1. Numabe H. 58th Annual Meeting of the Japanese Teratology Society: Congenital anomalies as variants. Congenit Anom (Kyoto) 58(6): 186-187, 2018

2. Nakayama T*, Kashiwagi Y, Kawashima H. Long-term regulation of local cytokine production following immunization in mice. Microbiol Immunol 62(2): 124-131, 2018

3. Wakai M*, Takahashi R*, Higashigawa S*, Ikeda M*, Yotsumoto J*, Numabe H. Self-perceptions from people with Down syndrome in Japan. J Hum Genet 63(5): 669-672, 2018

4. Nakayama T*, Kumagai T*, Kashiwagi Y, Yoshii H*, Honjo K*, Kubota-Koketsu R*, Okuno Y*, Suga S*. Cytokine production in whole-blood cultures following immunization with an influenza vaccine. Hum Vaccin Immunother, in print

5. Meng K*, Xu W*, Miura T, Suzuki S, Chiyotanda M, Tanaka S, Sugiyama K*, Kawashima H, Hirano T*. The effects of vitamin K1 and vitamin K2 on the proliferation, cytokine production and egulatory T-cell frequency in peripheral blood mononuclear cells of paediatric atopic dermatitis patients. Exp Dermatol. 27(9): 1058-1060, 2018

6. Yamanaka G, Morishita N, Morichi S, Takeshita M, Urabe T, Ishida Y, Takamatsu T, Oana S, Watanabe Y, Go S, Kashiwagi Y, Kawashima H. Serial Analysis of Multiple Serum Cytokine Responses to Adrenocorticotropic Hormone Therapy in Patients with West Syndrome. J Child Neurol　33(8): 528-533, 2018

7. Yamanaka G, Ishida Y, Morichi S, Morishita N, Takeshita M, Urabe T, Takamatsu T, Oana S, Kashiwagi Y, Kawashima H. Spinal Fluid Cytokine Levels and Single-Photon Emission Computed Tomography Findings in Complex Febrile Seizures. J Child Neurol 33(6): 417-421, 2018

8. Morichi S, Urabe T, Morishita N, Takeshita M, Ishida Y, Oana S, Yamanaka G, Kashiwagi Y, Kawashima H. Pathological analysis of children with childhood central nervous system infection based on changes in chemokines and interleukin-17 family cytokines in cerebrospinal fluid. J Clin Lab Anal.32(1): 2018 doi: 10.1002/jcla.22162.

9. Shimura M, Nishimata S, Saito N, Tsutsumi N, Suzuki S, Morishima Y, Kashiwagi Y, Numabe H, Kawashima H. Ferroportin Disease Caused by a Heterozygous Variant p.Cys326Phe in the SLC40A1 Gene and the Efficacy of Therapeutic Phlebotomy in Children. J Pediatr Hematol Oncol. 2018 doi: 10.1097/MPH.0000000000001301. [Epub ahead of print]

10. Lim SC*, Tajika M*, Shimura M, Carey KT*, Stroud DA*, Murayama K*, Ohtake A*, McKenzie M*. Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function. Sci Rep 8(1): 153, 2018

11. Maruyama H*, Maruyama H*, Miyata K*, Mikame M*, Taguchi A*, Guili C*, Shimura M, Murayama K*, Inoue T*, Yamamoto S*, Sugimura K*, Tamita K*, Kawasaki T*, Kajihara J*, Onishi A*, Sugiyama H*, Sakai T*, Murata I*, Oda T*, Toyoda S*, Hanawa K*, Fujimura T*, Ura S*, Matsumura M*, Takano H*, Yamashita S*, Matsukura G*, Tazawa R*, Shiga T*, Ebato M*, Satoh H,* Ishii S*. Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis. Genet Med. 2018 doi: 10.1038/gim.

12. Martin CA*, Sarlos K*, Logan CV*, Thakur RS*, Parry DA*, Bizard AH*, Leitch A*, Cleal L*, Ali NS*, Al-Owain MA*, Allen W*, Altmuller J*, Aza-Carmona M*, Barakat BAY*, Barraza-Garcia J*, Begtrup A*, Bogliolo M*, Cho MT*, Cruz-Rojo J*, Dhahrabi HAM*, Elcioglu NH*; GOSgene, Gorman GS*, Jobling R*, Kesterton *I, Kishita Y*, Kohda M*, Le Quesne Stabej P*, Malallah AJ*, Nurnberg P*, Ohtake A*, Okazaki Y*, Pujol R*, Ramirez MJ*, Revah-Politi A*, Shimura M, Stevens P*, Taylor RW*, Turner L*, Williams H*, Wilson C*, Yigit G*, Zahavich L*, Alkuraya FS*, Surralles J*, Iglesias A*, Murayama K*, Wollnik B*, Dattani M*, Heath KE*, Hickson ID*, Jackson AP*. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. Am J Hum Genet 103(2): 221-231, 2018

13. Nakajima J, Tsutsumi N, Nara S, Ishii H, Suganami Y, Sunohara D, Kawashima H. Correlations of enzyme levels at birth in stressed neonates with short-term outcome. Fetal Pediatr Pathol 37(3): 157-165, 2018

14. Nakajima J, Oana S, Sakaguchi T*, Nakashima M*, Numabe H, Kawashima H, Matsumoto N*, Miyake N*. Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities. J Hum Genet 63(4): 529-532, 2018

15. Agata K, Kawashima H, Kumada A, Kashiwagi Y, Hara Y*. Clinical Usefulness of Magnetic Resonance Imaging in Four Children With Scleroderma. Arch Rheumatol 33(2): 230-235, 2018

16. Nishibukuro M, Tsutsumi N, Chiyotanda M, Hijikata T, Morichi S, Go S, Yamanaka G, Kashiwagi Y, Kawashima H. Poststreptococcal reactive arthritis in Japan. Jounal of Infection and Chemotherapy 24(7): 531-537, 2018

17. Go S, Saito N, Suzuki S, Hatsushika T, Kato K, Kasuga A, Kashiwagi Y, Kawashima H. Atomoxetine-induced hyperadrenergic postural tachycardia syndrome: a case report. Clin Auton Res. 28(2): 247-249, 2018

18. Kashiwagi Y, Agata K, Go S, Nishimata S, Kawashima H. Clinical features of solitary functioning kidney. CEN Case Rep. 7(1): 185-186, 2018

19. Morichi S, Okuma Y*, Urabe T, Mori T, Takeshita M, Morishita N, Ishida Y, Oana S, Yamanaka G, Kawashima H. Sudden unexpected death in epilepsy (SUDEP) in childhood: report of two cases. Journal of Pediatric Epilepsy 7(1): 24-26, 2018

20. Shimura M, Nishimata S, Saito N, Tsutsumi N, Suzuki S, Morishima Y, Kashiwagi Y, Numabe H, Kawashima H. Ferroportin Disease Caused by a Heterozygous Variant p.Cys326Phe in the SLC40A1 Gene and the Efficacy of Therapeutic Phlebotomy in Children. J Pediatr Hematol Oncol. doi: 10. 1097/MPH. 0000000000001301. Aug 2018

21. Shimura M, Go S, Kashiwagi Y, Kawashima H. ICU-acquired weakness in a pediatric patient with bronchial asthma after mechanical ventilation and corticosteroids therapy. J. Tokyo Med. Univ. 76(1); 64-69, 2018

22. Fukushi R*, Tsuboi R*, Maeda T*, Kanda Y*, Sakai N*, Suzuki S, Harada K*. A case of Kindler syndrome in a young Indian female with exon deletion. Int J Dermatol. 2018 doi:10.1111/ijd.14288[Epub ahead of print]

23. Chida R, Shimura M, Nishimata S, Kashiwagi Y, Kawashima H. Efficacy of ketogenic diet for pyruvate dehydrogenase complex deficiency. Pediatr Int. doi: 10. 1111/ped.13700. Nov 2018

1. Kawashima H. Cytokine and chemokine of severe respiratory syncytial virus infection in children . BIT's 9th World Genome Convention-2018 (2018.11.14), Singapole

2. Kawashima H. symposium central Nervous System Infections in Asia: Influenza-associated encephalopathy. 9th Asian Congress of Pediatric Infectious Diseases (ACPID) (2018.11.12),Fukuoka

3. Numabe H, Morishima Y, Inagaki N*, Wakai M*, Kanbara Y *, Takeuchi C *, Kawashima H, Kunikata T*. Duplication of 15q24.1q26.2 and terminal deletion of 15q26.2q26.3 in a female child with severe growth impairment. European Human Genetics Conference (2018.6.16-19) Milan, Italy

4. Numabe H, Morishima Y, Inagaki N*, Shiyanagi S*, Hayashi Y*, Kawashima H. A 1.9 MB interstitial deletions of 10q23.2q23.31 in a boy with juvenile polyposis. American Society of Human Genetics 2017 Annual Meeting (2018.10.16-20) San Diego, USA

5. Yamanaka G, Takahashi R, Oana S , Morichi　S, Takamatsu T, Ishida Y, Morishita N, Takeshita M, Go S, Kashiwagi Y, Kawashima H. Granzyme A as a potential biomarker of pediatric acute encephalopathy and complex febrile seizures. The 20th Annual Meeting of International Symposium on Severe Infantile Epilepsies (2018.9.20-22) Rome, Italy

6. Oana S, Yamanaka G, Ishida Y, Morichi　S, Takamatsu T, Morishita N, Takeshita M, Kawashima H. Analysis of epileptic spasms in case of West syndrome by using 128-channel dense array electroencephalography. The 20th Annual Meeting of International Symposium on Severe Infantile Epilepsies (2018.9.20-22) Rome, Italy

7. Morichi S, Oana S, Takamatsu T, Morishita N, Takeshita M, Ishida Y, Nishimata S, Yamanaka G, Kashiwagi Y, Kawashima H. High mobility group box 1 and angiogenetic growth factor levels in children with central nerve system infections. The 9th Asian Congress of Pediatric Infectious Diseases (2018.11.10-12) Fukuoka, Japan

8. Morichi S, Kimura M, Takamatsu T, Morishita N, Takeshita M, Ishida Y, Oana S, Yamanaka G, Kashiwagi Y, Kawashima H. Cytokine and chemokine responses in clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) by type. The 15th International Child Neurology Congress (2018.11.15-18) Mumbai, India

9. Shimura M, Liu Z*, Fushimi T*, Kuranobu N*, Ichimoto K*, Matsunaga A*, Murayama K*. Identification of biallelic mutations in IARS as the known causative gene for Weak Calf Syndrome, which cause Infantile Mitochondrial Hepatopathy. Society for Inherited Metabolic Disorders, 40th Annual Meeting, (2018.3.11-14) San Diego, USA

10. Shimura M, Fushimi T*, Kuranobu N*, Ichimoto K*, Matsunaga A*, Kishira Y*, Kohda M*, Okazaki Y*, Ohtake A*, Murayama K*. C1QBP deficiency causes cardiomyopathy associated with combined respiratory chain defects. SSIEM annual Symposium, (2018.9.4-7) Athens, Greece

11. Shimura M, Ogawa-Tominaga M*, Fushimi T*, Ichimoto K*, Matsunaga A*, Tsuruoka T*, Kishita Y*, Kohda M*, Okazaki Y*, Ohtake A*, Murayama K*. Identification of novel mitochondrial cardiomyopathy with elevated sister chromatid exchanges: TOP3A deficiency. Aussiemit 2018 (2018.11.29-12.1) Melbourne, Australia

*印は他施設の共著者です。

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