人類遺伝学研究分野
論文
A 欧文
A-a
1. Nishitani S, Ikematsu K, Takamura T, Honda S, Yoshiura KI, Shinohara K. Genetic variants in oxytocin receptor andarginine-vasopressin receptor 1A are associated with the neural correlates of maternal and paternal affection towards theirchild. Horm Behav. 87: 47-56, 2017. (IF: 3.378)＊◇
2. Dateki S, Watanabe S, Kinoshita F, Yoshiura KI, Moriuchi H. Identification of 11p14.1-p15.3 deletion probably associated withshort stature, relative macrocephaly, and delayed closure of the fontanelles. Am J Med Genet A 173(1): 217-220, 2017. (IF: 2.259)＊◇
3. Nikitski AV, Rogounovitch TI, Bychkov A, Takahashi M, Yoshiura KI, Mitsutake N, Kawaguchi T, Matsuse M, Drozd VM,Demidchik Y, Nishihara E, Hirokawa M, Miyauchi A, Rubanovich AV, Matsuda F, Yamashita S, Saenko VA. Genotype analyses
in the Japanese and Belarusian populations reveal independent effects of rs965513 and rs1867277 but do not support the role ofFOXE1 polyalanine tract length in conferring risk for papillary thyroid carcinoma. Thyroid 27(2): 224-235, 2017. (IF: 5.515)＊◇4. Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A,Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A,Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro
N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti
LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino
M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB,Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis
EE, FitzPatrick DR, Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia
and Bosma arhinia microphthalmia syndrome. Nat Genet 49(2): 238-248, 2017. (IF: 27.959) ＊5. Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura K-i, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller
J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S,Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P,Ragge N, Lévy N, Tunçbilek G, Teo ASM, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, HillmerAM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. De novomutations in SMCHD1 abrogate nasal development. Nat Genet 49(2): 249-255, 2017. (IF: 27.959) ＊6. Ishikawa T, Ohno S, Murakami T, Yoshida K, Mishima H, Fukuoka T, Kimoto H, Sakamoto R, Ohkusa T, Aiba T, Nogami A,Sumitomo N, Shimizu W, Yoshiura KI, Horigome H, Horie M, Makita N. Sick sinus syndrome with HCN4 mutations showsearly onset and frequent association with atrial fibrillation and left ventricular noncompaction. Heart Rhythm 14(5): 717-724,
2017. (IF: 4.825) ＊7. Iwanaga A, Okubo Y, Yozaki M, Koike Y, Kuwatsuka Y, Tomimura S, Yamamoto Y, Tamura H, Ikeda S, Maemura K, Tsuiki E,Kitaoka T, Endo Y, Mishima H, Yoshiura KI, Ogi T, Tanizaki H, Wataya-Kaneda M, Hattori T, Utani A. Analysis of clinicalsymptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum. J Dermatol 44(6): 644-650, 2017. (IF:2.094) ＊8. Morimoto Y, Ono S, Imamura A, Okazaki Y, Kinoshita A, Mishima H, Nakane H, Ozawa H, Yoshiura KI, Kurotaki N. Deep
sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatricdisease. Hum Genome Var 4: 17032, 2017. ◇9. Dateki S, Nakatomi A, Watanabe S, Shimizu H, Inoue Y, Baba H, Yoshiura KI, Moriuchi H. Identification of a novelheterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation. JHum Genet 62(7): 717-721, 2017. (IF: 2.471) ＊◇10. Seki A, Ishikawa T, Daumy X, Mishima H, Barc J, Sasaki R, Nishii K, Saito K, Urano M, Ohno S, Otsuki S, Kimoto H, BaruteauAE, Thollet A, Fouchard S, Bonnaud S, Parent P, Shibata Y, Perrin JP, Le Marec H, Hagiwara N, Mercier S, Horie M, Probst V,Yoshiura KI, Redon R, Schott JJ, Makita N. Progressive atrial conduction defects associated with bone malformation caused by aconnexin-45 mutation. J Am Coll Cardiol 70(3): 358-370, 2017. (IF: 19.896) ＊11. Smith AL, Kousa YA, Kinoshita A, Fodor K, Yang B, Schutte BC. Generation and characterization of a conditional allele ofInterferon Regulatory Factor 6. Genesis 55(7): e23038, 2017. (IF: 2.143) ＊12. Miura K, Kurabayashi T, Satoh C, Sasaki K, Ishiguro T, Yoshiura KI, Masuzaki H. Fetiform teratoma was a parthenogenetic
tumor arising from a mature ovum. J Hum Genet 62(9): 803-808, 2017. (IF: 2.471) ＊◇13. Asano T, Furukawa H, Sato S, Yashiro M, Kobayashi H, Watanabe H, Suzuki E, Ito T, Ubara Y, Kobayashi D, Iwanaga N, Izumi
Y, Fujikawa K, Yamasaki S, Nakamura T, Koga T, Shimizu T, Umeda M, Nonaka F, Yasunami M, Ueki Y, Eguchi K, Tsuchiya
N, Tohma S, Yoshiura KI, Ohira H, Kawakami A, Migita K. Effects of HLA-DRB1 alleles on susceptibility and clinicalmanifestations in Japanese patients with adult onset Still's disease. Arthritis Res Ther 19(1): 199, 2017. (IF: 4.121) ＊1

14. Kitajima M, Miura K, Inoue T, Murakami Y, Kitajima Y, Murakami N, Taniguchi K, Yoshiura KI, Masuzaki H. Twoconsecutive successful live birth in woman with 17α hydroxylase deficiency by frozen-thaw embryo transfer under hormone
replacement endometrium preparation. Gynecol Endocrinol 34(5):381-384, 2017. (IF: 1.585) ＊◇15. Oshima Y, Yamamoto T, Ishikawa T, Mishima H, Matsusue A, Umehara T, Murase T, Abe Y, Kubo SI, Yoshiura KI, Makita N,Ikematsu K. Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable theprevention of sudden infant death. J Hum Genet 62(11): 989-995, 2017. (IF: 2.471) ＊◇研究業績集計表

教 室 等 名 ： 505 ゲ ノ ム 機 能 解 析 部 門 人 類 遺 伝 学 研 究 分 野 （ 原 研 遺 伝 ）

論文数一覧
2017

A-aA-bA-cA-dA-e

合計

SCI

B-aB-bB-cB-dB-e

合計

総計15000015

1400000015

合計

総計

1822

学会発表数一覧
A-bA-a2017

合計

ｼﾝﾎﾟｼﾞｳﾑ

学会

0404B-bB-a

ｼﾝﾎﾟｼﾞｳﾑ

学会0171

論文総数に係る教員生産係数一覧

2017

欧文論文総数
論文総数

教員生産係数（欧文論文）

SCI掲載論文数
欧文論文総数

教員生産係数（SCI掲載論文）

1

50.933

4.667

Impact factor 値一覧
2017

Impact factor

教員当たり Impact factor

論文当たり Impact factor

109.147

36.3827.7962