Karen D. Tsuchiya, MD

Karen D. Tsuchiya, MD


On staff since March 2004

Children's Title: Program Director, Cytogenetics Laboratory; Program Director, Molecular Diagnostics

Academic Title: Associate Professor

Research Center: Center for Clinical and Translational Research


Board Certification(s)

Pathology - Anatomic
Clinical Cytogenetics
Clinical Molecular Genetics

Medical/Professional School

University of Michigan Medical School, Ann Arbor


Pathology - Anatomic, University of Washington School of Medicine, Seattle


Pathology - Clinical, University of Washington School of Medicine, Seattle
Clinical Cytogenetics, Case Western Reserve University School of Medicine, Cleveland

Research Focus Area

Translational Research


  • Delgado F, Tabor HK, Chow PM, Conta JH, Feldman KW, Tsuchiya KD, Beck AE
    Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families.
    25232848 Genetics in medicine : official journal of the American College of Medical Genetics , 2014 Sept. 18
  • Kapur RP, Berry JE, Tsuchiya KD, Opheim KE
    Activation of the chromosome 19q microRNA cluster in sporadic and androgenetic-biparental mosaicism-associated hepatic mesenchymal hamartoma.
    24555441 Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society , 2014 Mar. : 17(2)75-84
  • Mascarello JT, Hirsch B, Kearney HM, Ketterling RP, Olson SB, Quigley DI, Rao KW, Tepperberg JH, Tsuchiya KD, Wiktor AE, Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee
    Section E9 of the American College of Medical Genetics technical standards and guidelines: fluorescence in situ hybridization.
    21738013 Genetics in medicine : official journal of the American College of Medical Genetics , 2011 July : 13(7)667-75
  • Hand M, Gray C, Glew G, Tsuchiya KD
    Mild phenotype in a patient with mosaic del(8p)/inv dup del(8p).
    20830805 American journal of medical genetics. Part A , 2010 Sept. 9
  • Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD
    Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
    20808231 Genetics in medicine : official journal of the American College of Medical Genetics , 2010 Aug. 30
  • Tsuchiya KD, Shaffer LG, Aradhya S, Gastier-Foster JM, Patel A, Rudd MK, Biggerstaff JS, Sanger WG, Schwartz S, Tepperberg JH, Thorland EC, Torchia BA, Brothman AR
    Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories.
    19904209 Genetics in medicine : official journal of the American College of Medical Genetics , 2009 Dec. : 866-73
  • Trobridge P, Knoblaugh S, Washington MK, Munoz NM, Tsuchiya KD, Rojas A, Song X, Ulrich CM, Sasazuki T, Shirasawa S, Grady WM
    TGF-beta receptor inactivation and mutant Kras induce intestinal neoplasms in mice via a beta-catenin-independent pathway.
    19208363 Gastroenterology , 2009 May : 1680-8.e7
  • Tsuchiya KD, Opheim KE, Hannibal MC, Hing AV, Glass IA, Raff ML, Norwood T, Torchia BA
    Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.
    18471320 Molecular Cytogenetics , 2008 Apr, 21 : 7
  • Hatton BA, Villavicencio EH, Tsuchiya KD, Pritchard JI, Ditzler S, Pullar B, Hansen S, Knoblaugh SE, Lee D, Eberhart CG, Hallahan AR, Olson JM
    The Smo/Smo model: hedgehog-induced medulloblastoma with 90% incidence and leptomeningeal spread.
    18339857 Cancer research , 2008 Mar. 15 : 1768-76
  • Loeb KR, Kostner H, Firpo E, Norwood T, D Tsuchiya K, Clurman BE, Roberts JM
    A mouse model for cyclin E-dependent genetic instability and tumorigenesis.
    16023597 Cancer cell , 2005 July : 35-47
  • Filippova GN, Cheng MK, Moore JM, Truong JP, Hu YJ, Nguyen DK, Tsuchiya KD, Disteche CM
    Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early development.
    15669143 Developmental cell , 2005 Jan. : 31-42
  • Tsuchiya KD, Greally JM, Yi Y, Noel KP, Truong JP, Disteche CM
    Comparative sequence and x-inactivation analyses of a domain of escape in human xp11.2 and the conserved segment in mouse.
    15197169 Genome research , 2004 July : 1275-84
  • Kulnane LS, Lehman EJ, Hock BJ, Tsuchiya KD, Lamb BT
    Rapid and efficient detection of transgene homozygosity by FISH of mouse fibroblasts.
    11956767 Mammalian genome : official journal of the International Mammalian Genome Society , 2002 Apr, : 223-6