Publications by authors named "Kala F Schilter"

8Publications

Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics.

Authors:
Dawn H Siegel Catherine E Cottrell Jenna L Streicher Kala F Schilter Donald G Basel Eulalia Baselga Patricia E Burrows Heather M Ciliberto Katinka A Vigh-Conrad Lawrence F Eichenfield Kristen E Holland Marcia Hogeling John N Jensen Michael E Kelly Wendy Kim David M King Catherine McCuaig Katherine A Mueller Elena Pope Julie Powell Harper Price Jack E Steiner Ilona J Frieden Megha M Tollefson Beth A Drolet

J Invest Dermatol 2018 04 22;138(4):957-967. Epub 2017 Nov 22.

Department of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA. Electronic address:

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April 2018

RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.

Authors:
Kala F Schilter Jack E Steiner Wendy Demos Mohit Maheshwari Jeremy W Prokop Elizabeth Worthey Beth A Drolet Dawn H Siegel

Am J Med Genet A 2017 Sep 7;173(9):2557-2561. Epub 2017 Jul 7.

Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.

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September 2017

8q21.11 microdeletion in two patients with syndromic peters anomaly.

Authors:
Hannah Happ Kala F Schilter Eric Weh Linda M Reis Elena V Semina

Am J Med Genet A 2016 09 5;170(9):2471-5. Epub 2016 Jul 5.

Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, Wisconsin.

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September 2016

Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype.

Authors:
Kala F Schilter Linda M Reis Elena A Sorokina Elena V Semina

Mol Genet Genomic Med 2015 Nov 2;3(6):490-9. Epub 2015 Jun 2.

Department of Pediatrics and Children's Research InstituteMedical College of WisconsinMilwaukeeWisconsin53226; Department of Cell Biology, Neurobiology and AnatomyMedical College of WisconsinMilwaukeeWisconsin53226.

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November 2015

Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome.

Authors:
Meijun Du Tiezheng Yuan Kala F Schilter Rachel L Dittmar Alexander Mackinnon Xiaoyi Huang Michael Tschannen Elizabeth Worthey Howard Jacob Shu Xia Jianzhong Gao Lori Tillmans Yan Lu Pengyuan Liu Stephen N Thibodeau Liang Wang

Hum Mol Genet 2015 Jan 22;24(1):154-66. Epub 2014 Aug 22.

Department of Pathology and Cancer Center

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January 2015

PITX2 and FOXC1 spectrum of mutations in ocular syndromes.

Authors:
Linda M Reis Rebecca C Tyler Bethany A Volkmann Kloss Kala F Schilter Alex V Levin R Brian Lowry Petra J G Zwijnenburg Eliza Stroh Ulrich Broeckel Jeffrey C Murray Elena V Semina

Eur J Hum Genet 2012 Dec 9;20(12):1224-33. Epub 2012 May 9.

Department of Pediatrics and Children's Research Institute, Milwaukee, WI, USA.

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December 2012

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.

Authors:
Linda M Reis Rebecca C Tyler Kala F Schilter Omar Abdul-Rahman Jeffrey W Innis Beth A Kozel Adele S Schneider Tanya M Bardakjian Edward J Lose Donna M Martin Ulrich Broeckel Elena V Semina

Hum Genet 2011 Oct 22;130(4):495-504. Epub 2011 Feb 22.

Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.

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October 2011

Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2.

Authors:
Bethany A Volkmann Natalya S Zinkevich Aki Mustonen Kala F Schilter Dmitry V Bosenko Linda M Reis Ulrich Broeckel Brian A Link Elena V Semina

Invest Ophthalmol Vis Sci 2011 Mar 18;52(3):1450-9. Epub 2011 Mar 18.

Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

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March 2011