Reduction in ACE2 expression in peripheral blood mononuclear cells during COVID-19 - implications for post COVID-19 conditions
Ahmed, Gulrayz, Abdelgadir, Yasir, Abdelghani, Amro, Simpson, Pippa, Barbeau, Jody, Basel, Donald, Barrios, Christy S, Smith, Brandon A, Schilter, Kala F, Udani, Rupa, Reddi, Honey V, Willoughby, Rodney E
Published in BMC infectious diseases (03.07.2024)
Published in BMC infectious diseases (03.07.2024)
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Journal Article
Analytical validation and implementation of a pan cancer next-generation sequencing panel, CANSeqTMKids for molecular profiling of childhood malignancies
Schilter, Kala F., Smith, Brandon A., Nie, Qian, Stoll, Kathryn, Felix, Juan C., Jarzembowski, Jason A., Reddi, Honey V.
Published in Frontiers in genetics (09.02.2023)
Published in Frontiers in genetics (09.02.2023)
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Journal Article
Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants
Schilter, Kala F, Dubay, Sarah, Stachowiak, Matt, Kaplan, Alysia, Stauffenger, Abby, Reddi, Honey V
Published in Biomarker insights (01.01.2023)
Published in Biomarker insights (01.01.2023)
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Journal Article
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome
Reis, Linda M., Tyler, Rebecca C., Schilter, Kala F., Abdul-Rahman, Omar, Innis, Jeffrey W., Kozel, Beth A., Schneider, Adele S., Bardakjian, Tanya M., Lose, Edward J., Martin, Donna M., Broeckel, Ulrich, Semina, Elena V.
Published in Human genetics (01.10.2011)
Published in Human genetics (01.10.2011)
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Journal Article
A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism
Udani, Rupa, Schilter, Kala F., Tyler, Rebecca C., Smith, Brandon A., Wendt-Andrae, Jaime L., Kappes, Ulrike P., Scharer, Gunter, Lehman, Anna, Steinraths, Michelle, Reddi, Honey V.
Published in Journal of genetics (09.01.2023)
Published in Journal of genetics (09.01.2023)
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Journal Article
Long-term retinal imaging of a case of suspected congenital rubella infection
Langlo, Christopher S., Trotter, Alana, Reddi, Honey V., Schilter, Kala F., Tyler, Rebecca C., Udani, Rupa, Neitz, Maureen, Carroll, Joseph, Connor, Thomas B.
Published in American journal of ophthalmology case reports (01.03.2022)
Published in American journal of ophthalmology case reports (01.03.2022)
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Journal Article
PITX2 and FOXC1 spectrum of mutations in ocular syndromes
REIS, Linda M, TYLER, Rebecca C, SEMINA, Elena V, KLOSS, Bethany A.volkmann, SCHILTER, Kala F, LEVIN, Alex V, LOWRY, R. Brian, ZWIJNENBURG, Petra Jg, STROH, Eliza, BROECKEL, Ulrich, MURRAY, Jeffrey C
Published in European journal of human genetics : EJHG (01.12.2012)
Published in European journal of human genetics : EJHG (01.12.2012)
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Journal Article
Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome
Du, Meijun, Yuan, Tiezheng, Schilter, Kala F, Dittmar, Rachel L, Mackinnon, Alexander, Huang, Xiaoyi, Tschannen, Michael, Worthey, Elizabeth, Jacob, Howard, Xia, Shu, Gao, Jianzhong, Tillmans, Lori, Lu, Yan, Liu, Pengyuan, Thibodeau, Stephen N, Wang, Liang
Published in Human molecular genetics (01.01.2015)
Published in Human molecular genetics (01.01.2015)
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Journal Article
Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics
Siegel, Dawn H., Cottrell, Catherine E., Streicher, Jenna L., Schilter, Kala F., Basel, Donald G., Baselga, Eulalia, Burrows, Patricia E., Ciliberto, Heather M., Vigh-Conrad, Katinka A., Eichenfield, Lawrence F., Holland, Kristen E., Hogeling, Marcia, Jensen, John N., Kelly, Michael E., Kim, Wendy, King, David M., McCuaig, Catherine, Mueller, Katherine A., Pope, Elena, Powell, Julie, Price, Harper, Steiner, Jack E., Frieden, Ilona J., Tollefson, Megha M., Drolet, Beth A.
Published in Journal of investigative dermatology (01.04.2018)
Published in Journal of investigative dermatology (01.04.2018)
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Journal Article
Evaluating direct amplification from viral transport medium for SARS-CoV-2 detection, strain typing, and angiotensin-converting enzyme genotyping and expression assays
Schilter, Kala F, Kapoor, Shivani, Smith, Brandon A, Saleem, Ayofemi, Scott, Samantha J, Batchelor, Dana, Stoll, Kathryn A, Nie, Qian, Reddi, Honey V
Published in Laboratory medicine (02.05.2024)
Published in Laboratory medicine (02.05.2024)
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Journal Article
8q21.11 microdeletion in two patients with syndromic peters anomaly
Happ, Hannah, Schilter, Kala F., Weh, Eric, Reis, Linda M., Semina, Elena V.
Published in American journal of medical genetics. Part A (01.09.2016)
Published in American journal of medical genetics. Part A (01.09.2016)
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Journal Article
Implementation of an Active Screening Program for SARS-CoV2 - Experience at an Academic Medical Center
Udani, Rupa, Schilter, Kala F, Hillmer, Ryan E, Petersen, Rae Ann, Srinivasan, Shankar, Marchant, Jonathan S, Nattinger, Ann, Reddi, Honey V
Published in Wisconsin medical journal (Madison, Wis.) (01.10.2022)
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Published in Wisconsin medical journal (Madison, Wis.) (01.10.2022)
Journal Article
RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy
Schilter, Kala F., Steiner, Jack E., Demos, Wendy, Maheshwari, Mohit, Prokop, Jeremy W., Worthey, Elizabeth, Drolet, Beth A., Siegel, Dawn H.
Published in American journal of medical genetics. Part A (01.09.2017)
Published in American journal of medical genetics. Part A (01.09.2017)
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Journal Article
Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2
Volkmann, Bethany A, Zinkevich, Natalya S, Mustonen, Aki, Schilter, Kala F, Bosenko, Dmitry V, Reis, Linda M, Broeckel, Ulrich, Link, Brian A, Semina, Elena V
Published in Investigative ophthalmology & visual science (01.03.2011)
Published in Investigative ophthalmology & visual science (01.03.2011)
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Journal Article
Analytical validation and implementation of a pan cancer next-generation sequencing panel, CANSeq TM Kids for molecular profiling of childhood malignancies
Schilter, Kala F, Smith, Brandon A, Nie, Qian, Stoll, Kathryn, Felix, Juan C, Jarzembowski, Jason A, Reddi, Honey V
Published in Frontiers in genetics (2023)
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Published in Frontiers in genetics (2023)
Journal Article
Abstract 4105: External user testing of Biofidelity’s ASPYRE-Lung assay demonstrates breakthrough capabilities and ease of use
Powalowska, Paulina, Potts, Nicola, Smith, Brandon A., Schilter, Kala F., Reddi, Honey V., Beppu, Lan, Radich, Jerald, Massie, Charles, Vicentini, Quentin, Brown, Tom, Osborne, Robert, Balmforth, Barnaby
Published in Cancer research (Chicago, Ill.) (15.06.2022)
Published in Cancer research (Chicago, Ill.) (15.06.2022)
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Journal Article
Abstract 5164: Deployment of ASPYRE-Lung targeted variant panel across three sites and testing with FFPE tissue and cytology-derived nucleic acid samples
Herlihy, Sarah E., Gentile, Caren, Scott, Samantha J., Smith, Brandon A., Stoll, Kathryn A., Schilter, Kala F., Mordaka, Justyna, Palmer, Rebecca, Xyrafaki, Christina, Gillon-Zhang, Elizabeth, King, Candace, Evans, Ryan, Green, Amanda, Silva, Ana-Luisa, Stolarek-Januszkiewicz, Magdalena, von Bargen, Kristine, Turner, Iyelola, Ho, Chau Ha, Collazos, Alejandra, Potts, Nicola, Nugent, Dilyara, Jose, Jinsy, Gray, Eleanor, Shapiro, Elyse, Levin, Wendy J., Cooke, Aishling, Balmforth, Barnaby, Osborne, Robert, Reddi, Honey V., Van Deerlin, Vivianna M.
Published in Cancer research (Chicago, Ill.) (22.03.2024)
Published in Cancer research (Chicago, Ill.) (22.03.2024)
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Journal Article
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
Published in Clinical genetics (01.11.2013)
Published in Clinical genetics (01.11.2013)
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Journal Article