Medical College of Wisconsin
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Kala Schilter

Institution: Medical College of Wisconsin - CTSI
Department: CTSI

Publications (18)

  • Analytical validation and implementation of a pan cancer next-generation sequencing panel, CANSeqTMKids for molecular profiling of childhood malignancies. (Schilter KF, Smith BA, Nie Q, Stoll K, Felix JC, Jarzembowski JA, Reddi HV) Front Genet 2023;14:1067457 PMID: 36845394 PMCID: PMC9947346 SCOPUS ID: 2-s2.0-85148574125 02/28/2023       1 Citation
  • Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I syndrome. (Jacquart A, Schilter KF, Udani R, Evans D, Carroll TB, Reddi HV) Clin Genet 2023 Jul;104(1):139-141 PMID: 36840469 SCOPUS ID: 2-s2.0-85149270134 02/26/2023    
  • A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism. (Udani R, Schilter KF, Tyler RC, Smith BA, Wendtandrae JL, Kappes UP, Scharer G, Lehman A, Steinraths M, Reddi HV) J Genet 2023;102 PMID: 36814108 SCOPUS ID: 2-s2.0-85146032465 02/24/2023    
  • Implementation of an Active Screening Program for SARS-CoV2 - Experience at an Academic Medical Center. (Udani R, Schilter KF, Hillmer RE, Petersen RA, Srinivasan S, Marchant JS, Nattinger A, Reddi HV) WMJ 2022 Oct;121(3):235-238 PMID: 36301652 SCOPUS ID: 2-s2.0-85140858901 10/28/2022       1 Citation
  • Diffuse Leptomeningeal Histiocytic Sarcoma: Histologic and Molecular Findings in an Autopsy Case. (Onyenekwu CP, Cunningham AM, Schilter K, Reddi HV, Cochran EJ) J Neuropathol Exp Neurol 2022 Jan 21;81(1):79-81 PMID: 35062029 SCOPUS ID: 2-s2.0-85123746666 01/22/2022    
  • Long-term retinal imaging of a case of suspected congenital rubella infection. (Langlo CS, Trotter A, Reddi HV, Schilter KF, Tyler RC, Udani R, Neitz M, Carroll J, Connor TB) Am J Ophthalmol Case Rep 2022 Mar;25:101241 PMID: 34977425 PMCID: PMC8688893 SCOPUS ID: 2-s2.0-85121217327 01/04/2022       1 Citation
  • Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics. (Siegel DH, Cottrell CE, Streicher JL, Schilter KF, Basel DG, Baselga E, Burrows PE, Ciliberto HM, Vigh-Conrad KA, Eichenfield LF, Holland KE, Hogeling M, Jensen JN, Kelly ME, Kim W, King DM, McCuaig C, Mueller KA, Pope E, Powell J, Price H, Steiner JE, Frieden IJ, Tollefson MM, Drolet BA) J Invest Dermatol 2018 Apr;138(4):957-967 PMID: 29174369 SCOPUS ID: 2-s2.0-85044124722 11/28/2017       35 Citations
  • RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy. (Schilter KF, Steiner JE, Demos W, Maheshwari M, Prokop JW, Worthey E, Drolet BA, Siegel DH) Am J Med Genet A 2017 Sep;173(9):2557-2561 PMID: 28686325 PMCID: PMC5815368 SCOPUS ID: 2-s2.0-85022035456 07/08/2017       9 Citations
  • Variability of Delivery of Timolol for the Treatment of Infantile Hemangiomas. (Yu J, Keuter T, Schilter K, Seefeldt M, Bates B, Mueller K, Drolet BA) Pediatr Dermatol 2017 Jul;34(4):458-460 PMID: 28660677 SCOPUS ID: 2-s2.0-85021931635 07/01/2017       3 Citations
  • 8q21.11 microdeletion in two patients with syndromic peters anomaly. (Happ H, Schilter KF, Weh E, Reis LM, Semina EV) Am J Med Genet A 2016 Sep;170(9):2471-5 PMID: 27378168 PMCID: PMC5119633 SCOPUS ID: 2-s2.0-84982095337 07/06/2016       16 Citations
  • Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. (Reis LM, Tyler RC, Weh E, Hendee KE, Schilter KF, Phillips JA 3rd, Sequeira S, Schinzel A, Semina EV) Clin Genet 2016 Oct;90(4):378-82 PMID: 27272408 PMCID: PMC5295561 SCOPUS ID: 2-s2.0-84988526168 06/09/2016       11 Citations
  • Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype. (Schilter KF, Reis LM, Sorokina EA, Semina EV) Mol Genet Genomic Med 2015 Nov;3(6):490-9 PMID: 26740941 PMCID: PMC4694134 SCOPUS ID: 2-s2.0-84984822087 01/08/2016       8 Citations
  • Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome. (Du M, Yuan T, Schilter KF, Dittmar RL, Mackinnon A, Huang X, Tschannen M, Worthey E, Jacob H, Xia S, Gao J, Tillmans L, Lu Y, Liu P, Thibodeau SN, Wang L) Hum Mol Genet 2015 Jan 01;24(1):154-66 PMID: 25149474 PMCID: PMC4262497 SCOPUS ID: 2-s2.0-84922561546 08/26/2014       46 Citations
  • Whole-genome copy number variation analysis in anophthalmia and microphthalmia. (Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV) Clin Genet 2013 Nov;84(5):473-81 PMID: 23701296 PMCID: PMC3985344 SCOPUS ID: 2-s2.0-84885863395 05/25/2013       37 Citations
  • PITX2 and FOXC1 spectrum of mutations in ocular syndromes. (Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV) Eur J Hum Genet 2012 Dec;20(12):1224-33 PMID: 22569110 PMCID: PMC3499749 SCOPUS ID: 2-s2.0-84869223456 05/10/2012       108 Citations
  • BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. (Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV) Hum Genet 2011 Oct;130(4):495-504 PMID: 21340693 PMCID: PMC3178759 SCOPUS ID: 2-s2.0-80054867601 02/23/2011       90 Citations
  • Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2. (Volkmann BA, Zinkevich NS, Mustonen A, Schilter KF, Bosenko DV, Reis LM, Broeckel U, Link BA, Semina EV) Invest Ophthalmol Vis Sci 2011 Mar;52(3):1450-9 PMID: 20881290 PMCID: PMC3101680 SCOPUS ID: 2-s2.0-79955934874 10/01/2010       38 Citations
  • OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. (Schilter KF, Schneider A, Bardakjian T, Soucy JF, Tyler RC, Reis LM, Semina EV) Clin Genet 2011 Feb;79(2):158-68 PMID: 20486942 PMCID: PMC3017659 SCOPUS ID: 2-s2.0-78650917524 05/22/2010       82 Citations
    • Last update: 02/27/2023