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Kala F. Schilter, Ph.D. - Publications

Affiliations: 
2013 Cell Biology, Neuobiology, Anatomy and Translational Science Medical College of Wisconsin, Milwaukee, WI, United States 
Area:
Genetics
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14 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Jacquart A, Schilter KF, Udani R, Evans D, Carroll TB, Reddi HV. Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I syndrome. Clinical Genetics. PMID 36840469 DOI: 10.1111/cge.14314  0.384
2023 Udani R, Schilter KF, Tyler RC, Smith BA, Wendtandrae JL, Kappes UP, Scharer G, Lehman A, Steinraths M, Reddi HV. A novel variant of associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism. Journal of Genetics. 102. PMID 36814108  0.355
2017 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, et al. "Analyzing the Genetic Spectrum of Vascular Anomalies With Overgrowth Via Cancer Genomics". The Journal of Investigative Dermatology. PMID 29174369 DOI: 10.1016/J.Jid.2017.10.033  0.473
2017 Schilter KF, Steiner JE, Demos W, Maheshwari M, Prokop JW, Worthey E, Drolet BA, Siegel DH. RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy. American Journal of Medical Genetics. Part A. PMID 28686325 DOI: 10.1002/Ajmg.A.38258  0.425
2017 Streicher J, Cottrell C, Schilter K, Siegel D, Drolet B. 483 Rare constitutional variants influence phenotype of somatic cutaneous vascular malformations Journal of Investigative Dermatology. 137: S83. DOI: 10.1016/J.Jid.2017.02.503  0.398
2016 Happ H, Schilter KF, Weh E, Reis LM, Semina EV. 8q21.11 microdeletion in two patients with syndromic peters anomaly. American Journal of Medical Genetics. Part A. PMID 27378168 DOI: 10.1002/Ajmg.A.37840  0.761
2016 Reis LM, Tyler RC, Weh E, Hendee KE, Schilter KF, Phillips Iii JA, Sequeira S, Schinzel A, Semina EV. Whole Exome Sequencing Identifies Multiple Diagnoses in Congenital Glaucoma with Systemic Anomalies. Clinical Genetics. PMID 27272408 DOI: 10.1111/Cge.12816  0.702
2015 Schilter KF, Reis LM, Sorokina EA, Semina EV. Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype. Molecular Genetics & Genomic Medicine. 3: 490-9. PMID 26740941 DOI: 10.1002/Mgg3.159  0.703
2015 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, et al. Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome. Human Molecular Genetics. 24: 154-66. PMID 25149474 DOI: 10.1093/Hmg/Ddu426  0.362
2013 Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV. Whole-genome copy number variation analysis in anophthalmia and microphthalmia. Clinical Genetics. 84: 473-81. PMID 23701296 DOI: 10.1111/Cge.12202  0.759
2012 Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV. PITX2 and FOXC1 spectrum of mutations in ocular syndromes. European Journal of Human Genetics : Ejhg. 20: 1224-33. PMID 22569110 DOI: 10.1038/Ejhg.2012.80  0.39
2011 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. BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Human Genetics. 130: 495-504. PMID 21340693 DOI: 10.1007/S00439-011-0968-Y  0.772
2011 Volkmann BA, Zinkevich NS, Mustonen A, Schilter KF, Bosenko DV, Reis LM, Broeckel U, Link BA, Semina EV. Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2. Investigative Ophthalmology & Visual Science. 52: 1450-9. PMID 20881290 DOI: 10.1167/Iovs.10-6060  0.689
2011 Schilter KF, Schneider A, Bardakjian T, Soucy JF, Tyler RC, Reis LM, Semina EV. OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. Clinical Genetics. 79: 158-68. PMID 20486942 DOI: 10.1111/J.1399-0004.2010.01450.X  0.764
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