Izumi Laboratory Publications

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Below is a list of publications from the Izumi Laboratory.

Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallières M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K.. Missense Mutations in NKAP cause a cisorder of transcriptional regulation characterized by marfanoid habitus and cognitive impairment. Am J Hum Genet. 2019 Nov; 105(5):987-995. PMID: 31587868
Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K. Clinical and molecular spectrum of CHOPS syndrome. Am J Med Genet A. 2019 Jul; 179(7):1126-1138. PubMed: 31058441
Ritter AL, McDougall C, Skraban C, Medne L, Bedoukian EC, Asher SB, Balciuniene J, Campbell CD, Baker SW, Denenberg EH, Mazzola S, Fiordaliso SK, Krantz ID, Kaplan P, Ierardi-Curto L, Santani AB, Zackai EH, Izumi K. Variable clinical manifestations of Xia-Gibbs syndrome: Findings of consecutively identified cases at a single children's hospital. Am J Med Genet A. 2018 Sep; 176(9):1890-1896. PubMed: 30152016
Izumi K. Disorders of transcriptional regulation: An emerging category of multiple malformation syndromes. Mol Syndromol. 2016 Oct; 7(5):262-273. PubMed: 27867341
Izumi K, Brett M, Nishi E, Drunat S, Tan ES, Fujiki K, Lebon S, Cham B, Masuda K, Arakawa M, Jacquinet A, Yamazumi Y, Chen ST, Verloes A, Okada Y, Katou Y, Nakamura T, Akiyama T, Gressens P, Foo R, Passemard S, Tan EC, El Ghouzzi V, Shirahige K.. ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects. Am J Hum Genet. 2016 Aug; 99(2):451-9. PubMed: 27476655
Fujiki K, Shirahige K, Kaur M, Deardorff MA, Conlin LK, Krantz ID, Izumi K.. Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR. Genomic Med. 2016 Jan; 4(3):257-61. PubMed: 27247953
Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID. Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. Nat Genet. 2015 Apr; 47(4):338-44. PubMed: 25730767
Izumi K, Zhang Z, Kaur M, Krantz ID. 12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome. Chromosome Res. 2014 Dec; 22(4):453-61. PubMed: 24981202
Kaur M, Izumi K, Wilkens AB, Chatfield KC, Spinner NB, Conlin LK, Zhang Z, Krantz ID.. Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome. PLoS One. 2014 Oct; 9(10):e108853. PubMed: 25329894