Hane Lee, PhD is an Assistant Professor in the Department of Pathology and Laboratory Medicine in the David Geffen School of Medicine at UCLA. As part of the UCLA Clinical Genomics Center, Dr. Lee specializes in molecular genetics and genomics and performs analysis and interpretation for Clinical Exome Sequencing test. Dr. Lee completed her undergraduate study at the Korea Advanced Institute of Science and Technology (KAIST) and came to UCLA to earn PhD in Human Genetics. Dr. Lee joined the Pathology department in 2011 as an Assistant Researcher and was appointed as an Assistant Professor in 2014.
Exome sequencing offers diagnostic clarity that can guide care decisions
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, VilainE, Nelson SF. De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a SyndromeIncluding Microcephaly and Global Developmental Delay.Am J Hum Genet. 2015 Mar 5;96(3):498-506
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, NelsonSF. Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders. JAMA. 2014 Oct 18. doi:10.1001/jama.2014.14604. [Epub ahead of print]
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. JAMANeurol. 2014 Oct 1;71(10):1237-46.
Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, VoitT, 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. NatGenet, 2012. 44(5): p. 575-80
Lee H, Graham JM, Jr., Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, and Cohn DH, Exomesequencing 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. PersonalizedMedicine, 2012. 9(8): p. 785-787