Publications by authors named "Katherine Rose"

19Publications

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.

Authors:
Lauren S Akesson Adam Bournazos Andrew Fennell Emma I Krzesinski Kenneth Tan Amanda Springer Katherine Rose Ilias Goranitis David Francis Crystle Lee Fathimath Faiz Mark R Davis John Christodoulou Sebastian Lunke Zornitza Stark Matthew F Hunter Sandra T Cooper

Hum Mutat 2020 Nov 9;41(11):1884-1891. Epub 2020 Sep 9.

Kids Neuroscience Centre, Children's Hospital at Westmead, Sydney, Australia.

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November 2020

An exploration of individual differences in a sample of youth charged with violent sexual and non-sexual crimes.

Authors:
Katherine Rose Michael Woodworth Jennifer Minton

Psychiatr Psychol Law 2020 10;27(1):44-60. Epub 2020 Feb 10.

Oklahoma Office of Juvenile Affairs, Oklahoma City, OK, USA.

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February 2020

Reply: Opioid Prescribing and Consumption Patterns following Outpatient Plastic Surgery Procedures.

Authors:
Katherine Rose Brian Christie Brett Michelotti

Plast Reconstr Surg 2020 01;145(1):217e

Department of Surgery, Division of Plastic Surgery, University of Wisconsin Hospital and Clinics, Madison, Wis.

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January 2020

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.

Authors:
Angélique Quartier Jérémie Courraud Thuong Thi Ha George McGillivray Bertrand Isidor Katherine Rose Nathalie Drouot Marie-Armel Savidan Claire Feger Hélène Jagline Jamel Chelly Marie Shaw Frédéric Laumonnier Jozef Gecz Jean-Louis Mandel Amélie Piton

Hum Mutat 2019 11 29;40(11):2021-2032. Epub 2019 Jul 29.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

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November 2019

Opioid Prescribing and Consumption Patterns following Outpatient Plastic Surgery Procedures.

Authors:
Katherine R Rose Brian M Christie Lisa M Block Venkat K Rao Brett F Michelotti

Plast Reconstr Surg 2019 03;143(3):929-938

From the Division of Plastic and Reconstructive Surgery, University of Wisconsin.

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March 2019

Erratum: Opioid Prescribing and Consumption Trends in Outpatient Plastic Surgery: Erratum.

Authors:
Katherine R Rose Lisa M Block Brian M Christie Venkat K Rao Brett F Michelotti

Plast Reconstr Surg Glob Open 2018 Sep 15;6(9):e1902. Epub 2018 Oct 15.

Division of Plastic and Reconstructive Surgery, University of Wisconsin, Madison.

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September 2018

Use of a Surgical Debriefing Checklist to Achieve Higher Value Health Care.

Authors:
Michael R Rose Katherine M Rose

Am J Med Qual 2018 Sep/Oct;33(5):514-522. Epub 2018 Apr 2.

2 Medical University of South Carolina, Charleston, SC.

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October 2019

Watch Out for Wild Animals: A Systematic Review of Upper Extremity Injuries Caused by Uncommon Species.

Authors:
Jacqueline S Israel James E McCarthy Katherine R Rose Venkat K Rao

Plast Reconstr Surg 2017 Nov;140(5):1008-1022

Madison, Wis.; and Fort Collins, Colo.

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November 2017

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.

Authors:
Elena Buena-Atienza Klaus Rüther Britta Baumann Richard Bergholz David Birch Elfride De Baere Helene Dollfus Marie T Greally Peter Gustavsson Christian P Hamel John R Heckenlively Bart P Leroy Astrid S Plomp Jan Willem R Pott Katherine Rose Thomas Rosenberg Zornitza Stark Joke B G M Verheij Richard Weleber Ditta Zobor Nicole Weisschuh Susanne Kohl Bernd Wissinger

Sci Rep 2016 06 24;6:28253. Epub 2016 Jun 24.

Institute for Ophthalmic Research, Centre for Ophthalmology, Tuebingen, Germany.

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June 2016

Thinking Outside of the Lines: Diagnosing Babesiosis in the Lowcountry.

Authors:
Elizabeth Kirkland Richard A Schatz Katherine Rose Tamara Wolfman

J S C Med Assoc 2015 Mar-Apr;111(1):21-3

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May 2016

Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1.

Authors:
Michael P Guy Marie Shaw Catherine L Weiner Lynne Hobson Zornitza Stark Katherine Rose Vera M Kalscheuer Jozef Gecz Eric M Phizicky

Hum Mutat 2015 Dec 10;36(12):1176-87. Epub 2015 Sep 10.

Department of Biochemistry and Biophysics, University of Rochester School of Medicine, Rochester, New York, 14642.

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December 2015

Dietary supplementation with resveratrol protects against striatal dopaminergic deficits produced by in utero LPS exposure.

Authors:
Katherine M Rose Mayur S Parmar Jane E Cavanaugh

Brain Res 2014 Jul 23;1573:37-43. Epub 2014 May 23.

Division of Pharmacology, Graduate School of Pharmaceutical Sciences, Duquesne University, 600 Forbes Avenue, Pittsburgh, PA 15282, USA. Electronic address:

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July 2014

Experience, knowledge, and opinions about childhood genetic testing in Batten disease.

Authors:
Heather R Adams Katherine Rose Erika F Augustine Jennifer M Kwon Elisabeth A deBlieck Frederick J Marshall Amy Vierhile Jonathan W Mink Martha A Nance

Mol Genet Metab 2014 Feb 4;111(2):197-202. Epub 2013 Nov 4.

Struthers Parkinson's Center, 6701 Country Club Drive, Golden Valley, MN 55427, USA. Electronic address:

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February 2014

Percutaneous trigeminal rhizotomy in a biplane angiosuite: technical assessment.

Authors:
Katherine R Rose Jonathan J Stone Zeguang Ren Henry Wang Babak S Jahromi

J Neurointerv Surg 2014 Nov 23;6(9):699-703. Epub 2013 Oct 23.

Department of Neurosurgery, The University of Rochester Medical Center, Rochester, New York, USA.

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November 2014

Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.

Authors:
Elisabeth A de Blieck Erika F Augustine Frederick J Marshall Heather Adams Jennifer Cialone Leon Dure Jennifer M Kwon Nicole Newhouse Katherine Rose Paul G Rothberg Amy Vierhile Jonathan W Mink

Contemp Clin Trials 2013 Jul 26;35(2):48-54. Epub 2013 Apr 26.

University of Rochester, Rochester, NY 14642, USA.

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July 2013

Females experience a more severe disease course in Batten disease.

Authors:
Jennifer Cialone Heather Adams Erika F Augustine Frederick J Marshall Jennifer M Kwon Nicole Newhouse Amy Vierhile Erika Levy Leon S Dure Katherine R Rose Denia Ramirez-Montealegre Elisabeth A de Blieck Jonathan W Mink

J Inherit Metab Dis 2012 May 14;35(3):549-55. Epub 2011 Dec 14.

University of Rochester, Rochester, NY, USA.

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May 2012

High-level 46XX/46XY chimerism without clinical effect in a healthy multiparous female.

Authors:
Paul A James Katherine Rose David Francis Fiona Norris

Am J Med Genet A 2011 Oct 9;155A(10):2484-8. Epub 2011 Sep 9.

Genetic Health Services Victoria, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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October 2011

Advanced access scheduling outcomes: a systematic review.

Authors:
Katherine D Rose Joseph S Ross Leora I Horwitz

Arch Intern Med 2011 Jul 25;171(13):1150-9. Epub 2011 Apr 25.

Brigham and Women's Hospital, Boston, Massachusetts, USA.

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July 2011

Discharge planning: your last chance to make a good impression.

Authors:
Katherine E Rose Melissa B Haugen

Medsurg Nurs 2010 Jan-Feb;19(1):47-50, 53

Thoracic Surgery, Mayo Clinic, Rochester, MN, USA.

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April 2010