Publications Authored by Cynthia M Powell

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.23929	DOI Listing

January 2020

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.

Authors:

Neeta L Vora Kelly Gilmore Alicia Brandt Chelsea Gustafson Natasha Strande Lori Ramkissoon Emily Hardisty Ann Katherine M Foreman Kirk Wilhelmsen Phillips Owen Karen E Weck Jonathan S Berg Cynthia M Powell Bradford C Powell

Genet Med 2020 Jan 24. Epub 2020 Jan 24.

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

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http://dx.doi.org/10.1038/s41436-020-0750-4	DOI Listing

January 2020

FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation.

Authors:

Laura V Milko Flavia Chen Kee Chan Amy M Brower Pankaj B Agrawal Alan H Beggs Jonathan S Berg Steven E Brenner Ingrid A Holm Barbara A Koenig Richard B Parad Cynthia M Powell Stephen F Kingsmore

NPJ Genom Med 2019 10;4:32. Epub 2019 Dec 10.

12Rady Children's Institute for Genomic Medicine, San Diego, CA 92123 USA.

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http://dx.doi.org/10.1038/s41525-019-0105-8	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6904743	PMC

December 2019

Values clarification and parental decision making about newborn genomic sequencing.

Authors:

Susana Peinado Ryan S Paquin Christine Rini Myra Roche Rita M Butterfield Jonathan S Berg Cynthia M Powell Donald B Bailey Megan A Lewis

Health Psychol 2019 Dec 30. Epub 2019 Dec 30.

Center for Communication Science.

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http://dx.doi.org/10.1037/hea0000829	DOI Listing

December 2019

The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.

Authors:

Jennifer L Taylor Kristin Clinard Cynthia M Powell Catherine Rehder Sarah P Young Deeksha Bali Sara E Beckloff Lisa M Gehtland Alex R Kemper Stacey Lee David Millington Hari S Patel Scott M Shone Carol Woodell Scott J Zimmerman Donald B Bailey Joseph Muenzer

J Pediatr 2019 Aug 24;211:193-200.e2. Epub 2019 May 24.

University of North Carolina at Chapel Hill, Chapel Hill,NC.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476193050	Publisher Site
http://dx.doi.org/10.1016/j.jpeds.2019.04.027	DOI Listing

August 2019

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.80.1.32	DOI Listing

July 2019

Early Check: translational science at the intersection of public health and newborn screening.

BMC Pediatr 2019 Jul 17;19(1):238. Epub 2019 Jul 17.

North Carolina State Laboratory of Public Health, Raleigh, NC, USA.

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http://dx.doi.org/10.1186/s12887-019-1606-4	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6636013	PMC

July 2019

An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.

Authors:

Laura V Milko Julianne M O'Daniel Daniela M DeCristo Stephanie B Crowley Ann Katherine M Foreman Kathleen E Wallace Lonna F Mollison Natasha T Strande Zahra S Girnary Lacey J Boshe Arthur S Aylsworth Muge Gucsavas-Calikoglu Dianne M Frazier Neeta L Vora Myra I Roche Bradford C Powell Cynthia M Powell Jonathan S Berg

J Pediatr 2019 Jun 7;209:68-76. Epub 2019 Mar 7.

Department of Genetics, UNC Chapel Hill, Chapel Hill, NC. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2018.12.027	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6535354	PMC

June 2019

A behavior-theoretic evaluation of values clarification on parental beliefs and intentions toward genomic sequencing for newborns.

Authors:

Ryan S Paquin Susana Peinado Megan A Lewis Barbara B Biesecker Christine Rini Myra Roche Rita M Butterfield Cynthia M Powell Jonathan S Berg Donald B Bailey

Soc Sci Med 2018 Nov 9:112037. Epub 2018 Nov 9.

RTI International, Research Triangle Park, NC, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S02779536183065	Publisher Site
http://dx.doi.org/10.1016/j.socscimed.2018.11.017	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509013	PMC

November 2018

What Genomic Sequencing Can Offer Universal Newborn Screening Programs.

Authors:

Cynthia M Powell

Hastings Cent Rep 2018 07;48 Suppl 2:S18-S19

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http://dx.doi.org/10.1002/hast.878	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6863503	PMC

July 2018

Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol.

Authors:

Laura V Milko Christine Rini Megan A Lewis Rita M Butterfield Feng-Chang Lin Ryan S Paquin Bradford C Powell Myra I Roche Katherine J Souris Donald B Bailey Jonathan S Berg Cynthia M Powell

Trials 2018 Jun 28;19(1):344. Epub 2018 Jun 28.

Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.

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http://dx.doi.org/10.1186/s13063-018-2686-4	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6022715	PMC

June 2018

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Authors:

Yuri A Zarate Constance L Smith-Hicks Carol Greene Mary-Alice Abbott Victoria M Siu Amy R U L Calhoun Arti Pandya Chumei Li Elizabeth A Sellars Julie Kaylor Katherine Bosanko Louisa Kalsner Alice Basinger Anne M Slavotinek Hazel Perry Margarita Saenz Marta Szybowska Louise C Wilson Ajith Kumar Caroline Brain Meena Balasubramanian Holly Dubbs Xilma R Ortiz-Gonzalez Elaine Zackai Quinn Stein Cynthia M Powell Samantha Schrier Vergano Allison Britt Angela Sun Wendy Smith E Martina Bebin Jonathan Picker Amelia Kirby Hailey Pinz Hannah Bombei Sonal Mahida Julie S Cohen Ali Fatemi Hilary J Vernon Rebecca McClellan Leah R Fleming Brittney Knyszek Michelle Steinraths Cruz Velasco Gonzalez Anita E Beck Katie L Golden-Grant Alena Egense Aditi Parikh Chantalle Raimondi Brad Angle William Allen Suzanna Schott Adi Algrabli Nathaniel H Robin Joseph W Ray David B Everman Michael J Gambello Wendy K Chung

Am J Med Genet A 2018 04 13;176(4):925-935. Epub 2018 Feb 13.

Department of Pediatrics and Medicine, Columbia University, New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.38630	DOI Listing

April 2018

Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment.

Authors:

Megan A Lewis Alex Stine Ryan S Paquin Carol Mansfield Dallas Wood Christine Rini Myra I Roche Cynthia M Powell Jonathan S Berg Donald B Bailey

Genet Med 2018 02 3;20(2):181-189. Epub 2017 Aug 3.

RTI International, Research Triangle Park, Durham, North Carolina, USA.

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http://dx.doi.org/10.1038/gim.2017.93	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868968	PMC

February 2018

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.

Authors:

Neeta L Vora Bradford Powell Alicia Brandt Natasha Strande Emily Hardisty Kelly Gilmore Ann Katherine M Foreman Kirk Wilhelmsen Chris Bizon Jason Reilly Phil Owen Cynthia M Powell Debra Skinner Christine Rini Anne D Lyerly Kim A Boggess Karen Weck Jonathan S Berg James P Evans

Genet Med 2017 11 18;19(11):1207-1216. Epub 2017 May 18.

Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1038/gim.2017.33	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5675748	PMC

November 2017

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

Authors:

Natario L Couser Daniel S Marchuk Laurie D Smith Alexandra Arreola Kathleen A Kaiser-Rogers Joseph Muenzer Arti Pandya Muge Gucsavas-Calikoglu Cynthia M Powell

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.38351	DOI Listing

October 2017

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

Authors:

Donald B Bailey Elizabeth Berry-Kravis Louise W Gane Sonia Guarda Randi Hagerman Cynthia M Powell Flora Tassone Anne Wheeler

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.2016-1159H	DOI Listing

June 2017

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

Authors:

Natario L Couser Chetna K Pande Christie M Turcott Elaine B Spector Arthur S Aylsworth Cynthia M Powell

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.38141	DOI Listing

April 2017

Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics.

Authors:

Frederick R Bieber Athena M Cherry Beverly S Emanuel Uta Francke H Eugene Hoyme Laird G Jackson Cynthia C Morton Maximillian Muenke Cynthia M Powell Hope H Punnett P Nagesh Rao Stuart Schwartz Roger E Stevenson Daniel L Van Dyke

Genet Med 2017 03 17;19(3):294-296. Epub 2016 Nov 17.

Mayo Clinic Cytogenetics Laboratory, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1038/gim.2016.171	DOI Listing

March 2017

Newborn Sequencing in Genomic Medicine and Public Health.

Pediatrics 2017 Feb 17;139(2). Epub 2017 Jan 17.

National Human Genome Research Institute and.

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http://dx.doi.org/10.1542/peds.2016-2252	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5260149	PMC

February 2017

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.

Authors:

Jonathan S Berg Ann Katherine M Foreman Julianne M O'Daniel Jessica K Booker Lacey Boshe Timothy Carey Kristy R Crooks Brian C Jensen Eric T Juengst Kristy Lee Daniel K Nelson Bradford C Powell Cynthia M Powell Myra I Roche Cecile Skrzynia Natasha T Strande Karen E Weck Kirk C Wilhelmsen James P Evans

Genet Med 2016 05 13;18(5):467-75. Epub 2015 Aug 13.

Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1038/gim.2015.104	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752935	PMC

May 2016

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

Authors:

Robert E Meyer Gang Liu Suzanne M Gilboa Mary K Ethen Arthur S Aylsworth Cynthia M Powell Timothy J Flood Cara T Mai Ying Wang Mark A Canfield

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.37495	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898882	PMC

April 2016

Supporting Parental Decisions About Genomic Sequencing for Newborn Screening: The NC NEXUS Decision Aid.

Authors:

Megan A Lewis Ryan S Paquin Myra I Roche Robert D Furberg Christine Rini Jonathan S Berg Cynthia M Powell Donald B Bailey

Pediatrics 2016 Jan;137 Suppl 1:S16-23

RTI International, Research Triangle Park, North Carolina; and.

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http://dx.doi.org/10.1542/peds.2015-3731E	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4922487	PMC

January 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.

Authors:

Kitiwan Rojnueangnit Jing Xie Alicia Gomes Angela Sharp Tom Callens Yunjia Chen Ying Liu Meagan Cochran Mary-Alice Abbott Joan Atkin Dusica Babovic-Vuksanovic Christopher P Barnett Melissa Crenshaw Dennis W Bartholomew Lina Basel Gary Bellus Shay Ben-Shachar Martin G Bialer David Bick Bruce Blumberg Fanny Cortes Karen L David Anne Destree Anna Duat-Rodriguez Dawn Earl Luis Escobar Marthanda Eswara Begona Ezquieta Ian M Frayling Moshe Frydman Kathy Gardner Karen W Gripp Concepcion Hernández-Chico Kurt Heyrman Jennifer Ibrahim Sandra Janssens Beth A Keena Isabel Llano-Rivas Kathy Leppig Marie McDonald Vinod K Misra Jennifer Mulbury Vinodh Narayanan Naama Orenstein Patricia Galvin-Parton Helio Pedro Eniko K Pivnick Cynthia M Powell Linda Randolph Salmo Raskin Jordi Rosell Karol Rubin Margretta Seashore Christian P Schaaf Angela Scheuerle Meredith Schultz Elizabeth Schorry Rhonda Schnur Elizabeth Siqveland Amanda Tkachuk James Tonsgard Meena Upadhyaya Ishwar C Verma Stephanie Wallace Charles Williams Elaine Zackai Jonathan Zonana Conxi Lazaro Kathleen Claes Bruce Korf Yolanda Martin Eric Legius Ludwine Messiaen

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/PMC5049609	PMC
http://dx.doi.org/10.1002/humu.22832	DOI Listing

November 2015

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

Authors:

Jonathan S Berg Cynthia M Powell

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.a023150	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4665041	PMC

October 2015

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

Authors:

Natario L Couser Maheer M Masood Natasha T Strande Ann Katherine M Foreman Kristy Crooks Karen E Weck Mei Lu Kirk C Wilhelmsen Myra Roche James P Evans Jonathan S Berg Cynthia M Powell

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.

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http://doi.wiley.com/10.1002/ajmg.a.37129	Publisher Site
http://dx.doi.org/10.1002/ajmg.a.37129	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6108425	PMC

September 2015

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

Authors:

Donald B Bailey Anne Wheeler Elizabeth Berry-Kravis Randi Hagerman Flora Tassone Cynthia M Powell Myra Roche Louise W Gane John Sideris

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	Publisher Site
http://dx.doi.org/10.1542/peds.2015-0414	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4516945	PMC

August 2015

Genetics of hemangiomas, vascular malformations, and primary lymphedema.

Authors:

Julie Blatt Cynthia M Powell Craig N Burkhart Joseph Stavas Arthur S Aylsworth

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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