Saitama Children's Medical Center, Nishisaitama-chuo National Hospital, Saitama Medical University Saitama Medical Center, Kawaguchi Municipal Medical Center, Jichi Medical University Saitama Medical Center, Asahi General Hospital, Chiba Kaihin Municipal Hospital, Kameda Medical Center, Tokyo Women's Medical University Yachiyo Medical Center, Juntendo University Urayasu Hospital, Tokyo Metropolitan Children's Medical Center, Tokyo Women's Medical University, Aiiku Hospital, Nihon University Itabashi Hospital, National Center for Global Health and Medicine, Tokyo Medical University, Teikyo University, Showa University, Japan Red Cross Medical Center, National Center for Child Health and Development, Tokyo Metropolitan Otsuka Hospital, Toho University, Tokyo Metropolitan Bokuto Hospital, Tokyo Jikei Medical University, Tokyo Medical and Dental University, Saint Luku's International Hospital, Juntendo University, Sanikukai Hospital, Katsushika Red Cross Hospital, Yokohama Rosai Hospital, Yokohama City University Medical Center, St. Marianna University School of Medicine Hospital, Kanagawa Children's Medical Center, Tokai University, Kitazato University, Odawara Municipal Hospital, Nippon Medical School Musashi Kosugi Hospital, Saiseikai Yokohamashi Tobu Hospital, National Hospital Organization Yokohama Medical Center, Yamanashi Prefectural Central Hospital, Nagano Children's Hospital, Shinshu University, Iida Municipal Hospital, National Hospital Organization Shinshu Ueda Medical Center, Saku General Hospital, Niigata University, Niigata Prefectural Central Hospital, Niigata Municipal Hospital, Nagaoka Red Cross Hospital, Koseiren Takaoka Hospital, Toyama Prefectural Central Hospital, Toyama University, Ishikawa Medical Center for Maternal and Child Health, Kanazawa Medical University, Kanazawa Medical Center, Fukui Prefectural Hospital, Fukui University, Gifu Prefectural General Medical Center, National Hospital Organization Nagara Medical Center, Takayama Red Cross Hospital, Seirei Hamamatsu Hospital, Shizuoka Saiseikai Hospital, Shizuoka Children's Hospital, Hamamatsu Medical University, Numazu Municipal Hospital, Yaizu City Hospital, Fujieda Municipal General Hospital, Nagoya Red Cross Daini Hospital, Nagoya University, Nagoya Red Cross Daiichi Hospital, Toyohashi Municipal Hospital, Nagoya City West Medical Center, Anjo Kosei Hospital, Tosei General Hospital, Komaki Municipal Hospital, TOYOTA Memorial Hospital, Okazaki Municipal Hospital, Konan Kosei Hospital, National Mie Central Medical Center, Ise Red Cross Hospital, Yokkaichi Municipal Hospital, Otsu Red Cross Hospital, Shiga University of Medical Science Hospital, Nagahama Red Cross Hospital, Uji Tokushukai Hospital, The Japan Baptist Hospital, Kyoto University, Kyoto Red Cross Daiichi Hospital, National Maizuru Medical Center, Fukuchiyama City Hospital, Kyoto Prefectural University of Medicine Hospital, Kyoto City Hospital, Mitsubishi Kyoto Hospital, Yodogawa Christian Hospital, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka University, Takatsuki General Hospital, Kansai Medical University, Osaka City General Hospital, Osaka City Sumiyoshi Hospital, Aizenbashi Hospital, Toyonaka Municipal Hospital, National Cerebral and Cardiovascular Center, Kitano Hospital, Saiseikai Suita Hospital, Chifune Hospital, Bellland General Hospital, Rinku General Medical Center, Osaka Red Cross Hospital, Yao Municipal Hospital, Osaka General Medical Center, Osaka City University, Hyogo Prefectural Kobe Children's Hospital, Kobe University, Kakogawa West City Hospital, Saiseikai Hyogoken Hospital, Kobe City Medical Center General Hospital, Hyogo College of Medicine Hospital, Himeji Red Cross Hospital, Toyooka Public Hospital, Hyogo Prefectural Awaji Medical Center, Nara Medical University, Wakayama Medical University, Tottori Prefectural Central Hospital, Tottori University, Shimane Prefectural Central Hospital, Matsue Red Cross Hospital, Kurashiki Central Hospital, Tsuyama Central Hospital, Kawasaki Medical School Hospital, National Hospital Organization Okayama Medical Center, Okayama Red Cross Hospital, Hiroshima City Hiroshima Citizens Hospital, Hiroshima Prefectural Hospital, Hiroshima University, Tsuchiya General Hospital, National Hospital Organization Kure Medical Center, Yamaguchi University, Yamaguchi Grand Medical Center, Tokushima University, Tokushima Municipal Hospital, Kagawa University, National Hospital Organization Kagawa Children's Hospital, Matsuyama Red Cross Hospital, Ehime Prefectural Central Hospital, Kochi Health Science Center, St.Mary's Hospital, National Kyushu Medical Center, Kurume University, Kitakyushu Municipal Medical Center, University of Occupational and Environmental Health, Fukuoka University, Kyushu University, Iizuka Hospital, National Hospital Organization Kokura Medical Center, National Hospital Organization Saga Hospital, National Hospital Organization Nagasaki Medical Center, Kumamoto City Hospital, Kumamoto University, Oita Prefectural Hospital, Almeida Memorial Hospital, Nakatsu Municipal Hospital, Miyazaki University, National Hospital Organization Miyakonojo Medical Center, Kagoshima City Hospital, Imakiire General Hospital, Okinawa Prefectural Nanbu Medical Center & Children's Medical Center, Okinawa Prefectural Chubu Hospital, Naha City Hospital & Okinawa Red Cross Hospital, Nov 2017, In : Journal of Pediatrics. 190, p. 112-117.e3

Research output: Contribution to journalArticle

21 Citations (Scopus)

Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia

Ikeda, F., Yoshida, K., Toki, T., Uechi, T., Ishida, S., Nakajima, Y., Sasahara, Y., Okuno, Y., Kanezaki, R., Terui, K., Kamio, T., Kobayashi, A., Fujita, T., Sato-Otsubo, A., Shiraishi, Y., Tanaka, H., Chiba, K., Muramatsu, H., Kanno, H., Ohga, S. & 6 others, Ohara, A., Kojima, S., Kenmochi, N., Miyano, S., Ogawa, S. & Ito, E., Feb 28 2017, In : Haematologica. 102, 3, p. e93-e96

Research output: Contribution to journalLetter

15 Citations (Scopus)