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Patients with SATB2-associated syndrome exhibiting multiple odontomas.
Kikuiri T, Mishima H, Imura H, Suzuki S, Matsuzawa Y, Nakamura T, Fukumoto S, Yoshimura Y, Watanabe S, Kinoshita A, Yamada T, Shindoh M, Sugita Y, Maeda H, Yawaka Y, Mikoya T, Natsume N, Yoshiura KI. Kikuiri T, et al. Among authors: suzuki s. Am J Med Genet A. 2018 Dec;176(12):2614-2622. doi: 10.1002/ajmg.a.40670. Epub 2018 Dec 21. Am J Med Genet A. 2018. PMID: 30575289
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.
Suzuki S, Marazita ML, Cooper ME, Miwa N, Hing A, Jugessur A, Natsume N, Shimozato K, Ohbayashi N, Suzuki Y, Niimi T, Minami K, Yamamoto M, Altannamar TJ, Erkhembaatar T, Furukawa H, Daack-Hirsch S, L'heureux J, Brandon CA, Weinberg SM, Neiswanger K, Deleyiannis FW, de Salamanca JE, Vieira AR, Lidral AC, Martin JF, Murray JC. Suzuki S, et al. Among authors: suzuki y. Am J Hum Genet. 2009 Mar;84(3):406-11. doi: 10.1016/j.ajhg.2009.02.002. Epub 2009 Feb 26. Am J Hum Genet. 2009. PMID: 19249007 Free PMC article.
Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).
Butali A, Suzuki S, Cooper ME, Mansilla AM, Cuenco K, Leslie EJ, Suzuki Y, Niimi T, Yamamoto M, Ayanga G, Erkhembaatar T, Furukawa H, Fujiwawa K, Imura H, Petrin AL, Natsume N, Beaty TH, Marazita ML, Murray JC. Butali A, et al. Among authors: suzuki y, suzuki s. Am J Med Genet A. 2013 May;161A(5):965-72. doi: 10.1002/ajmg.a.35749. Epub 2013 Mar 5. Am J Med Genet A. 2013. PMID: 23463464 Free PMC article.
SPECC1L regulates palate development downstream of IRF6.
Hall EG, Wenger LW, Wilson NR, Undurty-Akella SS, Standley J, Augustine-Akpan EA, Kousa YA, Acevedo DS, Goering JP, Pitstick L, Natsume N, Paroya SM, Busch TD, Ito M, Mori A, Imura H, Schultz-Rogers LE, Klee EW, Babovic-Vuksanovic D, Kroc SA, Adeyemo WL, Eshete MA, Bjork BC, Suzuki S, Murray JC, Schutte BC, Butali A, Saadi I. Hall EG, et al. Among authors: suzuki s. Hum Mol Genet. 2020 Mar 27;29(5):845-858. doi: 10.1093/hmg/ddaa002. Hum Mol Genet. 2020. PMID: 31943082 Free PMC article.
Association between IRF6, TP63, GREM1 Gene Polymorphisms and Non-Syndromic Orofacial Cleft Phenotypes in Vietnamese Population: A Case-Control and Family-Based Study.
Pham LNG, Niimi T, Suzuki S, Nguyen MD, Nguyen LCH, Nguyen TD, Hoang KA, Nguyen DM, Sakuma C, Hayakawa T, Hiyori M, Natsume N, Furukawa H, Imura H, Akashi J, Ohta T, Natsume N. Pham LNG, et al. Among authors: suzuki s. Genes (Basel). 2023 Oct 25;14(11):1995. doi: 10.3390/genes14111995. Genes (Basel). 2023. PMID: 38002937 Free PMC article.
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.
Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, Suzuki S, Natsume N, Ono M, Hai HD, Viet le T, Loddo S, Valente EM, Bernardini L, Ghonge N, Ferguson PJ, Bassuk AG. Darbro BW, et al. Among authors: suzuki s. Hum Mutat. 2013 Aug;34(8):1075-9. doi: 10.1002/humu.22351. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23674478 Free PMC article.
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