Cynthia M Powell

Cynthia M Powell

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Cynthia M Powell

Cynthia M Powell

Publications by authors named "Cynthia M Powell"

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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 2020 Jan 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
January 2020

What is Newborn Screening?

Authors:
Cynthia M Powell

N C Med J 2019 Jan-Feb;80(1):32-36

professor of Pediatrics and Genetics, Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina

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http://dx.doi.org/10.18043/ncm.80.1.32DOI Listing
July 2019

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.

Am J Med Genet A 2017 Oct 27;173(10):2720-2724. Epub 2017 Jul 27.

Department of Pediatrics, Division of Genetics and Metabolism, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.38351DOI Listing
October 2017

Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.

Pediatrics 2017 Jun;139(Suppl 3):S216-S225

Center for Newborn Screening, Ethics, and Disability Studies, RTI International, Research Triangle Park, North Carolina.

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http://dx.doi.org/10.1542/peds.2016-1159HDOI Listing
June 2017

Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.

Am J Med Genet A 2017 Apr 9;173(4):1097-1101. Epub 2017 Feb 9.

Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.38141DOI Listing
April 2017

Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study.

Am J Med Genet A 2016 Apr 10;170A(4):825-37. Epub 2015 Dec 10.

Texas Department of State Health Services, Birth Defects Epidemiology and Surveillance Branch, Austin, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898882PMC
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

Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening.

Cold Spring Harb Perspect Med 2015 Oct 5;5(12). Epub 2015 Oct 5.

Departments of Pediatrics and Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599-7264.

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http://dx.doi.org/10.1101/cshperspect.a023150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4665041PMC
October 2015

Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening.

Pediatrics 2015 Aug 13;136(2):e433-40. Epub 2015 Jul 13.

Frank Porter Graham Child Development Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2015-0414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4516945PMC
August 2015

Genetics of hemangiomas, vascular malformations, and primary lymphedema.

J Pediatr Hematol Oncol 2014 Nov;36(8):587-93

Department of Pediatrics, Divisions of *Pediatric Hematology Oncology ‡Pediatric Genetics and Metabolism §Department of Pediatric Dermatology ∥Department of Radiology, The Division of Interventional Radiology †The Vascular Anomalies Clinic, The University of North Carolina School of Medicine, Chapel Hill, NC.

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http://dx.doi.org/10.1097/MPH.0000000000000260DOI Listing
November 2014

Sensorineural hearing loss in a pediatric population: association of congenital cytomegalovirus infection with intracranial abnormalities.

Arch Otolaryngol Head Neck Surg 2010 Oct;136(10):999-1004

Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Campus Box 7600, Chapel Hill, NC 27514, USA.

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http://dx.doi.org/10.1001/archoto.2010.156DOI Listing
October 2010

Laboratory guideline for Turner syndrome.

Genet Med 2010 Jan;12(1):52-5

Department of Pathology and Laboratory Medicine, University of South Carolina, Charleston, South Carolina 29425, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181c684b2DOI Listing
January 2010

Prenatal diagnosis of mosaic complete trisomy 1q.

Am J Med Genet A 2009 Aug;149A(8):1801-5

Department of Obstetrics and Gynecology, University of North Carolina at Chapel Hill, 27599-7516, USA.

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http://dx.doi.org/10.1002/ajmg.a.32986DOI Listing
August 2009

Weaver syndrome and neuroblastoma.

J Pediatr Hematol Oncol 2008 Oct;30(10):758-60

Division of Hematology-Oncology, Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC 27599-7220, USA.

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http://dx.doi.org/10.1097/MPH.0b013e3181758974DOI Listing
October 2008

Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.

Am J Med Genet A 2008 Jul;146A(14):1832-41

Curriculum in Genetics and Molecular Biology, University of North Carolina, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1002/ajmg.a.32370DOI Listing
July 2008

Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfecta.

Arch Oral Biol 2005 Jul 2;50(7):611-23. Epub 2005 Mar 2.

Department of Orthodontics, School of Dentistry, University of North Carolina-Chapel Hill, Chapel Hill, NC, USA.

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http://dx.doi.org/10.1016/j.archoralbio.2004.12.003DOI Listing
July 2005