Publications

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2014
Sattur A, Deshmukh PK, Abrahim L, Naikmasur VG. "Kabuki Make-up Syndrome - A Case Report with Electromyographic study." J Clin Diagn Res. 2014;8(11):ZD03-6. Abstract
Shinsky SA, Hu M, Vought VE, et al. "A non-active site SET domain surface crucial for the interaction of MLL1 and the RbBP5-ASH2L heterodimer within MLL family core complexes." J. Mol. Biol.. 2014. Abstract
Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I. "A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A." Am. J. Med. Genet. A. 2014. Abstract
Burnell L, Verchere C, Pugash D, Loock C, Robertson S, Lehman A. "Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/- palate." Arch. Dis. Child. Fetal Neonatal Ed.. 2014. Abstract
Micale L, Augello B, Maffeo C, et al. "Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients." Hum. Mutat.. 2014. Abstract
Tunovic S, Barkovich J, Sherr EH, Slavotinek AM. "De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome." Am. J. Med. Genet. A. 2014;164(7):1744-9. Abstract
Van der Meulen J, Speleman F, Van Vlierberghe P. "The H3K27me3 demethylase UTX in normal development and disease." Epigenetics. 2014;9(5). Abstract
Banka S, Lederer D, Benoit V, et al. "Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)." Clin. Genet.. 2014. Abstract
Andersen MS, Menazzi S, Brun P, Cocah C, Merla G, Solari A. "[Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases]." Arch Argent Pediatr. 2014;112(1):26-32. Abstract
Ali M, Hom RA, Blakeslee W, Ikenouye L, Kutateladze TG. "Diverse functions of PHD fingers of the MLL/KMT2 subfamily." Biochim. Biophys. Acta. 2014;1843(2):366-71. Abstract
Subbarayan A, Hussain K. "Hypoglycemia in Kabuki syndrome." Am. J. Med. Genet. A. 2014;164A(2):467-71. 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
Schulz Y, Freese L, Mänz J, et al. "CHARGE and Kabuki syndromes: A phenotypic and molecular link." Hum. Mol. Genet.. 2014. Abstract
Giordano P, Lassandro G, Sangerardi M, Faienza MF, Valente F, Martire B. "Autoimmune haematological disorders in two Italian children with Kabuki syndrome." Ital J Pediatr. 2014;40:10. Abstract
Cappuccio G, Rossi A, Fontana P, et al. "Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene." BMC Med. Genet.. 2014;15:15. Abstract
Keith BP, Robertson DL, Hentges KE. "Locus heterogeneity disease genes encode proteins with high interconnectivity in the human protein interaction network." Front Genet. 2014;5:434. Abstract
Chen Y-H, Sun M-H, Hsia S-H, Lai C-C, Wu W-C. "Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)." BMC Ophthalmol. 2014;14:143. Abstract
2013
Topcu Y, Bayram E, Karaoglu P, Yis U, Kurul SHız. "Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl." J Pediatr Neurosci. 2013;8(3):259-60.
Miyake N, Koshimizu E, Okamoto N, et al. "MLL2 and KDM6A mutations in patients with Kabuki syndrome." Am. J. Med. Genet. A. 2013;161(9):2234-43. Abstract
David-Paloyo FP, Yang X, Lin J-L, Wong F-H, Wu-Chou Y-H, Lo L-J. "Lower Lip Pits: Van der Woude or Kabuki Syndrome?" Cleft Palate Craniofac. J.. 2013. Abstract
Rangasamy S, D'Mello SR, Narayanan V. "Epigenetics, autism spectrum, and neurodevelopmental disorders." Neurotherapeutics. 2013;10(4):742-56. Abstract
Crane B, Alpert PT, Cyrkiel D, Jauregui A. "Kabuki syndrome: a challenge for the primary care provider." J Am Assoc Nurse Pract. 2013;25(10):522-6. Abstract
Guo C, Chen LH, Huang Y, et al. "KMT2D maintains neoplastic cell proliferation and global histone H3 lysine 4 monomethylation." Oncotarget. 2013;4(11):2144-53. Abstract
Courcet J-B, Faivre L, Michot C, et al. "Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome." J. Pediatr.. 2013. Abstract
Ratbi I, Fejjal N, Micale L, et al. "Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation." Mol Syndromol. 2013;4(3):152-6. Abstract