Karen D. Tsuchiya, MD
Pathology, Differences in Sex Development
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
Delgado F, Tabor HK, Chow PM, Conta JH, Feldman KW, Tsuchiya KD, Beck AESingle-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 KEActivation 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 March : 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 CommitteeSection 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 KDMild 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 KDRecurrent 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 ARVariability 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 WMTGF-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 BAUnexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.
18471320 Molecular Cytogenetics, 2008 April 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 JMThe Smo/Smo model: hedgehog-induced medulloblastoma with 90% incidence and leptomeningeal spread.
18339857 Cancer research, 2008 March 15 : 1768-76
Loeb KR, Kostner H, Firpo E, Norwood T, D Tsuchiya K, Clurman BE, Roberts JMA 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 CMBoundaries 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 CMComparative 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 BTRapid and efficient detection of transgene homozygosity by FISH of mouse fibroblasts.
11956767 Mammalian genome : official journal of the International Mammalian Genome Society, 2002 April : 223-6
- Board Certification(s)
Pathology - Anatomic
Clinical Cytogenetics and Genomics - General
Clinical Molecular Genetics and Genomics - General
- 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