Publications

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Journal Article
Schott DA, Blok MJ, Gerver WJM, Devriendt K, Zimmermann LJI, Stumpel CTRM. "Growth pattern in Kabuki syndrome with a KMT2D mutation." American Journal of Medical Genetics Part A. 2016;170(12):3172-3179.
Van der Meulen J, Speleman F, Van Vlierberghe P. "The H3K27me3 demethylase UTX in normal development and disease." Epigenetics. 2014;9(5). Abstract
Cools F, Jaeken J. "Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis." Am. J. Med. Genet.. 1997;71(4):472-4. Abstract
Nydegger A, Van Dyck M, Fisher RA, Jaeken J, Hardikar W. "Hardikar syndrome: long term outcome of a rare genetic disorder." Am. J. Med. Genet. A. 2008;146A(19):2468-72. Abstract
Nobili V, Marcellini M, Devito R, Capolino R, Viola L, Digilio MC. "Hepatic fibrosis in Kabuki syndrome." Am. J. Med. Genet. A. 2004;124A(2):209-12. Abstract
Bjornsson HT, Benjamin JS, Zhang L, et al. "Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome." Sci Transl Med. 2014;6(256):256ra135. Abstract
Banka S, Veeramachaneni R, Reardon W, et al. "How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum." Eur. J. Hum. Genet.. 2012;20(4):381-8. Abstract
Calvo Campoverde K, Gean E, Piquer Gibert M, et al. "Humoral deficiency in three paediatric patients with genetic diseases." Allergol Immunopathol (Madr). 2016;44(3):257-62. Abstract
Kapoor RR, James C, Hussain K. "Hyperinsulinism in developmental syndromes." Endocr Dev. 2009;14:95-113. Abstract
Subbarayan A, Hussain K. "Hypoglycemia in Kabuki syndrome." Am. J. Med. Genet. A. 2014;164A(2):467-71. Abstract
Fryns J-P, Devriendt K. "Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome." Genet. Couns.. 1998;9(1):57-8.
Digilio MC, Baban A, Marino B, Dallapiccola B. "Hypoplastic left heart syndrome in patients with Kabuki syndrome." Pediatr Cardiol. 2010;31(7):1111-3.
Kung GC, Chang PM, Sklansky MS, Randolph LM. "Hypoplastic left heart syndrome in patients with Kabuki syndrome." Pediatr Cardiol. 2010;31(1):138-41. Abstract
Cetinkaya E, Misirlioğlu ED, Vidinlisan S, Baydar Z, Ozhan ZR. "Hypospadias in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome." J. Pediatr. Endocrinol. Metab.. 2001;14(6):803-5. Abstract
Ito N, Ihara K, Tsutsumi Y, Miyake N, Matsumoto N, Hara T. "Hypothalamic pituitary complications in Kabuki syndrome." Pituitary. 2012. Abstract
Loviglio MN, Beck CR, White JJ, et al. "Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics." Genome Medicine. 2016.
Hoffman JD, Ciprero KL, Sullivan KE, et al. "Immune abnormalities are a frequent manifestation of Kabuki syndrome." Am. J. Med. Genet. A. 2005;135(3):278-81. Abstract
Lin J-L, Lee W-I, Huang J-L, et al. "Immunologic Assessment and KMT2D mutation detection in Kabuki Syndrome." Clin. Genet.. 2014. Abstract
Ezgu E, Eminoglu T, Okur I, et al. "An infantile case of Zellweger syndrome presented with Kabuki-like phenotype." Genet. Couns.. 2011;22(2):217-20. Abstract
Zarate YA, Zhan H, Jones JR. "Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation." Mol Syndromol. 2012;3(4):180-4. Abstract
Kobayashi O, Sakuragawa N. "Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 1996;61(1):92-3.
Silengo MC, Lerone M, Seri M, Romeo G. "Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome." Am. J. Med. Genet.. 1996;66(3):368.
Igawa HH, Nishizawa N, Sugihara T, Inuyama Y. "Inner ear abnormalities in Kabuki make-up syndrome: report of three cases." Am. J. Med. Genet.. 2000;92(2):87-9. Abstract
Ladha S. "Insight into the genetic cause underlying Kabuki syndrome." Clin. Genet.. 2010. Abstract
Mervis CB, Becerra AM, Rowe ML, Hersh JH, Morris CA. "Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: a preliminary study." Am. J. Med. Genet. A. 2005;132A(3):248-55. Abstract