Publications

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2016
Gole H, Chuk R, Coman D. "Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review." Clinics and Practice. 2016;6(3).
Vesseur A, Cillessen E, Mylanus E. "Cochlear Implantation in a Patient with Kabuki Syndrome." The Journal of International Advanced Otology. 2016;12(1):129-131.
Benjamin JS, Pilarowski GO, Carosso GA, et al. "A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome." Proceedings of the National Academy of Sciences. 2016:201611431.
2015
Cheon C-K, Ko JM. "Kabuki syndrome: clinical and molecular characteristics." Korean J Pediatr. 2015;58(9):317-24. Abstract
Bögershausen N, Tsai I-C, Pohl E, et al. "RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome." J. Clin. Invest.. 2015;125(9):3585-99. Abstract
McVeigh TP, Banka S, Reardon W. "Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia." Clin. Dysmorphol.. 2015;24(4):135-9. Abstract
Gohda Y, Oka S, Matsunaga T, et al. "Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia." Pediatr Int. 2015. Abstract
Van Laarhoven PM, Neitzel LR, Quintana AM, et al. "Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart, and brain development." Hum. Mol. Genet.. 2015. Abstract
Morgan AT, Mei C, Da Costa A, et al. "Speech and language in a genotyped cohort of individuals with Kabuki syndrome." Am. J. Med. Genet. A. 2015. Abstract
Giudici V, Kanani M, Muthialu N, et al. "Duplicated left pulmonary artery: an unknown disease? Three case reports and review of the literature." Cardiol Young. 2015:1-7. Abstract
Miyake N, Tsurusaki Y, Koshimizu E, et al. "Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations." Clin. Genet.. 2015. Abstract
Siminas S, Baillie CT, Turnock R. "Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment." European J Pediatr Surg Rep. 2015;3(1):54-8. Abstract
Yoon JK, Ahn KJ, Kwon BS, et al. "The strong association of left-side heart anomalies with Kabuki syndrome." Korean J Pediatr. 2015;58(7):256-62. Abstract
Dentici ML, Di Pede A, Lepri FR, et al. "Kabuki syndrome: clinical and molecular diagnosis in the first year of life." Arch. Dis. Child.. 2015;100(2):158-64. Abstract
Parisi L, Di Filippo T, Roccella M. "Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases." Minerva Pediatr.. 2015;67(4):369-75. Abstract
Kapoor S. "Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome." J Pediatr Neurosci. 2015;10(2):194-5.
Arnaud M, Barat-Houari M, Gatinois V, et al. "[Kabuki syndrome: Update and review]." Arch Pediatr. 2015. Abstract
Liu S, Hong X, Shen C, et al. "Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations." BMC Med. Genet.. 2015;16(1):26. Abstract
Moosmann J, Uebe S, Dittrich S, Rüffer A, Ekici AB, Toka O. "Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases." PLoS ONE. 2015;10(5):e0126873. Abstract
Roma D, Palma P, Capolino R, et al. "Spinal ependymoma in a patient with Kabuki syndrome: a case report." BMC Med. Genet.. 2015;16:80. Abstract
2014
Weir RAP, Alston AF, Ali MA-D. "Acute myocardial infarction in Kabuki syndrome: chance occurrence or a novel risk factor for premature atherosclerosis?" Int. J. Cardiol.. 2014;176(1):e26-8.
Verhagen JMA, Oostdijk W, Terwisscha van Scheltinga CEJ, Schalij-Delfos NE, van Bever Y. "An unusual presentation of Kabuki syndrome: Clinical overlap with CHARGE syndrome." Eur J Med Genet. 2014;57(9):510-2. 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
Atalay YO, Kaya C, Ustun YB, Sahinoglu AH. "Anesthesia management in a patient with kabuki syndrome." Med Arch. 2014;68(5):359-60. Abstract
"Opitz award winners focus on hemihyperplasia, Kabuki syndrome: Winning papers detail array testing for hemihyperplasia, genotype-phenotype differences in KS." Am. J. Med. Genet. A. 2014;164(10):viii-ix.