Gender	Female
E-mail	yumi.kasai@mssm.edu
Education and Training	B.S., State University of New York at Binghamton
	Ph.D., Princeton University
	Postdoctoral Fellow, University California Los Angeles

Clinical Interests: Pharmacogenetics

Education and Training	B.S., State University of New York at Binghamton
	Ph.D., Princeton University
	Postdoctoral Fellow, University California Los Angeles

Pharmacogenomics

As a member of the Genetic Diagnostics Group I am responsible for developing and marketing a new program for pharmacogenetic testing and other genome-based diagnostics. This includes being involved in pharmacogenomic studies to identify genetic variants that alter drug response and/or cause adverse reactions.  I continuously identify which pharmacogenetic tests would be useful for patient care by physicians in the Mount Sinai Community.  I am also responsible for the development, quality control, state approval, and marketing of these tests.

Collaborating closely with the team members of the Molecular Genetics Laboratory and the Cytogenetics Diagnostics Laboratory, I am involved in the establishment of Chip-based molecular cytogenetic assays for prenatal and post-natal diagnoses of genetic disorders.  In addition, I work directly the co-directors of our Molecular Genetics and Cytogenetics Diagnostics Laboratory, and Dr. Desnick, in a team effort to enhance our diagnostic menu for DNA-based tests for genetic diseases.

Marks JL, Gong Y, Chitale D, Golas B, McLellan MD, Kasai Y, Ding L, Mardis ER, Wilson RK, Solit D, Levine R, Michel K, Thomas RK, Rusch VW, Ladanyi M, Pao W. Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma. Cancer Res 2008 July 15; 68(14): 5524-5528.

Tomasson MH, Xiang Z, Walgren R, Zhao Y, Kasai Y, Miner T, Ries RE, Lubman O, Fremont DH, McLellan MD, Payton JE, Westervelt P, DiPersio JF, Link DC, Walter MJ, Graubert TA, Watson M, Baty J, Heath S, Shannon WD, Nagarajan R, Bloomfield CD, Mardis ER, Wilson RK, Ley TJ. Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia. Blood 2008 May 1; 111(9): 4797-4808.

Xiang Z, Zhao Y, Mitaksov V, Fremont DH, Kasai Y, Molitoris A, Ries RE, Miner TL, McLellan MD, DiPersio JF, Link DC, Payton JE, Graubert TA, Watson M, Shannon W, Heath SE, Nagarajan R, Mardis ER, Wilson RK, Ley TJ, Tomasson MH. Identification of somatic JAK1 mutations in patients with acute myeloid leukemia. Blood 2008 May 1; 111(9): 4809-4812.

Tomasson MH, E, Xiang Z. Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia.;.

Richards A, Atkinson JP, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, Mclellan M, Grand MG, Vanmolkot KR, De Vries B, Wan J, Kane MJ, Mamsa H, Schafer R, Stam AH, Haan J, De Jong PT, Storimans CW, Van Schooneveld MJ, Oostherhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hogkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, van den Maagdenberg AM. C-Terminal Truncations in Human 3'-5' DNA Exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genetics 2007; 39(9): 1068-1070.

Link DC, Ley TJ, Kasai Y, Zhao Y, Miner T, Mclellan MD, Ries RE, Kapur D, Nagarajan R, Dale DC, Bolyard AA, Boxer LA, Welte K, Zeidler C, Donadieu J, Belleanne-Chantelot C, Vardiman JW, Caligiuri MA, Bloomfield CD, Dipersio JF, Tomasson MH, Graubert TA, Westervelt P, Watson M, Shannon W, Baty J, Mardis ER, Wilson RK, Kunter G. Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. Blood 2007; 110(5): 1648-1655.

Hamvas A, Wegner DJ, Carlson CS, Bergmann K, Trusgnich MA, , Kasai Y, An P, Mardis E, Wilson RK, Cole FS, Fulton L. Comprehensive genetic variant discovery in the surfactant protein B gene. Pediatr Res 2007; 62(2): 170-175.

Marks JL, Pao W, Zakowski MF, Lash AE, Kasai Y, Broderick S, Sakaria IS, Pham D, Singh B, Miner TL, Fewell GA, Fulton LL, Mardis ER, Wilson RK, Kris MG, Rusch VW, Varmus H, McLellan MD. Mutational Analysis of EGFR and related signaling pathway genes in lung adenocarcinomas identifies a novel somatic kinase domain mutation in FGFR4. PLoS ONE 2007; 2(5): e426.

Chen K, McLellan M, Mardis E, Kasai Y, Wilson R, Ding L. PolyScan: Automatic Indel and SNP detection in human re-sequencing data. Genome Res 2007; 17(5): 659-666.

Field JJ, Mason PJ, An P, Kasai Y, Wilson DB, Jaeger S, Barnes YJ, King AA, Bessler M, McLellan M. Low frequency of Telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome. J Pediatr Hematol Oncol 2006; 28(7): 450-453.

Ross SA, Song X, , Kasai Y, Orlicky DJ, Burney MW. Efficient adenovirus transduction of 3T3-L1 adipocytes stably expressing coxsackie-adenovirus receptor. Biochem Biophys Res Commun 2003; 302(2): 354-358.

Kasai Y, Crews CT, Stahl S. Specification of the Drosophila CNS midline cell lineage: direct control of single-minded transcription by dorsal/ventral patterning genes. Gene Expr 1998; 7: 171-189.

Wharton KA, Crews CT, Kasai Y, Franks RG. Control of CNS midline transcription by asymmetric E-box elements: similarity to xenobiotic responsive regulation. Development 1994; 120: 3563-3569.