Publications by authors named "Stephanie E Wallace"

13Publications

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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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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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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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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February 2017

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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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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January 2014

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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September 2004