Publications by authors named "Stephanie Wallace"

31Publications

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973139PMC
January 2020

Assessment of the Information Sources and Interest in Research Collaboration Among Individuals with Vascular Ehlers-Danlos Syndrome.

Ann Vasc Surg 2020 Jan 23;62:326-334. Epub 2019 Aug 23.

Division of Medical Genetics, Department of Medicine and Department of Pathology, University of Washington, Seattle, WA.

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http://dx.doi.org/10.1016/j.avsg.2019.06.010DOI Listing
January 2020

Molecular genetic testing for hereditary ataxia: What every neurologist should know.

Neurol Clin Pract 2018 Feb;8(1):27-32

Division of Genetic Medicine, Department of Pediatrics (SEW), and Departments of Neurology and Medicine (TDB), University of Washington, Seattle.

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http://dx.doi.org/10.1212/CPJ.0000000000000421DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839675PMC
February 2018

Impact of preoperative screening for rectal colonization with fluoroquinolone-resistant enteric bacteria on the incidence of sepsis following transrectal ultrasound guided prostate biopsy.

Res Rep Urol 2017 24;9:37-41. Epub 2017 Feb 24.

Department of Urology, Cooper University Hospital; Department of Surgery, Cooper University School of Medicine, Camden, NJ, USA.

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http://dx.doi.org/10.2147/RRU.S117206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5338954PMC
February 2017

Cumulative Effect of Racial Discrimination on the Mental Health of Ethnic Minorities in the United Kingdom.

Am J Public Health 2016 07 14;106(7):1294-300. Epub 2016 Apr 14.

All of the authors are with Centre on Dynamics of Ethnicity, University of Manchester, Manchester, Lancashire, UK.

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http://dx.doi.org/10.2105/AJPH.2016.303121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4984732PMC
July 2016

Precision medical and surgical management for thoracic aortic aneurysms and acute aortic dissections based on the causative mutant gene.

J Cardiovasc Surg (Torino) 2016 Apr 2;57(2):172-7. Epub 2016 Feb 2.

Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA -

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April 2016

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

Neuromuscul Disord 2014 Apr 11;24(4):312-20. Epub 2014 Jan 11.

Department of Neurology, University of Washington, Seattle, WA, United States; Department of Pediatrics, University of Washington, Seattle, WA, United States; Seattle Children's Hospital, Seattle, WA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959257PMC
April 2014

Improving the value of costly genetic reference laboratory testing with active utilization management.

Arch Pathol Lab Med 2014 Jan;138(1):110-3

From the Department of Laboratories (Drs Dickerson, Cole, Jack, Rutledge, and Astion and Mss Conta and Wellner) and the Division of Genetic Medicine (Dr Wallace), Seattle Children's Hospital, Seattle, Washington; the Departments of Laboratory Medicine (Drs Dickerson, Jack, Rutledge, and Astion) and Pathology (Dr Cole), University of Washington, Seattle; and the Department of Pediatrics, University of Washington School of Medicine, Seattle (Dr Wallace).

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http://dx.doi.org/10.5858/arpa.2012-0726-OADOI Listing
January 2014

Sexual and general offending trajectories of men referred for civil commitment.

Sex Abuse 2014 Aug 8;26(4):311-29. Epub 2013 Jul 8.

Department of Mathematics and Statistics, Lancaster University, UK.

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http://dx.doi.org/10.1177/1079063213492341DOI Listing
August 2014

Physicochemical aspects of the coformulation of colistin and azithromycin using liposomes for combination antibiotic therapies.

J Pharm Sci 2013 May 21;102(5):1578-87. Epub 2013 Mar 21.

Drug Delivery, Disposition and Dynamics, Monash Institute of Pharmaceutical Sciences, Monash University (Parkville Campus), Parkville Victoria 3052, Australia.

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http://dx.doi.org/10.1002/jps.23508DOI Listing
May 2013

Drug release from nanomedicines: Selection of appropriate encapsulation and release methodology.

Drug Deliv Transl Res 2012 Aug 3;2(4):284-92. Epub 2012 Mar 3.

Drug Delivery, Disposition and Dynamics, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Melbourne, Victoria 3052, Australia.

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http://dx.doi.org/10.1007/s13346-012-0064-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482165PMC
August 2012

Interaction of colistin and colistin methanesulfonate with liposomes: colloidal aspects and implications for formulation.

J Pharm Sci 2012 Sep 23;101(9):3347-59. Epub 2012 May 23.

Drug Delivery, Disposition and Dynamics, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1002/jps.23203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3437939PMC
September 2012

Self-assembly behavior of colistin and its prodrug colistin methanesulfonate: implications for solution stability and solubilization.

J Phys Chem B 2010 Apr;114(14):4836-40

Facility for Anti-Infective Drug Development and Innovation, Monash Institute of Pharmaceutical Sciences, Parkville, Melbourne, Victoria 3052, Australia.

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http://dx.doi.org/10.1021/jp100458xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2881163PMC
April 2010

Stability of colistin methanesulfonate in pharmaceutical products and solutions for administration to patients.

Antimicrob Agents Chemother 2008 Sep 7;52(9):3047-51. Epub 2008 Jul 7.

Facility for Anti-Infective Drug Development and Innovation, Drug Delivery, Disposition and Dynamics, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1128/AAC.00103-08DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2533443PMC
September 2008

Subacute toxicity of colistin methanesulfonate in rats: comparison of various intravenous dosage regimens.

Antimicrob Agents Chemother 2008 Mar 7;52(3):1159-61. Epub 2008 Jan 7.

Facility for Anti-infective Drug Development and Innovation, Victorian College of Pharmacy, Monash University, 381 Royal Parade, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1128/AAC.01101-07DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2258545PMC
March 2008

Comparison of nonlinear dynamic methods and perturbation methods for voice analysis.

J Acoust Soc Am 2005 Oct;118(4):2551-60

Department of Surgery, Division of Otolaryngology Head and Neck Surgery, University of Wisconsin Medical School, Madison, Wisconsin 53792-7375, USA.

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http://dx.doi.org/10.1121/1.2005907DOI Listing
October 2005

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.

Am J Med Genet A 2004 Sep;129A(3):235-47

Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1002/ajmg.a.30148DOI Listing
September 2004