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Yumi Kasai

  • ASSISTANT PROFESSOR Genetics and Genomic Sciences
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  • B.S., State University of New York at Binghamton

  • University California Los Angeles

  • Ph.D., Princeton University


    Clinical Interests: Clinical molecular genetics, personalized medicine, next-generation sequencing


Genomics Core Facility (GCF)

Genomics Core Facility (GCF) is a CLIA certified laboratory. As a technology hub, we enable Mount Sinai investigators to carry out cutting-edge basic and translational genomics research. In addition, we leverage emerging next generation sequencing and other genomic technologies for clinical diagnosis and resulting applications. We help investigators and clinicians analyze research and clinical samples, identify genetic variants contributing to disease risk and explain pathogenic mechanisms in human disease.

Our capabilities include:

  • Massively parallel sequencing with the Illumina HiSeq 2000 and MiSeq
  • Single molecule sequencing with the Pacific Biosciences RS
  • Next-generation sequencing library preparation from RNA and DNA
  • Sanger sequencing with capillary electrophoresis
  • Genotyping, gene expression profiling and epigenetics using the high-throughput Illumina BeadArray platform
  • Real-time PCR using the Applied Biosystems 7900HT

At the GCF, I am a senior staff member where I have two key roles. As Production Manager (molecular biology of sample (library) preparation and R & D), I oversee the large scale genomics production pipeline for both research and clinical samples. As Assistant Director of Genomics CLIA operations, Mount Sinai Genetic Testing Laboratory (MGTL), I ensure that the Genomics Core Facility is operating under current clinical guidelines according to the New State Department of Health (NYSDOH) and the College of American Pathologists (CAP). In addition I work directly with the directors of both the GCF and MGTL to enhance our diagnostic menu for DNA-based tests for genetic diseases. In particular, I am interested in the new wave of clinical genetic testing using a variety of genomic platforms ranging from genotyping, Sanger sequencing, next-generation sequencing to single-molecule sequencing.


Barginear MF, Jaremko M, Peter I, Yu C, Kasai Y, Kemeny M, Raptis G, Desnick RJ. Increasing tamoxifen dose in breast cancer patients based on CYP2D6 genotypes and endoxifen levels: effect on active metabolite isomers and the antiestrogenic activity score. Clinical pharmacology and therapeutics 2011 Oct; 90(4).

Scott SA, Martis S, Peter I, Kasai Y, Kornreich R, Desnick RJ. Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness. The pharmacogenomics journal 2011 Mar;.

Jaremko M, Kasai Y, Barginear MF, Raptis G, Desnick RJ, Yu C. Tamoxifen metabolite isomer separation and quantification by liquid chromatography-tandem mass spectrometry. Analytical chemistry 2010 Dec; 82(24).

Kasai Y, Cagan R. Drosophila as a tool for personalized medicine: a primer. Personalized medicine 2010 Nov; 7(6).

Goh ES, Li C, Horsburgh S, Kasai Y, Kolomietz E, Morel CF. The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. American journal of medical genetics. Part A 2010 Feb; 152A(2).

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.

Industry Relationships

Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device and biotechnology companies to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their relationships with such companies.

Dr. Kasai did not report having any of the following types of financial relationships with industry during 2015 and/or 2016: consulting, scientific advisory board, industry-sponsored lectures, service on Board of Directors, participation on industry-sponsored committees, equity ownership valued at greater than 5% of a publicly traded company or any value in a privately held company. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.

Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.

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