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1. Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F,
   Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL; UCLA Clinical Genomics Center, Grody WW, Vilain
   E, Nelson SF. De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome
   Including Microcephaly and Global Developmental Delay.Am J Hum Genet. 2015 Mar 5;96(3):498-506
2. Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M,
   Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson
   SF. Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders. JAMA. 2014 Oct 18. doi:
   10.1001/jama.2014.14604. [Epub ahead of print]
3. Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S,
   Geschwind DH, Nelson SF.Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA
   Neurol. 2014 Oct 1;71(10):1237-46.
4. Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit
   T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, and Campbell KP,
   ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat
   Genet, 2012. 44(5): p. 575-80
5. Lee H, Graham JM, Jr., Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, and Cohn DH, Exome
   sequencing identifies PDE4D mutations in acrodysostosis. Am J Hum Genet, 2012. 90(4): p. 746-51.
   Lee H and Nelson SF, Rethinking clinical practice: clinical implementation of exome sequencing. Personalized
   Medicine, 2012. 9(8): p. 785-787

Exome sequencing offers diagnostic clarity that can guide care decisions
New diagnostic test helps UCLA doctors pinpoint mutations that cause rarest genetic diseases