C. Powell

D. Wallace, C. Powell, M. Mah, 2000, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects.

C. Powell, H. Saal, R. Chandra, 1993, American journal of medical genetics.

Reproduction, Ethics, Prenatal Testing, and the Disability Rights Critique

E. Parens, C. Powell, A. Asch, 2002 .

Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making

J. Berg, Julianne M. O’Daniel, C. Powell, 2021, Genome medicine.

Emerging dilemmas in newborn screening.

D. Skinner, C. Powell, M. Roche, 2009, The virtual mentor : VM.

AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome

Larry N. Singh, L. Biesecker, M. Gambello, 2013, The Journal of investigative dermatology.

Genetics of Hemangiomas, Vascular Malformations, and Primary Lymphedema

C. Powell, A. Aylsworth, C. Burkhart, 2014, Journal of pediatric hematology/oncology.

Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States.

L. Prosser, A. Kemper, C. Powell, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Newborn Screening and Long-term Outcomes

C. Powell, 2020, Pediatrics.

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

C. Powell, T. Hart, C. Phillips, 2005, Archives of oral biology.

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

M. Castillo, C. Buchman, C. Powell, 2010, Archives of otolaryngology--head & neck surgery.

What is Newborn Screening?

C. Powell, 2019, North Carolina Medical Journal.

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

J. Rosenfeld, L. Shaffer, J. Ellison, 2012, neurogenetics.

Contiguous Gene Syndrome with Multiple Exostoses, Enlarged Parietal Foramina, Craniofacial Dysostosis, and Mental Retardation, Caused by Deletions

L. Shaffer, W. Hul, C. Powell, 2007 .

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

J. Berg, D. Bailey, C. Powell, 2018, Trials.

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

J. Berg, C. Powell, 2015, Cold Spring Harbor perspectives in medicine.

β-Blockers for Infantile Hemangiomas: A Single-Institution Experience

C. Zdanski, C. Powell, S. Gold, 2011, Clinical pediatrics.

Diagnosis of human congenital cytomegalovirus infection by amplification of viral DNA from dried blood spots on perinatal cards.

M. Gulley, L. Thorne, C. Powell, 2006, The Journal of molecular diagnostics : JMD.

Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature.

C. Powell, L. Nelson, C. Qian, 1994, American journal of medical genetics.

Sex Chromosomes, Sex Chromosome Disorders, and Disorders of Sex Development

C. Powell, 2013 .

Sex Chromosomes and Sex Chromosome Abnormalities

C. Powell, 2005 .

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy

Jeremy W. Linsley, Hiromi Hirata, M. Hauser, 2013, Nature Communications.

Genetic studies of autistic disorder and chromosome 7.

J. Gilbert, M. Cuccaro, M. Pericak-Vance, 1999, Genomics.

Townes-Brocks syndrome

C. Powell, R. Michaelis, 1999, Journal of Medical Genetics.

Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism

Christa Lese Martin, D. Geschwind, E. Cook, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

J. Rosenfeld, J. Lupski, R. Gibbs, 2021, HGG advances.

Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

J. Rosenfeld, L. Shaffer, B. Ballif, 2009, PloS one.

Usefulness and limitations of FISH to characterize partially cryptic complex chromosome rearrangements.

C. Powell, R. Michaelis, K. Kaiser-Rogers, 2000, American journal of medical genetics.

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.

T. Meitinger, T. Strom, P. Lichtner, 2020, American journal of human genetics.

Prenatal Exome Sequencing in Anomalous Fetuses: New Opportunities and Challenges

J. Berg, D. Skinner, C. Bizon, 2017, Genetics in Medicine.

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

Joseph W Ray, Anne M Slavotinek, Elaine Zackai, 2018, American journal of medical genetics. Part A.

Combination of exome sequencing and immune testing confirms Aicardi–Goutières syndrome type 5 in a challenging pediatric neurology case

Jonathan S. Berg, James P. Evans, Karen E. Weck, 2018, Cold Spring Harbor molecular case studies.

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

J. Berg, Julianne M. O’Daniel, Kristy Lee, 2015, Genetics in Medicine.

Newborn Sequencing in Genomic Medicine and Public Health

Tiina K. Urv, N. Risch, P. Kwok, 2017, Pediatrics.

Cell‐free DNA testing in a trisomy 21 pregnancy with confined placental mosaicism for a cell line with trisomy for both chromosomes 18 and 21

C. Powell, N. Vora, K. Crooks, 2015, Clinical case reports.

Weaver syndrome and neuroblastoma.

C. Powell, D. Coulter, S. Gold, 2008, Journal of pediatric hematology/oncology.

Prenatal diagnosis of mosaic trisomy 13: a case report

C. Powell, S. R. Eubanks, J. A. Kuller, 1998, Prenatal diagnosis.

Prenatal diagnosis of mosaic complete trisomy 1q

H. Wolfe, C. Powell, K. Kaiser-Rogers, 2009, American journal of medical genetics. Part A.

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

C. Powell, A. Aylsworth, S. Gilboa, 2016, American journal of medical genetics. Part A.

Outreach to new mothers through direct mail and email: recruitment in the Early Check research study

C. Powell, Megan A. Lewis, M. Raspa, 2020, Clinical and translational science.

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

J. Sideris, D. Bailey, C. Powell, 2015, Pediatrics.

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

J. Berg, R. Furberg, D. Bailey, 2016, Pediatrics.

Ethical, Legal, and Social Concerns About Expanded Newborn Screening: Fragile X Syndrome as a Prototype for Emerging Issues

A. Davis, D. Skinner, D. Bailey, 2008, Pediatrics.

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.

Tamara S. Roman, J. Berg, Julianne M. O’Daniel, 2020, American journal of human genetics.

Mosaic 5p tetrasomy.

C. Powell, C. Samango-Sprouse, B. A. Murphy, 1993, American journal of medical genetics.

Family Relations in the Genomic Era: Communicating about Intergenerational Transmission of Risk for Disability

D. Bailey, C. Powell, Megan A. Lewis, 2014 .

DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

Lora J. H. Bean, R. Green, M. Watson, 2021, Genetics in Medicine.

Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1

J. Gilbert, D. Stephan, V. Zismann, 2008, Neurology.

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

J. Rosenfeld, L. Shaffer, J. Ellison, 2012, neurogenetics.

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

J. Berg, Julianne M. O’Daniel, C. Powell, 2019, The Journal of pediatrics.

What Genomic Sequencing Can Offer Universal Newborn Screening Programs.

C. Powell, 2018, The Hastings Center report.

X-chromosome effects on female brain: a magnetic resonance imaging study of Turner's syndrome

B Horwitz, J. Haxby, B. Horwitz, 1993, The Lancet.

Training the next generation of genomic medicine providers: trends in medical education and national assessment

C. Powell, G. Feldman, D. Waggoner, 2020, Genetics in Medicine.

A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check

D. Bailey, C. Powell, C. Rehder, 2021, International journal of neonatal screening.

Design and Evaluation of a Decision Aid for Inviting Parents to Participate in a Fragile X Newborn Screening Pilot Study

D. Bailey, C. Powell, Megan A. Lewis, 2013, Journal of Genetic Counseling.

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing

Jill L. Maron, S. Kingsmore, Marilyn C. Jones, 2023, American journal of medical genetics. Part A.

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

J. Berg, K. Wilhelmsen, Phillips Owen, 2020, Genetics in Medicine.

The phenotype of multiple congenital anomalies‐hypotonia‐seizures syndrome 1: Report and review

J. Berg, K. Wilhelmsen, C. Powell, 2015, American journal of medical genetics. Part A.

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

C. Powell, A. Aylsworth, E. Spector, 2017, American journal of medical genetics. Part A.

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

J. Berg, K. Wilhelmsen, Phillips Owen, 2020, Genetics in Medicine.

Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening.

L. Prosser, A. Kemper, C. Powell, 2023, Pediatrics.

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

A. Kemper, D. Bailey, M. Cotten, 2019, BMC Pediatrics.

Parents' Decisions to Screen Newborns for FMR1 Gene Expansions in a Pilot Research Project

J. Sideris, C. Powell, M. Roche, 2011, Pediatrics.

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

S. Schwartz, F. Bieber, R. Stevenson, 2016, Genetics in Medicine.

Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.

Jill L. Maron, S. Kingsmore, L. Trinquart, 2023, JAMA.

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

J. Berg, D. Bailey, C. Powell, 2018, Social science & medicine.

Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects

E. Rampersaud, C. Powell, A. Aylsworth, 2003, Clinical genetics.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Matthew J. Thomas, J. Rosenfeld, B. Torchia, 2012, European Journal of Human Genetics.

ADDENDUM: Laboratory guideline for Turner syndrome

C. Powell, D. Wolff, D. L. Dyke, 2016, Genetics in Medicine.

Values clarification exercises improved parental decision making about newborn genomic sequencing

J. Berg, D. Bailey, C. Powell, 2018 .

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

I. Krantz, E. Roeder, J. Graham, 2023, American journal of medical genetics. Part A.

Townes-Brocks syndrome

C. Powell, R. Michaelis, 1999, Journal of medical genetics.

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

J. Berg, K. Wilhelmsen, Phillips Owen, 2020, Genetics in Medicine.

Diagnosis of human congenital cytomegalovirus infection by amplification of viral DNA from dried blood spots on perinatal cards.

M. Gulley, L. Thorne, C. Powell, 2006, The Journal of molecular diagnostics : JMD.

Laboratory guideline for Turner syndrome

C. Powell, D. Wolff, D. L. Dyke, 2010, Genetics in Medicine.

Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1

D. Stephan, V. Zismann, J. Stajich, 2008, Neurology.

Characteristics and frequency of seizure disorder in 56 patients with Prader–Willi syndrome

C. Powell, Zheng Fan, A. Fisher, 2009, American journal of medical genetics. Part A.