Publications
Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review." Clinics and Practice. 2016;6(3).
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Cochlear Implantation in a Patient with Kabuki Syndrome." The Journal of International Advanced Otology. 2016;12(1):129-131.
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A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome." Proceedings of the National Academy of Sciences. 2016:201611431.
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Kabuki syndrome: clinical and molecular characteristics." Korean J Pediatr. 2015;58(9):317-24. Abstract
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RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome." J. Clin. Invest.. 2015;125(9):3585-99. Abstract
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Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia." Clin. Dysmorphol.. 2015;24(4):135-9. Abstract
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Speech and language in a genotyped cohort of individuals with Kabuki syndrome." Am. J. Med. Genet. A. 2015. Abstract
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Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment." European J Pediatr Surg Rep. 2015;3(1):54-8. Abstract
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The strong association of left-side heart anomalies with Kabuki syndrome." Korean J Pediatr. 2015;58(7):256-62. Abstract
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Kabuki syndrome: clinical and molecular diagnosis in the first year of life." Arch. Dis. Child.. 2015;100(2):158-64. Abstract
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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
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Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome." J Pediatr Neurosci. 2015;10(2):194-5.
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[Kabuki syndrome: Update and review]." Arch Pediatr. 2015. Abstract
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Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations." BMC Med. Genet.. 2015;16(1):26. Abstract
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Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases." PLoS ONE. 2015;10(5):e0126873. Abstract
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Spinal ependymoma in a patient with Kabuki syndrome: a case report." BMC Med. Genet.. 2015;16:80. Abstract
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Acute myocardial infarction in Kabuki syndrome: chance occurrence or a novel risk factor for premature atherosclerosis?" Int. J. Cardiol.. 2014;176(1):e26-8.
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An unusual presentation of Kabuki syndrome: Clinical overlap with CHARGE syndrome." Eur J Med Genet. 2014;57(9):510-2. Abstract
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Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome." Sci Transl Med. 2014;6(256):256ra135. Abstract
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Anesthesia management in a patient with kabuki syndrome." Med Arch. 2014;68(5):359-60. Abstract
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"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.