^#共1作者，*通讯作者

1. Liu W, Zhu J, Ren K, Xiao D, Qiang R, Rabouhi N, Ikegawa S, Campeau PM, Long Guo*. Congenital Bone Disorders Associated with ERI1-Mediated RNA Metabolism Dysfunction: Spondylo-Epi-Metaphyseal Dysplasia Guo-Campeau Type and Beyond. Current Osteoporosis Reports. 2025, 23, 9. Doi: 10.1007/s11914-025-00903-8

2. Ren K^#, Pirmarzdashti N^#*, Pakdel F^#, Zhu J, Liu W, Wang L, Sadrhosseini M, Abassi F, Xiong Y, Han J, Jiao L, Nishimura G, Yamada T, Qiang R , Guo L*. A novel missense pathogenic variants of TMEM53 in an Iranian family with craniotubular dysplasia, Ikegawa type. J Hum Genet. 2025. Epub ahead of print. Doi: 10.1038/s10038-025-01319-z.

3. Wang Z^#, Kometani M, Zeitlin L, Wilnai Y, Kinoshita A, Yoshiura KI, Ninomiya H, Imamura T, Guo L, Xue J, Yan L, Ohashi H, Pretemer Y, Kawai S, Shiina M, Ogata K, Cohn DH, Matsumoto N, Nishimura G, Toguchida J, Miyake N, Ikegawa S*. Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II. J Hum Genet. 2024 69, 599–605.

4. Ogawa T^*#, Xue J^#, Guo L, Inoue-Arai MS, Vendramini-Pittoli S, Zechi-Ceide RM, Candido-Souza RM, Tonello C, Brand?o MM, Ozawa TO, Peixoto AP, Ruiz DMCF, Nakashima T, Ikegawa S, Moriyama K, Kokitsu-Nakata NM. Identification of a de novo PUF60 variant associated with craniofacial microsomia. Am J Med Genet A. 2024 Apr 22:e63631.

5. Wang L^#, Mizumoto S^#, Zhang R, Zhang Y, Liu Y, Cheng W, Li X, Dan M, Zhang C, Gao X, Wang J, Han J, Jiao L, Wang Y, Jin Q, Yang L, Li C, Li S, Zhu J, Jiang H, Nishimura G, Yamada T, Yamada S, Cai N, Qiang R*, Guo L*. Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review. J Hum Genet. 2024 Jul;69(7):321-327.

6. Guo L*^#, Salian S^#, Xue JY, Rath N, Rousseau J, Kim H, Ehresmann S, Moosa S, Nakagawa N, Kuroda H, Clayton-Smith J, Wang J, Wang Z, Banka S, Jackson A, Zhang YM, Wei ZJ, Hüning I, Brunet T, Ohashi H, Thomas MF, Bupp C, Miyake N, Matsumoto N, Mendoza-Londono R, Costain G, Hahn G, Di Donato N, Yigit G, Yamada T, Nishimura G, Ansel KM, Wollnik B, Hrabě de Angelis M, Mégarbané A, Rosenfeld JA, Heissmeyer V, Ikegawa S, Campeau PM*. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans. Am J Hum Genet. 2023 Jul 6;110(7):1068-1085.

7. Nakajima M, Koido M, Guo L, Terao C*, Ikegawa S*. A novel CCDC91 isoform associated with ossification of the posterior longitudinal ligament of the spine works as a non-coding RNA to regulate osteogenic genes. Am J Hum Genet. 2023 Apr 6;110(4):638-647.

8. Guo L*, Qiang R, Zhang Y, Simsek-Kiper PO*. Editorial: Advancing our understanding of the genetic and functional basis of skeletal dysplasia. Front Genet. 2023 Jan 27;14:1139228.

9. Xue JY, Ikegawa S, Guo L*. SLC4A2, another gene involved in acid-base balancing machinery of osteoclasts, causes osteopetrosis. Bone. 2023 Feb;167:116603.

10. Yonezawa Y, Guo L*, Kakinuma H, Otomo N, Yoshino S, Takeda K, Nakajima M, Shiraki T, Ogura Y, Takahashi Y, Koike Y, Minami S, Uno K, Kawakami N, Ito M, Yonezawa I, Watanabe K, Kaito T, Yanagida H, Taneichi H, Harimaya K, Taniguchi Y, Shigematsu H, Iida T, Demura S, Sugawara R, Fujita N, Yagi M, Okada E, Hosogane N, Kono K, Chiba K, Kotani T, Sakuma T, Akazawa T, Suzuki T, Nishida K, Kakutani K, Tsuji T, Sudo H, Iwata A, Sato T, Inami S, Nakamura M, Matsumoto M, Terao C, Watanabe K, Okamoto H, Ikegawa S*. Identification of a Functional Susceptibility Variant for Adolescent Idiopathic Scoliosis that Upregulates Early Growth Response 1 (EGR1)-Mediated UNCX Expression. J Bone Miner Res. 2023 Jan;38(1):144-153.

11. KIrkgoz T, Ozkan B, Hazan F, Acar S, Nalbantoglu O, Ozkaya B, Kulali MA, Gürsoy S, Ikegawa S, Guo L*. A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis. Front Genet. 2022 Jun 24;13:938814.

12. Itai T^#, Wang Z^#, Nishimura G, Ohashi H, Guo L, Wakano Y, Sugiura T, Hayakawa H, Okada M, Saisu T, Kitta A, Doi H, Kurosawa K, Hotta Y, Hosono K, Sato M, Shimizu K, Takikawa K, Watanabe S, Ikeda N, Suzuki M, Fujita A, Uchiyama Y, Tsuchida N, Miyatake S, Miyake N, Matsumoto N*, Ikegawa S*. De novo heterozygous variants in KIF5B cause kyphomelic dysplasia. Clin Genet. 2022 Jul;102(1):3-11.

13. Xue JY, Grigelioniene G, Wang Z, Nishimura G, Iida A, Matsumoto N, Tham E, Miyake N, Ikegawa S*, Guo L*. SLC4A2 Deficiency Causes a New Type of Osteopetrosis. J Bone Miner Res. 2022 Feb;37(2):226-235.

14. Guo L*, Ikegawa S. From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R. J Hum Genet. 2021 Dec;66(12):1139-1144.

15. Guo L*^#, Iida A^#, Bhavani GS, Gowrishankar K, Wang Z, Xue JY, Wang J, Miyake N, Matsumoto N, Hasegawa T, Iizuka Y, Matsuda M, Nakashima T, Takechi M, Iseki S, Yambe S, Nishimura G, Koseki H, Shukunami C, Girisha KM*, Ikegawa S*. Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling. Nat Commun. 2021 Apr 6;12(1):2046.

16. Xue JY, Simsek-Kiper PO, Utine GE, Yan L, Wang Z, Taskiran EZ, Karaosmanoglu B, Imren G, Gocmen R, Nishimura G, Matsumoto N, Miyake N, Ikegawa S*, Guo L*. Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis. J Hum Genet. 2021 Jun;66(6):607-611.

17. Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N*. Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. Hum Mutat. 2021 Jan;42(1):50-65.

18. Xue JY, Wang Z, Smithson SF, Burren CP, Matsumoto N, Nishimura G, Ikegawa S*, Guo L*. The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins. J Hum Genet. 2021 Apr;66(4):371-377.

19. Xue JY, Ikegawa S*, Guo L*. Genetic disorders associated with the RANKL/OPG/RANK pathway. J Bone Miner Metab. 2021 Jan;39(1):45-53.

20. Kodama K, Takahashi H, Oiji N, Nakano K, Okamura T, Niimi K, Takahashi E, Guo L, Ikegawa S, Furuichi T*. CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage. FEBS Open Bio. 2020 Jun;10(6):1096-1103.

21. Matsuda M, Yamanaka Y, Uemura M, Osawa M, Saito MK, Nagahashi A, Nishio M, Guo L, Ikegawa S, Sakurai S, Kihara S, Maurissen TL, Nakamura M, Matsumoto T, Yoshitomi H, Ikeya M, Kawakami N, Yamamoto T, Woltjen K, Ebisuya M*, Toguchida J, Alev C*. Recapitulating the human segmentation clock with pluripotent stem cells. Nature. 2020 Apr;580(7801):124-129.

22. Helman G, Lajoie BR, Crawford J, Takanohashi A, Walkiewicz M, Dolzhenko E, Gross AM, Gainullin VG, Bent SJ, Jenkinson EM, Ferdinandusse S, Waterham HR, Dorboz I, Bertini E, Miyake N, Wolf NI, Abbink TEM, Kirwin SM, Tan CM, Hobson GM, Guo L, Ikegawa S, Pizzino A, Schmidt JL, Bernard G, Schiffmann R, van der Knaap MS, Simons C, Taft RJ, Vanderver A*. Genome sequencing in persistently unsolved white matter disorders. Ann Clin Transl Neurol. 2020 Jan;7(1):144-152.

23. Guo L, Ikegawa S, Shukunami, C*. "Emergence of zebrafish as a model system for understanding human scoliosis". Chapter in Springer Special Book “Zebrafish, Medaka, and Other Small Fishes - New Model Animals in Biology, Medicine, and Beyond". ISBN 978-981-13-1878-8. Springer Nature Singapore. 2019. pp 217-234.

24. Furuichi T*, Tsukamoto M, Saito M, Sato Y, Oiji N, Yagami K, Fukumura R, Gondo Y, Guo L, Ikegawa S, Yamamori Y, Tomii K. Crim1C140S mutant mice reveal the importance of cysteine 140 in the internal region 1 of CRIM1 for its physiological functions. Mamm Genome. 2019 Dec;30(11-12):329-338.

25. Xue JY, Wang Z, Shinagawa S, Ohashi H, Otomo N, Elcioglu NH, Nakashima T, Nishimura G, Ikegawa S, Guo L*. TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum. J Bone Miner Res. 2019 Oct;34(10):1873-1879.

26. Otomo N, Takeda K, Kawai S, Kou I, Guo L, Osawa M, Alev C, Kawakami N, Miyake N, Matsumoto N, Yasuhiko Y, Kotani T, Suzuki T, Uno K, Sudo H, Inami S, Taneichi H, Shigematsu H, Watanabe K, Yonezawa I, Sugawara R, Taniguchi Y, Minami S, Kaneko K, Nakamura M, Matsumoto M, Toguchida J, Watanabe K, Ikegawa S*. Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis. J Med Genet. 2019 Sep;56(9):622-628.

27. Guo L^#, Bertola DR^#, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S*. Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. Am J Hum Genet. 2019 May 2;104(5):925-935.

28. Otomo N, Mizumoto S, Lu HF, Takeda K, Campos-Xavier B, Mittaz-Crettol L, Guo L, Takikawa K, Nakamura M, Yamada S, Matsumoto M, Watanabe K*, Ikegawa S*. Identification of novel LFNG mutations in spondylocostal dysostosis. J Hum Genet. 2019 Mar;64(3):261-264.

29. Guo L^#, Elcioglu NH^#, Karalar OK, Topkar MO, Wang Z, Sakamoto Y, Matsumoto N, Miyake N, Nishimura G, Ikegawa S*. Dysosteosclerosis is also caused by TNFRSF11A mutation. J Hum Genet. 2018 Jun;63(6):769-774.

30. Guo L^#, Elcioglu NH^#, Wang Z, Demirkol YK, Isguven P, Matsumoto N, Nishimura G, Miyake N, Ikegawa S*. Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum. Hum Genome Var. 2017 Oct 5;4:17040.

31. Guo L^#, Elcioglu NH^#, Mizumoto S, Wang Z, Noyan B, Albayrak HM, Yamada S, Matsumoto N, Miyake N, Nishimura G, Ikegawa S*. Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. J Hum Genet. 2017 Aug;62(8):797-801.

32. Wang Z^#, Horemuzova E^#, Iida A, Guo L, Liu Y, Matsumoto N, Nishimura G, Nordgren A, Miyake N, Tham E, Grigelioniene G, Ikegawa S*. Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. J Hum Genet. 2017 Apr;62(4):503-506.

33. Guo L^#, Elcioglu NH^#, Iida A, Demirkol YK, Aras S, Matsumoto N, Nishimura G, Miyake N, Ikegawa S*. Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2. J Hum Genet. 2017 Mar;62(3):447-451.

34. Guo L, Girisha KM, Iida A, Hebbar M, Shukla A, Shah H, Nishimura G, Matsumoto N, Nismath S, Miyake N, Ikegawa S*. Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia. J Hum Genet. 2017 Mar;62(3):437-441.

35. Guo L, Yamashita H, Kou I, Takimoto A, Meguro-Horike M, Horike S, Sakuma T, Miura S, Adachi T, Yamamoto T, Ikegawa S, Hiraki Y, Shukunami C*. Functional Investigation of a Non-coding Variant Associated with Adolescent Idiopathic Scoliosis in Zebrafish: Elevated Expression of the Ladybird Homeobox Gene Causes Body Axis Deformation. PLoS Genet. 2016 Jan 28;12(1):e1005802.

36. Kou I, Takahashi Y, Johnson TA, Takahashi A, Guo L, Dai J, Qiu X, Sharma S, Takimoto A, Ogura Y, Jiang H, Yan H, Kono K, Kawakami N, Uno K, Ito M, Minami S, Yanagida H, Taneichi H, Hosono N, Tsuji T, Suzuki T, Sudo H, Kotani T, Yonezawa I, Londono D, Gordon D, Herring JA, Watanabe K, Chiba K, Kamatani N, Jiang Q, Hiraki Y, Kubo M, Toyama Y, Tsunoda T, Wise CA, Qiu Y, Shukunami C, Matsumoto M*, Ikegawa S*. Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis. Nat Genet. 2013 Jun;45(6):676-9.