Robert S Greenwood

Robert S Greenwood

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Robert S Greenwood

Robert S Greenwood

Publications by authors named "Robert S Greenwood"

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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 2019 Oct 8. Epub 2019 Oct 8.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
October 2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

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

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

Comment: Genotype-phenotype correlations in NF1: A case for routine genetic testing.

Neurology 2018 02 24;90(8):380. Epub 2018 Jan 24.

From the Department of Neurology (C.J.C.), Stanford University School of Medicine, CA; and Departments of Neurology and Pediatrics (R.S.G.), University of North Carolina School of Medicine, Chapel Hill.

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http://dx.doi.org/10.1212/WNL.0000000000005009DOI Listing
February 2018

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

Neurol Genet 2018 Feb 1;4(1):e212. Epub 2018 Feb 1.

Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.

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http://dx.doi.org/10.1212/NXG.0000000000000212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798313PMC
February 2018

Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome.

Front Neurol 2016 4;7:67. Epub 2016 May 4.

School of Medicine, University of North Carolina School of Medicine, Chapel Hill, NC, USA; Division of Child Neurology, Department of Neurology, University of North Carolina School of Medicine, Chapel Hill, NC, USA.

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http://journal.frontiersin.org/Article/10.3389/fneur.2016.00
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http://dx.doi.org/10.3389/fneur.2016.00067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4854866PMC
May 2016

Changing child neurology training: evolution or revolution?

J Child Neurol 2012 Feb 12;27(2):264-6. Epub 2012 Jan 12.

University of North Carolina School of Medicine, Chapel Hill, NC, USA.

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http://dx.doi.org/10.1177/0883073811427604DOI Listing
February 2012

Brain morphometry, T2-weighted hyperintensities, and IQ in children with neurofibromatosis type 1.

Arch Neurol 2005 Dec;62(12):1904-8

Department of Neurology, University of North Carolina School of Medicine, The University of North Carolina at Chapel Hill, 27514-7025, USA.

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http://dx.doi.org/10.1001/archneur.62.12.1904DOI Listing
December 2005

Did a rising tide lift all boats? The NIH budget and pediatric research portfolio.

Health Aff (Millwood) 2004 Sep-Oct;23(5):113-24

University of North Carolina, at Chapel Hill, USA.

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http://dx.doi.org/10.1377/hlthaff.23.5.113DOI Listing
December 2004

Morphometric and neuropsychologic studies in children with arachnoid cysts.

Pediatr Neurol 2002 Feb;26(2):134-8

Department of Neurology, Yale University, New Haven, Connecticut 06520-8018, USA.

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http://dx.doi.org/10.1016/s0887-8994(01)00379-4DOI Listing
February 2002