Publications by authors named "Cynthia M Powell"

48Publications

Newborn Screening and Long-term Outcomes.

Authors:
Cynthia M Powell

Pediatrics 2020 11 13;146(5). Epub 2020 Oct 13.

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

View Article and Find Full Text PDF
November 2020

Parental Views on Newborn Next Generation Sequencing: Implications for Decision Support.

Matern Child Health J 2020 Jul;24(7):856-864

Center for Communication Science, RTI International, 3040 E. Cornwallis Road, Research Triangle Park, NC, 27709-2194, USA.

View Article and Find Full Text PDF
July 2020

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.

View Article and Find Full Text PDF
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

View Article and Find Full Text PDF
July 2019

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.

View Article and Find Full Text PDF
June 2017

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.

View Article and Find Full Text PDF
October 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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
April 2016

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.

View Article and Find Full Text PDF
October 2015

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.

View Article and Find Full Text PDF
November 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.

View Article and Find Full Text PDF
August 2015

The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

Am J Med Genet A 2015 Sep 29;167A(9):2176-81. Epub 2015 Apr 29.

Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.

View Article and Find Full Text PDF
September 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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
October 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.

View Article and Find Full Text PDF
July 2005